diff --git a/Changes.md b/Changes.md index 2d4671813a..8cb36105a3 100644 --- a/Changes.md +++ b/Changes.md @@ -1,3 +1,106 @@ +## 2018-08-XX release + +### Summary + + * The upper level has been refactored to provide a more intuitive top down view + * Additional equivalence axioms to ONCOTREE + * Filter redundant mapping from SKOS relationships, fixes #282 + +### New classes + + * [pulmonary branch stenosis](http://purl.obolibrary.org/obo/MONDO_0020420y) + * [myelofibrosis](http://purl.obolibrary.org/obo/MONDO_0044903) + * [metastatic squamous cell carcinoma](http://purl.obolibrary.org/obo/MONDO_0044907) + * [bladder urothelial papilloma](http://purl.obolibrary.org/obo/MONDO_0044906) + * [metastatic malignant neoplasm in the eye](http://purl.obolibrary.org/obo/MONDO_0044913) + * [extrarenal rhabdoid tumor](http://purl.obolibrary.org/obo/MONDO_0044916) + * [salivary duct carcinoma](http://purl.obolibrary.org/obo/MONDO_0044915) + * [metastatic malignant neoplasm in the spinal cord](http://purl.obolibrary.org/obo/MONDO_0044912) + * [T-lymphoblastic lymphoma](http://purl.obolibrary.org/obo/MONDO_0044917) + * [malignant renal pelvis neoplasm](http://purl.obolibrary.org/obo/MONDO_0044919) + * [paranasal sinus mucoepidermoid carcinoma](http://purl.obolibrary.org/obo/MONDO_0044956) + * [oral cavity carcinoma](http://purl.obolibrary.org/obo/MONDO_0044925) + * [acute myeloid leukemia with mutated CEBPA](http://purl.obolibrary.org/obo/MONDO_0044924) + * [oropharyngeal carcinoma](http://purl.obolibrary.org/obo/MONDO_0044926) + * [atypical lymphoproliferative disorder](http://purl.obolibrary.org/obo/MONDO_0044921) + * [acute myeloid leukemia with mutated NPM1](http://purl.obolibrary.org/obo/MONDO_0044923) + * [rectal carcinoma](http://purl.obolibrary.org/obo/MONDO_0044937) + * [benign lipomatous neoplasm](http://purl.obolibrary.org/obo/MONDO_0044983) + * [drug pseudoallergy](http://purl.obolibrary.org/obo/MONDO_0044982) + * [pseudoallergy](http://purl.obolibrary.org/obo/MONDO_0044981) + * [disease of signal transduction](http://purl.obolibrary.org/obo/MONDO_0044980) + * [disease of membrane bound organelle](http://purl.obolibrary.org/obo/MONDO_0044969) + * [abdominal and pelvic region disorder](http://purl.obolibrary.org/obo/MONDO_0044965) + * [oral cavity mucoepidermoid carcinoma](http://purl.obolibrary.org/obo/MONDO_0044964) + * [limb disorder](http://purl.obolibrary.org/obo/MONDO_0044967) + * [eosinophil disease](http://purl.obolibrary.org/obo/MONDO_0044972) + * [disease of macromolecular complex](http://purl.obolibrary.org/obo/MONDO_0044971) + * [disease of supramolecular complex](http://purl.obolibrary.org/obo/MONDO_0044974) + * [mitochondrial disease](http://purl.obolibrary.org/obo/MONDO_0044970) + * [disease by cell type](http://purl.obolibrary.org/obo/MONDO_0044979) + * [disease of catalytic activity](http://purl.obolibrary.org/obo/MONDO_0044976) + * [disease of transporter activity](http://purl.obolibrary.org/obo/MONDO_0044975) + * [disease of cell nucleus](http://purl.obolibrary.org/obo/MONDO_0044978) + * [disease of receptor activity](http://purl.obolibrary.org/obo/MONDO_0044977) + * [desmoplastic spitz nevus](http://purl.obolibrary.org/obo/MONDO_0044800) + * [early onset primary dystonia](http://purl.obolibrary.org/obo/MONDO_0044808) + * [inherited dystonia](http://purl.obolibrary.org/obo/MONDO_0044807) + * [acquired idiopathic torsion dystonia](http://purl.obolibrary.org/obo/MONDO_0044817) + * [familial idiopathic torsion dystonia](http://purl.obolibrary.org/obo/MONDO_0044816) + * [idiopathic torsion dystonia](http://purl.obolibrary.org/obo/MONDO_0044811) + * [childhood myelodysplastic syndrome](http://purl.obolibrary.org/obo/MONDO_0044873) + * [dysautonomia](http://purl.obolibrary.org/obo/MONDO_0044872) + * [coronary microvascular disease](http://purl.obolibrary.org/obo/MONDO_0044875) + * [refractory cytopenia of childhood](http://purl.obolibrary.org/obo/MONDO_0044874) + * [dystonia, focal, task-specific](http://purl.obolibrary.org/obo/MONDO_0044871) + * [acquired torsion dystonia](http://purl.obolibrary.org/obo/MONDO_0044870) + * [paraneoplastic cerebellar degeneration](http://purl.obolibrary.org/obo/MONDO_0044877) + * [drug hypersensitivity syndrome](http://purl.obolibrary.org/obo/MONDO_0044876) + * [pancreatic mucinous-cystic neoplasm](http://purl.obolibrary.org/obo/MONDO_0044879) + * [adult germ cell tumor](http://purl.obolibrary.org/obo/MONDO_0044878) + * [torsion dystonia](http://purl.obolibrary.org/obo/MONDO_0044843) + * [tonsillar lymphoma](http://purl.obolibrary.org/obo/MONDO_0044884) + * [tonsillar lipoma](http://purl.obolibrary.org/obo/MONDO_0044885) + * [cystic tumor of the pancreas](http://purl.obolibrary.org/obo/MONDO_0044880) + * [hematopoietic and lymphoid cell neoplasm](http://purl.obolibrary.org/obo/MONDO_0044881) + * [central nervous system non-hodgkin lymphoma](http://purl.obolibrary.org/obo/MONDO_0044887) + * [high grade B-cell lymphoma](http://purl.obolibrary.org/obo/MONDO_0044889) + * [X-linked congenital stationary night blindness](http://purl.obolibrary.org/obo/MONDO_0044749) + * [anaplasmosis in cattle](http://purl.obolibrary.org/obo/MONDO_0044748) + * [human anaplasmosis](http://purl.obolibrary.org/obo/MONDO_0044747) + * [zoonotic bacterial infection](http://purl.obolibrary.org/obo/MONDO_0044746) + * [chronic diarrheal disease](http://purl.obolibrary.org/obo/MONDO_0044751) + * [lumbar spinal stenosis](http://purl.obolibrary.org/obo/MONDO_0044753) + * [lassa virus infectious disease](http://purl.obolibrary.org/obo/MONDO_0044750) + * [desmoplastic melanoma](http://purl.obolibrary.org/obo/MONDO_0044785) + * [myxoma](http://purl.obolibrary.org/obo/MONDO_0044784) + * [nasal cavity and paranasal sinus squamous cell carcinoma](http://purl.obolibrary.org/obo/MONDO_0044787) + * [solid pseudopapillary neoplasm of the pancreas](http://purl.obolibrary.org/obo/MONDO_0044786) + * [nephrotic syndrome of childhood - steroid sensitive](http://purl.obolibrary.org/obo/MONDO_0044781) + * [solid papillary breast carcinoma](http://purl.obolibrary.org/obo/MONDO_0044783) + * [esophageal ulcer](http://purl.obolibrary.org/obo/MONDO_0044782) + * [digital papillary eccrine carcinoma](http://purl.obolibrary.org/obo/MONDO_0044789) + * [perihilar intrahepatic cholangiocarcinoma](http://purl.obolibrary.org/obo/MONDO_0044788) + * [obsolete congenital melanocytic nevus](http://purl.obolibrary.org/obo/MONDO_0044790) + * [spindle cell nevus](http://purl.obolibrary.org/obo/MONDO_0044796) + * [epithelioid cell nevus](http://purl.obolibrary.org/obo/MONDO_0044795) + * [desmoplastic nevus](http://purl.obolibrary.org/obo/MONDO_0044797) + * [large congenital melanocytic nevus](http://purl.obolibrary.org/obo/MONDO_0044792) + * [combined hepatocellular carcinoma and cholangiocarcinoma](http://purl.obolibrary.org/obo/MONDO_0044791) + * [benign melanocytic skin nevus](http://purl.obolibrary.org/obo/MONDO_0044794) + * [spitz nevus](http://purl.obolibrary.org/obo/MONDO_0044793) + * [diarrheal disease secondary to decreased bowel motility](http://purl.obolibrary.org/obo/MONDO_0044763) + * [diarrheal disease secondary to increased bowel motility](http://purl.obolibrary.org/obo/MONDO_0044762) + * [steroid-resistant nephrotic syndrome](http://purl.obolibrary.org/obo/MONDO_0044765) + * [benign choroid plexus neoplasm](http://purl.obolibrary.org/obo/MONDO_0044764) + * [childhood adrenal gland pheochromocytoma](http://purl.obolibrary.org/obo/MONDO_0044767) + * [obsolete Marfan Syndrome 3](http://purl.obolibrary.org/obo/MONDO_0044766) + * [vagus nerve paraganglioma](http://purl.obolibrary.org/obo/MONDO_0044768) + * [premature ovarian failure 10](http://purl.obolibrary.org/obo/MONDO_0044776) + * [nodular lymphocyte predominant Hodgkin lymphoma](http://purl.obolibrary.org/obo/MONDO_0044778) + * [premature ovarian failure 14](http://purl.obolibrary.org/obo/MONDO_0044777) + + ## 2018-08-03 Release This release includes more complete mappings to UMLS/MEDGEN diff --git a/src/ontology/Makefile b/src/ontology/Makefile index 9dce31da0d..7dfa5accee 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 foodon +ONTOLOGY_IMPORTS = uberon cl go pato ro hp mf ncbitaxon chebi envo ecto 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 @@ -113,7 +113,7 @@ osf_upload_direct: ANN = annotate -V $(BASE)/releases/`date +%Y-%m-%d`/$@.owl filtered.obo: $(SRC) - perl -ne 'print unless (m@^xref: (Orphanet|OMIM|DOID|EFO|NCIT|SCTID|MESH|UMLS):@ && !(m@equivalentTo@))' $< | grep -v '^property_value: confidence' | grep -v '^property_value: excluded_subClassOf' | grep -v 'relationship: disease_has_basis_in_dysfunction_of HGNC:' > $@.tmp && mv $@.tmp $@ + perl -ne 'print unless (m@^xref: (Orphanet|OMIM|DOID|EFO|NCIT|SCTID|MESH|UMLS):@ && !(m@equivalent@i))' $< | grep -v '^property_value: confidence' | grep -v '^property_value: excluded_subClassOf' | egrep -v 'relationship: disease_has_basis_in_dysfunction_of (hgnc|HGNC|NCBIGene):' > $@.tmp && mv $@.tmp $@ #egrep -v 'MONDO:(subClassOf|superClassOf|relatedTo)' $< > $@ skos.ttl: $(SRC) @@ -255,10 +255,11 @@ imports/%_import.owl: mirror/%.owl imports/%_terms.txt # we use owltools for making the obo file until: https://github.com/ontodev/robot/issues/64 imports/%_import.obo: imports/%_import.owl - $(OWLTOOLS) $(USECAT) $< -o -f obo --no-check $@.tmp && mv $@.tmp $@ + $(OWLTOOLS) $(USECAT) $< -o -f obo --no-check $@.tmp && grep -v ^owl-axioms $@.tmp > $@ - -imports/%_terms.txt: $(SRC) +edit-merged.owl: $(SRC) + robot merge -c true -i $< -o $@ +imports/%_terms.txt: edit-merged.owl robot query -f tsv -i $< -s ../sparql/classes.sparql $@.tmp && grep -hi $* $@.tmp imports/$*_terms.txt | perl -npe 's@^\<@@;s@>$$@@' | sort -u > $@ # ---------------------------------------- @@ -300,11 +301,10 @@ NEWAXTEST: mondo-edit.owl new.owl # these live in the ../sparql directory, and have suffix -violation.sparql # adding the name here will make the violation check live -EDIT_CHECKS = subclass-cycle equivalent-classes trailing-whitespace owldef-self-reference xref-syntax nolabels undeclared-synonym-type undeclared-subset same-label - -MAIN_OWL_CHECKS = subclass-cycle equivalent-classes trailing-whitespace owldef-self-reference xref-syntax nolabels undeclared-synonym-type undeclared-subset same-label - -MAIN_OBO_CHECKS = subclass-cycle equivalent-classes trailing-whitespace owldef-self-reference xref-syntax nolabels undeclared-synonym-type undeclared-subset same-label +CORE_CHECKS = subclass-cycle equivalent-classes trailing-whitespace owldef-self-reference xref-syntax nolabels undeclared-synonym-type undeclared-subset same-label +EDIT_CHECKS = $(CORE_CHECKS) +MAIN_OWL_CHECKS = $(CORE_CHECKS) no-superclass +MAIN_OBO_CHECKS = $(CORE_CHECKS) no-superclass QSRC = $(SRC)-noimports.owl @@ -531,59 +531,23 @@ mirror/ncit-disease.obo: mirror/ncit-disease.owl mirror/rdo.obo: wget --no-check-certificate ftp://ftp.rgd.mcw.edu/pub/ontology/disease/RDO.obo -O $@ && touch $@ -mirror/ordo_orphanet.owl.zip: - wget --no-check-certificate -nd -P mirror http://www.orphadata.org/data/ORDO/ordo_orphanet.owl.zip && touch $@ - -mirror/ordo_orphanet.owl: mirror/ordo_orphanet.owl.zip - unzip mirror/ordo_orphanet.owl.zip -d mirror - touch $@ - mirror/medgen-disease-extract.owl: mirror/medgen-disease-extract.obo owltools $< -o $@.tmp && perl -npe $(FIX_URI_EXPR) $@.tmp > $@ mirror/dipper-%.ttl: - wget --no-check-certificate https://data.monarchinitiative.org/ttl/$*.ttl -O $@ - + wget --no-check-certificate https://data.monarchinitiative.org/ttl/$*.ttl -O $@.tmp && perl -npe 's@http://www.genenames.org/cgi-bin/gene_symbol_report\\?hgnc_id=@http://identifiers.org/hgnc/@g' $@.tmp > $@ +mirror/dipper-%.obo: mirror/dipper-%.ttl + robot convert -i $< -o $@.tmp.obo && grep -v ^owl-axioms $@.tmp.obo > $@ -# ~~~~~~~~ -# ORDO -# ~~~~~~~~ +mirror/hgnc.owl: mirror/dipper-hgnc.ttl + robot query --format ttl -c ../sparql/construct-hgnc.sparql $@ -i $< +# robot query construct +# owltools $< --remove-axioms -t EquivalentClasses -o $@ +# owltools $< --remove-dangling -o $@ +# owltools $< --merge-equivalence-sets -s http://identifiers.org/hgnc/ 20 -o $@ -# STEP 1: DOWNLOAD -mirror/obo_orphanet_1.owl: mirror/ordo_orphanet.owl - owltools $< $(EFO2OBO_OPTS) -o $@.tmp && mv $@.tmp $@ - -# STEP 2: Fix XREFs -mirror/obo_orphanet_2.owl: mirror/obo_orphanet_1.owl - perl -npe 's@MeSH:@MESH:@;s@ICD-10:@ICD10:@;' $< > $@.tmp && mv $@.tmp $@ - -# STEP 2b: Create is-a from part-of -mirror/obo_orphanet_sc.owl: mirror/obo_orphanet_2.owl - robot query --format ttl -c ../sparql/construct-subclass-from-part-of.sparql $@ -i $< - -# STEP 2c: Create subsets based on subClass to sub-root level -mirror/obo_orphanet_subsets.owl: mirror/obo_orphanet_2.owl - robot query --format ttl -c ../sparql/construct-ordo-subsets.sparql $@ -i $< - -# STEP 3: merge 2b and 2c in to 2 -mirror/obo_orphanet_3.owl: mirror/obo_orphanet_2.owl mirror/obo_orphanet_sc.owl mirror/obo_orphanet_subsets.owl - owltools $^ --merge-support-ontologies -o $@ - -# STEP 3b: make an .obo file -mirror/obo_orphanet_3.obo: mirror/obo_orphanet_3.owl - owltools $< -o -f obo $@.tmp && grep -v ^owl-axioms $@.tmp > $@ - -# STEP 4: Remove part-ofs (see 2b, we have these as subClassOf now) -mirror/obo_orphanet_4.obo: mirror/obo_orphanet_3.obo - grep -v '^relationship: BFO:0000050' $< > $@ - -mirror/obo_orphanet.obo: mirror/obo_orphanet_4.obo - cp $< $@ -mirror/obo_orphanet.owl: mirror/obo_orphanet.obo - owltools $< -o $@.tmp && perl -npe 's@http://purl.obolibrary.org/obo/Orphanet_@http://www.orpha.net/ORDO/Orphanet_@g' $@.tmp > $@ - mirror/omia.ttl: wget --no-check-certificate http://data.monarchinitiative.org/ttl/omia.ttl -O $@ && touch $@ .PRECIOUS: mirror/omia.ttl @@ -751,7 +715,24 @@ omim2medgen.obo: mim2gene_medgen # remember to clear tmp/ dir for fresh start # mondo_queries requires for prefixes all_unique.tsv: - rdfmatch -p MONDO -l -c ../plq/mondo_queries.pro -X tmp -A void.ttl -f tsv -v -i all unique_match > $@ + rdfmatch -p MONDO -l -c ../plq/mondo_queries.pro -X tmp -A void.ttl -f tsv -v -i all -i skos.ttl unique_match > $@ + +all_unique_fresh: clean_tmp all_unique.tsv +clean_tmp: + rm tmp/* + +# ---------------------------------------- +# Metaclasses +# ---------------------------------------- +disorder-by-%.tsv: mondo-edit.obo + blip-findall -r uberonp -r cell -r go -i $< "class_cdef(C,cdef('MONDO:0000001',[disease_has_location=A])),subclassRT(A,'$(subst _,:,$*)')" -select C-A -no_pred -use_tabs -label > $@.tmp && sort -u $@.tmp > $@ + +disorder-by-anatomical-region.tsv: disorder-by-UBERON_0000475.tsv + cp $< $@ +disorder-by-anatomical-system.tsv: disorder-by-UBERON_0000467.tsv + cp $< $@ +disorder-by-cell.tsv: disorder-by-CL_0000000.tsv + cp $< $@ # ---------------------------------------- # Anns diff --git a/src/ontology/catalog-v001.xml b/src/ontology/catalog-v001.xml index 3d2bfbf0d4..f4059459c7 100644 --- a/src/ontology/catalog-v001.xml +++ b/src/ontology/catalog-v001.xml @@ -15,6 +15,8 @@ + + diff --git a/src/ontology/imports/chebi_import.obo b/src/ontology/imports/chebi_import.obo index d8e6b769e0..eedc5b4aec 100644 --- a/src/ontology/imports/chebi_import.obo +++ b/src/ontology/imports/chebi_import.obo @@ -177,6 +177,15 @@ synonym: "Karbamat" RELATED [] is_a: CHEBI:37022 ! amino-acid anion relationship: is_conjugate_base_of CHEBI:28616 ! carbamic acid +[Term] +id: CHEBI:15022 +name: electron donor +def: "A molecular entity that can transfer an electron to another molecular entity." [] +synonym: "donneur d'electron" RELATED [] +synonym: "electron donor" EXACT [] +synonym: "Elektronendonator" RELATED [] +is_a: CHEBI:17891 ! donor + [Term] id: CHEBI:15036 name: retinoate @@ -287,6 +296,65 @@ relationship: RO:0000087 CHEBI:26348 ! prosthetic group relationship: RO:0000087 CHEBI:50733 ! nutraceutical relationship: RO:0000087 CHEBI:77746 ! human metabolite +[Term] +id: CHEBI:15377 +name: water +def: "An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms." [] +synonym: "[OH2]" RELATED [] +synonym: "acqua" RELATED [] +synonym: "agua" RELATED [] +synonym: "aqua" RELATED [] +synonym: "BOUND WATER" RELATED [] +synonym: "dihydridooxygen" RELATED [] +synonym: "dihydrogen oxide" RELATED [] +synonym: "eau" RELATED [] +synonym: "H2O" RELATED [] +synonym: "HOH" RELATED [] +synonym: "hydrogen hydroxide" RELATED [] +synonym: "oxidane" EXACT [] +synonym: "Wasser" RELATED [] +synonym: "WATER" EXACT [] +synonym: "Water" EXACT [] +synonym: "water" EXACT [] +is_a: CHEBI:33693 ! oxygen hydride +is_a: CHEBI:37176 ! mononuclear parent hydride +is_a: CHEBI:52625 ! inorganic hydroxy compound +relationship: is_conjugate_acid_of CHEBI:16234 ! hydroxide +relationship: is_conjugate_base_of CHEBI:29412 ! oxonium +relationship: RO:0000087 CHEBI:48360 ! amphiprotic solvent +relationship: RO:0000087 CHEBI:75771 ! mouse metabolite +relationship: RO:0000087 CHEBI:75772 ! Saccharomyces cerevisiae metabolite +relationship: RO:0000087 CHEBI:76413 ! greenhouse gas +relationship: RO:0000087 CHEBI:76971 ! Escherichia coli metabolite +relationship: RO:0000087 CHEBI:77746 ! human metabolite + +[Term] +id: CHEBI:15379 +name: dioxygen +synonym: "[OO]" RELATED [] +synonym: "dioxygen" EXACT [] +synonym: "dioxygene" RELATED [] +synonym: "Disauerstoff" RELATED [] +synonym: "E 948" RELATED [] +synonym: "E-948" RELATED [] +synonym: "E948" RELATED [] +synonym: "molecular oxygen" RELATED [] +synonym: "O2" RELATED [] +synonym: "Oxygen" RELATED [] +synonym: "OXYGEN MOLECULE" RELATED [] +is_a: CHEBI:138675 ! gas molecular entity +is_a: CHEBI:25362 ! elemental molecule +is_a: CHEBI:33263 ! diatomic oxygen +relationship: is_conjugate_base_of CHEBI:29793 ! hydridodioxygen(1+) +relationship: RO:0000087 CHEBI:27027 ! micronutrient +relationship: RO:0000087 CHEBI:33284 ! nutrient +relationship: RO:0000087 CHEBI:33893 ! reagent +relationship: RO:0000087 CHEBI:35472 ! anti-inflammatory drug +relationship: RO:0000087 CHEBI:63248 ! oxidising agent +relationship: RO:0000087 CHEBI:75772 ! Saccharomyces cerevisiae metabolite +relationship: RO:0000087 CHEBI:77746 ! human metabolite +relationship: RO:0000087 CHEBI:77974 ! food packaging gas + [Term] id: CHEBI:15705 name: L-alpha-amino acid @@ -408,6 +476,21 @@ relationship: RO:0000087 CHEBI:75772 ! Saccharomyces cerevisiae metabolite relationship: RO:0000087 CHEBI:76971 ! Escherichia coli metabolite relationship: RO:0000087 CHEBI:77746 ! human metabolite +[Term] +id: CHEBI:16042 +name: halide anion +def: "A monoatomic monoanion resulting from the addition of an electron to any halogen atom." [] +synonym: "a halide anion" RELATED [] +synonym: "Halide" RELATED [] +synonym: "halide anions" RELATED [] +synonym: "halide ions" EXACT [] +synonym: "halide(1-)" RELATED [] +synonym: "halides" RELATED [] +synonym: "halogen anion" RELATED [] +synonym: "HX" RELATED [] +is_a: CHEBI:33429 ! monoatomic monoanion +is_a: CHEBI:79389 ! monovalent inorganic anion + [Term] id: CHEBI:16134 name: ammonia @@ -480,6 +563,30 @@ relationship: RO:0000087 CHEBI:76971 ! Escherichia coli metabolite relationship: RO:0000087 CHEBI:77746 ! human metabolite relationship: RO:0000087 CHEBI:83056 ! Daphnia magna metabolite +[Term] +id: CHEBI:16234 +name: hydroxide +synonym: "HO-" RELATED [] +synonym: "hydridooxygenate(1-)" EXACT [] +synonym: "hydroxide" EXACT [] +synonym: "HYDROXIDE ION" RELATED [] +synonym: "Hydroxide ion" RELATED [] +synonym: "OH(-)" RELATED [] +synonym: "OH-" RELATED [] +synonym: "oxidanide" EXACT [] +is_a: CHEBI:33693 ! oxygen hydride +relationship: is_conjugate_base_of CHEBI:15377 ! water +relationship: RO:0000087 CHEBI:75771 ! mouse metabolite + +[Term] +id: CHEBI:16277 +name: haloacetic acid +def: "A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom." [] +is_a: CHEBI:25384 ! monocarboxylic acid +is_a: CHEBI:36684 ! organohalogen compound +relationship: has_functional_parent CHEBI:15366 ! acetic acid +relationship: is_conjugate_acid_of CHEBI:85638 ! haloacetate(1-) + [Term] id: CHEBI:16294 name: barbituric acid @@ -496,6 +603,69 @@ relationship: is_conjugate_acid_of CHEBI:57718 ! barbiturate(2-) relationship: is_conjugate_acid_of CHEBI:77938 ! barbiturate(1-) relationship: RO:0000087 CHEBI:35703 ! xenobiotic +[Term] +id: CHEBI:16393 +name: sphingosine +def: "A sphing-4-enine in which the double bond is trans." [] +synonym: "(2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene" RELATED [] +synonym: "(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol" RELATED [] +synonym: "(2S,3R,4E)-2-amino-4-octadecene-1,3-diol" RELATED [] +synonym: "(2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol" EXACT [] +synonym: "(2S,3R,E)-2-aminooctadec-4-ene-1,3-diol" RELATED [] +synonym: "(4E)-sphing-4-enine" RELATED [] +synonym: "(4E)-sphingenine" RELATED [] +synonym: "(E)-2-amino-4-octadecan-1,3-diol" RELATED [] +synonym: "(E)-D-erythro-4-octadecene-1,3-diol" RELATED [] +synonym: "2-amino-4-octadecene-1,3-diol" RELATED [] +synonym: "C18 sphingosine" RELATED [] +synonym: "D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene" RELATED [] +synonym: "D-erythro-sphingosine" RELATED [] +synonym: "Sph" RELATED [] +synonym: "Sphing-4-enine" RELATED [] +synonym: "Sphingenine" RELATED [] +synonym: "Sphingoid" RELATED [] +synonym: "sphingosin" RELATED [] +synonym: "Sphingosine" EXACT [] +synonym: "Sphingosine d18:1" RELATED [] +synonym: "trans-4-sphingenine" RELATED [] +synonym: "trans-D-erythro-2-amino-4-octadecene-1,3-diol" RELATED [] +is_a: CHEBI:26743 ! sphing-4-enine +relationship: is_conjugate_base_of CHEBI:57756 ! sphingosine(1+) +relationship: is_enantiomer_of CHEBI:46967 ! L-erythro-sphingosine +relationship: RO:0000087 CHEBI:75771 ! mouse metabolite +relationship: RO:0000087 CHEBI:77746 ! human metabolite + +[Term] +id: CHEBI:16526 +name: carbon dioxide +def: "A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food." [] +synonym: "[CO2]" RELATED [] +synonym: "CARBON DIOXIDE" EXACT [] +synonym: "Carbon dioxide" EXACT [] +synonym: "carbon dioxide" EXACT [] +synonym: "carbonic anhydride" RELATED [] +synonym: "CO2" RELATED [] +synonym: "dioxidocarbon" EXACT [] +synonym: "E 290" RELATED [] +synonym: "E-290" RELATED [] +synonym: "E290" RELATED [] +synonym: "R-744" RELATED [] +is_a: CHEBI:138675 ! gas molecular entity +is_a: CHEBI:23014 ! carbon oxide +is_a: CHEBI:64708 ! one-carbon compound +relationship: RO:0000087 CHEBI:35620 ! vasodilator agent +relationship: RO:0000087 CHEBI:38867 ! anaesthetic +relationship: RO:0000087 CHEBI:46787 ! solvent +relationship: RO:0000087 CHEBI:48706 ! antagonist +relationship: RO:0000087 CHEBI:75771 ! mouse metabolite +relationship: RO:0000087 CHEBI:75772 ! Saccharomyces cerevisiae metabolite +relationship: RO:0000087 CHEBI:76413 ! greenhouse gas +relationship: RO:0000087 CHEBI:76971 ! Escherichia coli metabolite +relationship: RO:0000087 CHEBI:77746 ! human metabolite +relationship: RO:0000087 CHEBI:77974 ! food packaging gas +relationship: RO:0000087 CHEBI:78017 ! food propellant +relationship: RO:0000087 CHEBI:78433 ! refrigerant + [Term] id: CHEBI:16541 name: protein polypeptide chain @@ -624,6 +794,52 @@ is_a: CHEBI:83925 ! non-proteinogenic alpha-amino acid relationship: is_conjugate_acid_of CHEBI:60895 ! D-alpha-amino acid anion relationship: is_tautomer_of CHEBI:59871 ! D-alpha-amino acid zwitterion +[Term] +id: CHEBI:16842 +name: formaldehyde +def: "An aldehyde resulting from the formal oxidation of methanol." [] +synonym: "Formaldehyd" RELATED [] +synonym: "FORMALDEHYDE" EXACT [] +synonym: "Formaldehyde" EXACT [] +synonym: "formaldehyde" EXACT [] +synonym: "FORMALIN" RELATED [] +synonym: "Formalin" RELATED [] +synonym: "Methanal" RELATED [] +synonym: "Methylene oxide" RELATED [] +synonym: "Oxomethane" RELATED [] +synonym: "Oxomethylene" RELATED [] +is_a: CHEBI:17478 ! aldehyde +is_a: CHEBI:64708 ! one-carbon compound +relationship: RO:0000087 CHEBI:48219 ! disinfectant +relationship: RO:0000087 CHEBI:50903 ! carcinogenic agent +relationship: RO:0000087 CHEBI:50904 ! allergen +relationship: RO:0000087 CHEBI:75771 ! mouse metabolite +relationship: RO:0000087 CHEBI:75772 ! Saccharomyces cerevisiae metabolite +relationship: RO:0000087 CHEBI:76971 ! Escherichia coli metabolite +relationship: RO:0000087 CHEBI:77941 ! EC 3.5.1.4 (amidase) inhibitor +relationship: RO:0000087 CHEBI:78298 ! environmental contaminant + +[Term] +id: CHEBI:16874 +name: psychosine +def: "A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position." [] +synonym: "(2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene" RELATED [] +synonym: "(2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside" EXACT [] +synonym: "1-beta-D-galactosphingosine" RELATED [] +synonym: "1-beta-D-galactosylsphingosine" RELATED [] +synonym: "1-O-beta-D-galactopyranosylsphingosine" RELATED [] +synonym: "1-O-beta-D-galactosylsphingosine" RELATED [] +synonym: "Galactosylsphingosine" RELATED [] +synonym: "O-Galactosylsphingosine" RELATED [] +synonym: "O-galactosylsphingosine" RELATED [] +synonym: "Psychosine" EXACT [] +synonym: "sphingosine galactoside" RELATED [] +is_a: CHEBI:36527 ! glycosylsphingoid +relationship: has_functional_parent CHEBI:16393 ! sphingosine +relationship: has_functional_parent CHEBI:26743 ! sphing-4-enine +relationship: is_conjugate_base_of CHEBI:57934 ! psychosine(1+) +relationship: RO:0000087 CHEBI:77746 ! human metabolite + [Term] id: CHEBI:16914 name: salicylic acid @@ -1000,6 +1216,31 @@ relationship: RO:0000087 CHEBI:75771 ! mouse metabolite relationship: RO:0000087 CHEBI:76971 ! Escherichia coli metabolite relationship: RO:0000087 CHEBI:77746 ! human metabolite +[Term] +id: CHEBI:17883 +name: hydrogen chloride +def: "A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms." [] +synonym: "[HCl]" RELATED [] +synonym: "chlorane" EXACT [] +synonym: "chloridohydrogen" EXACT [] +synonym: "chlorure d'hydrogene" RELATED [] +synonym: "Chlorwasserstoff" RELATED [] +synonym: "cloruro de hidrogeno" RELATED [] +synonym: "HCl" RELATED [] +synonym: "hydrochloric acid" RELATED [] +synonym: "Hydrochloride" RELATED [] +synonym: "Hydrogen chloride" EXACT [] +synonym: "hydrogen chloride" EXACT [] +synonym: "Hydrogenchlorid" RELATED [] +synonym: "Wasserstoffchlorid" RELATED [] +is_a: CHEBI:138675 ! gas molecular entity +is_a: CHEBI:18140 ! hydrogen halide +is_a: CHEBI:23117 ! chlorine molecular entity +is_a: CHEBI:37176 ! mononuclear parent hydride +relationship: is_conjugate_acid_of CHEBI:17996 ! chloride +relationship: is_conjugate_base_of CHEBI:50315 ! chloronium +relationship: RO:0000087 CHEBI:75771 ! mouse metabolite + [Term] id: CHEBI:17891 name: donor @@ -1042,6 +1283,41 @@ relationship: RO:0000087 CHEBI:50733 ! nutraceutical relationship: RO:0000087 CHEBI:64416 ! EC 1.3.1.43 (arogenate dehydrogenase) inhibitor relationship: RO:0000087 CHEBI:78675 ! fundamental metabolite +[Term] +id: CHEBI:17996 +name: chloride +def: "A halide anion formed when chlorine picks up an electron to form an an anion." [] +synonym: "Chloride" EXACT [] +synonym: "chloride" EXACT [] +synonym: "CHLORIDE ION" RELATED [] +synonym: "Chloride ion" RELATED [] +synonym: "Chloride(1-)" RELATED [] +synonym: "chloride(1-)" EXACT [] +synonym: "Chlorine anion" RELATED [] +synonym: "Cl(-)" RELATED [] +synonym: "Cl-" RELATED [] +is_a: CHEBI:16042 ! halide anion +is_a: CHEBI:33432 ! monoatomic chlorine +relationship: is_conjugate_base_of CHEBI:17883 ! hydrogen chloride +relationship: RO:0000087 CHEBI:76971 ! Escherichia coli metabolite +relationship: RO:0000087 CHEBI:77746 ! human metabolite + +[Term] +id: CHEBI:17997 +name: dinitrogen +def: "An elemental molecule consisting of two trivalently-bonded nitrogen atoms." [] +synonym: "dinitrogen" EXACT [] +synonym: "molecular nitrogen" RELATED [] +synonym: "N#N" RELATED [] +synonym: "N2" RELATED [] +synonym: "Nitrogen" RELATED [] +is_a: CHEBI:138675 ! gas molecular entity +is_a: CHEBI:25362 ! elemental molecule +is_a: CHEBI:33266 ! diatomic nitrogen +relationship: is_conjugate_base_of CHEBI:30102 ! diazynium +relationship: RO:0000087 CHEBI:77974 ! food packaging gas +relationship: RO:0000087 CHEBI:78017 ! food propellant + [Term] id: CHEBI:18049 name: piperidine @@ -1076,6 +1352,16 @@ synonym: "Lipid" EXACT [] synonym: "lipids" EXACT [] is_a: CHEBI:50860 ! organic molecular entity +[Term] +id: CHEBI:18140 +name: hydrogen halide +synonym: "HX" RELATED [] +synonym: "hydrogen halide" EXACT [] +synonym: "hydrogen halides" EXACT [] +synonym: "hydrogen halides" RELATED [] +is_a: CHEBI:33405 ! hydracid +relationship: RO:0000087 CHEBI:138103 ! inorganic acid + [Term] id: CHEBI:18186 name: tyrosine @@ -1215,6 +1501,14 @@ synonym: "alkanoyl group" RELATED [] synonym: "groupe acyle" RELATED [] is_a: CHEBI:33247 ! organic group +[Term] +id: CHEBI:22271 +name: aflatoxin +def: "Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins" [] +synonym: "aflatoxins" RELATED [] +is_a: CHEBI:48210 ! cyclopentafurofurochromene +relationship: RO:0000087 CHEBI:25442 ! mycotoxin + [Term] id: CHEBI:22313 name: alkaline earth metal atom @@ -1232,6 +1526,21 @@ is_a: CHEBI:33318 ! main group element atom is_a: CHEBI:33521 ! metal atom is_a: CHEBI:33559 ! s-block element atom +[Term] +id: CHEBI:22314 +name: alkali metal atom +synonym: "alkali metal" RELATED [] +synonym: "alkali metals" EXACT [] +synonym: "Alkalimetall" RELATED [] +synonym: "Alkalimetalle" RELATED [] +synonym: "metal alcalin" RELATED [] +synonym: "metal alcalino" RELATED [] +synonym: "metales alcalinos" RELATED [] +synonym: "metaux alcalins" RELATED [] +is_a: CHEBI:33318 ! main group element atom +is_a: CHEBI:33521 ! metal atom +is_a: CHEBI:33559 ! s-block element atom + [Term] id: CHEBI:22315 name: alkaloid @@ -1244,6 +1553,32 @@ synonym: "alkaloids" EXACT [] is_a: CHEBI:35352 ! organonitrogen compound relationship: RO:0000087 CHEBI:25212 ! metabolite +[Term] +id: CHEBI:22333 +name: alkylating agent +def: "Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases." [] +is_a: CHEBI:25435 ! mutagen + +[Term] +id: CHEBI:22478 +name: amino alcohol +def: "An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group." [] +synonym: "amino alcohols" RELATED [] +synonym: "aminoalcohol" RELATED [] +synonym: "aminoalcohols" RELATED [] +is_a: CHEBI:30879 ! alcohol +is_a: CHEBI:50047 ! organic amino compound + +[Term] +id: CHEBI:22501 +name: aminodiol +def: "An amino alcohol having two hydroxy functional groups." [] +synonym: "amino diol" RELATED [] +synonym: "amino diols" RELATED [] +synonym: "aminodiols" RELATED [] +is_a: CHEBI:22478 ! amino alcohol +is_a: CHEBI:23824 ! diol + [Term] id: CHEBI:22562 name: anilines @@ -1328,6 +1663,25 @@ id: CHEBI:22881 name: biopterins is_a: CHEBI:26375 ! pterins +[Term] +id: CHEBI:22977 +name: cadmium atom +synonym: "48Cd" RELATED [] +synonym: "cadmio" RELATED [] +synonym: "cadmium" EXACT [] +synonym: "cadmium" RELATED [] +synonym: "Cd" RELATED [] +synonym: "Kadmium" RELATED [] +is_a: CHEBI:33340 ! zinc group element atom + +[Term] +id: CHEBI:22978 +name: cadmium molecular entity +synonym: "cadmium compounds" RELATED [] +synonym: "cadmium molecular entities" RELATED [] +is_a: CHEBI:33673 ! zinc group molecular entity +relationship: BFO:0000051 CHEBI:22977 ! cadmium atom + [Term] id: CHEBI:23004 name: carbamoyl group @@ -1387,6 +1741,15 @@ synonym: "carbonyl" EXACT [] synonym: "carbonyl group" EXACT [] is_a: CHEBI:51422 ! organodiyl group +[Term] +id: CHEBI:23114 +name: chloride salt +synonym: "chloride salts" RELATED [] +synonym: "chlorides" RELATED [] +is_a: CHEBI:23117 ! chlorine molecular entity +is_a: CHEBI:33958 ! halide salt +relationship: BFO:0000051 CHEBI:17996 ! chloride + [Term] id: CHEBI:23116 name: chlorine atom @@ -1408,6 +1771,21 @@ def: "A halogen molecular entity containing one or more atoms of chlorine." [] is_a: CHEBI:24471 ! halogen molecular entity relationship: BFO:0000051 CHEBI:23116 ! chlorine atom +[Term] +id: CHEBI:23123 +name: chloroacetate +def: "A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid." [] +synonym: "chloroacetate" EXACT [] +synonym: "chloroacetate anion" RELATED [] +synonym: "chloroacetate(1-)" RELATED [] +synonym: "Chloroacetic acid ion(1-)" RELATED [] +synonym: "mono-chloroacetate" RELATED [] +synonym: "monochloroacetate anion" RELATED [] +synonym: "monochloroacetic acid anion" RELATED [] +is_a: CHEBI:85638 ! haloacetate(1-) +relationship: has_functional_parent CHEBI:30089 ! acetate +relationship: is_conjugate_base_of CHEBI:27869 ! chloroacetic acid + [Term] id: CHEBI:23132 name: chlorobenzenes @@ -1519,6 +1897,20 @@ synonym: "drugs" RELATED [] synonym: "medicine" RELATED [] is_a: CHEBI:52217 ! pharmaceutical +[Term] +id: CHEBI:23905 +name: monoatomic anion +synonym: "monoatomic anions" RELATED [] +is_a: CHEBI:22563 ! anion +is_a: CHEBI:24867 ! monoatomic ion + +[Term] +id: CHEBI:23906 +name: monoatomic cation +synonym: "monoatomic cations" RELATED [] +is_a: CHEBI:24867 ! monoatomic ion +is_a: CHEBI:36916 ! cation + [Term] id: CHEBI:23924 name: enzyme inhibitor @@ -1564,6 +1956,14 @@ synonym: "O-glycoside" RELATED [] synonym: "O-glycosides" RELATED [] is_a: CHEBI:63161 ! glycosyl compound +[Term] +id: CHEBI:24402 +name: glycosphingolipid +def: "A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid." [] +synonym: "glycosphingolipids" RELATED [] +is_a: CHEBI:26739 ! sphingolipid +is_a: CHEBI:33563 ! glycolipid + [Term] id: CHEBI:24431 name: chemical entity @@ -1753,6 +2153,39 @@ synonym: "inorganic oxides" RELATED [] is_a: CHEBI:24835 ! inorganic molecular entity is_a: CHEBI:25741 ! oxide +[Term] +id: CHEBI:24839 +name: inorganic salt +synonym: "anorganisches Salz" RELATED [] +synonym: "inorganic salts" RELATED [] +is_a: CHEBI:24835 ! inorganic molecular entity +is_a: CHEBI:24866 ! salt + +[Term] +id: CHEBI:24866 +name: salt +def: "A salt is an assembly of cations and anions." [] +synonym: "ionic compound" RELATED [] +synonym: "ionic compounds" RELATED [] +synonym: "sal" RELATED [] +synonym: "sales" RELATED [] +synonym: "salt" EXACT [] +synonym: "salts" RELATED [] +synonym: "Salz" RELATED [] +synonym: "Salze" RELATED [] +synonym: "sel" RELATED [] +synonym: "sels" RELATED [] +is_a: CHEBI:37577 ! heteroatomic molecular entity +relationship: BFO:0000051 CHEBI:22563 ! anion +relationship: BFO:0000051 CHEBI:36916 ! cation + +[Term] +id: CHEBI:24867 +name: monoatomic ion +synonym: "monoatomic ions" RELATED [] +is_a: CHEBI:24870 ! ion +is_a: CHEBI:33238 ! monoatomic entity + [Term] id: CHEBI:24870 name: ion @@ -1854,6 +2287,14 @@ synonym: "primary metabolites" RELATED [] synonym: "secondary metabolites" RELATED [] is_a: CHEBI:52206 ! biochemical role +[Term] +id: CHEBI:25213 +name: metal cation +synonym: "a metal cation" RELATED [] +synonym: "metal cations" RELATED [] +is_a: CHEBI:23906 ! monoatomic cation +is_a: CHEBI:36915 ! inorganic cation + [Term] id: CHEBI:25216 name: metalloporphyrin @@ -1886,6 +2327,15 @@ synonym: "mitochondrial electron-transport chain inhibitor" RELATED [] synonym: "mitochondrial respiratory chain inhibitors" RELATED [] is_a: CHEBI:38497 ! respiratory-chain inhibitor +[Term] +id: CHEBI:25362 +name: elemental molecule +def: "A molecule all atoms of which have the same atomic number." [] +synonym: "homoatomic molecule" RELATED [] +synonym: "homoatomic molecules" RELATED [] +is_a: CHEBI:25367 ! molecule +is_a: CHEBI:33259 ! elemental molecular entity + [Term] id: CHEBI:25367 name: molecule @@ -1920,6 +2370,35 @@ def: "Any hydroxybenzoic acid having a single phenolic hydroxy substituent on th synonym: "monohydroxybenzoic acids" RELATED [] is_a: CHEBI:24676 ! hydroxybenzoic acid +[Term] +id: CHEBI:25414 +name: monoatomic monocation +synonym: "monoatomic monocations" RELATED [] +synonym: "monovalent cation" RELATED [] +synonym: "monovalent inorganic cations" RELATED [] +is_a: CHEBI:23906 ! monoatomic cation + +[Term] +id: CHEBI:25435 +name: mutagen +def: "An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution." [] +synonym: "mutagene" RELATED [] +synonym: "mutagenes" RELATED [] +synonym: "mutagenic agent" RELATED [] +synonym: "mutageno" RELATED [] +synonym: "mutagenos" RELATED [] +synonym: "mutagens" RELATED [] +is_a: CHEBI:50902 ! genotoxin + +[Term] +id: CHEBI:25442 +name: mycotoxin +def: "Poisonous substance produced by fungi." [] +synonym: "fungal toxins" RELATED [] +synonym: "mycotoxins" RELATED [] +is_a: CHEBI:27026 ! toxin +is_a: CHEBI:76946 ! fungal metabolite + [Term] id: CHEBI:25512 name: neurotransmitter @@ -1927,6 +2406,13 @@ def: "An endogenous compound that is used to transmit information across the syn synonym: "neurotransmitters" RELATED [] is_a: CHEBI:33280 ! molecular messenger +[Term] +id: CHEBI:25513 +name: neutral glycosphingolipid +def: "Any glycosphingolipid containing unsubstituted glycosyl moieties." [] +synonym: "neutral glycosphingolipids" RELATED [] +is_a: CHEBI:24402 ! glycosphingolipid + [Term] id: CHEBI:25555 name: nitrogen atom @@ -2263,6 +2749,84 @@ synonym: "short-chain fatty acids" RELATED [] is_a: CHEBI:35366 ! fatty acid relationship: is_conjugate_acid_of CHEBI:58951 ! short-chain fatty acid anion +[Term] +id: CHEBI:26708 +name: sodium atom +synonym: "11Na" RELATED [] +synonym: "Na" RELATED [] +synonym: "Natrium" RELATED [] +synonym: "natrium" RELATED [] +synonym: "sodio" RELATED [] +synonym: "sodium" EXACT [] +synonym: "sodium" RELATED [] +is_a: CHEBI:22314 ! alkali metal atom +relationship: RO:0000087 CHEBI:75772 ! Saccharomyces cerevisiae metabolite + +[Term] +id: CHEBI:26710 +name: sodium chloride +def: "An inorganic chloride salt having sodium(1+) as the counterion." [] +synonym: "chlorure de sodium" RELATED [] +synonym: "cloruro sodico" RELATED [] +synonym: "common salt" RELATED [] +synonym: "halite" RELATED [] +synonym: "Kochsalz" RELATED [] +synonym: "NaCl" RELATED [] +synonym: "natrii chloridum" RELATED [] +synonym: "Natriumchlorid" RELATED [] +synonym: "rock salt" RELATED [] +synonym: "salt" RELATED [] +synonym: "sodium chloride" EXACT [] +synonym: "table salt" RELATED [] +is_a: CHEBI:36093 ! inorganic chloride +is_a: CHEBI:38702 ! inorganic sodium salt + +[Term] +id: CHEBI:26712 +name: sodium molecular entity +synonym: "sodium compounds" RELATED [] +synonym: "sodium molecular entities" RELATED [] +is_a: CHEBI:33296 ! alkali metal molecular entity +relationship: BFO:0000051 CHEBI:26708 ! sodium atom + +[Term] +id: CHEBI:26714 +name: sodium salt +def: "Any alkali metal salt having sodium(1+) as the cation." [] +synonym: "Natriumsalz" RELATED [] +synonym: "Natriumsalze" RELATED [] +synonym: "sodium salts" RELATED [] +is_a: CHEBI:26712 ! sodium molecular entity +is_a: CHEBI:35479 ! alkali metal salt +relationship: BFO:0000051 CHEBI:29101 ! sodium(1+) + +[Term] +id: CHEBI:26738 +name: sphingenine +def: "A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration." [] +synonym: "sphingenines" RELATED [] +is_a: CHEBI:46963 ! 2-aminooctadecene-1,3-diol + +[Term] +id: CHEBI:26739 +name: sphingolipid +def: "Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone." [] +synonym: "sphingolipids" RELATED [] +is_a: CHEBI:18059 ! lipid +is_a: CHEBI:35352 ! organonitrogen compound +is_a: CHEBI:36963 ! organooxygen compound + +[Term] +id: CHEBI:26743 +name: sphing-4-enine +def: "A sphingenine in which the C=C double bond is located at the 4-position." [] +synonym: "(2S,3R)-2-aminooctadec-4-ene-1,3-diol" EXACT [] +synonym: "4-sphingenine" RELATED [] +synonym: "sphing-4-enine" EXACT [] +is_a: CHEBI:26738 ! sphingenine +is_a: CHEBI:46964 ! 2-aminooctadec-4-ene-1,3-diol +relationship: is_enantiomer_of CHEBI:46965 ! (2R,3S)-2-aminooctadec-4-ene-1,3-diol + [Term] id: CHEBI:26764 name: steroid hormone @@ -2555,6 +3119,32 @@ relationship: RO:0000087 CHEBI:23018 ! EC 4.2.1.1 (carbonic anhydrase) inhibitor relationship: RO:0000087 CHEBI:35498 ! diuretic relationship: RO:0000087 CHEBI:35623 ! anticonvulsant +[Term] +id: CHEBI:27869 +name: chloroacetic acid +def: "A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent." [] +synonym: "2-chloro-acetic acid" RELATED [] +synonym: "2-chloro-ethanoic acid" RELATED [] +synonym: "2-chloroacetic acid" RELATED [] +synonym: "Acide chloracetique" RELATED [] +synonym: "Acide chloroacetique" RELATED [] +synonym: "Acide monochloracetique" RELATED [] +synonym: "alpha-chloro-acetic acid" RELATED [] +synonym: "CAA" RELATED [] +synonym: "chloracetic acid" RELATED [] +synonym: "Chloroacetic acid" EXACT [] +synonym: "chloroacetic acid" EXACT [] +synonym: "Chloroethanoic acid" RELATED [] +synonym: "Monochloressigsaeure" RELATED [] +synonym: "monochloroacetic acid" RELATED [] +synonym: "monochloroethanoic acid" RELATED [] +is_a: CHEBI:16277 ! haloacetic acid +is_a: CHEBI:36685 ! chlorocarboxylic acid +relationship: has_functional_parent CHEBI:15366 ! acetic acid +relationship: is_conjugate_acid_of CHEBI:23123 ! chloroacetate +relationship: RO:0000087 CHEBI:22333 ! alkylating agent +relationship: RO:0000087 CHEBI:24527 ! herbicide + [Term] id: CHEBI:27933 name: beta-lactam antibiotic @@ -2783,6 +3373,23 @@ is_a: CHEBI:25696 ! organic anion is_a: CHEBI:35406 ! oxoanion relationship: is_conjugate_base_of CHEBI:33575 ! carboxylic acid +[Term] +id: CHEBI:29101 +name: sodium(1+) +def: "A monoatomic monocation obtained from sodium." [] +synonym: "Na(+)" RELATED [] +synonym: "Na+" RELATED [] +synonym: "sodium cation" EXACT [] +synonym: "SODIUM ION" RELATED [] +synonym: "sodium(1+)" EXACT [] +synonym: "sodium(1+) ion" EXACT [] +synonym: "sodium(I) cation" EXACT [] +is_a: CHEBI:25414 ! monoatomic monocation +is_a: CHEBI:33504 ! alkali metal cation +is_a: CHEBI:37246 ! elemental sodium +is_a: CHEBI:60242 ! monovalent inorganic cation +relationship: RO:0000087 CHEBI:77746 ! human metabolite + [Term] id: CHEBI:29195 name: cyanate @@ -2865,6 +3472,21 @@ def: "A carboxamide derived from a monocarboxylic acid." [] synonym: "monocarboxylic acid amides" RELATED [] is_a: CHEBI:37622 ! carboxamide +[Term] +id: CHEBI:29412 +name: oxonium +synonym: "[OH3](+)" RELATED [] +synonym: "aquahydrogen(1+)" EXACT [] +synonym: "H3O(+)" RELATED [] +synonym: "Hydronium cation" RELATED [] +synonym: "Hydronium ion" RELATED [] +synonym: "oxidanium" EXACT [] +synonym: "oxonium" EXACT [] +synonym: "trihydridooxygen(1+)" EXACT [] +is_a: CHEBI:33693 ! oxygen hydride +is_a: CHEBI:50313 ! onium cation +relationship: is_conjugate_acid_of CHEBI:15377 ! water + [Term] id: CHEBI:29745 name: barbiturate @@ -2874,6 +3496,17 @@ synonym: "barbiturate anion" RELATED [] is_a: CHEBI:22691 ! barbiturate anion relationship: is_conjugate_base_of CHEBI:16294 ! barbituric acid +[Term] +id: CHEBI:29793 +name: hydridodioxygen(1+) +synonym: "[HO2](+)" RELATED [] +synonym: "dioxidenium" EXACT [] +synonym: "HO2(+)" RELATED [] +synonym: "HOO(+)" RELATED [] +synonym: "hydridodioxygen(1+)" EXACT [] +is_a: CHEBI:33693 ! oxygen hydride +relationship: is_conjugate_acid_of CHEBI:15379 ! dioxygen + [Term] id: CHEBI:30089 name: acetate @@ -2891,6 +3524,37 @@ relationship: is_conjugate_base_of CHEBI:15366 ! acetic acid relationship: RO:0000087 CHEBI:75772 ! Saccharomyces cerevisiae metabolite relationship: RO:0000087 CHEBI:77746 ! human metabolite +[Term] +id: CHEBI:30099 +name: diazynediium +synonym: "[HNNH](2+)" RELATED [] +synonym: "diazynediium" EXACT [] +synonym: "HNNH(2+)" RELATED [] +is_a: CHEBI:35106 ! nitrogen hydride +relationship: is_conjugate_acid_of CHEBI:30102 ! diazynium + +[Term] +id: CHEBI:30102 +name: diazynium +synonym: "diazynium" EXACT [] +synonym: "HN2+" RELATED [] +synonym: "N#NH(+)" RELATED [] +is_a: CHEBI:35106 ! nitrogen hydride +relationship: is_conjugate_acid_of CHEBI:17997 ! dinitrogen +relationship: is_conjugate_base_of CHEBI:30099 ! diazynediium + +[Term] +id: CHEBI:30217 +name: helium atom +synonym: "2He" RELATED [] +synonym: "He" RELATED [] +synonym: "helio" RELATED [] +synonym: "Helium" RELATED [] +synonym: "helium" EXACT [] +synonym: "helium" RELATED [] +is_a: CHEBI:33309 ! noble gas atom +is_a: CHEBI:33559 ! s-block element atom + [Term] id: CHEBI:30411 name: cobalamin @@ -3360,6 +4024,14 @@ synonym: "elementary particle" EXACT [] synonym: "elementary particles" RELATED [] is_a: CHEBI:36342 ! subatomic particle +[Term] +id: CHEBI:33238 +name: monoatomic entity +def: "A monoatomic entity is a molecular entity consisting of a single atom." [] +synonym: "atomic entity" RELATED [] +synonym: "monoatomic entities" RELATED [] +is_a: CHEBI:33259 ! elemental molecular entity + [Term] id: CHEBI:33240 name: coordination entity @@ -3468,6 +4140,15 @@ synonym: "primary amide" EXACT [] synonym: "primary amides" EXACT [] is_a: CHEBI:32988 ! amide +[Term] +id: CHEBI:33259 +name: elemental molecular entity +def: "A molecular entity all atoms of which have the same atomic number." [] +synonym: "homoatomic entity" RELATED [] +synonym: "homoatomic molecular entities" RELATED [] +synonym: "homoatomic molecular entity" RELATED [] +is_a: CHEBI:23367 ! molecular entity + [Term] id: CHEBI:33261 name: organosulfur compound @@ -3477,6 +4158,29 @@ synonym: "organosulfur compounds" RELATED [] is_a: CHEBI:26835 ! sulfur molecular entity is_a: CHEBI:36962 ! organochalcogen compound +[Term] +id: CHEBI:33262 +name: elemental oxygen +is_a: CHEBI:24835 ! inorganic molecular entity +is_a: CHEBI:25806 ! oxygen molecular entity +is_a: CHEBI:33259 ! elemental molecular entity + +[Term] +id: CHEBI:33263 +name: diatomic oxygen +is_a: CHEBI:33262 ! elemental oxygen + +[Term] +id: CHEBI:33266 +name: diatomic nitrogen +is_a: CHEBI:33267 ! elemental nitrogen + +[Term] +id: CHEBI:33267 +name: elemental nitrogen +is_a: CHEBI:33465 ! elemental pnictogen +is_a: CHEBI:51143 ! nitrogen molecular entity + [Term] id: CHEBI:33273 name: polyatomic anion @@ -3550,6 +4254,16 @@ synonym: "fertiliser" RELATED [] synonym: "fertilizers" RELATED [] is_a: CHEBI:33286 ! agrochemical +[Term] +id: CHEBI:33290 +name: food +def: "Any material that can be ingested by an organism." [] +synonym: "foods" RELATED [] +synonym: "foodstuff" RELATED [] +synonym: "foodstuffs" RELATED [] +is_a: CHEBI:52211 ! physiological role +relationship: BFO:0000051 CHEBI:78295 ! food component + [Term] id: CHEBI:33292 name: fuel @@ -3563,6 +4277,14 @@ def: "A substance administered to aid diagnosis of a disease." [] synonym: "diagnostic aid" RELATED [] is_a: CHEBI:52217 ! pharmaceutical +[Term] +id: CHEBI:33296 +name: alkali metal molecular entity +def: "A molecular entity containing one or more atoms of an alkali metal." [] +synonym: "alkali metal molecular entities" RELATED [] +is_a: CHEBI:33674 ! s-block molecular entity +relationship: BFO:0000051 CHEBI:22314 ! alkali metal atom + [Term] id: CHEBI:33299 name: alkaline earth molecular entity @@ -3647,6 +4369,26 @@ synonym: "carboxylic esters" EXACT [] is_a: CHEBI:35701 ! ester is_a: CHEBI:36586 ! carbonyl compound +[Term] +id: CHEBI:33309 +name: noble gas atom +synonym: "Edelgas" RELATED [] +synonym: "Edelgase" RELATED [] +synonym: "gas noble" RELATED [] +synonym: "gases nobles" RELATED [] +synonym: "gaz noble" RELATED [] +synonym: "gaz nobles" RELATED [] +synonym: "group 18 elements" RELATED [] +synonym: "group VIII elements" RELATED [] +synonym: "inert gases" RELATED [] +synonym: "noble gas" EXACT [] +synonym: "noble gas" RELATED [] +synonym: "noble gases" EXACT [] +synonym: "rare gases" RELATED [] +is_a: CHEBI:138675 ! gas molecular entity +is_a: CHEBI:25585 ! nonmetal atom +is_a: CHEBI:33318 ! main group element atom + [Term] id: CHEBI:33318 name: main group element atom @@ -3734,6 +4476,39 @@ synonym: "sulfur oxoacid derivatives" RELATED [] is_a: CHEBI:26835 ! sulfur molecular entity is_a: CHEBI:33241 ! oxoacid derivative +[Term] +id: CHEBI:33429 +name: monoatomic monoanion +synonym: "monoatomic monoanions" RELATED [] +is_a: CHEBI:23905 ! monoatomic anion +is_a: CHEBI:36830 ! monoanion + +[Term] +id: CHEBI:33431 +name: elemental chlorine +is_a: CHEBI:23117 ! chlorine molecular entity +is_a: CHEBI:33434 ! elemental halogen + +[Term] +id: CHEBI:33432 +name: monoatomic chlorine +synonym: "atomic chlorine" RELATED [] +is_a: CHEBI:33431 ! elemental chlorine +is_a: CHEBI:33433 ! monoatomic halogen + +[Term] +id: CHEBI:33433 +name: monoatomic halogen +synonym: "monoatomic halogens" RELATED [] +is_a: CHEBI:33238 ! monoatomic entity + +[Term] +id: CHEBI:33434 +name: elemental halogen +synonym: "elemental halogen" EXACT [] +synonym: "elemental halogens" RELATED [] +is_a: CHEBI:33259 ! elemental molecular entity + [Term] id: CHEBI:33452 name: benzylic group @@ -3773,6 +4548,15 @@ is_a: CHEBI:24834 ! inorganic anion is_a: CHEBI:26082 ! phosphorus molecular entity is_a: CHEBI:33459 ! pnictogen oxoanion +[Term] +id: CHEBI:33465 +name: elemental pnictogen +synonym: "elemental pnictogen" EXACT [] +synonym: "elemental pnictogens" RELATED [] +is_a: CHEBI:24835 ! inorganic molecular entity +is_a: CHEBI:33259 ! elemental molecular entity +is_a: CHEBI:33302 ! pnictogen molecular entity + [Term] id: CHEBI:33482 name: sulfur oxoanion @@ -3808,6 +4592,12 @@ synonym: "transition metal molecular entity" RELATED [] is_a: CHEBI:23367 ! molecular entity relationship: BFO:0000051 CHEBI:27081 ! transition element atom +[Term] +id: CHEBI:33504 +name: alkali metal cation +synonym: "alkali metal cations" RELATED [] +is_a: CHEBI:25213 ! metal cation + [Term] id: CHEBI:33521 name: metal atom @@ -3872,6 +4662,14 @@ synonym: "d-block elements" RELATED [] is_a: CHEBI:27081 ! transition element atom is_a: CHEBI:33521 ! metal atom +[Term] +id: CHEBI:33563 +name: glycolipid +def: "Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent." [] +synonym: "Glycolipid" EXACT [] +synonym: "glycolipids" EXACT [] +is_a: CHEBI:35740 ! liposaccharide + [Term] id: CHEBI:33575 name: carboxylic acid @@ -3909,6 +4707,16 @@ synonym: "carbon group molecular entity" EXACT [] is_a: CHEBI:33675 ! p-block molecular entity relationship: BFO:0000051 CHEBI:33306 ! carbon group element atom +[Term] +id: CHEBI:33583 +name: noble gas molecular entity +def: "A main group molecular entity containing one or more atoms of any noble gas." [] +synonym: "noble gas compounds" RELATED [] +synonym: "noble gas molecular entities" RELATED [] +synonym: "noble gas molecular entity" EXACT [] +is_a: CHEBI:33579 ! main group molecular entity +relationship: BFO:0000051 CHEBI:33309 ! noble gas atom + [Term] id: CHEBI:33595 name: cyclic compound @@ -4089,6 +4897,16 @@ synonym: "d-block molecular entity" EXACT [] is_a: CHEBI:33497 ! transition element molecular entity relationship: BFO:0000051 CHEBI:33561 ! d-block element atom +[Term] +id: CHEBI:33679 +name: helium molecular entity +synonym: "helium compounds" RELATED [] +synonym: "helium molecular entities" RELATED [] +synonym: "helium molecular entity" EXACT [] +is_a: CHEBI:33583 ! noble gas molecular entity +is_a: CHEBI:33674 ! s-block molecular entity +relationship: BFO:0000051 CHEBI:30217 ! helium atom + [Term] id: CHEBI:33692 name: hydrides @@ -4096,6 +4914,14 @@ def: "Hydrides are chemical compounds of hydrogen with other chemical elements." is_a: CHEBI:33608 ! hydrogen molecular entity is_a: CHEBI:37577 ! heteroatomic molecular entity +[Term] +id: CHEBI:33693 +name: oxygen hydride +synonym: "hydrides of oxygen" RELATED [] +synonym: "oxygen hydride" EXACT [] +synonym: "oxygen hydrides" RELATED [] +is_a: CHEBI:36902 ! chalcogen hydride + [Term] id: CHEBI:33694 name: biomacromolecule @@ -4443,6 +5269,15 @@ name: macronutrient synonym: "macronutrients" RELATED [] is_a: CHEBI:33284 ! nutrient +[Term] +id: CHEBI:33958 +name: halide salt +synonym: "halide salts" RELATED [] +synonym: "halides" RELATED [] +is_a: CHEBI:24866 ! salt +is_a: CHEBI:37578 ! halide +relationship: BFO:0000051 CHEBI:16042 ! halide anion + [Term] id: CHEBI:34905 name: paraquat @@ -4724,6 +5559,13 @@ synonym: "NSAIDs" RELATED [] is_a: CHEBI:35472 ! anti-inflammatory drug is_a: CHEBI:35842 ! antirheumatic drug +[Term] +id: CHEBI:35479 +name: alkali metal salt +synonym: "alkali metal salts" RELATED [] +is_a: CHEBI:24866 ! salt +is_a: CHEBI:33296 ! alkali metal molecular entity + [Term] id: CHEBI:35480 name: analgesic @@ -4984,6 +5826,13 @@ synonym: "antifungal drugs" RELATED [] synonym: "antifungals" RELATED [] is_a: CHEBI:33281 ! antimicrobial agent +[Term] +id: CHEBI:35740 +name: liposaccharide +synonym: "liposaccharides" RELATED [] +is_a: CHEBI:18059 ! lipid +is_a: CHEBI:63299 ! carbohydrate derivative + [Term] id: CHEBI:35757 name: monocarboxylic acid anion @@ -5007,6 +5856,18 @@ is_a: CHEBI:33461 ! phosphorus oxoanion relationship: is_conjugate_base_of CHEBI:26078 ! phosphoric acid relationship: RO:0000087 CHEBI:77746 ! human metabolite +[Term] +id: CHEBI:35785 +name: sphingoid +def: "Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds." [] +synonym: "Spd" RELATED [] +synonym: "sphingoid" EXACT [] +synonym: "sphingoid base" RELATED [] +synonym: "sphingoid bases" RELATED [] +synonym: "sphingoids" RELATED [] +is_a: CHEBI:26739 ! sphingolipid +relationship: is_conjugate_base_of CHEBI:83876 ! cationic sphingoid + [Term] id: CHEBI:35842 name: antirheumatic drug @@ -5078,6 +5939,15 @@ synonym: "proteins" EXACT [] is_a: CHEBI:33695 ! information biomacromolecule relationship: BFO:0000051 CHEBI:16541 ! protein polypeptide chain +[Term] +id: CHEBI:36093 +name: inorganic chloride +synonym: "inorganic chloride salt" RELATED [] +synonym: "inorganic chloride salts" RELATED [] +synonym: "inorganic chlorides" RELATED [] +is_a: CHEBI:23114 ! chloride salt +is_a: CHEBI:24839 ! inorganic salt + [Term] id: CHEBI:36132 name: alicyclic ketone @@ -5205,6 +6075,12 @@ synonym: "saturated organic heteromonocyclic parents" RELATED [] is_a: CHEBI:25693 ! organic heteromonocyclic compound is_a: CHEBI:36388 ! saturated organic heterocyclic parent +[Term] +id: CHEBI:36527 +name: glycosylsphingoid +synonym: "glycosylsphingoids" RELATED [] +is_a: CHEBI:25513 ! neutral glycosphingolipid + [Term] id: CHEBI:36586 name: carbonyl compound @@ -5244,6 +6120,14 @@ synonym: "organohalogen compounds" RELATED [] is_a: CHEBI:33285 ! heteroorganic entity is_a: CHEBI:37578 ! halide +[Term] +id: CHEBI:36685 +name: chlorocarboxylic acid +def: "A carboxylic acid containing at least one chloro group." [] +synonym: "chlorocarboxylic acids" RELATED [] +is_a: CHEBI:33575 ! carboxylic acid +is_a: CHEBI:36683 ! organochlorine compound + [Term] id: CHEBI:36688 name: heterotricyclic compound @@ -5305,6 +6189,23 @@ is_a: CHEBI:33405 ! hydracid relationship: is_conjugate_acid_of CHEBI:17514 ! cyanide relationship: is_tautomer_of CHEBI:18407 ! hydrogen cyanide +[Term] +id: CHEBI:36902 +name: chalcogen hydride +synonym: "chalcogen hydride" EXACT [] +synonym: "chalcogen hydrides" RELATED [] +is_a: CHEBI:33242 ! inorganic hydride +is_a: CHEBI:33304 ! chalcogen molecular entity + +[Term] +id: CHEBI:36908 +name: argon molecular entity +synonym: "argon compounds" RELATED [] +synonym: "argon molecular entities" RELATED [] +synonym: "argon molecular entity" EXACT [] +is_a: CHEBI:33583 ! noble gas molecular entity +relationship: BFO:0000051 CHEBI:49475 ! argon atom + [Term] id: CHEBI:36914 name: inorganic ion @@ -5391,6 +6292,11 @@ synonym: "mononuclear hydrides" RELATED [] synonym: "mononuclear parent hydrides" EXACT [] is_a: CHEBI:33692 ! hydrides +[Term] +id: CHEBI:37246 +name: elemental sodium +is_a: CHEBI:26712 ! sodium molecular entity + [Term] id: CHEBI:37323 name: 7,8-dimethylisoalloxazine @@ -5623,6 +6529,12 @@ def: "A drug that has a strengthening effect on the heart or that can increase c synonym: "cardiotonic drugs" RELATED [] is_a: CHEBI:35554 ! cardiovascular drug +[Term] +id: CHEBI:38164 +name: organic heteropentacyclic compound +synonym: "organic heteropentacyclic compounds" RELATED [] +is_a: CHEBI:38166 ! organic heteropolycyclic compound + [Term] id: CHEBI:38166 name: organic heteropolycyclic compound @@ -5784,6 +6696,13 @@ synonym: "Na channel blocker" RELATED [] synonym: "sodium channel blockers" RELATED [] is_a: CHEBI:39000 ! sodium channel modulator +[Term] +id: CHEBI:38702 +name: inorganic sodium salt +synonym: "inorganic sodium salts" RELATED [] +is_a: CHEBI:24839 ! inorganic salt +is_a: CHEBI:26714 ! sodium salt + [Term] id: CHEBI:38867 name: anaesthetic @@ -6137,6 +7056,42 @@ synonym: "CARBOXY GROUP" EXACT [] synonym: "carboxyl group" RELATED [] is_a: CHEBI:33249 ! organyl group +[Term] +id: CHEBI:46963 +name: 2-aminooctadecene-1,3-diol +def: "An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2." [] +synonym: "2-aminooctadecene-1,3-diol" EXACT [] +synonym: "2-aminooctadecene-1,3-diols" RELATED [] +is_a: CHEBI:22501 ! aminodiol +is_a: CHEBI:35785 ! sphingoid + +[Term] +id: CHEBI:46964 +name: 2-aminooctadec-4-ene-1,3-diol +def: "A 2-aminooctadecene-1,3-diol having its double bond at position 4." [] +synonym: "2-aminooctadec-4-ene-1,3-diol" EXACT [] +synonym: "2-aminooctadec-4-ene-1,3-diols" RELATED [] +is_a: CHEBI:46963 ! 2-aminooctadecene-1,3-diol + +[Term] +id: CHEBI:46965 +name: (2R,3S)-2-aminooctadec-4-ene-1,3-diol +def: "A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration." [] +synonym: "(2R,3S)-2-aminooctadec-4-ene-1,3-diol" EXACT [] +is_a: CHEBI:46964 ! 2-aminooctadec-4-ene-1,3-diol +relationship: is_enantiomer_of CHEBI:26743 ! sphing-4-enine + +[Term] +id: CHEBI:46967 +name: L-erythro-sphingosine +def: "A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry." [] +synonym: "(2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol" EXACT [] +synonym: "L-Erythro-c18-sphingosine" RELATED [] +synonym: "L-erythro-sphing-4-enine" RELATED [] +is_a: CHEBI:46965 ! (2R,3S)-2-aminooctadec-4-ene-1,3-diol +relationship: is_conjugate_base_of CHEBI:77956 ! L-erythro-sphingosine(1+) +relationship: is_enantiomer_of CHEBI:16393 ! sphingosine + [Term] id: CHEBI:47622 name: acetate ester @@ -6196,6 +7151,23 @@ synonym: "sulfur oxides" RELATED [] is_a: CHEBI:24836 ! inorganic oxide is_a: CHEBI:26835 ! sulfur molecular entity +[Term] +id: CHEBI:48210 +name: cyclopentafurofurochromene +synonym: "cyclopentafurofurochromenes" RELATED [] +is_a: CHEBI:38104 ! oxacycle +is_a: CHEBI:38164 ! organic heteropentacyclic compound + +[Term] +id: CHEBI:48219 +name: disinfectant +def: "An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity." [] +synonym: "desinfectant" RELATED [] +synonym: "Desinfektionsmittel" RELATED [] +synonym: "disinfectants" RELATED [] +synonym: "disinfecting agent" RELATED [] +is_a: CHEBI:33281 ! antimicrobial agent + [Term] id: CHEBI:48278 name: serotonergic drug @@ -6436,6 +7408,16 @@ is_a: CHEBI:49168 ! dopa is_a: CHEBI:84124 ! D-tyrosine derivative relationship: is_enantiomer_of CHEBI:15765 ! L-dopa +[Term] +id: CHEBI:49475 +name: argon atom +synonym: "18Ar" RELATED [] +synonym: "Ar" RELATED [] +synonym: "argon" EXACT [] +synonym: "argon" RELATED [] +is_a: CHEBI:33309 ! noble gas atom +is_a: CHEBI:33560 ! p-block element atom + [Term] id: CHEBI:49637 name: hydrogen atom @@ -6550,6 +7532,16 @@ synonym: "onium ion" RELATED [] synonym: "onium ions" RELATED [] is_a: CHEBI:50312 ! onium compound +[Term] +id: CHEBI:50315 +name: chloronium +synonym: "[ClH2](+)" RELATED [] +synonym: "chloranium" EXACT [] +synonym: "chloronium" EXACT [] +synonym: "H2Cl(+)" RELATED [] +is_a: CHEBI:50313 ! onium cation +relationship: is_conjugate_acid_of CHEBI:17883 ! hydrogen chloride + [Term] id: CHEBI:50325 name: proteinogenic amino-acid side-chain group @@ -6737,6 +7729,15 @@ synonym: "organic molecular entities" RELATED [] is_a: CHEBI:33582 ! carbon group molecular entity relationship: BFO:0000051 CHEBI:27594 ! carbon atom +[Term] +id: CHEBI:50902 +name: genotoxin +def: "A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells." [] +synonym: "genotoxic agent" RELATED [] +synonym: "genotoxic agents" RELATED [] +synonym: "genotoxins" RELATED [] +is_a: CHEBI:52209 ! aetiopathogenetic role + [Term] id: CHEBI:50903 name: carcinogenic agent @@ -6980,6 +7981,13 @@ synonym: "medicament" RELATED [] synonym: "pharmaceuticals" RELATED [] is_a: CHEBI:33232 ! application +[Term] +id: CHEBI:52625 +name: inorganic hydroxy compound +synonym: "inorganic hydroxides" RELATED [] +is_a: CHEBI:24651 ! hydroxides +is_a: CHEBI:24835 ! inorganic molecular entity + [Term] id: CHEBI:53000 name: epitope @@ -7048,6 +8056,17 @@ synonym: "barbiturate dianion" RELATED [] is_a: CHEBI:25696 ! organic anion relationship: is_conjugate_base_of CHEBI:16294 ! barbituric acid +[Term] +id: CHEBI:57756 +name: sphingosine(1+) +def: "The cationic sphingoid resulting from the protonation of the amino group of sphingosine." [] +synonym: "(2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium" EXACT [] +synonym: "sphing-4-enine" RELATED [] +is_a: CHEBI:84410 ! sphingoid base(1+) +relationship: is_conjugate_acid_of CHEBI:16393 ! sphingosine +relationship: is_enantiomer_of CHEBI:77956 ! L-erythro-sphingosine(1+) +relationship: RO:0000087 CHEBI:77746 ! human metabolite + [Term] id: CHEBI:57869 name: 6-aminopenicillanic acid zwitterion @@ -7059,6 +8078,17 @@ is_a: CHEBI:35238 ! amino acid zwitterion relationship: is_conjugate_acid_of CHEBI:30938 ! 6-aminopenicillanate relationship: is_tautomer_of CHEBI:16705 ! 6-aminopenicillanic acid +[Term] +id: CHEBI:57934 +name: psychosine(1+) +def: "The ammonium ion resulting from the protonation of the amino group of psychosine." [] +synonym: "(2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium" EXACT [] +synonym: "(2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium" RELATED [] +synonym: "psychosine" RELATED [] +is_a: CHEBI:35274 ! ammonium ion +relationship: is_conjugate_acid_of CHEBI:16874 ! psychosine +relationship: RO:0000087 CHEBI:77746 ! human metabolite + [Term] id: CHEBI:57981 name: D-phenylalanine zwitterion @@ -7493,6 +8523,21 @@ def: "A carbohydrate derivative arising formally from the elimination of water f synonym: "glycosyl compounds" RELATED [] is_a: CHEBI:63299 ! carbohydrate derivative +[Term] +id: CHEBI:63248 +name: oxidising agent +def: "A substance that removes electrons from another reactant in a redox reaction." [] +synonym: "oxidant" RELATED [] +synonym: "oxidants" RELATED [] +synonym: "oxidiser" RELATED [] +synonym: "oxidisers" RELATED [] +synonym: "oxidising agents" RELATED [] +synonym: "oxidizer" RELATED [] +synonym: "oxidizers" RELATED [] +synonym: "oxidizing agent" RELATED [] +synonym: "oxidizing agents" RELATED [] +is_a: CHEBI:51086 ! chemical role + [Term] id: CHEBI:63299 name: carbohydrate derivative @@ -8050,6 +9095,20 @@ def: "Any metabolite produced by metabolism of a xenobiotic compound." [] synonym: "xenobiotic metabolites" RELATED [] is_a: CHEBI:25212 ! metabolite +[Term] +id: CHEBI:76413 +name: greenhouse gas +def: "A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'." [] +synonym: "greenhouse gases" RELATED [] +is_a: CHEBI:51086 ! chemical role + +[Term] +id: CHEBI:76414 +name: propellant +def: "A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans." [] +synonym: "propellants" RELATED [] +is_a: CHEBI:33232 ! application + [Term] id: CHEBI:76668 name: EC 2.7.* (P-containing group transferase) inhibitor @@ -8562,6 +9621,32 @@ synonym: "N-acetylaminohydrolase inhibitor" RELATED [] synonym: "N-acetylaminohydrolase inhibitors" RELATED [] is_a: CHEBI:76807 ! EC 3.5.1.* (non-peptide linear amide C-N hydrolase) inhibitor +[Term] +id: CHEBI:77956 +name: L-erythro-sphingosine(1+) +def: "A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3." [] +synonym: "(2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium" EXACT [] +synonym: "D-erythro-sphing-4-enine" RELATED [] +synonym: "L-erythro-sphing-4-enine(1+)" RELATED [] +is_a: CHEBI:83876 ! cationic sphingoid +relationship: is_conjugate_acid_of CHEBI:46967 ! L-erythro-sphingosine +relationship: is_enantiomer_of CHEBI:57756 ! sphingosine(1+) + +[Term] +id: CHEBI:77974 +name: food packaging gas +def: "A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container." [] +synonym: "food packaging gases" RELATED [] +is_a: CHEBI:64047 ! food additive + +[Term] +id: CHEBI:78017 +name: food propellant +def: "A propellant that is used to expel foods from an aerosol container." [] +synonym: "food propellants" RELATED [] +is_a: CHEBI:64047 ! food additive +is_a: CHEBI:76414 ! propellant + [Term] id: CHEBI:78113 name: fatty acid anion 3:0 @@ -8759,6 +9844,17 @@ synonym: "non-proteinogenic L-alpha-amino acids" RELATED [] is_a: CHEBI:15705 ! L-alpha-amino acid is_a: CHEBI:83925 ! non-proteinogenic alpha-amino acid +[Term] +id: CHEBI:83876 +name: cationic sphingoid +def: "An organic cation obtained by protonation of the amino function of any sphingoid" [] +synonym: "cationic sphingoids" RELATED [] +synonym: "sphingoid cation" RELATED [] +synonym: "sphingoid cations" RELATED [] +is_a: CHEBI:25697 ! organic cation +is_a: CHEBI:35274 ! ammonium ion +relationship: is_conjugate_acid_of CHEBI:35785 ! sphingoid + [Term] id: CHEBI:83925 name: non-proteinogenic alpha-amino acid @@ -8806,6 +9902,14 @@ is_a: CHEBI:25985 ! phenylalanine derivative is_a: CHEBI:83811 ! proteinogenic amino acid derivative relationship: has_functional_parent CHEBI:17295 ! L-phenylalanine +[Term] +id: CHEBI:84410 +name: sphingoid base(1+) +def: "A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base." [] +synonym: "2-amino-1,3-dihydroxysphingoid base(1+)" RELATED [] +synonym: "a sphingoid base" RELATED [] +is_a: CHEBI:83876 ! cationic sphingoid + [Term] id: CHEBI:84735 name: algal metabolite @@ -8820,6 +9924,16 @@ def: "Any metabolite (endogenous or exogenous) found in human blood serum sample synonym: "human blood serum metabolites" RELATED [] is_a: CHEBI:77746 ! human metabolite +[Term] +id: CHEBI:85638 +name: haloacetate(1-) +def: "A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid." [] +synonym: "a haloacetate" RELATED [] +synonym: "haloacetate (1-)" RELATED [] +is_a: CHEBI:35757 ! monocarboxylic acid anion +relationship: has_functional_parent CHEBI:30089 ! acetate +relationship: is_conjugate_base_of CHEBI:16277 ! haloacetic acid + [Term] id: CHEBI:86327 name: antifungal drug diff --git a/src/ontology/imports/chebi_import.owl b/src/ontology/imports/chebi_import.owl index 86bd65a44e..4d097db134 100644 --- a/src/ontology/imports/chebi_import.owl +++ b/src/ontology/imports/chebi_import.owl @@ -376,6 +376,19 @@ + + + + + A molecular entity that can transfer an electron to another molecular entity. + electron donor + Elektronendonator + donneur d'electron + electron donor + + + + @@ -626,6 +639,158 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An oxygen hydride consisting of an oxygen atom that is covalently bonded to two hydrogen atoms. + WATER + Water + oxidane + water + BOUND WATER + H2O + HOH + Wasser + [OH2] + acqua + agua + aqua + dihydridooxygen + dihydrogen oxide + eau + hydrogen hydroxide + water + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + dioxygen + Disauerstoff + E 948 + E-948 + E948 + O2 + OXYGEN MOLECULE + Oxygen + [OO] + dioxygene + molecular oxygen + dioxygen + + + + @@ -911,6 +1076,25 @@ + + + + + + A monoatomic monoanion resulting from the addition of an electron to any halogen atom. + halide ions + HX + Halide + a halide anion + halide anions + halide(1-) + halides + halogen anion + halide anion + + + + @@ -1095,6 +1279,58 @@ + + + + + + + + + + + + + + + + + hydridooxygenate(1-) + hydroxide + oxidanide + HO- + HYDROXIDE ION + Hydroxide ion + OH(-) + OH- + hydroxide + + + + + + + + + + + + + + + + + + + + + + A monocarboxylic acid that is acetic acid in which one of the methyl hydrogens has been replaced by a halogen atom. + haloacetic acid + + + + @@ -1135,6 +1371,157 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A sphing-4-enine in which the double bond is trans. + (2S,3R,4E)-2-aminooctadec-4-ene-1,3-diol + Sphingosine + (2S,3R)-(E)-2-amino-1,3-dihydroxy-4-octadecene + (2S,3R,4E)-2-amino-3-hydroxyoctadec-4-ene-1-ol + (2S,3R,4E)-2-amino-4-octadecene-1,3-diol + (2S,3R,E)-2-aminooctadec-4-ene-1,3-diol + (4E)-sphing-4-enine + (4E)-sphingenine + (E)-2-amino-4-octadecan-1,3-diol + (E)-D-erythro-4-octadecene-1,3-diol + 2-amino-4-octadecene-1,3-diol + C18 sphingosine + D-(+)-erythro-1,3-dihydroxy-2-amino-4-trans-octadecene + D-erythro-sphingosine + Sph + Sphing-4-enine + Sphingenine + Sphingoid + Sphingosine d18:1 + sphingosin + trans-4-sphingenine + trans-D-erythro-2-amino-4-octadecene-1,3-diol + sphingosine + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A one-carbon compound with formula CO2 in which the carbon is attached to each oxygen atom by a double bond. A colourless, odourless gas under normal conditions, it is produced during respiration by all animals, fungi and microorganisms that depend directly or indirectly on living or decaying plants for food. + CARBON DIOXIDE + Carbon dioxide + carbon dioxide + dioxidocarbon + CO2 + E 290 + E-290 + E290 + R-744 + [CO2] + carbonic anhydride + carbon dioxide + + + + @@ -1371,6 +1758,120 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An aldehyde resulting from the formal oxidation of methanol. + FORMALDEHYDE + Formaldehyde + formaldehyde + FORMALIN + Formaldehyd + Formalin + Methanal + Methylene oxide + Oxomethane + Oxomethylene + formaldehyde + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A glycosylsphingoid consisting of sphingosine having a beta-D-galactosyl residue attached at the 1-position. + (2S,3R,4E)-2-amino-3-hydroxyoctadec-4-en-1-yl beta-D-galactopyranoside + Psychosine + (2S,3R,4E)-2-amino-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-ene + 1-O-beta-D-galactopyranosylsphingosine + 1-O-beta-D-galactosylsphingosine + 1-beta-D-galactosphingosine + 1-beta-D-galactosylsphingosine + Galactosylsphingosine + O-Galactosylsphingosine + O-galactosylsphingosine + sphingosine galactoside + psychosine + + + + @@ -2254,6 +2755,50 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + A mononuclear parent hydride consisting of covalently bonded hydrogen and chlorine atoms. + Hydrogen chloride + chlorane + chloridohydrogen + hydrogen chloride + Chlorwasserstoff + HCl + Hydrochloride + Hydrogenchlorid + Wasserstoffchlorid + [HCl] + chlorure d'hydrogene + cloruro de hidrogeno + hydrochloric acid + hydrogen chloride + + + + @@ -2319,27 +2864,100 @@ - - + + + + + An optically active form of tyrosine having L-configuration. + L-Tyrosine + L-tyrosine + (-)-alpha-amino-p-hydroxyhydrocinnamic acid + (2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid + (S)-(-)-Tyrosine + (S)-2-Amino-3-(p-hydroxyphenyl)propionic acid + (S)-3-(p-Hydroxyphenyl)alanine + (S)-Tyrosine + (S)-alpha-amino-4-hydroxybenzenepropanoic acid + 4-hydroxy-L-phenylalanine + L-Tyrosin + TYROSINE + Tyr + Tyrosine + Y + L-tyrosine + + + + + + + + + + + + + + + + + + + + + + + + + + + + A halide anion formed when chlorine picks up an electron to form an an anion. + Chloride + chloride + chloride(1-) + CHLORIDE ION + Chloride ion + Chloride(1-) + Chlorine anion + Cl(-) + Cl- + chloride + + + + + + + + + + + + + + + + + + + + + + + + + + - An optically active form of tyrosine having L-configuration. - L-Tyrosine - L-tyrosine - (-)-alpha-amino-p-hydroxyhydrocinnamic acid - (2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid - (S)-(-)-Tyrosine - (S)-2-Amino-3-(p-hydroxyphenyl)propionic acid - (S)-3-(p-Hydroxyphenyl)alanine - (S)-Tyrosine - (S)-alpha-amino-4-hydroxybenzenepropanoic acid - 4-hydroxy-L-phenylalanine - L-Tyrosin - TYROSINE - Tyr - Tyrosine - Y - L-tyrosine + An elemental molecule consisting of two trivalently-bonded nitrogen atoms. + dinitrogen + N#N + N2 + Nitrogen + molecular nitrogen + dinitrogen @@ -2421,6 +3039,25 @@ + + + + + + + + + + + hydrogen halide + hydrogen halides + HX + hydrogen halides + hydrogen halide + + + + @@ -2707,6 +3344,23 @@ + + + + + + + + + + + Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins + aflatoxins + aflatoxin + + + + @@ -2728,6 +3382,25 @@ + + + + + + + alkali metals + Alkalimetall + Alkalimetalle + alkali metal + metal alcalin + metal alcalino + metales alcalinos + metaux alcalins + alkali metal atom + + + + @@ -2749,6 +3422,44 @@ + + + + + Highly reactive chemical that introduces alkyl radicals into biologically active molecules and thereby prevents their proper functioning. It could be used as an antineoplastic agent, but it might be very toxic, with carcinogenic, mutagenic, teratogenic, and immunosuppressant actions. It could also be used as a component of poison gases. + alkylating agent + + + + + + + + + + An alcohol containing an amino functional group in addition to the alcohol-defining hydroxy group. + amino alcohols + aminoalcohol + aminoalcohols + amino alcohol + + + + + + + + + + An amino alcohol having two hydroxy functional groups. + amino diol + amino diols + aminodiols + aminodiol + + + + @@ -2883,6 +3594,38 @@ + + + + + cadmium + 48Cd + Cd + Kadmium + cadmio + cadmium + cadmium atom + + + + + + + + + + + + + + + cadmium compounds + cadmium molecular entities + cadmium molecular entity + + + + @@ -2963,6 +3706,24 @@ + + + + + + + + + + + + chloride salts + chlorides + chloride salt + + + + @@ -3002,6 +3763,35 @@ + + + + + + + + + + + + + + + + + A haloacetate(1-) resulting from the deprotonation of the carboxy group of chloroacetic acid. + chloroacetate + Chloroacetic acid ion(1-) + chloroacetate anion + chloroacetate(1-) + mono-chloroacetate + monochloroacetate anion + monochloroacetic acid anion + chloroacetate + + + + @@ -3184,6 +3974,28 @@ + + + + + + monoatomic anions + monoatomic anion + + + + + + + + + + monoatomic cations + monoatomic cation + + + + @@ -3249,6 +4061,18 @@ + + + + + + A glycosphingolipid is a glycolipid that is a carbohydrate-containing derivative of a sphingoid or ceramide. It is understood that the carbohydrate residue is attached by a glycosidic linkage to O-1 of the sphingoid. + glycosphingolipids + glycosphingolipid + + + + @@ -3558,6 +4382,61 @@ + + + + + + anorganisches Salz + inorganic salts + inorganic salt + + + + + + + + + + + + + + + + + + + + + A salt is an assembly of cations and anions. + salt + Salz + Salze + ionic compound + ionic compounds + sal + sales + salts + sel + sels + salt + + + + + + + + + + monoatomic ions + monoatomic ion + + + + @@ -3710,6 +4589,18 @@ + + + + + + a metal cation + metal cations + metal cation + + + + @@ -3763,6 +4654,19 @@ + + + + + + A molecule all atoms of which have the same atomic number. + homoatomic molecule + homoatomic molecules + elemental molecule + + + + @@ -3818,6 +4722,47 @@ + + + + + monoatomic monocations + monovalent cation + monovalent inorganic cations + monoatomic monocation + + + + + + + + + An agent that increases the frequency of mutations above the normal background level, usually by interacting directly with DNA and causing it damage, including base substitution. + mutagene + mutagenes + mutagenic agent + mutageno + mutagenos + mutagens + mutagen + + + + + + + + + + Poisonous substance produced by fungi. + fungal toxins + mycotoxins + mycotoxin + + + + @@ -3829,6 +4774,17 @@ + + + + + Any glycosphingolipid containing unsubstituted glycosyl moieties. + neutral glycosphingolipids + neutral glycosphingolipid + + + + @@ -4394,11 +5350,137 @@ - An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. - SCFA - SCFAs - short-chain fatty acids - short-chain fatty acid + An aliphatic monocarboxylic acid with a chain length of less than C6. If any non-hydrocarbon substituent is present, the compound is not normally regarded as a short-chain fatty acid. + SCFA + SCFAs + short-chain fatty acids + short-chain fatty acid + + + + + + + + + + + + + + + sodium + 11Na + Na + Natrium + natrium + sodio + sodium + sodium atom + + + + + + + + + + An inorganic chloride salt having sodium(1+) as the counterion. + sodium chloride + Kochsalz + NaCl + Natriumchlorid + chlorure de sodium + cloruro sodico + common salt + halite + natrii chloridum + rock salt + salt + table salt + sodium chloride + + + + + + + + + + + + + + + sodium compounds + sodium molecular entities + sodium molecular entity + + + + + + + + + + + + + + + + Any alkali metal salt having sodium(1+) as the cation. + Natriumsalz + Natriumsalze + sodium salts + sodium salt + + + + + + + + + A 2-aminooctadecene-1,3-diol having (2S,3R)-configuration. + sphingenines + sphingenine + + + + + + + + + + + Sphingolipids are a complex family of compounds that share a common structural feature, a sphingoid base backbone. + sphingolipids + sphingolipid + + + + + + + + + + + + + + + + A sphingenine in which the C=C double bond is located at the 4-position. + (2S,3R)-2-aminooctadec-4-ene-1,3-diol + sphing-4-enine + 4-sphingenine + sphing-4-enine @@ -4917,6 +5999,56 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent. + Chloroacetic acid + chloroacetic acid + 2-chloro-acetic acid + 2-chloro-ethanoic acid + 2-chloroacetic acid + Acide chloracetique + Acide chloroacetique + Acide monochloracetique + CAA + Chloroethanoic acid + Monochloressigsaeure + alpha-chloro-acetic acid + chloracetic acid + monochloroacetic acid + monochloroethanoic acid + chloroacetic acid + + + + @@ -5382,6 +6514,32 @@ + + + + + + + + + + + + + + A monoatomic monocation obtained from sodium. + sodium cation + sodium(1+) + sodium(1+) ion + sodium(I) cation + Na(+) + Na+ + SODIUM ION + sodium(1+) + + + + @@ -5538,6 +6696,30 @@ + + + + + + + + + + + + aquahydrogen(1+) + oxidanium + oxonium + trihydridooxygen(1+) + H3O(+) + Hydronium cation + Hydronium ion + [OH3](+) + oxonium + + + + @@ -5556,6 +6738,26 @@ + + + + + + + + + + + dioxidenium + hydridodioxygen(1+) + HO2(+) + HOO(+) + [HO2](+) + hydridodioxygen(1+) + + + + @@ -5592,6 +6794,64 @@ + + + + + + + + + + + diazynediium + HNNH(2+) + [HNNH](2+) + diazynediium + + + + + + + + + + + + + + + + + + + + + diazynium + HN2+ + N#NH(+) + diazynium + + + + + + + + + + helium + 2He + He + Helium + helio + helium + helium atom + + + + @@ -6591,6 +7851,18 @@ + + + + + A monoatomic entity is a molecular entity consisting of a single atom. + atomic entity + monoatomic entities + monoatomic entity + + + + @@ -6768,6 +8040,19 @@ + + + + + A molecular entity all atoms of which have the same atomic number. + homoatomic entity + homoatomic molecular entities + homoatomic molecular entity + elemental molecular entity + + + + @@ -6781,6 +8066,45 @@ + + + + + + + elemental oxygen + + + + + + + + + diatomic oxygen + + + + + + + + + diatomic nitrogen + + + + + + + + + + elemental nitrogen + + + + @@ -6886,6 +8210,25 @@ + + + + + + + + + + + Any material that can be ingested by an organism. + foods + foodstuff + foodstuffs + food + + + + @@ -6907,6 +8250,23 @@ + + + + + + + + + + + A molecular entity containing one or more atoms of an alkali metal. + alkali metal molecular entities + alkali metal molecular entity + + + + @@ -7034,6 +8394,30 @@ + + + + + + + noble gas + noble gases + Edelgas + Edelgase + gas noble + gases nobles + gaz noble + gaz nobles + group 18 elements + group VIII elements + inert gases + noble gas + rare gases + noble gas atom + + + + @@ -7171,6 +8555,59 @@ + + + + + + monoatomic monoanions + monoatomic monoanion + + + + + + + + + + elemental chlorine + + + + + + + + + + atomic chlorine + monoatomic chlorine + + + + + + + + + monoatomic halogens + monoatomic halogen + + + + + + + + + elemental halogen + elemental halogens + elemental halogen + + + + @@ -7226,6 +8663,19 @@ + + + + + + + elemental pnictogen + elemental pnictogens + elemental pnictogen + + + + @@ -7287,6 +8737,16 @@ + + + + + alkali metal cations + alkali metal cation + + + + @@ -7394,6 +8854,18 @@ + + + + + Any member of class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar part acylated by one or more fatty acids and the glycerol part may be absent. + Glycolipid + glycolipids + glycolipid + + + + @@ -7463,6 +8935,25 @@ + + + + + + + + + + + A main group molecular entity containing one or more atoms of any noble gas. + noble gas molecular entity + noble gas compounds + noble gas molecular entities + noble gas molecular entity + + + + @@ -7756,6 +9247,25 @@ + + + + + + + + + + + + helium molecular entity + helium compounds + helium molecular entities + helium molecular entity + + + + @@ -7767,6 +9277,18 @@ + + + + + oxygen hydride + hydrides of oxygen + oxygen hydrides + oxygen hydride + + + + @@ -8337,6 +9859,24 @@ + + + + + + + + + + + + halide salts + halides + halide salt + + + + @@ -8755,6 +10295,17 @@ + + + + + + alkali metal salts + alkali metal salt + + + + @@ -9119,6 +10670,17 @@ + + + + + + liposaccharides + liposaccharide + + + + @@ -9165,6 +10727,27 @@ + + + + + + + + + + + Sphinganine, its homologs and stereoisomers, and the hydroxy and unsaturated derivatives of these compounds. + sphingoid + Spd + sphingoid base + sphingoid bases + sphingoids + sphingoid + + + + @@ -9278,6 +10861,19 @@ + + + + + + inorganic chloride salt + inorganic chloride salts + inorganic chlorides + inorganic chloride + + + + @@ -9484,6 +11080,16 @@ + + + + + glycosylsphingoids + glycosylsphingoid + + + + @@ -9549,6 +11155,18 @@ + + + + + + A carboxylic acid containing at least one chloro group. + chlorocarboxylic acids + chlorocarboxylic acid + + + + @@ -9648,6 +11266,36 @@ + + + + + + chalcogen hydride + chalcogen hydrides + chalcogen hydride + + + + + + + + + + + + + + + argon molecular entity + argon compounds + argon molecular entities + argon molecular entity + + + + @@ -9784,6 +11432,15 @@ + + + + + elemental sodium + + + + @@ -10150,6 +11807,16 @@ + + + + + organic heteropentacyclic compounds + organic heteropentacyclic compound + + + + @@ -10383,6 +12050,17 @@ + + + + + + inorganic sodium salts + inorganic sodium salt + + + + @@ -11007,6 +12685,73 @@ + + + + + + An aminodiol composed of any octadecene having hydroxy functional groups at positions 1 and 3 and an amino substituent at position 2. + 2-aminooctadecene-1,3-diol + 2-aminooctadecene-1,3-diols + 2-aminooctadecene-1,3-diol + + + + + + + + + A 2-aminooctadecene-1,3-diol having its double bond at position 4. + 2-aminooctadec-4-ene-1,3-diol + 2-aminooctadec-4-ene-1,3-diols + 2-aminooctadec-4-ene-1,3-diol + + + + + + + + + + + + + + + A 2-aminooctadec-4-ene-1,3-diol having (2R,3S)-configuration. + (2R,3S)-2-aminooctadec-4-ene-1,3-diol + (2R,3S)-2-aminooctadec-4-ene-1,3-diol + + + + + + + + + + + + + + + + + + + + + A (2R,3S)-2-aminooctadec-4-ene-1,3-diol in which the double bond has E geochemistry. + (2R,3S,4E)-2-aminooctadec-4-ene-1,3-diol + L-Erythro-c18-sphingosine + L-erythro-sphing-4-enine + L-erythro-sphingosine + + + + @@ -11104,6 +12849,31 @@ + + + + + + cyclopentafurofurochromenes + cyclopentafurofurochromene + + + + + + + + + An antimicrobial agent that is applied to non-living objects to destroy harmful microorganisms or to inhibit their activity. + Desinfektionsmittel + desinfectant + disinfectants + disinfecting agent + disinfectant + + + + @@ -11461,6 +13231,20 @@ + + + + + + argon + 18Ar + Ar + argon + argon atom + + + + @@ -11633,6 +13417,25 @@ + + + + + + + + + + + chloranium + chloronium + H2Cl(+) + [ClH2](+) + chloronium + + + + @@ -11906,6 +13709,19 @@ + + + + + A role played by a chemical compound to induce direct or indirect DNA damage. Such damage can potentially lead to the formation of a malignant tumour, but DNA damage does not lead inevitably to the creation of cancerous cells. + genotoxic agent + genotoxic agents + genotoxins + genotoxin + + + + @@ -12293,6 +14109,17 @@ + + + + + + inorganic hydroxides + inorganic hydroxy compound + + + + @@ -12419,6 +14246,36 @@ + + + + + + + + + + + + + + + + + + + + + + + The cationic sphingoid resulting from the protonation of the amino group of sphingosine. + (2S,3R,4E)-1,3-dihydroxyoctadec-4-en-2-aminium + sphing-4-enine + sphingosine(1+) + + + + @@ -12444,6 +14301,31 @@ + + + + + + + + + + + + + + + + + The ammonium ion resulting from the protonation of the amino group of psychosine. + (2S,3R,4E)-1-(beta-D-galactopyranosyloxy)-3-hydroxyoctadec-4-en-2-aminium + (2S,3R,4E)-3-hydroxy-1-{[(2R,3R,4S,5R,6R)-3,4,5-trihydroxy-6-(hydroxymethyl)oxan-2-yl]oxy}octadec-4-en-2-aminium + psychosine + psychosine(1+) + + + + @@ -13227,6 +15109,25 @@ + + + + + A substance that removes electrons from another reactant in a redox reaction. + oxidant + oxidants + oxidiser + oxidisers + oxidising agents + oxidizer + oxidizers + oxidizing agent + oxidizing agents + oxidising agent + + + + @@ -13982,6 +15883,28 @@ + + + + + A gas in an atmosphere that absorbs and emits radiation within the thermal infrared range, so contributing to the 'greenhouse effect'. + greenhouse gases + greenhouse gas + + + + + + + + + A compressed gas or liquid with a boiling point lower than room temperature which to used to propel and dispense liquids such as deodorants, insecticides, paints, etc. from aerosol cans. + propellants + propellant + + + + @@ -14651,6 +16574,54 @@ + + + + + + + + + + + + + + + + + A cationic sphingoid resulting from the protonation of the amino group of L-erythro-sphingosine; major species at pH 7.3. + (2R,3S,4E)-1,3-dihydroxyoctadec-4-en-2-aminium + D-erythro-sphing-4-enine + L-erythro-sphing-4-enine(1+) + L-erythro-sphingosine(1+) + + + + + + + + + A food additive that is a (generally inert) gas which is used to envelop foodstuffs during packing and so protect them from unwanted chemical reactions such as food spoilage or oxidation during subsequent transport and storage. The term includes propellant gases, used to expel foods from a container. + food packaging gases + food packaging gas + + + + + + + + + + A propellant that is used to expel foods from an aerosol container. + food propellants + food propellant + + + + @@ -14971,6 +16942,26 @@ + + + + + + + + + + + + An organic cation obtained by protonation of the amino function of any sphingoid + cationic sphingoids + sphingoid cation + sphingoid cations + cationic sphingoid + + + + @@ -15058,6 +17049,18 @@ + + + + + A cationic sphingoid obtained by protonation of the amino group of any 2-amino-1,3-dihydroxysphingoid base. + 2-amino-1,3-dihydroxysphingoid base(1+) + a sphingoid base + sphingoid base(1+) + + + + @@ -15080,6 +17083,30 @@ + + + + + + + + + + + + + + + + + A monocarboxylic acid anion resulting from the deprotonation of the carboxy group of a haloacetic acid. + a haloacetate + haloacetate (1-) + haloacetate(1-) + + + + diff --git a/src/ontology/imports/cl_import.obo b/src/ontology/imports/cl_import.obo index 6ed1ba3b59..4de5cfd85f 100644 --- a/src/ontology/imports/cl_import.obo +++ b/src/ontology/imports/cl_import.obo @@ -1,6 +1,5 @@ format-version: 1.2 ontology: mondo/imports/cl_import -owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\n\n############################\n# Classes\n############################\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectComplementOf(ObjectSomeValuesFrom( ))))\n\n\nEquivalentClasses(ObjectComplementOf(ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( ))\nEquivalentClasses(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\nSubClassOf(ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ))\n) [Term] id: CL:0000000 @@ -2542,6 +2541,29 @@ is_a: CL:0000738 {is_inferred="true"} ! leukocyte intersection_of: CL:0000738 ! leukocyte intersection_of: RO:0002202 CL:0000049 ! common myeloid progenitor +[Term] +id: CL:0000771 +name: eosinophil +namespace: cell +def: "Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive." [GOC:add, GOC:amm, GOC:dsd, GOC:tfm, ISBN:0721601464, PMCID:PMC2626675, PMID:10914487, PMID:1662676] +comment: Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. +synonym: "eosinocyte" EXACT [] +synonym: "eosinophilic granulocyte" EXACT [] +synonym: "eosinophilic leucocyte" EXACT [] +synonym: "eosinophilic leukocyte" EXACT [] +synonym: "polymorphonuclear leucocyte" BROAD [] +synonym: "polymorphonuclear leukocyte" BROAD [] +xref: BTO:0000399 +xref: CALOHA:TS-0279 +xref: FMA:62861 +is_a: CL:0000094 {is_inferred="true"} ! granulocyte +intersection_of: CL:0000094 ! granulocyte +intersection_of: RO:0002104 PR:000001254 +intersection_of: RO:0002104 PR:000001255 +intersection_of: RO:0002104 PR:000001307 +intersection_of: RO:0002104 PR:000001343 +intersection_of: RO:0002104 PR:000005178 + [Term] id: CL:0000775 name: neutrophil diff --git a/src/ontology/imports/cl_import.owl b/src/ontology/imports/cl_import.owl index 4ee7ebf1c0..b7a7c8c453 100644 --- a/src/ontology/imports/cl_import.owl +++ b/src/ontology/imports/cl_import.owl @@ -7631,6 +7631,73 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. + polymorphonuclear leucocyte + polymorphonuclear leukocyte + BTO:0000399 + CALOHA:TS-0279 + FMA:62861 + eosinocyte + eosinophilic granulocyte + eosinophilic leucocyte + eosinophilic leukocyte + cell + Eosinophils are also CD14-negative, CD32-positive, CD44-positive, CD48-positive, CD69-positive, CD192-negative, MBP1-positive, MBP2-positive, TLR2-negative, TLR4-negative, and lineage-negative (B220, CD2, CD14, CD19, CD56, CD71, CD117, CD123, CD235a (glycophorin A), and TER119). The cytokines IL-3, IL-5, and GM-CSF are involved in their development and differentiation. Usually considered CD16-negative, CD16 is observed on eosinophilic metamyelocyte. + eosinophil + + + + + + true + + + + + Any of the immature or mature forms of a granular leukocyte with a nucleus that usually has two lobes connected by one or more slender threads of chromatin, and cytoplasm containing coarse, round granules that are uniform in size and which can be stained by the dye eosin. Eosinophils are CD9-positive, CD191-positive, and CD193-positive. + GOC:add + GOC:amm + GOC:dsd + GOC:tfm + ISBN:0721601464 + PMCID:PMC2626675 + PMID:10914487 + PMID:1662676 + + + + @@ -20928,6 +20995,12 @@ + + + + + + diff --git a/src/ontology/imports/cl_terms.txt b/src/ontology/imports/cl_terms.txt index f004818060..a99dab4837 100644 --- a/src/ontology/imports/cl_terms.txt +++ b/src/ontology/imports/cl_terms.txt @@ -1,79 +1,465 @@ ?cls +http://purl.obolibrary.org/obo/CL_0000000 +http://purl.obolibrary.org/obo/CL_0000003 +http://purl.obolibrary.org/obo/CL_0000005 +http://purl.obolibrary.org/obo/CL_0000006 +http://purl.obolibrary.org/obo/CL_0000008 +http://purl.obolibrary.org/obo/CL_0000011 +http://purl.obolibrary.org/obo/CL_0000014 +http://purl.obolibrary.org/obo/CL_0000015 +http://purl.obolibrary.org/obo/CL_0000017 +http://purl.obolibrary.org/obo/CL_0000018 http://purl.obolibrary.org/obo/CL_0000019 +http://purl.obolibrary.org/obo/CL_0000020 +http://purl.obolibrary.org/obo/CL_0000027 +http://purl.obolibrary.org/obo/CL_0000029 +http://purl.obolibrary.org/obo/CL_0000030 http://purl.obolibrary.org/obo/CL_0000031 +http://purl.obolibrary.org/obo/CL_0000034 +http://purl.obolibrary.org/obo/CL_0000035 +http://purl.obolibrary.org/obo/CL_0000036 +http://purl.obolibrary.org/obo/CL_0000037 +http://purl.obolibrary.org/obo/CL_0000038 +http://purl.obolibrary.org/obo/CL_0000039 +http://purl.obolibrary.org/obo/CL_0000040 +http://purl.obolibrary.org/obo/CL_0000047 +http://purl.obolibrary.org/obo/CL_0000048 http://purl.obolibrary.org/obo/CL_0000049 +http://purl.obolibrary.org/obo/CL_0000050 +http://purl.obolibrary.org/obo/CL_0000051 +http://purl.obolibrary.org/obo/CL_0000055 +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_0000064 http://purl.obolibrary.org/obo/CL_0000066 +http://purl.obolibrary.org/obo/CL_0000067 +http://purl.obolibrary.org/obo/CL_0000068 +http://purl.obolibrary.org/obo/CL_0000069 http://purl.obolibrary.org/obo/CL_0000071 +http://purl.obolibrary.org/obo/CL_0000075 http://purl.obolibrary.org/obo/CL_0000076 +http://purl.obolibrary.org/obo/CL_0000077 +http://purl.obolibrary.org/obo/CL_0000079 +http://purl.obolibrary.org/obo/CL_0000081 +http://purl.obolibrary.org/obo/CL_0000083 http://purl.obolibrary.org/obo/CL_0000084 +http://purl.obolibrary.org/obo/CL_0000094 +http://purl.obolibrary.org/obo/CL_0000095 http://purl.obolibrary.org/obo/CL_0000097 +http://purl.obolibrary.org/obo/CL_0000098 http://purl.obolibrary.org/obo/CL_0000100 +http://purl.obolibrary.org/obo/CL_0000101 +http://purl.obolibrary.org/obo/CL_0000114 http://purl.obolibrary.org/obo/CL_0000115 +http://purl.obolibrary.org/obo/CL_0000123 http://purl.obolibrary.org/obo/CL_0000125 +http://purl.obolibrary.org/obo/CL_0000126 http://purl.obolibrary.org/obo/CL_0000127 +http://purl.obolibrary.org/obo/CL_0000133 +http://purl.obolibrary.org/obo/CL_0000134 http://purl.obolibrary.org/obo/CL_0000136 http://purl.obolibrary.org/obo/CL_0000138 +http://purl.obolibrary.org/obo/CL_0000146 +http://purl.obolibrary.org/obo/CL_0000147 http://purl.obolibrary.org/obo/CL_0000148 +http://purl.obolibrary.org/obo/CL_0000150 +http://purl.obolibrary.org/obo/CL_0000151 +http://purl.obolibrary.org/obo/CL_0000153 +http://purl.obolibrary.org/obo/CL_0000154 +http://purl.obolibrary.org/obo/CL_0000157 +http://purl.obolibrary.org/obo/CL_0000159 http://purl.obolibrary.org/obo/CL_0000160 +http://purl.obolibrary.org/obo/CL_0000163 +http://purl.obolibrary.org/obo/CL_0000164 +http://purl.obolibrary.org/obo/CL_0000165 http://purl.obolibrary.org/obo/CL_0000166 +http://purl.obolibrary.org/obo/CL_0000167 http://purl.obolibrary.org/obo/CL_0000168 +http://purl.obolibrary.org/obo/CL_0000169 +http://purl.obolibrary.org/obo/CL_0000172 http://purl.obolibrary.org/obo/CL_0000173 +http://purl.obolibrary.org/obo/CL_0000174 +http://purl.obolibrary.org/obo/CL_0000181 http://purl.obolibrary.org/obo/CL_0000182 +http://purl.obolibrary.org/obo/CL_0000183 http://purl.obolibrary.org/obo/CL_0000185 +http://purl.obolibrary.org/obo/CL_0000186 http://purl.obolibrary.org/obo/CL_0000187 http://purl.obolibrary.org/obo/CL_0000192 +http://purl.obolibrary.org/obo/CL_0000197 http://purl.obolibrary.org/obo/CL_0000210 +http://purl.obolibrary.org/obo/CL_0000211 +http://purl.obolibrary.org/obo/CL_0000213 +http://purl.obolibrary.org/obo/CL_0000215 http://purl.obolibrary.org/obo/CL_0000216 +http://purl.obolibrary.org/obo/CL_0000219 +http://purl.obolibrary.org/obo/CL_0000221 http://purl.obolibrary.org/obo/CL_0000222 +http://purl.obolibrary.org/obo/CL_0000223 +http://purl.obolibrary.org/obo/CL_0000225 +http://purl.obolibrary.org/obo/CL_0000226 http://purl.obolibrary.org/obo/CL_0000232 http://purl.obolibrary.org/obo/CL_0000233 http://purl.obolibrary.org/obo/CL_0000234 http://purl.obolibrary.org/obo/CL_0000235 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event involving the interaction of an exposure receptor to visible light radiation. + visible light radiation exposure + visible light radiation exposure event + exposure to visible light radiation + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to environmental material. Exposure may be through a variety of means, including through the air or through ingestion. + environmental material exposure + environmental material exposure event + exposure to portion of environmental material + exposure to environmental material + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to organic. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + organic molecular entity: Any molecular entity that contains carbon. + MRE:0000128 + organic exposure + organic exposure event + exposure to organic compounds + exposure to organic entity + exposure to organic molecular entities + exposure to organic molecular entity + + exposure to organic + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to organic cyclic compound. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + organic cyclic compound: Any organic molecule that consists of atoms connected in the form of a ring. + organic cyclic compound exposure + organic cyclic compound exposure event + exposure to organic cyclic compounds + exposure to organic cyclic compound + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to corticosteroid. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + corticosteroid: A natural or synthetic analogue of the hormones secreted by the adrenal gland. + corticosteroid exposure + corticosteroid exposure event + exposure to corticoides + exposure to corticosteroides + exposure to corticosteroids + exposure to corticosteroid + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to lipid. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + lipid: 'Lipids' is a loosely defined term for substances of biological origin that are soluble in nonpolar solvents. They consist of saponifiable lipids, such as glycerides (fats and oils) and phospholipids, as well as nonsaponifiable lipids, principally steroids. + lipid exposure + lipid exposure event + exposure to Lipid + exposure to lipids + exposure to lipid + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to carbon monoxide. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + carbon monoxide: A one-carbon compound in which the carbon is joined only to a single oxygen. It is a colourless, odourless, tasteless, toxic gas. + MRE:0000099 + http://www.wikidata.org/entity/Q125367 + carbon monoxide exposure + carbon monoxide exposure event + exposure to Carbon monoxide + exposure to carbon monooxide + exposure to carbon(II) oxide + + exposure to carbon monoxide + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to chemical entity. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + chemical entity: A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances. + http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C36290 + chemical entity exposure + chemical entity exposure event + exposure to chemical + + exposure to chemical entity + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to steroid hormone. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + steroid hormone: Any steroid that acts as hormone. + steroid hormone exposure + steroid hormone exposure event + exposure to Steroidhormon + exposure to Steroidhormone + exposure to hormona esteroide + exposure to hormonas esteroideas + exposure to hormone steroide + exposure to hormones steroides + exposure to steroid hormones + exposure to steroid hormone + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to glucocorticoid. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + glucocorticoid: 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 exposure + glucocorticoid exposure event + exposure to glucocorticoids + exposure to glucocorticoid + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to oxygen molecular entity. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + oxygen molecular entity exposure + oxygen molecular entity exposure event + exposure to oxygen molecular entities + exposure to oxygen molecular entity + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to formaldehyde. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + formaldehyde: The simplest aldehyde. + formaldehyde exposure + formaldehyde exposure event + exposure to Formaldehyd + exposure to Formaldehyde + exposure to Formalin + exposure to Methanal + exposure to Methylene oxide + exposure to Oxomethane + exposure to Oxomethylene + exposure to formaldehyde + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to transition element. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + transition element molecular entity: A molecular entity containing one or more atoms of a transition element. + transition element exposure + transition element exposure event + exposure to transition element molecular entities + exposure to transition element molecular entity + exposure to transition metal molecular entity + exposure to transition element + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a biological role. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + biological role exposure + biological role exposure event + exposure to biological function + exposure to biological role + exposure to chemical with biological effect + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a application. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + application exposure + application exposure event + exposure to application + exposure to chemical with application + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a chemical role. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + chemical role exposure + chemical role exposure event + exposure to chemical role + exposure to chemical with chemical role + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a alkylating agent. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + alkylating agent exposure + alkylating agent exposure event + exposure to alkylating agent + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a drug. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41362 + drug exposure + drug exposure event + exposure to drugs + exposure to medicine + + exposure to drug + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a herbicide. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + herbicide exposure + herbicide exposure event + exposure to Herbizid + exposure to Unkrautbekaempfungsmittel + exposure to Unkrautvertilgungsmittel + exposure to Wildkrautbekaempfungsmittel + exposure to herbicides + exposure to herbicide + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a hormone. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + hormone exposure + hormone exposure event + exposure to endocrine + exposure to hormones + exposure to hormone + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a mitochondrial respiratory-chain inhibitor. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + mitochondrial respiratory-chain inhibitor exposure + mitochondrial respiratory-chain inhibitor exposure event + exposure to mitochondrial electron transport chain inhibitors + exposure to mitochondrial electron-transport chain inhibitor + exposure to mitochondrial respiratory chain inhibitors + exposure to mitochondrial respiratory-chain inhibitor + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a mutagen. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + mutagen exposure + mutagen exposure event + exposure to mutagene + exposure to mutagenes + exposure to mutagenic agent + exposure to mutageno + exposure to mutagenos + exposure to mutagens + exposure to mutagen + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a mycotoxin. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + mycotoxin exposure + mycotoxin exposure event + exposure to fungal toxins + exposure to mycotoxins + exposure to mycotoxin + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a neurotransmitter. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + neurotransmitter exposure + neurotransmitter exposure event + exposure to neurotransmitters + exposure to neurotransmitter + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a pesticide. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + pesticide exposure + pesticide exposure event + exposure to Pestizid + exposure to Pestizide + exposure to pesticides + exposure to pesticide + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a toxin. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + toxin exposure + toxin exposure event + exposure to toxins + exposure to toxin + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a molecular messenger. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + molecular messenger exposure + molecular messenger exposure event + exposure to chemical messenger + exposure to molecular messenger + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a antimicrobial agent. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + antimicrobial agent exposure + antimicrobial agent exposure event + exposure to Antibiotika + exposure to Antibiotikum + exposure to antibiotic + exposure to antibiotics + exposure to antibiotique + exposure to antimicrobial + exposure to antimicrobial agents + exposure to antimicrobials + exposure to microbicide + exposure to microbicides + exposure to antimicrobial agent + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a inhibitor. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + inhibitor exposure + inhibitor exposure event + exposure to inhibidor + exposure to inhibiteur + exposure to inhibitors + exposure to inhibitor + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a vasodilator agent. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + vasodilator agent exposure + vasodilator agent exposure event + exposure to vasodilator + exposure to vasodilator agents + exposure to vasodilator agent + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a EC 1.9.3.1 (cytochrome c oxidase) inhibitor. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + EC 1.9.3.1 (cytochrome c oxidase) inhibitor exposure + EC 1.9.3.1 (cytochrome c oxidase) inhibitor exposure event + exposure to CcO inhibitor + exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitors + exposure to EC 1.9.3.1 inhibitor + exposure to EC 1.9.3.1 inhibitors + exposure to NADH cytochrome c oxidase inhibitor + exposure to NADH cytochrome c oxidase inhibitors + exposure to Warburg's respiratory enzyme inhibitor + exposure to Warburg's respiratory enzyme inhibitors + exposure to complex IV (mitochondrial electron transport) inhibitor + exposure to complex IV (mitochondrial electron transport) inhibitors + exposure to cytochrome a3 inhibitor + exposure to cytochrome a3 inhibitors + exposure to cytochrome aa3 inhibitor + exposure to cytochrome aa3 inhibitors + exposure to cytochrome c oxidase (EC 1.9.3.1) inhibitor + exposure to cytochrome c oxidase (EC 1.9.3.1) inhibitors + exposure to cytochrome c oxidase inhibitor + exposure to cytochrome c oxidase inhibitors + exposure to cytochrome oxidase inhibitor + exposure to cytochrome oxidase inhibitors + exposure to cytochrome-c oxidase inhibitor + exposure to cytochrome-c oxidase inhibitors + exposure to ferrocytochrome c oxidase inhibitor + exposure to ferrocytochrome c oxidase inhibitors + exposure to ferrocytochrome-c:oxygen oxidoreductase inhibitor + exposure to ferrocytochrome-c:oxygen oxidoreductase inhibitors + exposure to indophenol oxidase inhibitor + exposure to indophenol oxidase inhibitors + exposure to indophenolase inhibitor + exposure to indophenolase inhibitors + exposure to mitochondrial complex IV inhibitor + exposure to mitochondrial complex IV inhibitors + exposure to mitochondrial cytochrome-c oxidase inhibitors + exposure to EC 1.9.3.1 (cytochrome c oxidase) inhibitor + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a Bronsted acid. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + Bronsted acid exposure + Bronsted acid exposure event + exposure to Bronsted-Saeure + exposure to acide de Bronsted + exposure to donneur d'hydron + exposure to hydron donor + exposure to Bronsted acid + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a disinfectant. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + disinfectant exposure + disinfectant exposure event + exposure to Desinfektionsmittel + exposure to desinfectant + exposure to disinfectants + exposure to disinfecting agent + exposure to disinfectant + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a agonist. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + agonist exposure + agonist exposure event + exposure to agonista + exposure to agoniste + exposure to agonists + exposure to agonist + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a P450 inhibitor. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + P450 inhibitor exposure + P450 inhibitor exposure event + exposure to CYP2D6 inhbitor + exposure to CYP2D6 inhbitors + exposure to P450 inhibitors + exposure to cytochrome P450 inhibitor + exposure to cytochrome P450 inhibitors + exposure to P450 inhibitor + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a probe. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + probe exposure + probe exposure event + exposure to probe + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a genotoxin. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + genotoxin exposure + genotoxin exposure event + exposure to genotoxic agent + exposure to genotoxic agents + exposure to genotoxins + exposure to genotoxin + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a carcinogenic agent. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + carcinogenic agent exposure + carcinogenic agent exposure event + exposure to agente carcinogeno + exposure to cancerigene + exposure to cancerogene + exposure to carcinogen + exposure to carcinogene + exposure to carcinogenic agents + exposure to carcinogeno + exposure to carcinogens + exposure to carcinogenic agent + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a allergen. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + allergen exposure + allergen exposure event + exposure to alergeno + exposure to allergene + exposure to allergenic agent + exposure to allergen + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a neurotoxin. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + neurotoxin exposure + neurotoxin exposure event + exposure to agente neurotoxico + exposure to nerve poison + exposure to nerve poisons + exposure to neurotoxic agent + exposure to neurotoxic agents + exposure to neurotoxicant + exposure to neurotoxins + exposure to neurotoxin + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a ligand. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + ligand exposure + ligand exposure event + exposure to ligands + exposure to ligand + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a biomarker. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + biomarker exposure + biomarker exposure event + exposure to biological marker + exposure to biomarker + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a signalling molecule. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + signalling molecule exposure + signalling molecule exposure event + exposure to signal molecule + exposure to signal molecules + exposure to signaling molecule + exposure to signaling molecules + exposure to signalling molecules + exposure to signalling molecule + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a EC 3.5.1.4 (amidase) inhibitor. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + EC 3.5.1.4 (amidase) inhibitor exposure + EC 3.5.1.4 (amidase) inhibitor exposure event + exposure to EC 3.5.1.4 (amidase) inhibitors + exposure to EC 3.5.1.4 inhibitor + exposure to EC 3.5.1.4 inhibitors + exposure to N-acetylaminohydrolase inhibitor + exposure to N-acetylaminohydrolase inhibitors + exposure to acylamidase inhibitor + exposure to acylamidase inhibitors + exposure to acylamide amidohydrolase inhibitor + exposure to acylamide amidohydrolase inhibitors + exposure to amidase (EC 3.5.1.4) inhibitor + exposure to amidase (EC 3.5.1.4) inhibitors + exposure to amidase inhibitor + exposure to amidase inhibitors + exposure to amidohydrolase inhibitor + exposure to amidohydrolase inhibitors + exposure to deaminase inhibitor + exposure to deaminase inhibitors + exposure to fatty acylamidase inhibitor + exposure to fatty acylamidase inhibitors + exposure to EC 3.5.1.4 (amidase) inhibitor + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to a environmental contaminant. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + environmental contaminant exposure + environmental contaminant exposure event + exposure to environmental contaminants + exposure to environmental contaminant + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to the condition of temperature in the surrounding environmental material. + environmental material temperature exposure + exposure to temperature of environmental material in surroundings + exposure to temperature of portion of environmental material in surroundings + exposure to temperature of surroundings + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to the condition of temperature in the surrounding air. + air temperature exposure + exposure to temperature of air in surroundings + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to the condition of decreased temperature in the surrounding air. + air decreased temperature exposure + exposure to decreased temperature of air in surroundings + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to the condition of decreased temperature in the surrounding environmental material. + environmental material decreased temperature exposure + exposure to decreased temperature of portion of environmental material in surroundings + exposure to decreased temperature of environmental material in surroundings + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to aflatoxin. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + aflatoxin: Any of a group of related and highly toxic secondary metabolites (mycotoxins) whose main structural feature is a fused coumarin-bis(dihydrofuran) ring system and which are produced by strains of the moulds Aspergillus flavus or A. parasiticus, together with further metabolites of these mycotoxins + aflatoxin exposure + aflatoxin exposure event + exposure to aflatoxins + exposure to aflatoxin + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to organochlorine compound. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + organochlorine compound: An organochlorine compound is a compound containing at least one carbon-chlorine bond. + MRE:0000084 + organochlorine compound exposure + organochlorine compound exposure event + exposure to chloroorganic compounds + exposure to chlororganische Verbindungen + exposure to organochloride compound + exposure to organochloride compounds + exposure to organochlorine compounds + + exposure to organochlorine compound + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to cadmium. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + cadmium exposure + cadmium exposure event + exposure to cadmium compounds + exposure to cadmium molecular entities + exposure to cadmium molecular entity + exposure to cadmium + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to mercury. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + mercury exposure + mercury exposure event + exposure to mercury compounds + exposure to mercury molecular entities + exposure to mercury molecular entity + exposure to mercury + + + + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to chloroacetic acid. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + chloroacetic acid: A chlorocarboxylic acid that is acetic acid carrying a 2-chloro substituent. + chloroacetic acid exposure + chloroacetic acid exposure event + exposure to 2-chloro-acetic acid + exposure to 2-chloro-ethanoic acid + exposure to 2-chloroacetic acid + exposure to Acide chloracetique + exposure to Acide chloroacetique + exposure to Acide monochloracetique + exposure to Chloroacetic acid + exposure to Chloroethanoic acid + exposure to Monochloressigsaeure + exposure to alpha-chloro-acetic acid + exposure to chloracetic acid + exposure to monochloroacetic acid + exposure to monochloroethanoic acid + exposure to chloroacetic acid + + + + + + + + + + + + + + + + + + + + + A exposure event involving the interaction of an exposure receptor to steroid. Exposure may be through a variety of means, including through the air or surrounding medium, or through ingestion. + steroid: Any of naturally occurring compounds and synthetic analogues, based on the cyclopenta[a]phenanthrene carbon skeleton, partially or completely hydrogenated; there are usually methyl groups at C-10 and C-13, and often an alkyl group at C-17. By extension, one or more bond scissions, ring expansions and/or ring contractions of the skeleton may have occurred. Natural steroids are derived biogenetically from squalene, so may be considered as triterpenoids. + steroid exposure + steroid exposure event + exposure to Steroid + exposure to a steroid + exposure to steroids + exposure to steroid + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An interaction between an exposure stressor and an exposure receptor. + RO:0002310 + exposure event or process + + + + + An interaction between an exposure stressor and an exposure receptor. + CTD:curators + + + + + + + diff --git a/src/ontology/imports/envo_import.obo b/src/ontology/imports/envo_import.obo index 6ba7ede9be..dfa45311b6 100644 --- a/src/ontology/imports/envo_import.obo +++ b/src/ontology/imports/envo_import.obo @@ -1,6 +1,5 @@ format-version: 1.2 ontology: mondo/imports/envo_import -owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\n\n############################\n# Classes\n############################\n\n# Class: ()\n\n\n# Class: ()\n\n\n# Class: ()\n\n\n# Class: ()\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( )))\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectComplementOf(ObjectSomeValuesFrom( ))))\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( ObjectIntersectionOf( ObjectSomeValuesFrom( )))))\n\n# Class: ()\n\nEquivalentClasses( ObjectUnionOf(ObjectIntersectionOf( ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( ) ObjectSomeValuesFrom( )))\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectSomeValuesFrom( ObjectUnionOf( ))))\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n# Class: ()\n\nSubClassOf( ObjectSomeValuesFrom( ObjectUnionOf( )))\n\n\nSubClassOf(ObjectSomeValuesFrom( ) ObjectUnionOf(ObjectSomeValuesFrom( ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( ObjectSomeValuesFrom( ObjectSomeValuesFrom( )))))\nDisjointClasses( )\n) [Term] id: BFO:0000001 @@ -84,6 +83,58 @@ id: CARO:0000006 name: material anatomical entity is_a: BFO:0000040 ! material entity +[Term] +id: CHEBI:15022 +name: electron donor +is_a: CHEBI:17891 ! donor + +[Term] +id: CHEBI:15377 +name: water +is_a: CHEBI:33693 ! oxygen hydride +is_a: CHEBI:37176 ! mononuclear parent hydride +is_a: CHEBI:52625 ! inorganic hydroxy compound + +[Term] +id: CHEBI:15379 +name: dioxygen +is_a: CHEBI:25362 ! elemental molecule +is_a: CHEBI:33263 ! diatomic oxygen + +[Term] +id: CHEBI:16526 +name: carbon dioxide +is_a: CHEBI:23014 ! carbon oxide +is_a: CHEBI:64708 ! one-carbon compound + +[Term] +id: CHEBI:17891 +name: donor +is_a: CHEBI:51086 ! chemical role + +[Term] +id: CHEBI:17997 +name: dinitrogen +is_a: CHEBI:25362 ! elemental molecule +is_a: CHEBI:33266 ! diatomic nitrogen + +[Term] +id: CHEBI:23014 +name: carbon oxide +is_a: CHEBI:25701 ! organic oxide +is_a: CHEBI:36963 ! organooxygen compound + +[Term] +id: CHEBI:23114 +name: chloride salt +is_a: CHEBI:23117 ! chlorine molecular entity +is_a: CHEBI:33958 ! halide salt + +[Term] +id: CHEBI:23117 +name: chlorine molecular entity +is_a: CHEBI:24471 ! halogen molecular entity + [Term] id: CHEBI:23367 name: molecular entity @@ -99,11 +150,155 @@ id: CHEBI:24432 name: biological role is_a: CHEBI:50906 ! role +[Term] +id: CHEBI:24471 +name: halogen molecular entity +is_a: CHEBI:33675 ! p-block molecular entity + +[Term] +id: CHEBI:24651 +name: hydroxides +is_a: CHEBI:25806 ! oxygen molecular entity +is_a: CHEBI:33608 ! hydrogen molecular entity +is_a: CHEBI:37577 ! heteroatomic molecular entity + +[Term] +id: CHEBI:24835 +name: inorganic molecular entity +is_a: CHEBI:23367 ! molecular entity + +[Term] +id: CHEBI:24839 +name: inorganic salt +is_a: CHEBI:24835 ! inorganic molecular entity +is_a: CHEBI:24866 ! salt + +[Term] +id: CHEBI:24866 +name: salt +is_a: CHEBI:37577 ! heteroatomic molecular entity + +[Term] +id: CHEBI:25362 +name: elemental molecule +is_a: CHEBI:25367 ! molecule +is_a: CHEBI:33259 ! elemental molecular entity + +[Term] +id: CHEBI:25367 +name: molecule +is_a: CHEBI:36357 ! polyatomic entity + +[Term] +id: CHEBI:25701 +name: organic oxide +is_a: CHEBI:25741 ! oxide +is_a: CHEBI:72695 ! organic molecule + +[Term] +id: CHEBI:25741 +name: oxide +is_a: CHEBI:25806 ! oxygen molecular entity +is_a: CHEBI:37577 ! heteroatomic molecular entity + +[Term] +id: CHEBI:25806 +name: oxygen molecular entity +is_a: CHEBI:33304 ! chalcogen molecular entity + +[Term] +id: CHEBI:26710 +name: sodium chloride +is_a: CHEBI:36093 ! inorganic chloride +is_a: CHEBI:38702 ! inorganic sodium salt + +[Term] +id: CHEBI:26712 +name: sodium molecular entity +is_a: CHEBI:33296 ! alkali metal molecular entity + +[Term] +id: CHEBI:26714 +name: sodium salt +is_a: CHEBI:26712 ! sodium molecular entity +is_a: CHEBI:35479 ! alkali metal salt + +[Term] +id: CHEBI:33242 +name: inorganic hydride +is_a: CHEBI:24835 ! inorganic molecular entity +is_a: CHEBI:33692 ! hydrides + +[Term] +id: CHEBI:33250 +name: atom +is_a: CHEBI:24431 ! chemical entity + +[Term] +id: CHEBI:33259 +name: elemental molecular entity +is_a: CHEBI:23367 ! molecular entity + +[Term] +id: CHEBI:33262 +name: elemental oxygen +is_a: CHEBI:24835 ! inorganic molecular entity +is_a: CHEBI:25806 ! oxygen molecular entity +is_a: CHEBI:33259 ! elemental molecular entity + +[Term] +id: CHEBI:33263 +name: diatomic oxygen +is_a: CHEBI:33262 ! elemental oxygen + +[Term] +id: CHEBI:33266 +name: diatomic nitrogen +is_a: CHEBI:33267 ! elemental nitrogen + +[Term] +id: CHEBI:33267 +name: elemental nitrogen +is_a: CHEBI:33465 ! elemental pnictogen +is_a: CHEBI:51143 ! nitrogen molecular entity + [Term] id: CHEBI:33284 name: nutrient is_a: CHEBI:78295 ! food component +[Term] +id: CHEBI:33285 +name: heteroorganic entity +is_a: CHEBI:50860 ! organic molecular entity + +[Term] +id: CHEBI:33296 +name: alkali metal molecular entity +is_a: CHEBI:33674 ! s-block molecular entity + +[Term] +id: CHEBI:33302 +name: pnictogen molecular entity +is_a: CHEBI:33675 ! p-block molecular entity + +[Term] +id: CHEBI:33304 +name: chalcogen molecular entity +is_a: CHEBI:33675 ! p-block molecular entity + +[Term] +id: CHEBI:33465 +name: elemental pnictogen +is_a: CHEBI:24835 ! inorganic molecular entity +is_a: CHEBI:33259 ! elemental molecular entity +is_a: CHEBI:33302 ! pnictogen molecular entity + +[Term] +id: CHEBI:33521 +name: metal atom +is_a: CHEBI:33250 ! atom + [Term] id: CHEBI:33579 name: main group molecular entity @@ -114,11 +309,43 @@ id: CHEBI:33582 name: carbon group molecular entity is_a: CHEBI:33675 ! p-block molecular entity +[Term] +id: CHEBI:33583 +name: noble gas molecular entity +is_a: CHEBI:33579 ! main group molecular entity + +[Term] +id: CHEBI:33608 +name: hydrogen molecular entity +is_a: CHEBI:33674 ! s-block molecular entity + +[Term] +id: CHEBI:33674 +name: s-block molecular entity +is_a: CHEBI:33579 ! main group molecular entity + [Term] id: CHEBI:33675 name: p-block molecular entity is_a: CHEBI:33579 ! main group molecular entity +[Term] +id: CHEBI:33679 +name: helium molecular entity +is_a: CHEBI:33583 ! noble gas molecular entity +is_a: CHEBI:33674 ! s-block molecular entity + +[Term] +id: CHEBI:33692 +name: hydrides +is_a: CHEBI:33608 ! hydrogen molecular entity +is_a: CHEBI:37577 ! heteroatomic molecular entity + +[Term] +id: CHEBI:33693 +name: oxygen hydride +is_a: CHEBI:36902 ! chalcogen hydride + [Term] id: CHEBI:33694 name: biomacromolecule @@ -130,6 +357,24 @@ id: CHEBI:33839 name: macromolecule is_a: CHEBI:36357 ! polyatomic entity +[Term] +id: CHEBI:33958 +name: halide salt +is_a: CHEBI:24866 ! salt +is_a: CHEBI:37578 ! halide + +[Term] +id: CHEBI:35479 +name: alkali metal salt +is_a: CHEBI:24866 ! salt +is_a: CHEBI:33296 ! alkali metal molecular entity + +[Term] +id: CHEBI:36093 +name: inorganic chloride +is_a: CHEBI:23114 ! chloride salt +is_a: CHEBI:24839 ! inorganic salt + [Term] id: CHEBI:36342 name: subatomic particle @@ -140,6 +385,51 @@ id: CHEBI:36357 name: polyatomic entity is_a: CHEBI:23367 ! molecular entity +[Term] +id: CHEBI:36902 +name: chalcogen hydride +is_a: CHEBI:33242 ! inorganic hydride +is_a: CHEBI:33304 ! chalcogen molecular entity + +[Term] +id: CHEBI:36908 +name: argon molecular entity +is_a: CHEBI:33583 ! noble gas molecular entity + +[Term] +id: CHEBI:36962 +name: organochalcogen compound +is_a: CHEBI:33285 ! heteroorganic entity +is_a: CHEBI:33304 ! chalcogen molecular entity + +[Term] +id: CHEBI:36963 +name: organooxygen compound +is_a: CHEBI:25806 ! oxygen molecular entity +is_a: CHEBI:36962 ! organochalcogen compound + +[Term] +id: CHEBI:37176 +name: mononuclear parent hydride +is_a: CHEBI:33692 ! hydrides + +[Term] +id: CHEBI:37577 +name: heteroatomic molecular entity +is_a: CHEBI:36357 ! polyatomic entity + +[Term] +id: CHEBI:37578 +name: halide +is_a: CHEBI:24471 ! halogen molecular entity +is_a: CHEBI:37577 ! heteroatomic molecular entity + +[Term] +id: CHEBI:38702 +name: inorganic sodium salt +is_a: CHEBI:24839 ! inorganic salt +is_a: CHEBI:26714 ! sodium salt + [Term] id: CHEBI:46662 name: mineral @@ -154,16 +444,48 @@ is_a: CHEBI:33582 ! carbon group molecular entity id: CHEBI:50906 name: role +[Term] +id: CHEBI:51086 +name: chemical role +is_a: CHEBI:50906 ! role + +[Term] +id: CHEBI:51143 +name: nitrogen molecular entity +is_a: CHEBI:33302 ! pnictogen molecular entity + [Term] id: CHEBI:52211 name: physiological role is_a: CHEBI:24432 ! biological role +[Term] +id: CHEBI:52625 +name: inorganic hydroxy compound +is_a: CHEBI:24651 ! hydroxides +is_a: CHEBI:24835 ! inorganic molecular entity + [Term] id: CHEBI:59999 name: chemical substance is_a: CHEBI:24431 ! chemical entity +[Term] +id: CHEBI:64708 +name: one-carbon compound +is_a: CHEBI:50860 ! organic molecular entity + +[Term] +id: CHEBI:72695 +name: organic molecule +is_a: CHEBI:25367 ! molecule +is_a: CHEBI:50860 ! organic molecular entity + +[Term] +id: CHEBI:76413 +name: greenhouse gas +is_a: CHEBI:51086 ! chemical role + [Term] id: CHEBI:78295 name: food component @@ -203,6 +525,26 @@ synonym: "building" EXACT [] is_a: ENVO:00000070 ! construction relationship: BFO:0000051 ENVO:01000420 ! has part building part +[Term] +id: ENVO:00000131 +name: glacial feature +def: "A hydrographic feature characterized by the dominance of snow or ice." [] +synonym: "glacer" NARROW [] +synonym: "glacial landform" RELATED [] +synonym: "glacier feature" RELATED [] +synonym: "Ice" RELATED [] +synonym: "LandIce" RELATED [] +is_a: ENVO:00002297 ! environmental feature + +[Term] +id: ENVO:00000134 +name: permafrost +def: "Soil at or below the freezing point of water (0C or 32F) for two or more years. Ice is not always present, as may be in the case of nonporous bedrock, but it frequently occurs and it may be in amounts exceeding the potential hydraulic saturation of the ground material." [] +synonym: "Permafrost" EXACT [] +is_a: ENVO:00001998 ! soil +is_a: ENVO:01001125 ! ice +relationship: RO:0000086 PATO:0001985 ! has quality frozen + [Term] id: ENVO:00001995 name: rock @@ -231,6 +573,26 @@ name: mesoscopic physical object def: "An environmental feature that is, or can be, contained and is predominantly composed of one or a few types of stuff." [] is_a: ENVO:00002297 ! environmental feature +[Term] +id: ENVO:00002005 +name: air +def: "The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth." [] +is_a: ENVO:01000797 ! gaseous environmental material +relationship: BFO:0000051 CHEBI:15379 ! has part dioxygen +relationship: BFO:0000051 CHEBI:16526 ! has part carbon dioxide +relationship: BFO:0000051 CHEBI:36908 ! has part argon molecular entity +relationship: BFO:0000051 ENVO:01000266 ! has part water vapour +relationship: RO:0000086 PATO:0001547 ! has quality quality of a gas +relationship: RO:0002473 CHEBI:17997 ! composed primarily of dinitrogen + +[Term] +id: ENVO:00002006 +name: water +def: "An environmental material primarily composed of dihydrogen oxide in its liquid form." [] +is_a: ENVO:01000815 ! liquid environmental material +relationship: RO:0000086 PATO:0001548 ! has quality quality of a liquid +relationship: RO:0002473 CHEBI:15377 ! composed primarily of water + [Term] id: ENVO:00002008 name: dust @@ -299,6 +661,15 @@ id: ENVO:00003075 name: anthropogenic abiotic mesoscopic feature is_a: ENVO:01000010 ! abiotic mesoscopic physical object +[Term] +id: ENVO:00003082 +name: enriched soil +def: "A portion of enriched soil is a portion of soil with elevated levels of some material entity." [] +is_a: ENVO:00001998 ! soil +intersection_of: ENVO:00001998 ! soil +intersection_of: has_increased_levels_of BFO:0000040 ! material entity +relationship: has_increased_levels_of BFO:0000040 ! material entity + [Term] id: ENVO:00010483 name: environmental material @@ -306,6 +677,13 @@ def: "A portion of environmental material is a fiat object which forms the mediu synonym: "portion of environmental material" EXACT [] is_a: BFO:0000040 ! material entity +[Term] +id: ENVO:00010505 +name: aerosol +def: "Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets." [] +is_a: ENVO:01000060 ! particulate matter +relationship: RO:0002219 ENVO:00002005 ! surrounded by air + [Term] id: ENVO:0010001 name: anthropogenic environmental material @@ -338,6 +716,12 @@ def: "A naturally occurring granular material composed of finely divided rock an is_a: ENVO:00010483 ! environmental material relationship: RO:0001000 ENVO:00001995 ! derives from rock +[Term] +id: ENVO:01000060 +name: particulate matter +def: "Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material." [] +is_a: ENVO:00010483 ! environmental material + [Term] id: ENVO:01000155 name: organic material @@ -363,6 +747,49 @@ intersection_of: RO:0002473 CHEBI:46662 ! composed primarily of mineral relationship: RO:0000086 PATO:0001546 ! has quality quality of a solid relationship: RO:0002473 CHEBI:46662 ! composed primarily of mineral +[Term] +id: ENVO:01000266 +name: water vapour +def: "Water vapour is a vapour which is the gas phase of water." [] +synonym: "aqueous vapor" EXACT [] +synonym: "aqueous vapour" EXACT [] +synonym: "water vapor" EXACT [] +is_a: ENVO:01000797 ! gaseous environmental material +relationship: RO:0000086 PATO:0001547 ! has quality quality of a gas +relationship: RO:0002473 CHEBI:15377 ! composed primarily of water + +[Term] +id: ENVO:01000267 +name: atmosphere +def: "An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body." [] +is_a: ENVO:01000281 ! layer + +[Term] +id: ENVO:01000268 +name: atmospheric water vapour +def: "Atmospheric water vapour is water vapour that is part of an atmosphere." [] +synonym: "atmospheric water vapor" EXACT [] +is_a: ENVO:01000266 ! water vapour +intersection_of: ENVO:01000266 ! water vapour +intersection_of: BFO:0000050 ENVO:01000267 ! part of atmosphere +relationship: BFO:0000050 ENVO:01000267 ! part of atmosphere +relationship: RO:0000087 CHEBI:76413 ! has role greenhouse gas + +[Term] +id: ENVO:01000277 +name: water ice +def: "Ice is water frozen into a solid state. It can appear transparent or opaque bluish-white color, depending on the presence of impurities or air inclusions. The addition of other materials such as soil may further alter its appearance." [] +synonym: "ice" RELATED [] +is_a: ENVO:01001125 ! ice +relationship: RO:0002473 ENVO:00002006 ! composed primarily of water + +[Term] +id: ENVO:01000281 +name: layer +def: "A layer is a quantity of some material which has comparable thickness and usually covers some surface." [] +is_a: ENVO:00000000 ! geographic feature +relationship: RO:0000086 PATO:0002124 ! has quality laminar + [Term] id: ENVO:01000303 name: endolithic environment @@ -372,12 +799,61 @@ intersection_of: ENVO:01000254 ! environmental system intersection_of: RO:0002219 ENVO:00001995 ! surrounded by rock relationship: RO:0002219 ENVO:00001995 ! surrounded by rock +[Term] +id: ENVO:01000305 +name: high temperature environment +def: "A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy." [] +is_a: ENVO:01000997 ! environmental system determined by a quality +intersection_of: ENVO:01000997 ! environmental system determined by a quality +intersection_of: RO:0000086 PATO:0001305 ! has quality increased temperature +relationship: RO:0000086 PATO:0001305 ! has quality increased temperature + [Term] id: ENVO:01000313 name: anthropogenic environment def: "An anthropogenic environment is an environmental system which is the product of human activity." [] is_a: ENVO:01000254 ! environmental system +[Term] +id: ENVO:01000314 +name: high osmolarity environment +def: "A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes." [] +is_a: ENVO:01000997 ! environmental system determined by a quality +intersection_of: ENVO:01000997 ! environmental system determined by a quality +intersection_of: RO:0000086 PATO:0001657 ! has quality increased osmolarity +relationship: RO:0000086 PATO:0001657 ! has quality increased osmolarity + +[Term] +id: ENVO:01000317 +name: aquatic environment +def: "An environment whose dynamics are strongly influenced by water." [] +is_a: ENVO:01000997 ! environmental system determined by a quality +is_a: ENVO:01000998 ! environmental system determined by a material +intersection_of: ENVO:01000254 ! environmental system +intersection_of: RO:0002507 ENVO:00002006 ! determined by water +relationship: RO:0002507 ENVO:00002006 ! determined by water + +[Term] +id: ENVO:01000325 +name: aquatic layer +def: "A layer in a water mass, itself composed primarily of water." [] +is_a: ENVO:01000281 ! layer +intersection_of: ENVO:01000281 ! layer +intersection_of: RO:0002473 ENVO:00002006 ! composed primarily of water +relationship: RO:0002473 ENVO:00002006 ! composed primarily of water + +[Term] +id: ENVO:01000406 +name: snow +def: "Snow is an environmental material which is primarily composed of flakes of crystalline water ice." [] +synonym: "snow" RELATED [] +is_a: ENVO:00000131 ! glacial feature +is_a: ENVO:00010483 ! environmental material +is_a: ENVO:03000110 ! cryoform +relationship: BFO:0000051 ENVO:00002005 ! has part air +relationship: RO:0002353 ENVO:01000703 ! output of hydrological precipitation process +relationship: RO:0002473 ENVO:01000277 ! composed primarily of water ice + [Term] id: ENVO:01000420 name: building part @@ -385,6 +861,16 @@ def: "A building part is a construction which is part of a building." [] is_a: ENVO:00000070 ! construction relationship: BFO:0000050 ENVO:00000073 ! part of building +[Term] +id: ENVO:01000624 +name: hydrological condensation process +def: "Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase." [] +synonym: "condensation" BROAD [] +is_a: ENVO:01000724 ! condensation process +is_a: ENVO:02500031 ! hydrological process +relationship: RO:0002233 ENVO:01000268 ! has input atmospheric water vapour +relationship: RO:0002234 ENVO:00002006 ! has output water + [Term] id: ENVO:01000637 name: outer space @@ -392,12 +878,58 @@ def: "Outer space is a hard vacuum containing a low density of particles, predom synonym: "space" BROAD [] is_a: ENVO:00002297 ! environmental feature +[Term] +id: ENVO:01000639 +name: planetary structural layer +def: "A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition." [] +is_a: ENVO:01000281 ! layer +relationship: BFO:0000050 ENVO:01000800 ! part of planet + +[Term] +id: ENVO:01000648 +name: magma +def: "Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles." [] +is_a: ENVO:00010483 ! environmental material +relationship: RO:0000086 PATO:0001305 ! has quality increased temperature +relationship: RO:0001025 ENVO:01000639 ! located in planetary structural layer + [Term] id: ENVO:01000665 name: waste role def: "A role that is realized in some process wherein the bearer is discarded or not utilized further." [] is_a: BFO:0000023 ! role +[Term] +id: ENVO:01000703 +name: hydrological precipitation process +def: "Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity." [] +synonym: "precipitation" BROAD [] +is_a: ENVO:01000875 ! precipitation process + +[Term] +id: ENVO:01000724 +name: condensation process +def: "Condensation is a process during which a gas undergoes a phase transition into a liquid." [] +is_a: ENVO:03000043 ! material transformation process + +[Term] +id: ENVO:01000755 +name: aeroform +def: "An aeroform is a geographic feature which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes." [] +is_a: ENVO:00000000 ! geographic feature +is_a: ENVO:01001008 ! meteor +relationship: RO:0001025 ENVO:01000267 ! located in atmosphere + +[Term] +id: ENVO:01000797 +name: gaseous environmental material +def: "A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely." [] +synonym: "gas" NARROW [] +is_a: ENVO:00010483 ! environmental material +intersection_of: ENVO:00010483 ! environmental material +intersection_of: RO:0000086 PATO:0001547 ! has quality quality of a gas +relationship: RO:0000086 PATO:0001547 ! has quality quality of a gas + [Term] id: ENVO:01000799 name: astronomical body @@ -405,6 +937,12 @@ def: "An object which is naturally occuring, bound together by gravitational or synonym: "celestial body" RELATED [] is_a: ENVO:01000804 ! astronomical object +[Term] +id: ENVO:01000800 +name: planet +def: "A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals." [] +is_a: ENVO:01000799 ! astronomical body + [Term] id: ENVO:01000804 name: astronomical object @@ -430,6 +968,15 @@ intersection_of: ENVO:00010483 ! environmental material intersection_of: RO:0000086 PATO:0001546 ! has quality quality of a solid relationship: RO:0000086 PATO:0001546 ! has quality quality of a solid +[Term] +id: ENVO:01000815 +name: liquid environmental material +def: "An environmental material which is in a liquid state." [] +is_a: ENVO:01000648 ! magma +intersection_of: ENVO:00010483 ! environmental material +intersection_of: RO:0000086 PATO:0001548 ! has quality quality of a liquid +relationship: RO:0000086 PATO:0001548 ! has quality quality of a liquid + [Term] id: ENVO:01000817 name: biosphere @@ -438,6 +985,12 @@ is_a: ENVO:01000813 ! astronomical body part is_a: ENVO:01001110 ! ecosystem relationship: BFO:0000051 PCO:0000000 ! has part collection of organisms +[Term] +id: ENVO:01000875 +name: precipitation process +def: "A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force." [] +is_a: ENVO:03000010 ! material transport process + [Term] id: ENVO:01000951 name: natural environment @@ -456,6 +1009,15 @@ intersection_of: RO:0002234 ENVO:01000313 ! has output anthropogenic environment relationship: RO:0002233 ENVO:01000951 ! has input natural environment relationship: RO:0002234 ENVO:01000313 ! has output anthropogenic environment +[Term] +id: ENVO:01000958 +name: terrestrial planet +def: "A planet that is composed primarily of silicate rocks or metals." [] +synonym: "Earth-like planet" RELATED [] +synonym: "rocky planet" EXACT [] +synonym: "telluric planet" EXACT [] +is_a: ENVO:01000800 ! planet + [Term] id: ENVO:01000983 name: technosphere @@ -519,6 +1081,34 @@ intersection_of: ENVO:01000254 ! environmental system intersection_of: RO:0002507 NCBITaxon:33208 ! determined by Metazoa relationship: RO:0002507 NCBITaxon:33208 ! determined by Metazoa +[Term] +id: ENVO:01001008 +name: meteor +def: "A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body." [] +is_a: BFO:0000040 ! material entity +intersection_of: BFO:0000004 ! independent continuant +intersection_of: RO:0001025 ENVO:01000267 ! located in atmosphere +relationship: RO:0001025 ENVO:01000267 ! located in atmosphere + +[Term] +id: ENVO:01001010 +name: hydrometeor +def: "A meteor which is primarily composed of water." [] +is_a: ENVO:01001008 ! meteor +intersection_of: ENVO:01001008 ! meteor +intersection_of: RO:0002473 ENVO:00002006 ! composed primarily of water +relationship: RO:0002473 ENVO:00002006 ! composed primarily of water + +[Term] +id: ENVO:01001012 +name: lithometeor +def: "A meteor which is primarily composed of rock." [] +is_a: ENVO:01001008 ! meteor +intersection_of: ENVO:01001008 ! meteor +intersection_of: RO:0002473 ENVO:00001995 ! composed primarily of rock +relationship: RO:0001000 ENVO:01001068 ! derives from meteoroid +relationship: RO:0002473 ENVO:00001995 ! composed primarily of rock + [Term] id: ENVO:01001023 name: radiation @@ -533,6 +1123,14 @@ name: electromagnetic radiation def: "A radiation process during which waves (or their quanta, photons) of the electromagnetic field propagate (radiate) through space carrying electromagnetic energy." [] is_a: ENVO:01001023 ! radiation +[Term] +id: ENVO:01001040 +name: saline environment +def: "An environment which is determined by materials which bear significant concentrations of salts." [] +is_a: ENVO:01000314 ! high osmolarity environment +is_a: ENVO:01000998 ! environmental system determined by a material +relationship: RO:0000086 PATO:0001657 ! has quality increased osmolarity + [Term] id: ENVO:01001044 name: soil environment @@ -543,6 +1141,28 @@ intersection_of: ENVO:01000254 ! environmental system intersection_of: RO:0002507 ENVO:00001998 ! determined by soil relationship: RO:0002507 ENVO:00001998 ! determined by soil +[Term] +id: ENVO:01001052 +name: aerosol environment +def: "An environmental system which has its properties and dynamics determined by an aerosol." [] +is_a: ENVO:01000998 ! environmental system determined by a material +intersection_of: ENVO:01000254 ! environmental system +intersection_of: RO:0002507 ENVO:00010505 ! determined by aerosol +relationship: RO:0002507 ENVO:00010505 ! determined by aerosol + +[Term] +id: ENVO:01001053 +name: saline aerosol environment +def: "An environmental system which has its properties and dynamics determined by a saline aerosol." [] +is_a: ENVO:01001040 ! saline environment +is_a: ENVO:01001052 ! aerosol environment + +[Term] +id: ENVO:01001054 +name: non-saline aerosol environment +def: "An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes." [] +is_a: ENVO:01001052 ! aerosol environment + [Term] id: ENVO:01001055 name: environment associated with an animal part or small animal @@ -558,18 +1178,84 @@ name: environment associated with a plant part or small plant def: "An environmental system determined by part of a living or dead plant, or a whole small plant." [] is_a: ENVO:01000254 ! environmental system +[Term] +id: ENVO:01001068 +name: meteoroid +def: "An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids." [] +is_a: ENVO:01000799 ! astronomical body +relationship: RO:0000086 PATO:0000587 ! has quality decreased size + +[Term] +id: ENVO:01001069 +name: metallic material +def: "A material which is composed primarily of one or more pure metals and which shows their properties." [] +synonym: "metal" RELATED [] +is_a: ENVO:00010483 ! environmental material +relationship: RO:0000086 PATO:0000963 ! has quality opaque +relationship: RO:0000087 CHEBI:15022 ! has role electron donor +relationship: RO:0002473 CHEBI:33521 ! composed primarily of metal atom + +[Term] +id: ENVO:01001088 +name: liquid aerosol +def: "An aerosol which is primarily composed of liquid droplets." [] +is_a: ENVO:00010505 ! aerosol +is_a: ENVO:01000815 ! liquid environmental material +intersection_of: ENVO:00010505 ! aerosol +intersection_of: RO:0000086 PATO:0001548 ! has quality quality of a liquid +relationship: RO:0000086 PATO:0001548 ! has quality quality of a liquid +relationship: RO:0002219 ENVO:00002005 ! surrounded by air + +[Term] +id: ENVO:01001089 +name: solid aerosol +def: "An aerosol which is primarily composed of solid particles." [] +is_a: ENVO:00010505 ! aerosol +is_a: ENVO:01000814 ! solid environmental material +intersection_of: ENVO:00010505 ! aerosol +intersection_of: RO:0000086 PATO:0001546 ! has quality quality of a solid +relationship: RO:0000086 PATO:0001546 ! has quality quality of a solid +relationship: RO:0002219 ENVO:00002005 ! surrounded by air + [Term] id: ENVO:01001110 name: ecosystem def: "An environmental system which includes both living and non-living components." [] is_a: ENVO:01000254 ! environmental system +[Term] +id: ENVO:01001122 +name: gas planet +def: "A planet which is primarily composed of hydrogen and helium." [] +is_a: ENVO:01000800 ! planet +relationship: RO:0002473 ENVO:01001155 ! composed primarily of astrogeological gas + [Term] id: ENVO:01001125 name: ice def: "An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure." [] is_a: ENVO:00010483 ! environmental material +[Term] +id: ENVO:01001147 +name: helium planet +def: "A gas planet which has an atmosphere composed primarily of helium." [] +is_a: ENVO:01001122 ! gas planet + +[Term] +id: ENVO:01001154 +name: volatile astrogeological material +def: "A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet." [] +synonym: "volatile" RELATED [] +is_a: ENVO:00010483 ! environmental material + +[Term] +id: ENVO:01001155 +name: astrogeological gas +def: "An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium." [] +synonym: "gas" RELATED [] +is_a: ENVO:01001154 ! volatile astrogeological material + [Term] id: ENVO:02000091 name: coal @@ -598,6 +1284,15 @@ id: ENVO:02000101 name: fibrous dust is_a: ENVO:00002008 ! dust +[Term] +id: ENVO:02000103 +name: metallic dust +is_a: ENVO:00002008 ! dust +intersection_of: ENVO:00002008 ! dust +intersection_of: RO:0001000 ENVO:01001069 ! derives from metallic material +relationship: RO:0001000 ENVO:01001069 ! derives from metallic material +relationship: RO:0002473 ENVO:01001069 ! composed primarily of metallic material + [Term] id: ENVO:02000105 name: clay dust @@ -639,6 +1334,29 @@ intersection_of: ENVO:02500000 ! environmental system process intersection_of: RO:0002218 NCBITaxon:9606 ! has active participant Homo sapiens relationship: RO:0002218 NCBITaxon:9606 ! has active participant Homo sapiens +[Term] +id: ENVO:02500031 +name: hydrological process +is_a: ENVO:02500000 ! environmental system process + +[Term] +id: ENVO:03000010 +name: material transport process +def: "A process during which material is displaced from it's original location and transported either to a new location or back to the original location." [] +is_a: ENVO:02500000 ! environmental system process + +[Term] +id: ENVO:03000043 +name: material transformation process +def: "A process during which a portion of some environmental material is converted into a different material or a collection of materials." [] +is_a: ENVO:02500000 ! environmental system process + +[Term] +id: ENVO:03000110 +name: cryoform +def: "A geographic feature which is primarily composed of a continuous mass of snow and/or ice." [] +is_a: ENVO:00000000 ! geographic feature + [Term] id: ENVO:09200000 name: temperature of environmental material @@ -649,6 +1367,16 @@ intersection_of: PATO:0000146 ! temperature intersection_of: RO:0000052 ENVO:00010483 ! inheres in environmental material relationship: RO:0000052 ENVO:00010483 ! inheres in environmental material +[Term] +id: ENVO:09200001 +name: temperature of air +def: "The temperature of some air." [] +synonym: "air temperature" EXACT [] +is_a: ENVO:09200000 ! temperature of environmental material +intersection_of: PATO:0000146 ! temperature +intersection_of: RO:0000052 ENVO:00002005 ! inheres in air +relationship: RO:0000052 ENVO:00002005 ! inheres in air + [Term] id: ENVO:09200004 name: porosity of soil @@ -691,6 +1419,16 @@ intersection_of: PATO:0000146 ! temperature intersection_of: RO:0000052 ENVO:00001998 ! inheres in soil relationship: RO:0000052 ENVO:00001998 ! inheres in soil +[Term] +id: ENVO:09200014 +name: temperature of water +def: "The temperature of some water." [] +synonym: "water temperature" EXACT [] +is_a: ENVO:09200000 ! temperature of environmental material +intersection_of: PATO:0000146 ! temperature +intersection_of: RO:0000052 ENVO:00002006 ! inheres in water +relationship: RO:0000052 ENVO:00002006 ! inheres in water + [Term] id: GO:0008150 name: biological_process @@ -924,6 +1662,13 @@ synonym: "content" EXACT [] synonym: "structure, composition" EXACT [] is_a: PATO:0000141 ! structure +[Term] +id: PATO:0000033 +name: concentration of +def: "A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance." [] +synonym: "concentration" EXACT [] +is_a: PATO:0002182 ! molecular quality + [Term] id: PATO:0000048 name: hardness @@ -992,6 +1737,21 @@ synonym: "underdeveloped" NARROW [] is_a: PATO:0000117 ! size is_a: PATO:0002303 ! decreased object quality +[Term] +id: PATO:0000957 +name: opacity +def: "An optical quality which obtains by virtue of the ability of the bearer to absorb visible light." [] +is_a: PATO:0001300 ! optical quality + +[Term] +id: PATO:0000963 +name: opaque +def: "A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy." [] +synonym: "clouding" RELATED [] +synonym: "cloudy" RELATED [] +synonym: "non-transparent" EXACT [] +is_a: PATO:0000957 ! opacity + [Term] id: PATO:0000970 name: permeability @@ -1031,6 +1791,27 @@ synonym: "quality of an object" EXACT [] synonym: "quality of continuant" EXACT [] is_a: PATO:0000001 ! quality +[Term] +id: PATO:0001291 +name: electromagnetic (EM) radiation quality +def: "A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation." [] +is_a: PATO:0001739 ! radiation quality + +[Term] +id: PATO:0001300 +name: optical quality +def: "An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light." [] +is_a: PATO:0001291 ! electromagnetic (EM) radiation quality + +[Term] +id: PATO:0001305 +name: increased temperature +def: "A temperature which is relatively high." [] +synonym: "high temperature" EXACT [] +synonym: "hot" EXACT [] +is_a: PATO:0000146 ! temperature +is_a: PATO:0002305 ! increased object quality + [Term] id: PATO:0001546 name: quality of a solid @@ -1038,6 +1819,40 @@ def: "A physical quality inhering in a bearer by virtue of the bearer's exhibiti synonym: "solidity" EXACT [] is_a: PATO:0002198 ! quality of a substance +[Term] +id: PATO:0001547 +name: quality of a gas +def: "A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape." [] +synonym: "gaseous" EXACT [] +is_a: PATO:0002198 ! quality of a substance + +[Term] +id: PATO:0001548 +name: quality of a liquid +def: "A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape." [] +synonym: "liquidity" EXACT [] +is_a: PATO:0002198 ! quality of a substance + +[Term] +id: PATO:0001655 +name: osmolarity +def: "A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution." [] +is_a: PATO:0000033 ! concentration of + +[Term] +id: PATO:0001657 +name: increased osmolarity +def: "A osmolarity which is relatively high." [] +synonym: "high osmolarity" EXACT [] +is_a: PATO:0001655 ! osmolarity +is_a: PATO:0002305 ! increased object quality + +[Term] +id: PATO:0001739 +name: radiation quality +def: "A quality that inheres in an bearer by virtue of how that bearer interacts with radiation." [] +is_a: PATO:0001018 ! physical quality + [Term] id: PATO:0001759 name: granular @@ -1050,6 +1865,19 @@ name: frozen def: "A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point." [] is_a: PATO:0000146 ! temperature +[Term] +id: PATO:0002124 +name: laminar +def: "A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer." [] +is_a: PATO:0000141 ! structure + +[Term] +id: PATO:0002182 +name: molecular quality +def: "A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc." [] +synonym: "relational molecular quality" EXACT [] +is_a: PATO:0001241 ! physical object quality + [Term] id: PATO:0002198 name: quality of a substance @@ -1242,6 +2070,31 @@ id: RO:0001001 name: derives into def: "a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity" [] +[Typedef] +id: RO:0001015 +name: location of +def: "a relation between two independent continuants, the location and the target, in which the target is entirely within the location" [] +is_transitive: true +inverse_of: RO:0001025 ! located in + +[Typedef] +id: RO:0001018 +name: contained in +domain: BFO:0000040 ! material entity +range: BFO:0000004 ! independent continuant +holds_over_chain: RO:0001025 BFO:0000050 +inverse_of: RO:0001019 ! contains + +[Typedef] +id: RO:0001019 +name: contains + +[Typedef] +id: RO:0001025 +name: located in +def: "a relation between two independent continuants, the target and the location, in which the target is entirely within the location" [] +is_transitive: true + [Typedef] id: RO:0002131 name: overlaps @@ -1359,6 +2212,12 @@ id: RO:0002354 name: formed as result of is_a: RO:0002353 ! output of +[Typedef] +id: RO:0002379 +name: spatially coextensive with +def: "x spatially_coextensive_with y if and inly if x and y have the same location" [] +is_a: RO:0002131 ! overlaps + [Typedef] id: RO:0002410 name: causally related to diff --git a/src/ontology/imports/envo_import.owl b/src/ontology/imports/envo_import.owl index 7f816f5734..eecea74283 100644 --- a/src/ontology/imports/envo_import.owl +++ b/src/ontology/imports/envo_import.owl @@ -199,6 +199,50 @@ + + + + + + a relation between two independent continuants, the location and the target, in which the target is entirely within the location + location of + + + + + + + + + + + + + + + contained in + + + + + + + + contains + + + + + + + + + a relation between two independent continuants, the target and the location, in which the target is entirely within the location + located in + + + + @@ -409,6 +453,22 @@ + + + + + + + + + + + x spatially_coextensive_with y if and inly if x and y have the same location + spatially coextensive with + + + + @@ -600,6 +660,12 @@ + + + + + + + + + + electron donor + + + + + + + + + + + water + + + + + + + + + + dioxygen + + + + + + + + + + carbon dioxide + + + + + + + + + donor + + + + + + + + + + dinitrogen + + + + + + + + + + carbon oxide + + + + + + + + + + chloride salt + + + + + + + + + chlorine molecular entity + + + + @@ -771,663 +925,1614 @@ - + - - - nutrient + + + halogen molecular entity - + - + + + + + hydroxides + + + + + + + - main group molecular entity + inorganic molecular entity - + - - - carbon group molecular entity + + + + inorganic salt - + - - - p-block molecular entity + + + salt - + - - - - biomacromolecule + + + + elemental molecule - + - + - macromolecule + molecule - + - - - subatomic particle + + + + organic oxide - + - - - polyatomic entity + + + + oxide - + - - - mineral + + + oxygen molecular entity - + - - - organic molecular entity + + + + sodium chloride - + - - role + + + sodium molecular entity - + - - - physiological role + + + + sodium salt - + - + + + + inorganic hydride + + + + + + + - chemical substance + atom - + - - - food component + + + elemental molecular entity - + - - - macroscopic spatial feature - geographic feature + + + + + elemental oxygen - + - - - An anthropogenic geographic feature is a geographic feature -resulting from the influence of human beings on nature. - man-made feature - manmade feature - anthropogenic geographic feature + + + diatomic oxygen - + - - - - - - - - - - - - - - - - - - - - - - - - - - A feature that has been constructed by deliberate human effort. - constructed feature - construction + + + diatomic nitrogen - + - - - - - - - - - A permanent walled and roofed construction. - BUILDING - building - building + + + + elemental nitrogen - + - - - - - - - - - - - - - - - - A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids. - rock + + + nutrient - + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Soil is an environmental material which is primarily composed of minerals, varying proportions of sand, silt, and clay, organic material such as humus, gases, liquids, and a broad range of resident micro- and macroorganisms. - regolith - soil + + + heteroorganic entity - + - - - An environmental feature that is, or can be, contained and is predominantly composed of one or a few types of stuff. - mesoscopic physical object + + + alkali metal molecular entity - + - - - - - - - - - Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere. - dust + + + pnictogen molecular entity - + - - - A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis. - sedimentary rock + + + chalcogen molecular entity - + - - - - - - - - - - - - - - - - - - - - A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process). - waste material + + + + + elemental pnictogen - + - - - - - - - - - - - - - - - - - - - - A material entity which determines an environmental system. - environmental feature + + + metal atom - + - - - - - - - - - The biomass remaining after sugarcane stalks are crushed to extract their juice. - sugarcane bagasse - bagasse + + + main group molecular entity - + - - - - - - - - - - A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water. - clay + + + carbon group molecular entity - + - - - A fermented, high-moisture forage that can be fed to ruminants. - silage + + + noble gas molecular entity - + - - - - - - - - - - - - - - - - - - - - A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. - manufactured good - manufactured product + + + hydrogen molecular entity - + - - - anthropogenic abiotic mesoscopic feature + + + s-block molecular entity - + - - - A portion of environmental material is a fiat object which forms the medium or part of the medium of an environmental system. - portion of environmental material - environmental material + + + p-block molecular entity - + - - - Anthropogenic material in or on which organisms may live. - anthropogenic environmental material + + + + helium molecular entity - + - - - agricultural environmental material + + + + hydrides - + - - - abiotic mesoscopic physical object + + + oxygen hydride - + - - - - - - - - - - - - - - - - Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar. - silt + + + + biomacromolecule - + - - - - - - - - - A naturally occurring granular material composed of finely divided rock and mineral particles. - sand + + + macromolecule - + - - - - - - - - - Environmental material derived from living organisms. - biomass - organic material + + + + halide salt - + - - - A system which has the disposition to environ one or more material entities. - environment - environmental system + + + + alkali metal salt - + - - - - - - - - - - - - - - - + + + + inorganic chloride + + + + + + + + + subatomic particle + + + + + + + + + polyatomic entity + + + + + + + + + + chalcogen hydride + + + + + + + + + argon molecular entity + + + + + + + + + + organochalcogen compound + + + + + + + + + + organooxygen compound + + + + + + + + + mononuclear parent hydride + + + + + + + + + heteroatomic molecular entity + + + + + + + + + + halide + + + + + + + + + + inorganic sodium salt + + + + + + + + + mineral + + + + + + + + + organic molecular entity + + + + + + + + role + + + + + + + + + chemical role + + + + + + + + + nitrogen molecular entity + + + + + + + + + physiological role + + + + + + + + + + inorganic hydroxy compound + + + + + + + + + chemical substance + + + + + + + + + one-carbon compound + + + + + + + + + + organic molecule + + + + + + + + + greenhouse gas + + + + + + + + + food component + + + + + + + + + macroscopic spatial feature + geographic feature + + + + + + + + + An anthropogenic geographic feature is a geographic feature +resulting from the influence of human beings on nature. + man-made feature + manmade feature + anthropogenic geographic feature + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A feature that has been constructed by deliberate human effort. + constructed feature + construction + + + + + + + + + + + + + + + A permanent walled and roofed construction. + BUILDING + building + building + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A hydrographic feature characterized by the dominance of snow or ice. + glacer + Ice + LandIce + glacial landform + glacier feature + glacial feature + + + + + + + + + + + + + + + + Soil at or below the freezing point of water (0C or 32F) for two or more years. Ice is not always present, as may be in the case of nonporous bedrock, but it frequently occurs and it may be in amounts exceeding the potential hydraulic saturation of the ground material. + Permafrost + permafrost + + + + + + + + + + + + + + + + + + + + + + A rock is a naturally occurring solid aggregate of one or more minerals or mineraloids. + rock + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Soil is an environmental material which is primarily composed of minerals, varying proportions of sand, silt, and clay, organic material such as humus, gases, liquids, and a broad range of resident micro- and macroorganisms. + regolith + soil + + + + + + + + + An environmental feature that is, or can be, contained and is predominantly composed of one or a few types of stuff. + mesoscopic physical object + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The mixture of gases (roughly (by molar content/volume: 78% nitrogen, 20.95% oxygen, 0.93% argon, 0.038% carbon dioxide, trace amounts of other gases, and a variable amount (average around 1%) of water vapor) that surrounds the planet Earth. + air + + + + + + + + + + + + + + + + + + + + + An environmental material primarily composed of dihydrogen oxide in its liquid form. + water + + + + + + + + + + + + + + + Minute solid particles with diameters less than 500 micrometers. Occurs in and may be deposited from, the atmosphere. + dust + + + + + + + + + A rock formed by deposition of either clastic sediments, organic matter, or chemical precipitates (evaporites), followed by compaction of the particulate matter and cementation during diagenesis. + sedimentary rock + + + + + + + + + + + + + + + + + + + + + + + + + + A material which is not the desired output of a process and which is typically the input of a process which removes it from its producer (e.g. a disposal process). + waste material + + + + + + + + + + + + + + + + + + + + + + + + + + A material entity which determines an environmental system. + environmental feature + + + + + + + + + + + + + + + The biomass remaining after sugarcane stalks are crushed to extract their juice. + sugarcane bagasse + bagasse + + + + + + + + + + + + + + + + A group of hydrous aluminium phyllosilicate (phyllosilicates being a subgroup of silicate minerals) minerals (see clay minerals), that are typically less than 2 micrometres in diameter. Clay consists of a variety of phyllosilicate minerals rich in silicon and aluminium oxides and hydroxides which include variable amounts of structural water. + clay + + + + + + + + + A fermented, high-moisture forage that can be fed to ruminants. + silage + + + + + + + + + + + + + + + + + + + + + + + + + + A material entity that has been processed by humans or their technology in any way, including intermediate products as well as final products. + manufactured good + manufactured product + + + + + + + + + anthropogenic abiotic mesoscopic feature + + + + + + + + + + + + + + + + + + + + + + + + + + A portion of enriched soil is a portion of soil with elevated levels of some material entity. + enriched soil + + + + + + + + + A portion of environmental material is a fiat object which forms the medium or part of the medium of an environmental system. + portion of environmental material + environmental material + + + + + + + + + + + + + + + + + + + + + + + + + + + + Airborne solid particles (also called dust or particulate matter (PM)) or liquid droplets. + aerosol + + + + + + + + + Anthropogenic material in or on which organisms may live. + anthropogenic environmental material + + + + + + + + + agricultural environmental material + + + + + + + + + abiotic mesoscopic physical object + + + + + + + + + + + + + + + + + + + + + + Silt is granular material of a size somewhere between sand and clay whose mineral origin is quartz and feldspar. + silt + + + + + + + + + + + + + + + A naturally occurring granular material composed of finely divided rock and mineral particles. + sand + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Particulate material is an environmental material which is composed of microscopic portions of solid or liquid material suspended in another environmental material. + particulate matter + + + + + + + + + + + + + + + Environmental material derived from living organisms. + biomass + organic material + + + + + + + + + A system which has the disposition to environ one or more material entities. + environment + environmental system + + + + + + + + + + + + + + + + + + + + + - - + + + + + A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure. + mineral material + + + + + + + + + + + + + + + + + + + + + Water vapour is a vapour which is the gas phase of water. + aqueous vapor + aqueous vapour + water vapor + water vapour + + + + + + + + + + + + + + + + + + + + + + + + + An atmosphere is a layer of gases surrounding a material body of sufficient mass that is held in place by the gravity of the body. + atmosphere + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Atmospheric water vapour is water vapour that is part of an atmosphere. + atmospheric water vapor + atmospheric water vapour + + + + + + + + + + + + + + + Ice is water frozen into a solid state. It can appear transparent or opaque bluish-white color, depending on the presence of impurities or air inclusions. The addition of other materials such as soil may further alter its appearance. + ice + water ice + + + + + + + + + + + + + + + A layer is a quantity of some material which has comparable thickness and usually covers some surface. + layer + + + + + + + + + + + + + + + + + + + + + + + + + + An endolithic environment is an environment that exists within solid rock. + endolithic environment + + + + + + + + + + + + + + + + + + + + + + + + + + A high temperature environment is an environment in which material entities are exposed to increased levels of heat radiation or which have molecules or atoms moving randomly with increased levels of average kinietic energy. + high temperature environment + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + - A mineral material is an environmental material which is primarily composed of some substance that is naturally occurring, solid and stable at room temperature, representable by a chemical formula, usually abiogenic, and that has an ordered atomic structure. - mineral material + An anthropogenic environment is an environmental system which is the product of human activity. + anthropogenic environment - + - + - + - - + + - + - - + + - An endolithic environment is an environment that exists within solid rock. - endolithic environment + A high osmolarity environment is an environment in which entities are exposed to high concentrations of solutes. + high osmolarity environment - + - + - - - - - - + - + + - + + + + An environment whose dynamics are strongly influenced by water. + aquatic environment + + + + + + + + + + + - - + + - + + + + + + + + - An anthropogenic environment is an environmental system which is the product of human activity. - anthropogenic environment + A layer in a water mass, itself composed primarily of water. + aquatic layer + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Snow is an environmental material which is primarily composed of flakes of crystalline water ice. + snow + snow @@ -1448,6 +2553,30 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + Hydrological condensation is a process in which atmospheric water vapour undergoes a phase transition from the gas phase to the liquid phase. + condensation + hydrological condensation process + + + + @@ -1459,6 +2588,60 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + A planetary structural layer is laminar part of a terrestrial planet or other rocky body large enough to have differentiation by density. Planetary layers have differing physicochemical properties and composition. + planetary structural layer + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Magma is a mixture of molten or semi-molten rock, volatiles, and solids that is found beneath the uppermost solid layer of a planetary body. Besides molten rock, magma may also contain suspended crystals, dissolved gas and sometimes gas bubbles. + magma + + + + @@ -1469,6 +2652,163 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Hydrological precipitation is a process during which any product of the condensation of atmospheric water vapour is pulled to the planetary surface by gravity. + precipitation + hydrological precipitation process + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Condensation is a process during which a gas undergoes a phase transition into a liquid. + condensation process + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An aeroform is a geographic feature which is primarily composed of a continuous volume of gaseous or aerosolised material held in shape by one or more environmental processes. + aeroform + + + + + + + + + + + + + + + + + + + + + + + + + + A material entity which is composed of one or more chemical entities and has neither independent shape nor volume but tends to expand indefinitely. + gas + gaseous environmental material + + + + @@ -1480,6 +2820,16 @@ resulting from the influence of human beings on nature. + + + + + A planet is an astronomical body orbiting a star or stellar remnant that is massive enough to be rounded by its own gravity, is not massive enough to cause thermonuclear fusion, and has cleared its neighbouring region of planetesimals. + planet + + + + @@ -1547,6 +2897,33 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + An environmental material which is in a liquid state. + liquid environmental material + + + + @@ -1564,6 +2941,16 @@ resulting from the influence of human beings on nature. + + + + + A precipitation process is a process in which a portion of some substance segregates from a material in which that substance or its precursors were dissolved or suspended in and settles due to a force such as gravity or centrifugal force. + precipitation process + + + + @@ -1627,6 +3014,50 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A planet that is composed primarily of silicate rocks or metals. + rocky planet + telluric planet + Earth-like planet + terrestrial planet + + + + @@ -1840,6 +3271,93 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + A meteor is any matter- or energy-based entity which is located in the atmosphere of an astronomical body. + meteor + + + + + + + + + + + + + + + + + + + + + + + + + + A meteor which is primarily composed of water. + hydrometeor + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A meteor which is primarily composed of rock. + lithometeor + + + + @@ -1872,30 +3390,246 @@ resulting from the influence of human beings on nature. - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An environment which is determined by materials which bear significant concentrations of salts. + saline environment + + + + + + + + + + + + + + + + + + + + + + + + + + + An environmental system which has its properties and dynamics determined by soil. + soil environment + + + + + + + + + + + + + + + + + + + + + + + + + + An environmental system which has its properties and dynamics determined by an aerosol. + aerosol environment + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An environmental system which has its properties and dynamics determined by a saline aerosol. + saline aerosol environment + + + + + - + - + - + + + + + + + + + + + + + + + + + + + + + + + - - + - + + + + + + + + + + + + + + + + + + + + + + + - An environmental system which has its properties and dynamics determined by soil. - soil environment + An environmental system which has its properties and dynamics determined by an aerosol with a low concentration of dissolved solutes. + non-saline aerosol environment @@ -1984,6 +3718,171 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + + + An astronomical body which is composed of rocky or metallic materials and is considerably smaller than asteroids. + meteoroid + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A material which is composed primarily of one or more pure metals and which shows their properties. + metal + metallic material + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An aerosol which is primarily composed of liquid droplets. + liquid aerosol + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An aerosol which is primarily composed of solid particles. + solid aerosol + + + + @@ -2029,6 +3928,69 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A planet which is primarily composed of hydrogen and helium. + gas planet + + + + @@ -2064,8 +4026,77 @@ resulting from the influence of human beings on nature. - An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure. - ice + An ice is an environmental material which is either frozen or which is maintained in a solid state by gravitational forces or pressure. + ice + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A gas planet which has an atmosphere composed primarily of helium. + helium planet + + + + + + + + + A material which is composed primarily of chemical elements and compounds with relatively low boiling points, equilibrium condensation temperatures below 1300 Kelvin, and which are part of the crust or atmosphere of a moon or planet. + volatile + volatile astrogeological material + + + + + + + + + An astrogeological volatile which is composed primarily of chemical compounds with boiling points around those of hydrogen and helium. + gas + astrogeological gas @@ -2147,6 +4178,38 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + + + + + + + metallic dust + + + + @@ -2268,6 +4331,125 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + hydrological process + + + + + + + + + A process during which material is displaced from it's original location and transported either to a new location or back to the original location. + material transport process + + + + + + + + + A process during which a portion of some environmental material is converted into a different material or a collection of materials. + material transformation process + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A geographic feature which is primarily composed of a continuous mass of snow and/or ice. + cryoform + + + + @@ -2296,6 +4478,34 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + The temperature of some air. + air temperature + temperature of air + + + + @@ -2410,6 +4620,34 @@ resulting from the influence of human beings on nature. + + + + + + + + + + + + + + + + + + + + + + The temperature of some water. + water temperature + temperature of water + + + + @@ -2783,6 +5021,17 @@ resulting from the influence of human beings on nature. + + + + + A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. + concentration + concentration of + + + + @@ -2887,6 +5136,29 @@ resulting from the influence of human beings on nature. + + + + + An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. + opacity + + + + + + + + + A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. + non-transparent + clouding + cloudy + opaque + + + + @@ -2946,6 +5218,39 @@ resulting from the influence of human beings on nature. + + + + + A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. + electromagnetic (EM) radiation quality + + + + + + + + + An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. + optical quality + + + + + + + + + + A temperature which is relatively high. + high temperature + hot + increased temperature + + + + @@ -2957,6 +5262,76 @@ resulting from the influence of human beings on nature. + + + + + A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. + gaseous + quality of a gas + + + + + + + + + A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. + liquidity + quality of a liquid + + + + + + + + + A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution. + osmolarity + + + + + + + + + + A osmolarity which is relatively high. + high osmolarity + increased osmolarity + + + + + + + + + + + + + + + + + + + + + + + + + A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. + radiation quality + + + + @@ -2977,6 +5352,27 @@ resulting from the influence of human beings on nature. + + + + + A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. + laminar + + + + + + + + + A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. + relational molecular quality + molecular quality + + + + diff --git a/src/ontology/imports/foodon_import.obo b/src/ontology/imports/foodon_import.obo index 99b3571481..be084960f6 100644 --- a/src/ontology/imports/foodon_import.obo +++ b/src/ontology/imports/foodon_import.obo @@ -1,6 +1,5 @@ format-version: 1.2 ontology: mondo/imports/foodon_import -owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\n############################\n# Object Properties\n############################\n\n# Object Property: ()\n\nEquivalentObjectProperties( ObjectInverseOf())\n\n# Object Property: ()\n\nEquivalentObjectProperties( ObjectInverseOf())\n\n# Object Property: ()\n\nIrreflexiveObjectProperty()\n\n\n############################\n# Classes\n############################\n\n# Class: ()\n\nEquivalentClasses( ObjectIntersectionOf( ObjectUnionOf( )))\n\n# Class: ()\n\n\n# Class: ()\n\n\n# Class: ()\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: ()\n\nEquivalentClasses( ObjectUnionOf( ObjectIntersectionOf( ObjectSomeValuesFrom( ))))\n\n\nDisjointClasses( )\n) [Term] id: BFO:0000001 diff --git a/src/ontology/imports/go_import.obo b/src/ontology/imports/go_import.obo index e3c5a4a1d9..49fa19774e 100644 --- a/src/ontology/imports/go_import.obo +++ b/src/ontology/imports/go_import.obo @@ -14,6 +14,15 @@ def: "The production of new individuals that contain some portion of genetic mat synonym: "reproductive physiological process" EXACT [] is_a: GO:0008150 ! biological_process +[Term] +id: GO:0000018 +name: regulation of DNA recombination +def: "Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents." [] +is_a: GO:0051052 ! regulation of DNA metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006310 ! regulates DNA recombination +relationship: RO:0002211 GO:0006310 ! regulates DNA recombination + [Term] id: GO:0000041 name: transition metal ion transport @@ -32,6 +41,18 @@ is_a: GO:0019627 ! urea metabolic process is_a: GO:0043604 ! amide biosynthetic process is_a: GO:1901566 ! organonitrogen compound biosynthetic process +[Term] +id: GO:0000070 +name: mitotic sister chromatid segregation +def: "The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets." [] +synonym: "mitotic chromosome segregation" EXACT [] +synonym: "mitotic sister-chromatid adhesion release" NARROW [] +is_a: GO:0000819 ! sister chromatid segregation +is_a: GO:1903047 ! mitotic cell cycle process +intersection_of: GO:0098813 ! nuclear chromosome segregation +intersection_of: BFO:0000050 GO:0140014 ! part of mitotic nuclear division +relationship: BFO:0000050 GO:0140014 ! part of mitotic nuclear division + [Term] id: GO:0000096 name: sulfur amino acid metabolic process @@ -65,6 +86,16 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0006366 ! negatively regulates transcription by RNA polymerase II relationship: RO:0002212 GO:0006366 ! negatively regulates transcription by RNA polymerase II +[Term] +id: GO:0000226 +name: microtubule cytoskeleton organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins." [] +synonym: "microtubule cytoskeleton organisation" EXACT [] +synonym: "microtubule cytoskeleton organization and biogenesis" RELATED [] +synonym: "microtubule dynamics" EXACT [] +is_a: GO:0007010 ! cytoskeleton organization +is_a: GO:0007017 ! microtubule-based process + [Term] id: GO:0000228 name: nuclear chromosome @@ -111,6 +142,16 @@ is_a: GO:0005976 ! polysaccharide metabolic process is_a: GO:0009057 ! macromolecule catabolic process is_a: GO:0016052 ! carbohydrate catabolic process +[Term] +id: GO:0000278 +name: mitotic cell cycle +def: "Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent." [] +synonym: "mitosis" RELATED [] +is_a: GO:0007049 ! cell cycle +intersection_of: GO:0007049 ! cell cycle +intersection_of: BFO:0000051 GO:0140014 ! has_part mitotic nuclear division +relationship: BFO:0000051 GO:0140014 ! has_part mitotic nuclear division + [Term] id: GO:0000280 name: nuclear division @@ -118,6 +159,15 @@ def: "The division of a cell nucleus into two nuclei, with DNA and other nuclear synonym: "karyokinesis" RELATED [] is_a: GO:0048285 ! organelle fission +[Term] +id: GO:0000313 +name: organellar ribosome +def: "A ribosome contained within a subcellular membrane-bounded organelle." [] +is_a: GO:0005840 ! ribosome +is_a: GO:0044422 ! organelle part +intersection_of: GO:0005840 ! ribosome +intersection_of: BFO:0000050 GO:0043226 ! part of organelle + [Term] id: GO:0000323 name: lytic vacuole @@ -150,6 +200,25 @@ is_a: GO:0044454 ! nuclear chromosome part intersection_of: GO:0000785 ! chromatin intersection_of: BFO:0000050 GO:0005634 ! part of nucleus +[Term] +id: GO:0000791 +name: euchromatin +def: "A dispersed and relatively uncompacted form of chromatin." [] +is_a: GO:0000785 ! chromatin + +[Term] +id: GO:0000792 +name: heterochromatin +def: "A compact and highly condensed form of chromatin." [] +is_a: GO:0000785 ! chromatin + +[Term] +id: GO:0000819 +name: sister chromatid segregation +def: "The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets." [] +is_a: GO:0051276 ! chromosome organization +is_a: GO:0098813 ! nuclear chromosome segregation + [Term] id: GO:0000820 name: regulation of glutamine family amino acid metabolic process @@ -223,6 +292,12 @@ name: regulation of neurotransmitter levels def: "Any process that modulates levels of neurotransmitter." [] is_a: GO:0065008 ! regulation of biological quality +[Term] +id: GO:0001508 +name: action potential +def: "A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities." [] +is_a: GO:0042391 ! regulation of membrane potential + [Term] id: GO:0001523 name: retinoid metabolic process @@ -245,6 +320,21 @@ synonym: "vascular morphogenesis" EXACT [] is_a: GO:0030154 ! cell differentiation relationship: BFO:0000050 GO:0048514 ! part of blood vessel morphogenesis +[Term] +id: GO:0001578 +name: microtubule bundle formation +def: "A process that results in a parallel arrangement of microtubules." [] +synonym: "microtubule bundling" EXACT [] +is_a: GO:0000226 ! microtubule cytoskeleton organization + +[Term] +id: GO:0001649 +name: osteoblast differentiation +def: "The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone." [] +synonym: "osteoblast cell differentiation" EXACT [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0001503 ! part of ossification + [Term] id: GO:0001654 name: eye development @@ -260,6 +350,18 @@ synonym: "amoeboid cell migration" EXACT [] synonym: "amoeboidal cell migration" EXACT [] is_a: GO:0016477 ! cell migration +[Term] +id: GO:0001675 +name: acrosome assembly +def: "The formation of the acrosome from the spermatid Golgi." [] +synonym: "acrosome formation" EXACT [] +is_a: GO:0003006 ! developmental process involved in reproduction +is_a: GO:0010927 ! cellular component assembly involved in morphogenesis +is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism +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:0001755 name: neural crest cell migration @@ -267,6 +369,12 @@ def: "The characteristic movement of cells from the dorsal ridge of the neural t is_a: GO:0001667 ! ameboidal-type cell migration relationship: BFO:0000050 GO:0014032 ! part of neural crest cell development +[Term] +id: GO:0001773 +name: myeloid dendritic cell activation +def: "The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor." [] +is_a: GO:0002274 ! myeloid leukocyte activation + [Term] id: GO:0001775 name: cell activation @@ -416,6 +524,69 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0016068 ! positively regulates type I hypersensitivity relationship: RO:0002213 GO:0016068 ! positively regulates type I hypersensitivity +[Term] +id: GO:0001816 +name: cytokine production +def: "The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "interferon production" NARROW [] +synonym: "interleukin production" NARROW [] +is_a: GO:0032501 ! multicellular organismal process + +[Term] +id: GO:0001817 +name: regulation of cytokine production +def: "Any process that modulates the frequency, rate, or extent of production of a cytokine." [] +is_a: GO:0051239 ! regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001816 ! regulates cytokine production +relationship: RO:0002211 GO:0001816 ! regulates cytokine production + +[Term] +id: GO:0001818 +name: negative regulation of cytokine production +def: "Any process that stops, prevents, or reduces the rate of production of a cytokine." [] +synonym: "down regulation of cytokine production" EXACT [] +synonym: "down-regulation of cytokine production" EXACT [] +synonym: "downregulation of cytokine production" EXACT [] +synonym: "inhibition of cytokine production" NARROW [] +is_a: GO:0001817 ! regulation of cytokine production +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001816 ! negatively regulates cytokine production +relationship: RO:0002212 GO:0001816 ! negatively regulates cytokine production + +[Term] +id: GO:0001819 +name: positive regulation of cytokine production +def: "Any process that activates or increases the frequency, rate or extent of production of a cytokine." [] +synonym: "activation of cytokine production" NARROW [] +synonym: "stimulation of cytokine production" NARROW [] +synonym: "up regulation of cytokine production" EXACT [] +synonym: "up-regulation of cytokine production" EXACT [] +synonym: "upregulation of cytokine production" EXACT [] +is_a: GO:0001817 ! regulation of cytokine production +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001816 ! positively regulates cytokine production +relationship: RO:0002213 GO:0001816 ! positively regulates cytokine production + +[Term] +id: GO:0001820 +name: serotonin secretion +def: "The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells." [] +synonym: "5-HT secretion" EXACT [] +synonym: "5-hydroxytryptamine secretion" EXACT [] +synonym: "serotonin release" RELATED [] +is_a: GO:0006837 ! serotonin transport +is_a: GO:0032940 ! secretion by cell + +[Term] +id: GO:0001821 +name: histamine secretion +def: "The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems." [] +is_a: GO:0046903 ! secretion +is_a: GO:0051608 ! histamine transport + [Term] id: GO:0001838 name: embryonic epithelial tube formation @@ -514,6 +685,69 @@ synonym: "tissue maintenance" NARROW [] is_a: GO:0060249 ! anatomical structure homeostasis relationship: BFO:0000050 GO:0048871 ! part of multicellular organismal homeostasis +[Term] +id: GO:0001906 +name: cell killing +def: "Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions." [] +synonym: "necrosis" RELATED [] +is_a: GO:0008150 ! biological_process + +[Term] +id: GO:0001909 +name: leukocyte mediated cytotoxicity +def: "The directed killing of a target cell by a leukocyte." [] +synonym: "immune cell mediated cell death" EXACT [] +synonym: "immune cell mediated cell killing" EXACT [] +synonym: "immune cell mediated cytotoxicity" EXACT [] +synonym: "leucocyte mediated cytotoxicity" EXACT [] +is_a: GO:0001906 ! cell killing + +[Term] +id: GO:0001910 +name: regulation of leukocyte mediated cytotoxicity +def: "Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity." [] +synonym: "regulation of immune cell mediated cell death" EXACT [] +synonym: "regulation of immune cell mediated cell killing" EXACT [] +synonym: "regulation of immune cell mediated cytotoxicity" EXACT [] +synonym: "regulation of leucocyte mediated cytotoxicity" EXACT [] +is_a: GO:0031341 ! regulation of cell killing +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001909 ! regulates leukocyte mediated cytotoxicity +relationship: RO:0002211 GO:0001909 ! regulates leukocyte mediated cytotoxicity + +[Term] +id: GO:0001911 +name: negative regulation of leukocyte mediated cytotoxicity +def: "Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity." [] +synonym: "down regulation of leukocyte mediated cytotoxicity" EXACT [] +synonym: "down-regulation of leukocyte mediated cytotoxicity" EXACT [] +synonym: "downregulation of leukocyte mediated cytotoxicity" EXACT [] +synonym: "inhibition of leukocyte mediated cytotoxicity" NARROW [] +synonym: "negative regulation of immune cell mediated cytotoxicity" EXACT [] +synonym: "negative regulation of leucocyte mediated cytotoxicity" EXACT [] +is_a: GO:0001910 ! regulation of leukocyte mediated cytotoxicity +is_a: GO:0031342 ! negative regulation of cell killing +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001909 ! negatively regulates leukocyte mediated cytotoxicity +relationship: RO:0002212 GO:0001909 ! negatively regulates leukocyte mediated cytotoxicity + +[Term] +id: GO:0001912 +name: positive regulation of leukocyte mediated cytotoxicity +def: "Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity." [] +synonym: "activation of leukocyte mediated cytotoxicity" NARROW [] +synonym: "positive regulation of immune cell mediated cytotoxicity" EXACT [] +synonym: "positive regulation of leucocyte mediated cytotoxicity" EXACT [] +synonym: "stimulation of leukocyte mediated cytotoxicity" NARROW [] +synonym: "up regulation of leukocyte mediated cytotoxicity" EXACT [] +synonym: "up-regulation of leukocyte mediated cytotoxicity" EXACT [] +synonym: "upregulation of leukocyte mediated cytotoxicity" EXACT [] +is_a: GO:0001910 ! regulation of leukocyte mediated cytotoxicity +is_a: GO:0031343 ! positive regulation of cell killing +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:0001944 name: vasculature development @@ -627,6 +861,89 @@ 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:0002200 +name: somatic diversification of immune receptors +def: "The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences." [] +is_a: GO:0002376 ! immune system process +relationship: BFO:0000050 GO:0002520 ! part of immune system development + +[Term] +id: GO:0002204 +name: somatic recombination of immunoglobulin genes involved in immune response +def: "The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response." [] +synonym: "somatic recombination of antibody genes during immune response" RELATED [] +synonym: "somatic recombination of immunoglobulin genes during immune response" RELATED [] +is_a: GO:0002208 ! somatic diversification of immunoglobulins involved in immune response +is_a: GO:0016447 ! somatic recombination of immunoglobulin gene segments + +[Term] +id: GO:0002208 +name: somatic diversification of immunoglobulins involved in immune response +def: "The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response." [] +synonym: "somatic diversification of antibodies during immune response" RELATED [] +synonym: "somatic diversification of immunoglobulins during immune response" RELATED [] +is_a: GO:0016445 ! somatic diversification of immunoglobulins +relationship: BFO:0000050 GO:0002381 ! part of immunoglobulin production involved in immunoglobulin mediated immune response + +[Term] +id: GO:0002225 +name: positive regulation of antimicrobial peptide production +def: "Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production." [] +synonym: "activation of antimicrobial peptide production" NARROW [] +synonym: "antimicrobial peptide induction" EXACT [] +synonym: "stimulation of antimicrobial peptide production" NARROW [] +synonym: "up regulation of antimicrobial peptide production" EXACT [] +synonym: "up-regulation of antimicrobial peptide production" EXACT [] +synonym: "upregulation of antimicrobial peptide production" EXACT [] +is_a: GO:0002702 ! positive regulation of production of molecular mediator of immune response +is_a: GO:0002760 ! positive regulation of antimicrobial humoral response +is_a: GO:0002784 ! regulation of antimicrobial peptide production +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002775 ! positively regulates antimicrobial peptide production +relationship: RO:0002213 GO:0002775 ! positively regulates antimicrobial peptide production + +[Term] +id: GO:0002228 +name: natural killer cell mediated immunity +def: "The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines." [] +synonym: "NK cell mediated immunity" EXACT [] +is_a: GO:0002449 ! lymphocyte mediated immunity +is_a: GO:0045087 ! innate immune response + +[Term] +id: GO:0002232 +name: leukocyte chemotaxis involved in inflammatory response +def: "The movement of an immune cell in response to an external stimulus contributing to an inflammatory response." [] +synonym: "immune cell chemotaxis during inflammatory response" RELATED [] +synonym: "leucocyte chemotaxis during inflammatory response" RELATED [] +synonym: "leukocyte chemotaxis during inflammatory response" RELATED [] +is_a: GO:0002523 ! leukocyte migration involved in inflammatory response +is_a: GO:0030595 ! leukocyte chemotaxis +intersection_of: GO:0030595 ! leukocyte chemotaxis +intersection_of: BFO:0000050 GO:0006954 ! part of inflammatory response + +[Term] +id: GO:0002233 +name: leukocyte chemotaxis involved in immune response +def: "The movement of an immune cell in response to an external stimulus a part of an immune response." [] +synonym: "immune cell chemotaxis during immune response" EXACT [] +synonym: "leucocyte chemotaxis during immune response" EXACT [] +is_a: GO:0002522 ! leukocyte migration involved in immune response +is_a: GO:0030595 ! leukocyte chemotaxis +intersection_of: GO:0030595 ! leukocyte chemotaxis +intersection_of: BFO:0000050 GO:0006955 ! part of immune response + +[Term] +id: GO:0002244 +name: hematopoietic progenitor cell differentiation +def: "The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells." [] +synonym: "haematopoietic progenitor cell differentiation" EXACT [] +synonym: "haemopoietic progenitor cell differentiation" EXACT [] +synonym: "hemopoietic progenitor cell differentiation" EXACT [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0030097 ! part of hemopoiesis + [Term] id: GO:0002246 name: wound healing involved in inflammatory response @@ -703,6 +1020,16 @@ synonym: "myeloid cell activation during immune response" RELATED [] is_a: GO:0002274 ! myeloid leukocyte activation is_a: GO:0002366 ! leukocyte activation involved in immune response +[Term] +id: GO:0002277 +name: myeloid dendritic cell activation involved in immune response +def: "The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response." [] +synonym: "myeloid dendritic cell activation during immune response" RELATED [] +is_a: GO:0001773 ! myeloid dendritic cell activation +is_a: GO:0002275 ! myeloid cell activation involved in immune response +intersection_of: GO:0001773 ! myeloid dendritic cell activation +intersection_of: BFO:0000050 GO:0006955 ! part of immune response + [Term] id: GO:0002279 name: mast cell activation involved in immune response @@ -723,6 +1050,16 @@ is_a: GO:0042116 ! macrophage activation intersection_of: GO:0042116 ! macrophage activation intersection_of: BFO:0000050 GO:0006955 ! part of immune response +[Term] +id: GO:0002284 +name: myeloid dendritic cell differentiation involved in immune response +def: "The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response." [] +synonym: "myeloid dendritic cell differentiation during immune response" RELATED [] +is_a: GO:0002277 ! myeloid dendritic cell activation involved in immune response +is_a: GO:0043011 ! myeloid dendritic cell differentiation +intersection_of: GO:0043011 ! myeloid dendritic cell differentiation +intersection_of: BFO:0000050 GO:0006955 ! part of immune response + [Term] id: GO:0002285 name: lymphocyte activation involved in immune response @@ -760,6 +1097,86 @@ is_a: GO:0030217 ! T cell differentiation intersection_of: GO:0030217 ! T cell differentiation intersection_of: BFO:0000050 GO:0006955 ! part of immune response +[Term] +id: GO:0002312 +name: B cell activation involved in immune response +def: "The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [] +synonym: "B cell activation during immune response" RELATED [] +synonym: "B lymphocyte activation during immune response" RELATED [] +synonym: "B-cell activation during immune response" RELATED [] +synonym: "B-lymphocyte activation during immune response" RELATED [] +is_a: GO:0002285 ! lymphocyte activation involved in immune response +is_a: GO:0042113 ! B cell activation +intersection_of: GO:0042113 ! B cell activation +intersection_of: BFO:0000050 GO:0006955 ! part of immune response + +[Term] +id: GO:0002313 +name: mature B cell differentiation involved in immune response +def: "The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response." [] +synonym: "mature B cell development involved in immune response" RELATED [] +synonym: "mature B cell differentiation during immune response" RELATED [] +synonym: "mature B lymphocyte differentiation during immune response" RELATED [] +synonym: "mature B-cell differentiation during immune response" RELATED [] +synonym: "mature B-lymphocyte differentiation during immune response" RELATED [] +is_a: GO:0002312 ! B cell activation involved in immune response +is_a: GO:0002335 ! mature B cell differentiation +intersection_of: GO:0002335 ! mature B cell differentiation +intersection_of: BFO:0000050 GO:0006955 ! part of immune response + +[Term] +id: GO:0002335 +name: mature B cell differentiation +def: "The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen." [] +synonym: "mature B lymphocyte differentiation" EXACT [] +synonym: "mature B-cell differentiation" EXACT [] +synonym: "mature B-lymphocyte differentiation" EXACT [] +synonym: "mature cell development" RELATED [] +is_a: GO:0030183 ! B cell differentiation + +[Term] +id: GO:0002339 +name: B cell selection +def: "The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival." [] +synonym: "B lymphocyte selection" EXACT [] +synonym: "B-cell selection" EXACT [] +synonym: "B-lymphocyte selection" EXACT [] +is_a: GO:0002376 ! immune system process +relationship: BFO:0000050 GO:0030183 ! part of B cell differentiation + +[Term] +id: GO:0002343 +name: peripheral B cell selection +def: "Any B cell selection process that occurs in the periphery." [] +synonym: "peripheral B lymphocyte selection" EXACT [] +synonym: "peripheral B-cell selection" EXACT [] +synonym: "peripheral B-lymphocyte selection" EXACT [] +is_a: GO:0002339 ! B cell selection + +[Term] +id: GO:0002344 +name: B cell affinity maturation +def: "The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen." [] +synonym: "B lymphocyte affinity maturation" EXACT [] +synonym: "B-cell affinity maturation" EXACT [] +synonym: "B-lymphocyte affinity maturation" EXACT [] +is_a: GO:0002343 ! peripheral B cell selection +relationship: BFO:0000050 GO:0002381 ! part of immunoglobulin production involved in immunoglobulin mediated immune response + +[Term] +id: GO:0002349 +name: histamine production involved in inflammatory response +def: "The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "histamine production involved in acute inflammatory response" BROAD [] +is_a: GO:0002532 ! production of molecular mediator involved in inflammatory response + +[Term] +id: GO:0002351 +name: serotonin production involved in inflammatory response +def: "The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "serotonin production involved in acute inflammatory response" BROAD [] +is_a: GO:0002532 ! production of molecular mediator involved in inflammatory response + [Term] id: GO:0002366 name: leukocyte activation involved in immune response @@ -772,12 +1189,42 @@ is_a: GO:0045321 ! leukocyte activation intersection_of: GO:0045321 ! leukocyte activation intersection_of: BFO:0000050 GO:0006955 ! part of immune response +[Term] +id: GO:0002367 +name: cytokine production involved in immune response +def: "The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "cytokine production during immune response" RELATED [] +is_a: GO:0001816 ! cytokine production +is_a: GO:0002440 ! production of molecular mediator of immune response +intersection_of: GO:0001816 ! cytokine production +intersection_of: BFO:0000050 GO:0006955 ! part of immune response +relationship: BFO:0000050 GO:0006955 ! part of immune response + [Term] id: GO:0002376 name: immune system process def: "Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats." [] is_a: GO:0008150 ! biological_process +[Term] +id: GO:0002377 +name: immunoglobulin production +def: "The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "antibody production" EXACT [] +is_a: GO:0002440 ! production of molecular mediator of immune response + +[Term] +id: GO:0002381 +name: immunoglobulin production involved in immunoglobulin mediated immune response +def: "The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "antibody production during immune response" RELATED [] +synonym: "immunoglobulin production during immune response" RELATED [] +synonym: "immunoglobulin production involved in immune response" RELATED [] +is_a: GO:0002377 ! immunoglobulin production +intersection_of: GO:0002377 ! immunoglobulin production +intersection_of: BFO:0000050 GO:0016064 ! part of immunoglobulin mediated immune response +relationship: BFO:0000050 GO:0016064 ! part of immunoglobulin mediated immune response + [Term] id: GO:0002429 name: immune response-activating cell surface receptor signaling pathway @@ -821,6 +1268,35 @@ def: "An acute inflammatory response to an antigenic stimulus. An acute inflamma is_a: GO:0002437 ! inflammatory response to antigenic stimulus is_a: GO:0002526 ! acute inflammatory response +[Term] +id: GO:0002440 +name: production of molecular mediator of immune response +def: "The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "production of cellular mediator of immune response" RELATED [] +is_a: GO:0002376 ! immune system process + +[Term] +id: GO:0002441 +name: histamine secretion involved in inflammatory response +def: "The regulated release of histamine by a cell as part of an inflammatory response." [] +synonym: "histamine secretion involved in acute inflammatory response" BROAD [] +is_a: GO:0001821 ! histamine secretion +is_a: GO:0046879 ! hormone secretion +intersection_of: GO:0001821 ! histamine secretion +intersection_of: BFO:0000050 GO:0006954 ! part of inflammatory response +relationship: BFO:0000050 GO:0002349 ! part of histamine production involved in inflammatory response + +[Term] +id: GO:0002442 +name: serotonin secretion involved in inflammatory response +def: "The regulated release of serotonin by a cell as part of an inflammatory response." [] +synonym: "serotonin release involved in inflammatory response" RELATED [] +synonym: "serotonin secretion involved in acute inflammatory response" BROAD [] +is_a: GO:0001820 ! serotonin secretion +intersection_of: GO:0001820 ! serotonin secretion +intersection_of: BFO:0000050 GO:0006954 ! part of inflammatory response +relationship: BFO:0000050 GO:0002351 ! part of serotonin production involved in inflammatory response + [Term] id: GO:0002443 name: leukocyte mediated immunity @@ -877,6 +1353,34 @@ name: adaptive immune response based on somatic recombination of immune receptor def: "An immune response mediated by lymphocytes expressing specific receptors for antigen produced through a somatic diversification process that includes somatic recombination of germline gene segments encoding immunoglobulin superfamily domains. Recombined receptors for antigen encoded by immunoglobulin superfamily domains include T cell receptors and immunoglobulins (antibodies) produced by B cells. The first encounter with antigen elicits a primary immune response that is slow and not of great magnitude. T and B cells selected by antigen become activated and undergo clonal expansion. A fraction of antigen-reactive T and B cells become memory cells, whereas others differentiate into effector cells. The memory cells generated during the primary response enable a much faster and stronger secondary immune response upon subsequent exposures to the same antigen (immunological memory). An example of this is the adaptive immune response found in Mus musculus." [] is_a: GO:0002250 ! adaptive immune response +[Term] +id: GO:0002461 +name: tolerance induction dependent upon immune response +def: "Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation." [] +synonym: "immune response-dependent tolerance induction" EXACT [] +is_a: GO:0002460 ! adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains +is_a: GO:0002507 ! tolerance induction + +[Term] +id: GO:0002465 +name: peripheral tolerance induction +def: "Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues." [] +is_a: GO:0002461 ! tolerance induction dependent upon immune response + +[Term] +id: GO:0002504 +name: antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +def: "The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex." [] +synonym: "peptide or polysaccharide antigen processing and presentation of via MHC class II" EXACT [] +is_a: GO:0019882 ! antigen processing and presentation + +[Term] +id: GO:0002507 +name: tolerance induction +def: "A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it." [] +is_a: GO:0002376 ! immune system process +relationship: BFO:0000050 GO:0002520 ! part of immune system development + [Term] id: GO:0002520 name: immune system development @@ -893,6 +1397,36 @@ synonym: "leucocyte differentiation" EXACT [] is_a: GO:0030154 ! cell differentiation relationship: BFO:0000050 GO:0030097 ! part of hemopoiesis +[Term] +id: GO:0002522 +name: leukocyte migration involved in immune response +def: "The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response." [] +synonym: "immune cell migration during immune response" EXACT [] +synonym: "immune cell trafficking during immune response" EXACT [] +synonym: "leucocyte migration during immune response" EXACT [] +synonym: "leucocyte trafficking during immune response" EXACT [] +synonym: "leukocyte trafficking during immune response" EXACT [] +is_a: GO:0002252 ! immune effector process +is_a: GO:0050900 ! leukocyte migration +intersection_of: GO:0050900 ! leukocyte migration +intersection_of: BFO:0000050 GO:0006955 ! part of immune response +relationship: BFO:0000050 GO:0006955 ! part of immune response + +[Term] +id: GO:0002523 +name: leukocyte migration involved in inflammatory response +def: "The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response." [] +synonym: "immune cell migration during inflammatory response" RELATED [] +synonym: "immune cell trafficking during inflammatory response" RELATED [] +synonym: "leucocyte migration during inflammatory response" RELATED [] +synonym: "leucocyte trafficking during inflammatory response" RELATED [] +synonym: "leukocyte migration during inflammatory response" RELATED [] +synonym: "leukocyte trafficking during inflammatory response" RELATED [] +is_a: GO:0050900 ! leukocyte migration +intersection_of: GO:0050900 ! leukocyte migration +intersection_of: BFO:0000050 GO:0006954 ! part of inflammatory response +relationship: BFO:0000050 GO:0006954 ! part of inflammatory response + [Term] id: GO:0002524 name: hypersensitivity @@ -906,6 +1440,304 @@ name: acute inflammatory response def: "Inflammation which comprises a rapid, short-lived, relatively uniform response to acute injury or antigenic challenge and is characterized by accumulations of fluid, plasma proteins, and granulocytic leukocytes. An acute inflammatory response occurs within a matter of minutes or hours, and either resolves within a few days or becomes a chronic inflammatory response." [] is_a: GO:0006954 ! inflammatory response +[Term] +id: GO:0002532 +name: production of molecular mediator involved in inflammatory response +def: "The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "production of cellular mediator of acute inflammation" RELATED [] +synonym: "production of molecular mediator involved in acute inflammatory response" BROAD [] +is_a: GO:0032501 ! multicellular organismal process +relationship: BFO:0000050 GO:0006954 ! part of inflammatory response + +[Term] +id: GO:0002534 +name: cytokine production involved in inflammatory response +def: "The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "cytokine production involved in acute inflammatory response" BROAD [] +is_a: GO:0001816 ! cytokine production +is_a: GO:0002532 ! production of molecular mediator involved in inflammatory response +intersection_of: GO:0001816 ! cytokine production +intersection_of: BFO:0000050 GO:0006954 ! part of inflammatory response + +[Term] +id: GO:0002538 +name: arachidonic acid metabolite production involved in inflammatory response +def: "The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels." [] +synonym: "arachidonic acid metabolite production involved in acute inflammatory response" BROAD [] +synonym: "production of arachidonic acid metabolites involved in acute inflammatory response" BROAD [] +synonym: "production of arachidonic acid metabolites involved in inflammatory response" EXACT [] +is_a: GO:0002532 ! production of molecular mediator involved in inflammatory response + +[Term] +id: GO:0002539 +name: prostaglandin production involved in inflammatory response +def: "The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels." [] +synonym: "prostaglandin production involved in acute inflammatory response" BROAD [] +is_a: GO:0002538 ! arachidonic acid metabolite production involved in inflammatory response + +[Term] +id: GO:0002562 +name: somatic diversification of immune receptors via germline recombination within a single locus +def: "The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus." [] +is_a: GO:0002200 ! somatic diversification of immune receptors +is_a: GO:0016444 ! somatic cell DNA recombination + +[Term] +id: GO:0002573 +name: myeloid leukocyte differentiation +def: "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage." [] +synonym: "myeloid leucocyte differentiation" EXACT [] +is_a: GO:0002521 ! leukocyte differentiation +is_a: GO:0030099 ! myeloid cell differentiation + +[Term] +id: GO:0002574 +name: thrombocyte differentiation +def: "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis." [] +is_a: GO:0030099 ! myeloid cell differentiation + +[Term] +id: GO:0002577 +name: regulation of antigen processing and presentation +def: "Any process that modulates the frequency, rate, or extent of antigen processing and presentation." [] +is_a: GO:0002682 ! regulation of immune system process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0019882 ! regulates antigen processing and presentation +relationship: RO:0002211 GO:0019882 ! regulates antigen processing and presentation + +[Term] +id: GO:0002578 +name: negative regulation of antigen processing and presentation +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation." [] +synonym: "down regulation of antigen processing and presentation" EXACT [] +synonym: "down-regulation of antigen processing and presentation" EXACT [] +synonym: "downregulation of antigen processing and presentation" EXACT [] +synonym: "inhibition of antigen processing and presentation" NARROW [] +is_a: GO:0002577 ! regulation of antigen processing and presentation +is_a: GO:0002683 ! negative regulation of immune system process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0019882 ! negatively regulates antigen processing and presentation +relationship: RO:0002212 GO:0019882 ! negatively regulates antigen processing and presentation + +[Term] +id: GO:0002579 +name: positive regulation of antigen processing and presentation +def: "Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation." [] +synonym: "activation of antigen processing and presentation" NARROW [] +synonym: "stimulation of antigen processing and presentation" NARROW [] +synonym: "up regulation of antigen processing and presentation" EXACT [] +synonym: "up-regulation of antigen processing and presentation" EXACT [] +synonym: "upregulation of antigen processing and presentation" EXACT [] +is_a: GO:0002577 ! regulation of antigen processing and presentation +is_a: GO:0002684 ! positive regulation of immune system process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0019882 ! positively regulates antigen processing and presentation +relationship: RO:0002213 GO:0019882 ! positively regulates antigen processing and presentation + +[Term] +id: GO:0002580 +name: regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +def: "Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II." [] +synonym: "regulation of peptide or polysaccharide antigen processing and presentation via MHC class II" EXACT [] +is_a: GO:0002577 ! regulation of antigen processing and presentation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002504 ! regulates antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +relationship: RO:0002211 GO:0002504 ! regulates antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + +[Term] +id: GO:0002581 +name: negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II." [] +synonym: "down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" EXACT [] +synonym: "down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" EXACT [] +synonym: "downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" EXACT [] +synonym: "inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" NARROW [] +synonym: "negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II" EXACT [] +is_a: GO:0002578 ! negative regulation of antigen processing and presentation +is_a: GO:0002580 ! regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002504 ! negatively regulates antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +relationship: RO:0002212 GO:0002504 ! negatively regulates antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + +[Term] +id: GO:0002582 +name: positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +def: "Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II." [] +synonym: "activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" NARROW [] +synonym: "positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II" EXACT [] +synonym: "stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" NARROW [] +synonym: "up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" EXACT [] +synonym: "up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" EXACT [] +synonym: "upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II" EXACT [] +is_a: GO:0002579 ! positive regulation of antigen processing and presentation +is_a: GO:0002580 ! regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002504 ! positively regulates antigen processing and presentation of peptide or polysaccharide antigen via MHC class II +relationship: RO:0002213 GO:0002504 ! positively regulates antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + +[Term] +id: GO:0002637 +name: regulation of immunoglobulin production +def: "Any process that modulates the frequency, rate, or extent of immunoglobulin production." [] +is_a: GO:0002700 ! regulation of production of molecular mediator of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002377 ! regulates immunoglobulin production +relationship: RO:0002211 GO:0002377 ! regulates immunoglobulin production + +[Term] +id: GO:0002638 +name: negative regulation of immunoglobulin production +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production." [] +synonym: "down regulation of immunoglobulin production" EXACT [] +synonym: "down-regulation of immunoglobulin production" EXACT [] +synonym: "downregulation of immunoglobulin production" EXACT [] +synonym: "inhibition of immunoglobulin production" NARROW [] +is_a: GO:0002637 ! regulation of immunoglobulin production +is_a: GO:0002701 ! negative regulation of production of molecular mediator of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002377 ! negatively regulates immunoglobulin production +relationship: RO:0002212 GO:0002377 ! negatively regulates immunoglobulin production + +[Term] +id: GO:0002639 +name: positive regulation of immunoglobulin production +def: "Any process that activates or increases the frequency, rate, or extent of immunoglobulin production." [] +synonym: "activation of immunoglobulin production" NARROW [] +synonym: "stimulation of immunoglobulin production" NARROW [] +synonym: "up regulation of immunoglobulin production" EXACT [] +synonym: "up-regulation of immunoglobulin production" EXACT [] +synonym: "upregulation of immunoglobulin production" EXACT [] +is_a: GO:0002637 ! regulation of immunoglobulin production +is_a: GO:0002702 ! positive regulation of production of molecular mediator of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002377 ! positively regulates immunoglobulin production +relationship: RO:0002213 GO:0002377 ! positively regulates immunoglobulin production + +[Term] +id: GO:0002643 +name: regulation of tolerance induction +def: "Any process that modulates the frequency, rate, or extent of tolerance induction." [] +is_a: GO:0002682 ! regulation of immune system process +is_a: GO:2000026 ! regulation of multicellular organismal development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002507 ! regulates tolerance induction +relationship: RO:0002211 GO:0002507 ! regulates tolerance induction + +[Term] +id: GO:0002644 +name: negative regulation of tolerance induction +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction." [] +synonym: "down regulation of tolerance induction" EXACT [] +synonym: "down-regulation of tolerance induction" EXACT [] +synonym: "downregulation of tolerance induction" EXACT [] +synonym: "inhibition of tolerance induction" NARROW [] +is_a: GO:0002643 ! regulation of tolerance induction +is_a: GO:0002683 ! negative regulation of immune system process +is_a: GO:0051093 ! negative regulation of developmental process +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002507 ! negatively regulates tolerance induction +relationship: RO:0002212 GO:0002507 ! negatively regulates tolerance induction + +[Term] +id: GO:0002645 +name: positive regulation of tolerance induction +def: "Any process that activates or increases the frequency, rate, or extent of tolerance induction." [] +synonym: "activation of tolerance induction" NARROW [] +synonym: "stimulation of tolerance induction" NARROW [] +synonym: "up regulation of tolerance induction" EXACT [] +synonym: "up-regulation of tolerance induction" EXACT [] +synonym: "upregulation of tolerance induction" EXACT [] +is_a: GO:0002643 ! regulation of tolerance induction +is_a: GO:0002684 ! positive regulation of immune system process +is_a: GO:0051094 ! positive regulation of developmental process +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002507 ! positively regulates tolerance induction +relationship: RO:0002213 GO:0002507 ! positively regulates tolerance induction + +[Term] +id: GO:0002652 +name: regulation of tolerance induction dependent upon immune response +def: "Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response." [] +synonym: "regulation of immune response-dependent tolerance induction" EXACT [] +is_a: GO:0002643 ! regulation of tolerance induction +is_a: GO:0002822 ! regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002461 ! regulates tolerance induction dependent upon immune response +relationship: RO:0002211 GO:0002461 ! regulates tolerance induction dependent upon immune response + +[Term] +id: GO:0002653 +name: negative regulation of tolerance induction dependent upon immune response +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response." [] +synonym: "down regulation of tolerance induction dependent upon immune response" EXACT [] +synonym: "down-regulation of tolerance induction dependent upon immune response" EXACT [] +synonym: "downregulation of tolerance induction dependent upon immune response" EXACT [] +synonym: "inhibition of tolerance induction dependent upon immune response" NARROW [] +synonym: "negative regulation of immune response-dependent tolerance induction" EXACT [] +is_a: GO:0002644 ! negative regulation of tolerance induction +is_a: GO:0002652 ! regulation of tolerance induction dependent upon immune response +is_a: GO:0002823 ! negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002461 ! negatively regulates tolerance induction dependent upon immune response +relationship: RO:0002212 GO:0002461 ! negatively regulates tolerance induction dependent upon immune response + +[Term] +id: GO:0002654 +name: positive regulation of tolerance induction dependent upon immune response +def: "Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response." [] +synonym: "activation of tolerance induction dependent upon immune response" NARROW [] +synonym: "positive regulation of immune response-dependent tolerance induction" EXACT [] +synonym: "stimulation of tolerance induction dependent upon immune response" NARROW [] +synonym: "up regulation of tolerance induction dependent upon immune response" EXACT [] +synonym: "up-regulation of tolerance induction dependent upon immune response" EXACT [] +synonym: "upregulation of tolerance induction dependent upon immune response" EXACT [] +is_a: GO:0002645 ! positive regulation of tolerance induction +is_a: GO:0002652 ! regulation of tolerance induction dependent upon immune response +is_a: GO:0002824 ! positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002461 ! positively regulates tolerance induction dependent upon immune response +relationship: RO:0002213 GO:0002461 ! positively regulates tolerance induction dependent upon immune response + +[Term] +id: GO:0002658 +name: regulation of peripheral tolerance induction +def: "Any process that modulates the frequency, rate, or extent of peripheral tolerance induction." [] +is_a: GO:0002652 ! regulation of tolerance induction dependent upon immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002465 ! regulates peripheral tolerance induction +relationship: RO:0002211 GO:0002465 ! regulates peripheral tolerance induction + +[Term] +id: GO:0002659 +name: negative regulation of peripheral tolerance induction +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction." [] +synonym: "down regulation of peripheral tolerance induction" EXACT [] +synonym: "down-regulation of peripheral tolerance induction" EXACT [] +synonym: "downregulation of peripheral tolerance induction" EXACT [] +synonym: "inhibition of peripheral tolerance induction" NARROW [] +is_a: GO:0002653 ! negative regulation of tolerance induction dependent upon immune response +is_a: GO:0002658 ! regulation of peripheral tolerance induction +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002465 ! negatively regulates peripheral tolerance induction +relationship: RO:0002212 GO:0002465 ! negatively regulates peripheral tolerance induction + +[Term] +id: GO:0002660 +name: positive regulation of peripheral tolerance induction +def: "Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction." [] +synonym: "activation of peripheral tolerance induction" NARROW [] +synonym: "stimulation of peripheral tolerance induction" NARROW [] +synonym: "up regulation of peripheral tolerance induction" EXACT [] +synonym: "up-regulation of peripheral tolerance induction" EXACT [] +synonym: "upregulation of peripheral tolerance induction" EXACT [] +is_a: GO:0002654 ! positive regulation of tolerance induction dependent upon immune response +is_a: GO:0002658 ! regulation of peripheral tolerance induction +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002465 ! positively regulates peripheral tolerance induction +relationship: RO:0002213 GO:0002465 ! positively regulates peripheral tolerance induction + [Term] id: GO:0002673 name: regulation of acute inflammatory response @@ -982,6 +1814,100 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0002376 ! positively regulates immune system process relationship: RO:0002213 GO:0002376 ! positively regulates immune system process +[Term] +id: GO:0002685 +name: regulation of leukocyte migration +def: "Any process that modulates the frequency, rate, or extent of leukocyte migration." [] +synonym: "regulation of immune cell migration" EXACT [] +synonym: "regulation of leucocyte migration" EXACT [] +is_a: GO:0002682 ! regulation of immune system process +is_a: GO:0030334 ! regulation of cell migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0050900 ! regulates leukocyte migration +relationship: RO:0002211 GO:0050900 ! regulates leukocyte migration + +[Term] +id: GO:0002686 +name: negative regulation of leukocyte migration +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration." [] +synonym: "down regulation of leukocyte migration" EXACT [] +synonym: "down-regulation of leukocyte migration" EXACT [] +synonym: "downregulation of leukocyte migration" EXACT [] +synonym: "inhibition of leukocyte migration" NARROW [] +synonym: "negative regulation of immune cell migration" EXACT [] +synonym: "negative regulation of leucocyte migration" EXACT [] +is_a: GO:0002683 ! negative regulation of immune system process +is_a: GO:0002685 ! regulation of leukocyte migration +is_a: GO:0030336 ! negative regulation of cell migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0050900 ! negatively regulates leukocyte migration +relationship: RO:0002212 GO:0050900 ! negatively regulates leukocyte migration + +[Term] +id: GO:0002687 +name: positive regulation of leukocyte migration +def: "Any process that activates or increases the frequency, rate, or extent of leukocyte migration." [] +synonym: "activation of leukocyte migration" NARROW [] +synonym: "positive regulation of immune cell migration" EXACT [] +synonym: "positive regulation of leucocyte migration" EXACT [] +synonym: "stimulation of leukocyte migration" NARROW [] +synonym: "up regulation of leukocyte migration" EXACT [] +synonym: "up-regulation of leukocyte migration" EXACT [] +synonym: "upregulation of leukocyte migration" EXACT [] +is_a: GO:0002684 ! positive regulation of immune system process +is_a: GO:0002685 ! regulation of leukocyte migration +is_a: GO:0030335 ! positive regulation of cell migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0050900 ! positively regulates leukocyte migration +relationship: RO:0002213 GO:0050900 ! positively regulates leukocyte migration + +[Term] +id: GO:0002688 +name: regulation of leukocyte chemotaxis +def: "Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis." [] +synonym: "regulation of immune cell chemotaxis" EXACT [] +synonym: "regulation of leucocyte chemotaxis" EXACT [] +is_a: GO:0002685 ! regulation of leukocyte migration +is_a: GO:0050920 ! regulation of chemotaxis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030595 ! regulates leukocyte chemotaxis +relationship: RO:0002211 GO:0030595 ! regulates leukocyte chemotaxis + +[Term] +id: GO:0002689 +name: negative regulation of leukocyte chemotaxis +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis." [] +synonym: "down regulation of leukocyte chemotaxis" EXACT [] +synonym: "down-regulation of leukocyte chemotaxis" EXACT [] +synonym: "downregulation of leukocyte chemotaxis" EXACT [] +synonym: "inhibition of leukocyte chemotaxis" NARROW [] +synonym: "negative regulation of immune cell chemotaxis" EXACT [] +synonym: "negative regulation of leucocyte chemotaxis" EXACT [] +is_a: GO:0002686 ! negative regulation of leukocyte migration +is_a: GO:0002688 ! regulation of leukocyte chemotaxis +is_a: GO:0050922 ! negative regulation of chemotaxis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030595 ! negatively regulates leukocyte chemotaxis +relationship: RO:0002212 GO:0030595 ! negatively regulates leukocyte chemotaxis + +[Term] +id: GO:0002690 +name: positive regulation of leukocyte chemotaxis +def: "Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis." [] +synonym: "activation of leukocyte chemotaxis" NARROW [] +synonym: "positive regulation of immune cell chemotaxis" EXACT [] +synonym: "positive regulation of leucocyte chemotaxis" EXACT [] +synonym: "stimulation of leukocyte chemotaxis" NARROW [] +synonym: "up regulation of leukocyte chemotaxis" EXACT [] +synonym: "up-regulation of leukocyte chemotaxis" EXACT [] +synonym: "upregulation of leukocyte chemotaxis" EXACT [] +is_a: GO:0002687 ! positive regulation of leukocyte migration +is_a: GO:0002688 ! regulation of leukocyte chemotaxis +is_a: GO:0050921 ! positive regulation of chemotaxis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030595 ! positively regulates leukocyte chemotaxis +relationship: RO:0002213 GO:0030595 ! positively regulates leukocyte chemotaxis + [Term] id: GO:0002694 name: regulation of leukocyte activation @@ -1067,6 +1993,44 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0002252 ! positively regulates immune effector process relationship: RO:0002213 GO:0002252 ! positively regulates immune effector process +[Term] +id: GO:0002700 +name: regulation of production of molecular mediator of immune response +def: "Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response." [] +is_a: GO:0002697 ! regulation of immune effector process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002440 ! regulates production of molecular mediator of immune response +relationship: RO:0002211 GO:0002440 ! regulates production of molecular mediator of immune response + +[Term] +id: GO:0002701 +name: negative regulation of production of molecular mediator of immune response +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response." [] +synonym: "down regulation of production of molecular mediator of immune response" EXACT [] +synonym: "down-regulation of production of molecular mediator of immune response" EXACT [] +synonym: "downregulation of production of molecular mediator of immune response" EXACT [] +synonym: "inhibition of production of molecular mediator of immune response" NARROW [] +is_a: GO:0002698 ! negative regulation of immune effector process +is_a: GO:0002700 ! regulation of production of molecular mediator of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002440 ! negatively regulates production of molecular mediator of immune response +relationship: RO:0002212 GO:0002440 ! negatively regulates production of molecular mediator of immune response + +[Term] +id: GO:0002702 +name: positive regulation of production of molecular mediator of immune response +def: "Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response." [] +synonym: "activation of production of molecular mediator of immune response" NARROW [] +synonym: "stimulation of production of molecular mediator of immune response" NARROW [] +synonym: "up regulation of production of molecular mediator of immune response" EXACT [] +synonym: "up-regulation of production of molecular mediator of immune response" EXACT [] +synonym: "upregulation of production of molecular mediator of immune response" EXACT [] +is_a: GO:0002699 ! positive regulation of immune effector process +is_a: GO:0002700 ! regulation of production of molecular mediator of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002440 ! positively regulates production of molecular mediator of immune response +relationship: RO:0002213 GO:0002440 ! positively regulates production of molecular mediator of immune response + [Term] id: GO:0002703 name: regulation of leukocyte mediated immunity @@ -1249,6 +2213,102 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0019724 ! positively regulates B cell mediated immunity relationship: RO:0002213 GO:0019724 ! positively regulates B cell mediated immunity +[Term] +id: GO:0002715 +name: regulation of natural killer cell mediated immunity +def: "Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity." [] +synonym: "regulation of natural killer cell activity" RELATED [] +synonym: "regulation of NK cell mediated immunity" EXACT [] +is_a: GO:0002706 ! regulation of lymphocyte mediated immunity +is_a: GO:0045088 ! regulation of innate immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002228 ! regulates natural killer cell mediated immunity +relationship: RO:0002211 GO:0002228 ! regulates natural killer cell mediated immunity + +[Term] +id: GO:0002716 +name: negative regulation of natural killer cell mediated immunity +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity." [] +synonym: "down regulation of natural killer cell mediated immunity" EXACT [] +synonym: "down-regulation of natural killer cell mediated immunity" EXACT [] +synonym: "downregulation of natural killer cell mediated immunity" EXACT [] +synonym: "inhibition of natural killer cell mediated immunity" NARROW [] +synonym: "negative regulation of natural killer cell activity" RELATED [] +synonym: "negative regulation of NK cell activity" RELATED [] +synonym: "negative regulation of NK cell mediated immunity" EXACT [] +is_a: GO:0002707 ! negative regulation of lymphocyte mediated immunity +is_a: GO:0002715 ! regulation of natural killer cell mediated immunity +is_a: GO:0045824 ! negative regulation of innate immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002228 ! negatively regulates natural killer cell mediated immunity +relationship: RO:0002212 GO:0002228 ! negatively regulates natural killer cell mediated immunity + +[Term] +id: GO:0002717 +name: positive regulation of natural killer cell mediated immunity +def: "Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity." [] +synonym: "activation of natural killer cell mediated immunity" NARROW [] +synonym: "positive regulation of natural killer cell activity" RELATED [] +synonym: "positive regulation of NK cell activity" RELATED [] +synonym: "positive regulation of NK cell mediated immunity" EXACT [] +synonym: "stimulation of natural killer cell mediated immunity" NARROW [] +synonym: "up regulation of natural killer cell mediated immunity" EXACT [] +synonym: "up-regulation of natural killer cell mediated immunity" EXACT [] +synonym: "upregulation of natural killer cell mediated immunity" EXACT [] +is_a: GO:0002708 ! positive regulation of lymphocyte mediated immunity +is_a: GO:0002715 ! regulation of natural killer cell mediated immunity +is_a: GO:0045089 ! positive regulation of innate immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002228 ! positively regulates natural killer cell mediated immunity +relationship: RO:0002213 GO:0002228 ! positively regulates natural killer cell mediated immunity + +[Term] +id: GO:0002718 +name: regulation of cytokine production involved in immune response +def: "Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response." [] +synonym: "regulation of cytokine production during immune response" RELATED [] +is_a: GO:0001817 ! regulation of cytokine production +is_a: GO:0002700 ! regulation of production of molecular mediator of immune response +is_a: GO:0050776 ! regulation of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002367 ! regulates cytokine production involved in immune response +relationship: RO:0002211 GO:0002367 ! regulates cytokine production involved in immune response + +[Term] +id: GO:0002719 +name: negative regulation of cytokine production involved in immune response +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response." [] +synonym: "down regulation of cytokine production during immune response" RELATED [] +synonym: "down-regulation of cytokine production during immune response" EXACT [] +synonym: "downregulation of cytokine production during immune response" RELATED [] +synonym: "inhibition of cytokine production during immune response" RELATED [] +synonym: "negative regulation of cytokine production during immune response" RELATED [] +is_a: GO:0001818 ! negative regulation of cytokine production +is_a: GO:0002701 ! negative regulation of production of molecular mediator of immune response +is_a: GO:0002718 ! regulation of cytokine production involved in immune response +is_a: GO:0050777 ! negative regulation of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002367 ! negatively regulates cytokine production involved in immune response +relationship: RO:0002212 GO:0002367 ! negatively regulates cytokine production involved in immune response + +[Term] +id: GO:0002720 +name: positive regulation of cytokine production involved in immune response +def: "Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response." [] +synonym: "activation of cytokine production during immune response" NARROW [] +synonym: "positive regulation of cytokine production during immune response" RELATED [] +synonym: "stimulation of cytokine production during immune response" NARROW [] +synonym: "up regulation of cytokine production during immune response" RELATED [] +synonym: "up-regulation of cytokine production during immune response" RELATED [] +synonym: "upregulation of cytokine production during immune response" RELATED [] +is_a: GO:0001819 ! positive regulation of cytokine production +is_a: GO:0002702 ! positive regulation of production of molecular mediator of immune response +is_a: GO:0002718 ! regulation of cytokine production involved in immune response +is_a: GO:0050778 ! positive regulation of immune response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002367 ! positively regulates cytokine production involved in immune response +relationship: RO:0002213 GO:0002367 ! positively regulates cytokine production involved in immune response + [Term] id: GO:0002757 name: immune response-activating signal transduction @@ -1256,6 +2316,77 @@ def: "The cascade of processes by which a signal interacts with a receptor, caus is_a: GO:0002253 ! activation of immune response is_a: GO:0002764 ! immune response-regulating signaling pathway +[Term] +id: GO:0002759 +name: regulation of antimicrobial humoral response +def: "Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response." [] +is_a: GO:0002831 ! regulation of response to biotic stimulus +is_a: GO:0002920 ! regulation of humoral immune response +is_a: GO:0032101 ! regulation of response to external stimulus +is_a: GO:0043900 ! regulation of multi-organism process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0019730 ! regulates antimicrobial humoral response +relationship: RO:0002211 GO:0019730 ! regulates antimicrobial humoral response + +[Term] +id: GO:0002760 +name: positive regulation of antimicrobial humoral response +def: "Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response." [] +synonym: "activation of antimicrobial humoral response" NARROW [] +synonym: "stimulation of antimicrobial humoral response" NARROW [] +synonym: "up regulation of antimicrobial humoral response" EXACT [] +synonym: "up-regulation of antimicrobial humoral response" EXACT [] +synonym: "upregulation of antimicrobial humoral response" EXACT [] +is_a: GO:0002759 ! regulation of antimicrobial humoral response +is_a: GO:0002833 ! positive regulation of response to biotic stimulus +is_a: GO:0002922 ! positive regulation of humoral immune response +is_a: GO:0032103 ! positive regulation of response to external stimulus +is_a: GO:0043902 ! positive regulation of multi-organism process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0019730 ! positively regulates antimicrobial humoral response +relationship: RO:0002213 GO:0019730 ! positively regulates antimicrobial humoral response + +[Term] +id: GO:0002761 +name: regulation of myeloid leukocyte differentiation +def: "Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation." [] +is_a: GO:0045637 ! regulation of myeloid cell differentiation +is_a: GO:1902105 ! regulation of leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002573 ! regulates myeloid leukocyte differentiation +relationship: RO:0002211 GO:0002573 ! regulates myeloid leukocyte differentiation + +[Term] +id: GO:0002762 +name: negative regulation of myeloid leukocyte differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation." [] +synonym: "down regulation of myeloid leukocyte differentiation" EXACT [] +synonym: "down-regulation of myeloid leukocyte differentiation" EXACT [] +synonym: "downregulation of myeloid leukocyte differentiation" EXACT [] +synonym: "inhibition of myeloid leukocyte differentiation" NARROW [] +is_a: GO:0002761 ! regulation of myeloid leukocyte differentiation +is_a: GO:0045638 ! negative regulation of myeloid cell differentiation +is_a: GO:1902106 ! negative regulation of leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002573 ! negatively regulates myeloid leukocyte differentiation +relationship: RO:0002212 GO:0002573 ! negatively regulates myeloid leukocyte differentiation + +[Term] +id: GO:0002763 +name: positive regulation of myeloid leukocyte differentiation +def: "Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation." [] +synonym: "activation of myeloid leukocyte differentiation" NARROW [] +synonym: "stimulation of myeloid leukocyte differentiation" NARROW [] +synonym: "up regulation of myeloid leukocyte differentiation" EXACT [] +synonym: "up-regulation of myeloid leukocyte differentiation" EXACT [] +synonym: "upregulation of myeloid leukocyte differentiation" EXACT [] +is_a: GO:0002761 ! regulation of myeloid leukocyte differentiation +is_a: GO:0045639 ! positive regulation of myeloid cell differentiation +is_a: GO:1902107 ! positive regulation of leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002573 ! positively regulates myeloid leukocyte differentiation +relationship: RO:0002213 GO:0002573 ! positively regulates myeloid leukocyte differentiation + [Term] id: GO:0002764 name: immune response-regulating signaling pathway @@ -1272,6 +2403,45 @@ synonym: "immune response-regulating cell surface receptor signalling pathway" E is_a: GO:0002764 ! immune response-regulating signaling pathway is_a: GO:0007166 ! cell surface receptor signaling pathway +[Term] +id: GO:0002775 +name: antimicrobial peptide production +def: "The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa." [] +is_a: GO:0002440 ! production of molecular mediator of immune response +relationship: BFO:0000050 GO:0061844 ! part of antimicrobial humoral immune response mediated by antimicrobial peptide + +[Term] +id: GO:0002776 +name: antimicrobial peptide secretion +def: "The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa." [] +is_a: GO:0002790 ! peptide secretion +relationship: BFO:0000050 GO:0002775 ! part of antimicrobial peptide production + +[Term] +id: GO:0002784 +name: regulation of antimicrobial peptide production +def: "Any process that modulates the frequency, rate, or extent of antimicrobial peptide production." [] +is_a: GO:0002700 ! regulation of production of molecular mediator of immune response +is_a: GO:0002759 ! regulation of antimicrobial humoral response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002775 ! regulates antimicrobial peptide production +relationship: RO:0002211 GO:0002775 ! regulates antimicrobial peptide production + +[Term] +id: GO:0002785 +name: negative regulation of antimicrobial peptide production +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production." [] +synonym: "down regulation of antimicrobial peptide production" EXACT [] +synonym: "down-regulation of antimicrobial peptide production" EXACT [] +synonym: "downregulation of antimicrobial peptide production" EXACT [] +synonym: "inhibition of antimicrobial peptide production" NARROW [] +is_a: GO:0002701 ! negative regulation of production of molecular mediator of immune response +is_a: GO:0002784 ! regulation of antimicrobial peptide production +is_a: GO:0008348 ! negative regulation of antimicrobial humoral response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002775 ! negatively regulates antimicrobial peptide production +relationship: RO:0002212 GO:0002775 ! negatively regulates antimicrobial peptide production + [Term] id: GO:0002790 name: peptide secretion @@ -1318,6 +2488,47 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0002790 ! positively regulates peptide secretion relationship: RO:0002213 GO:0002790 ! positively regulates peptide secretion +[Term] +id: GO:0002794 +name: regulation of antimicrobial peptide secretion +def: "Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion." [] +is_a: GO:0002784 ! regulation of antimicrobial peptide production +is_a: GO:0002791 ! regulation of peptide secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002776 ! regulates antimicrobial peptide secretion +relationship: RO:0002211 GO:0002776 ! regulates antimicrobial peptide secretion + +[Term] +id: GO:0002795 +name: negative regulation of antimicrobial peptide secretion +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion." [] +synonym: "down regulation of antimicrobial peptide secretion" EXACT [] +synonym: "down-regulation of antimicrobial peptide secretion" EXACT [] +synonym: "downregulation of antimicrobial peptide secretion" EXACT [] +synonym: "inhibition of antimicrobial peptide secretion" NARROW [] +is_a: GO:0002785 ! negative regulation of antimicrobial peptide production +is_a: GO:0002792 ! negative regulation of peptide secretion +is_a: GO:0002794 ! regulation of antimicrobial peptide secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002776 ! negatively regulates antimicrobial peptide secretion +relationship: RO:0002212 GO:0002776 ! negatively regulates antimicrobial peptide secretion + +[Term] +id: GO:0002796 +name: positive regulation of antimicrobial peptide secretion +def: "Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion." [] +synonym: "activation of antimicrobial peptide secretion" NARROW [] +synonym: "stimulation of antimicrobial peptide secretion" NARROW [] +synonym: "up regulation of antimicrobial peptide secretion" EXACT [] +synonym: "up-regulation of antimicrobial peptide secretion" EXACT [] +synonym: "upregulation of antimicrobial peptide secretion" EXACT [] +is_a: GO:0002225 ! positive regulation of antimicrobial peptide production +is_a: GO:0002793 ! positive regulation of peptide secretion +is_a: GO:0002794 ! regulation of antimicrobial peptide secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002776 ! positively regulates antimicrobial peptide secretion +relationship: RO:0002213 GO:0002776 ! positively regulates antimicrobial peptide secretion + [Term] id: GO:0002818 name: intracellular defense response @@ -1478,6 +2689,44 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0042092 ! positively regulates type 2 immune response relationship: RO:0002213 GO:0042092 ! positively regulates type 2 immune response +[Term] +id: GO:0002831 +name: regulation of response to biotic stimulus +def: "Any process that modulates the frequency, rate, or extent of a response to biotic stimulus." [] +is_a: GO:0048583 ! regulation of response to stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0009607 ! regulates response to biotic stimulus +relationship: RO:0002211 GO:0009607 ! regulates response to biotic stimulus + +[Term] +id: GO:0002832 +name: negative regulation of response to biotic stimulus +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus." [] +synonym: "down regulation of response to biotic stimulus" EXACT [] +synonym: "down-regulation of response to biotic stimulus" EXACT [] +synonym: "downregulation of response to biotic stimulus" EXACT [] +synonym: "inhibition of response to biotic stimulus" NARROW [] +is_a: GO:0002831 ! regulation of response to biotic stimulus +is_a: GO:0048585 ! negative regulation of response to stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0009607 ! negatively regulates response to biotic stimulus +relationship: RO:0002212 GO:0009607 ! negatively regulates response to biotic stimulus + +[Term] +id: GO:0002833 +name: positive regulation of response to biotic stimulus +def: "Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus." [] +synonym: "activation of response to biotic stimulus" NARROW [] +synonym: "stimulation of response to biotic stimulus" NARROW [] +synonym: "up regulation of response to biotic stimulus" EXACT [] +synonym: "up-regulation of response to biotic stimulus" EXACT [] +synonym: "upregulation of response to biotic stimulus" EXACT [] +is_a: GO:0002831 ! regulation of response to biotic stimulus +is_a: GO:0048584 ! positive regulation of response to stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0009607 ! positively regulates response to biotic stimulus +relationship: RO:0002213 GO:0009607 ! positively regulates response to biotic stimulus + [Term] id: GO:0002861 name: regulation of inflammatory response to antigenic stimulus @@ -1810,6 +3059,38 @@ def: "A circulatory process that occurs at the level of the vasculature." [] synonym: "vasculature process" EXACT [] is_a: GO:0003013 ! circulatory system process +[Term] +id: GO:0003330 +name: regulation of extracellular matrix constituent secretion +def: "Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells." [] +is_a: GO:1903053 ! regulation of extracellular matrix organization +is_a: GO:1903530 ! regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070278 ! regulates extracellular matrix constituent secretion +relationship: RO:0002211 GO:0070278 ! regulates extracellular matrix constituent secretion + +[Term] +id: GO:0003331 +name: positive regulation of extracellular matrix constituent secretion +def: "Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells." [] +is_a: GO:0003330 ! regulation of extracellular matrix constituent secretion +is_a: GO:1903055 ! positive regulation of extracellular matrix organization +is_a: GO:1903532 ! positive regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070278 ! positively regulates extracellular matrix constituent secretion +relationship: RO:0002213 GO:0070278 ! positively regulates extracellular matrix constituent secretion + +[Term] +id: GO:0003332 +name: negative regulation of extracellular matrix constituent secretion +def: "Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells." [] +is_a: GO:0003330 ! regulation of extracellular matrix constituent secretion +is_a: GO:1903054 ! negative regulation of extracellular matrix organization +is_a: GO:1903531 ! negative regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070278 ! negatively regulates extracellular matrix constituent secretion +relationship: RO:0002212 GO:0070278 ! negatively regulates extracellular matrix constituent secretion + [Term] id: GO:0003411 name: cell motility involved in camera-type eye morphogenesis @@ -1832,6 +3113,16 @@ def: "Interacting selectively and non-covalently with any nucleic acid." [] is_a: GO:0097159 ! organic cyclic compound binding is_a: GO:1901363 ! heterocyclic compound binding +[Term] +id: GO:0003677 +name: DNA binding +def: "Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid)." [] +synonym: "microtubule/chromatin interaction" RELATED [] +synonym: "plasmid binding" NARROW [] +synonym: "structure specific DNA binding" RELATED [] +synonym: "structure-specific DNA binding" RELATED [] +is_a: GO:0003676 ! nucleic acid binding + [Term] id: GO:0003700 name: DNA binding transcription factor activity @@ -1935,6 +3226,14 @@ synonym: "phosphohexokinase activity" BROAD [] is_a: GO:0008443 ! phosphofructokinase activity relationship: BFO:0000050 GO:0061615 ! part of glycolytic process through fructose-6-phosphate +[Term] +id: GO:0003940 +name: L-iduronidase activity +def: "Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate." [] +synonym: "alpha-L-iduronidase activity" EXACT [] +synonym: "glycosaminoglycan alpha-L-iduronohydrolase activity" EXACT [] +is_a: GO:0004553 ! hydrolase activity, hydrolyzing O-glycosyl compounds + [Term] id: GO:0003943 name: N-acetylgalactosamine-4-sulfatase activity @@ -2066,6 +3365,28 @@ synonym: "SMALDO" RELATED [] synonym: "zymohexase activity" EXACT [] is_a: GO:0016832 ! aldehyde-lyase activity +[Term] +id: GO:0004336 +name: galactosylceramidase activity +def: "Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine." [] +synonym: "beta-galactocerebrosidase activity" EXACT [] +synonym: "beta-galactosylceramidase activity" EXACT [] +synonym: "ceramide galactosidase activity" EXACT [] +synonym: "cerebroside beta-galactosidase activity" EXACT [] +synonym: "cerebroside galactosidase activity" EXACT [] +synonym: "D-galactosyl-N-acylsphingosine galactohydrolase activity" EXACT [] +synonym: "galactocerebrosidase activity" EXACT [] +synonym: "galactocerebroside beta-galactosidase activity" EXACT [] +synonym: "galactocerebroside galactosidase activity" EXACT [] +synonym: "galactocerebroside-beta-D-galactosidase activity" EXACT [] +synonym: "galactosylceramidase I" RELATED [] +synonym: "galactosylceramide beta-galactosidase activity" EXACT [] +synonym: "galactosylcerebrosidase activity" EXACT [] +synonym: "galcerase activity" EXACT [] +synonym: "lactosylceramidase activity" EXACT [] +synonym: "lactosylceramidase I" RELATED [] +is_a: GO:0004553 ! hydrolase activity, hydrolyzing O-glycosyl compounds + [Term] id: GO:0004339 name: glucan 1,4-alpha-glucosidase activity @@ -2119,6 +3440,25 @@ synonym: "phosphohexose isomerase activity" BROAD [] synonym: "phosphosaccharomutase activity" BROAD [] is_a: GO:0016861 ! intramolecular oxidoreductase activity, interconverting aldoses and ketoses +[Term] +id: GO:0004348 +name: glucosylceramidase activity +def: "Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine." [] +synonym: "acid beta-glucosidase activity" EXACT [] +synonym: "beta-D-glucocerebrosidase activity" EXACT [] +synonym: "beta-glucocerebrosidase activity" EXACT [] +synonym: "beta-glucosylceramidase activity" EXACT [] +synonym: "ceramide glucosidase activity" EXACT [] +synonym: "D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "GlcCer-beta-glucosidase activity" EXACT [] +synonym: "glucocerebrosidase activity" EXACT [] +synonym: "glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "glucosylcerebrosidase activity" EXACT [] +synonym: "glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "psychosine hydrolase activity" EXACT [] +is_a: GO:0004553 ! hydrolase activity, hydrolyzing O-glycosyl compounds + [Term] id: GO:0004351 name: glutamate decarboxylase activity @@ -2242,6 +3582,47 @@ def: "Catalysis of the hydrolysis of any O-glycosyl bond." [] synonym: "O-glucosyl hydrolase activity" EXACT [] is_a: GO:0016798 ! hydrolase activity, acting on glycosyl bonds +[Term] +id: GO:0004557 +name: alpha-galactosidase activity +def: "Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase." [] +synonym: "alpha-D-galactosidase activity" EXACT [] +synonym: "alpha-D-galactoside galactohydrolase activity" EXACT [] +synonym: "alpha-galactosidase A" RELATED [] +synonym: "alpha-galactoside galactohydrolase activity" EXACT [] +synonym: "melibiase activity" EXACT [] +is_a: GO:0015925 ! galactosidase activity + +[Term] +id: GO:0004561 +name: alpha-N-acetylglucosaminidase activity +def: "Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides." [] +synonym: "alpha-acetylglucosaminidase activity" EXACT [] +synonym: "alpha-D-2-acetamido-2-deoxyglucosidase activity" EXACT [] +synonym: "alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity" EXACT [] +synonym: "N-acetyl-alpha-D-glucosaminidase activity" EXACT [] +synonym: "N-acetyl-alpha-glucosaminidase activity" EXACT [] +synonym: "NAG activity" EXACT [] +is_a: GO:0015929 ! hexosaminidase activity + +[Term] +id: GO:0004563 +name: beta-N-acetylhexosaminidase activity +def: "Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides." [] +synonym: "beta-acetylaminodeoxyhexosidase activity" EXACT [] +synonym: "beta-acetylhexosaminidinase activity" EXACT [] +synonym: "beta-D-hexosaminidase activity" EXACT [] +synonym: "beta-D-N-acetylhexosaminidase activity" EXACT [] +synonym: "beta-hexosaminidase activity" EXACT [] +synonym: "beta-N-acetyl-D-hexosaminidase activity" EXACT [] +synonym: "beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity" EXACT [] +synonym: "hexosaminidase A" RELATED [] +synonym: "N-acetyl-beta-D-hexosaminidase activity" EXACT [] +synonym: "N-acetyl-beta-glucosaminidase activity" EXACT [] +synonym: "N-acetyl-beta-hexosaminidase activity" EXACT [] +synonym: "N-acetylhexosaminidase activity" EXACT [] +is_a: GO:0015929 ! hexosaminidase activity + [Term] id: GO:0004565 name: beta-galactosidase activity @@ -2419,6 +3800,17 @@ synonym: "ribose-phosphate diphosphokinase activity" EXACT [] synonym: "ribose-phosphate pyrophosphokinase activity" EXACT [] is_a: GO:0016778 ! diphosphotransferase activity +[Term] +id: GO:0004758 +name: serine C-palmitoyltransferase activity +def: "Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA." [] +synonym: "3-oxosphinganine synthetase activity" EXACT [] +synonym: "acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "serine palmitoyltransferase" BROAD [] +synonym: "SPT" RELATED [] +is_a: GO:0016454 ! C-palmitoyltransferase activity + [Term] id: GO:0004807 name: triose-phosphate isomerase activity @@ -2444,6 +3836,11 @@ intersection_of: GO:0003674 ! molecular_function intersection_of: BFO:0000050 GO:0007165 ! part of signal transduction relationship: BFO:0000050 GO:0007165 ! part of signal transduction +[Term] +id: GO:0004872 +is_obsolete: true +replaced_by: GO:0038023 + [Term] id: GO:0004875 name: complement receptor activity @@ -2629,6 +4026,25 @@ def: "Enables the facilitated diffusion of a calcium ion (by an energy-independe is_a: GO:0005261 ! cation channel activity is_a: GO:0015085 ! calcium ion transmembrane transporter activity +[Term] +id: GO:0005342 +name: organic acid transmembrane transporter activity +def: "Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage," [] +is_a: GO:0022857 ! transmembrane transporter activity +relationship: BFO:0000050 GO:1903825 ! part of organic acid transmembrane transport + +[Term] +id: GO:0005381 +name: iron ion transmembrane transporter activity +def: "Enables the transfer of iron (Fe) ions from one side of a membrane to the other." [] +synonym: "iron transporter activity" EXACT [] +synonym: "multicopper ferroxidase iron transport mediator activity" RELATED [] +synonym: "transmembrane iron ion permease activity" EXACT [] +synonym: "transmembrane iron permease activity" EXACT [] +synonym: "zinc, iron permease activity" RELATED [] +is_a: GO:0046915 ! transition metal ion transmembrane transporter activity +relationship: BFO:0000050 GO:0034755 ! part of iron ion transmembrane transport + [Term] id: GO:0005488 name: binding @@ -2755,6 +4171,13 @@ def: "A thin layer of dense material found in various animal tissues interposed is_a: GO:0044420 ! extracellular matrix component relationship: BFO:0000050 GO:0005578 ! part of proteinaceous extracellular matrix +[Term] +id: GO:0005615 +name: extracellular space +def: "That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid." [] +synonym: "intercellular space" RELATED [] +is_a: GO:0044421 ! extracellular region part + [Term] id: GO:0005622 name: intracellular @@ -2795,6 +4218,32 @@ synonym: "interphase chromosome" NARROW [] synonym: "prophase chromosome" NARROW [] is_a: GO:0043232 ! intracellular non-membrane-bounded organelle +[Term] +id: GO:0005719 +name: nuclear euchromatin +def: "The dispersed less dense form of chromatin in the interphase nucleus. It exists in at least two forms, a some being in the form of transcriptionally active chromatin which is the least condensed, while the rest is inactive euchromatin which is more condensed than active chromatin but less condensed than heterochromatin." [] +is_a: GO:0000790 ! nuclear chromatin +is_a: GO:0000791 ! euchromatin +intersection_of: GO:0000791 ! euchromatin +intersection_of: BFO:0000050 GO:0000228 ! part of nuclear chromosome + +[Term] +id: GO:0005720 +name: nuclear heterochromatin +def: "A condensed form of chromatin, occurring in the nucleus during interphase, that stains strongly with basophilic dyes. The DNA of heterochromatin is typically replicated at a later stage in the cell-division cycle than euchromatin." [] +is_a: GO:0000790 ! nuclear chromatin +is_a: GO:0000792 ! heterochromatin +intersection_of: GO:0000792 ! heterochromatin +intersection_of: BFO:0000050 GO:0000228 ! part of nuclear chromosome + +[Term] +id: GO:0005730 +name: nucleolus +def: "A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome." [] +is_a: GO:0043232 ! intracellular non-membrane-bounded organelle +is_a: GO:0044428 ! nuclear part +relationship: BFO:0000050 GO:0031981 ! part of nuclear lumen + [Term] id: GO:0005737 name: cytoplasm @@ -2883,12 +4332,29 @@ synonym: "mitochondrial stroma" NARROW [] is_a: GO:0044429 ! mitochondrial part is_a: GO:0070013 ! intracellular organelle lumen +[Term] +id: GO:0005761 +name: mitochondrial ribosome +def: "A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes." [] +synonym: "55S ribosome, mitochondrial" NARROW [] +is_a: GO:0000313 ! organellar ribosome +is_a: GO:0098798 ! mitochondrial protein complex +intersection_of: GO:0005840 ! ribosome +intersection_of: BFO:0000050 GO:0005739 ! part of mitochondrion +relationship: BFO:0000050 GO:0005759 ! part of mitochondrial matrix + [Term] id: GO:0005764 name: lysosome def: "A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions." [] is_a: GO:0000323 ! lytic vacuole +[Term] +id: GO:0005766 +name: primary lysosome +def: "A lysosome before it has fused with a vesicle or vacuole." [] +is_a: GO:0005764 ! lysosome + [Term] id: GO:0005773 name: vacuole @@ -2931,6 +4397,17 @@ name: cytosol def: "The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes." [] is_a: GO:0044444 ! cytoplasmic part +[Term] +id: GO:0005840 +name: ribosome +def: "An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins." [] +synonym: "free ribosome" NARROW [] +synonym: "membrane bound ribosome" NARROW [] +synonym: "ribosomal RNA" RELATED [] +is_a: GO:0043232 ! intracellular non-membrane-bounded organelle +is_a: GO:0044444 ! cytoplasmic part +is_a: GO:1990904 ! ribonucleoprotein complex + [Term] id: GO:0005886 name: plasma membrane @@ -3063,6 +4540,30 @@ is_a: GO:0043170 ! macromolecule metabolic process is_a: GO:1901135 ! carbohydrate derivative metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process +[Term] +id: GO:0006023 +name: aminoglycan biosynthetic process +def: "The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages." [] +synonym: "aminoglycan anabolism" EXACT [] +synonym: "aminoglycan biosynthesis" EXACT [] +synonym: "aminoglycan formation" EXACT [] +synonym: "aminoglycan synthesis" EXACT [] +is_a: GO:0006022 ! aminoglycan metabolic process +is_a: GO:0009059 ! macromolecule biosynthetic process +is_a: GO:1901137 ! carbohydrate derivative biosynthetic process +is_a: GO:1901566 ! organonitrogen compound biosynthetic process + +[Term] +id: GO:0006024 +name: glycosaminoglycan biosynthetic process +def: "The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars." [] +synonym: "glycosaminoglycan anabolism" EXACT [] +synonym: "glycosaminoglycan biosynthesis" EXACT [] +synonym: "glycosaminoglycan formation" EXACT [] +synonym: "glycosaminoglycan synthesis" EXACT [] +is_a: GO:0006023 ! aminoglycan biosynthetic process +is_a: GO:0030203 ! glycosaminoglycan metabolic process + [Term] id: GO:0006066 name: alcohol metabolic process @@ -3350,6 +4851,22 @@ synonym: "NER" EXACT [] synonym: "pyrimidine-dimer repair, DNA damage excision" EXACT [] is_a: GO:0006281 ! DNA repair +[Term] +id: GO:0006310 +name: DNA recombination +def: "Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction." [] +is_a: GO:0006259 ! DNA metabolic process + +[Term] +id: GO:0006323 +name: DNA packaging +def: "Any process in which DNA and associated proteins are formed into a compact, orderly structure." [] +synonym: "DNA condensation" EXACT [] +synonym: "DNA organisation" EXACT [] +synonym: "DNA organization" EXACT [] +is_a: GO:0071103 ! DNA conformation change +relationship: BFO:0000051 GO:0008301 ! has_part DNA binding, bending + [Term] id: GO:0006351 name: transcription, DNA-templated @@ -4128,6 +5645,22 @@ def: "The directed movement of dicarboxylic acids into, out of or within a cell, synonym: "sodium:dicarboxylate transport" RELATED [] is_a: GO:0046942 ! carboxylic acid transport +[Term] +id: GO:0006836 +name: neurotransmitter transport +def: "The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell." [] +synonym: "sodium:neurotransmitter transport" NARROW [] +is_a: GO:0006810 ! transport + +[Term] +id: GO:0006837 +name: serotonin transport +def: "The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems." [] +is_a: GO:0006836 ! neurotransmitter transport +is_a: GO:0015696 ! ammonium transport +is_a: GO:0015844 ! monoamine transport +is_a: GO:0015850 ! organic hydroxy compound transport + [Term] id: GO:0006839 name: mitochondrial transport @@ -4234,6 +5767,15 @@ def: "Any process involved in the maintenance of an internal equilibrium of hydr synonym: "hydrogen ion homeostasis" EXACT [] is_a: GO:0055067 ! monovalent inorganic cation homeostasis +[Term] +id: GO:0006886 +name: intracellular protein transport +def: "The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell." [] +synonym: "copper-induced intracellular protein transport" RELATED [] +is_a: GO:0015031 ! protein transport +is_a: GO:0046907 ! intracellular transport +relationship: BFO:0000050 GO:0034613 ! part of cellular protein localization + [Term] id: GO:0006897 name: endocytosis @@ -4262,6 +5804,14 @@ is_a: GO:0016050 ! vesicle organization is_a: GO:0061024 ! membrane organization relationship: BFO:0000050 GO:0016192 ! part of vesicle-mediated transport +[Term] +id: GO:0006903 +name: vesicle targeting +def: "The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo." [] +is_a: GO:0009987 ! cellular process +relationship: BFO:0000050 GO:0016192 ! part of vesicle-mediated transport +relationship: BFO:0000050 GO:0051650 ! part of establishment of vesicle localization + [Term] id: GO:0006909 name: phagocytosis @@ -4279,6 +5829,42 @@ intersection_of: GO:0099024 ! plasma membrane invagination intersection_of: BFO:0000050 GO:0006909 ! part of phagocytosis relationship: BFO:0000050 GO:0006909 ! part of phagocytosis +[Term] +id: GO:0006915 +name: apoptotic process +def: "A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died." [] +synonym: "activation of apoptosis" NARROW [] +synonym: "apoptosis" NARROW [] +synonym: "apoptosis activator activity" RELATED [] +synonym: "apoptosis signaling" NARROW [] +synonym: "apoptotic cell death" EXACT [] +synonym: "apoptotic program" NARROW [] +synonym: "apoptotic programmed cell death" EXACT [] +synonym: "caspase-dependent programmed cell death" RELATED [] +synonym: "cell suicide" BROAD [] +synonym: "cellular suicide" BROAD [] +synonym: "commitment to apoptosis" RELATED [] +synonym: "induction of apoptosis" RELATED [] +synonym: "induction of apoptosis by p53" RELATED [] +synonym: "programmed cell death by apoptosis" EXACT [] +synonym: "signaling (initiator) caspase activity" RELATED [] +synonym: "type I programmed cell death" NARROW [] +is_a: GO:0012501 ! programmed cell death +relationship: BFO:0000051 GO:0097190 ! has_part apoptotic signaling pathway +relationship: BFO:0000051 GO:0097194 ! has_part execution phase of apoptosis + +[Term] +id: GO:0006921 +name: cellular component disassembly involved in execution phase of apoptosis +def: "The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis." [] +synonym: "cellular component disassembly involved in apoptosis" NARROW [] +synonym: "cellular component disassembly involved in apoptotic process" BROAD [] +synonym: "disassembly of cell structures" BROAD [] +is_a: GO:0022411 ! cellular component disassembly +intersection_of: GO:0022411 ! cellular component disassembly +intersection_of: BFO:0000050 GO:0097194 ! part of execution phase of apoptosis +relationship: BFO:0000050 GO:0097194 ! part of execution phase of apoptosis + [Term] id: GO:0006928 name: movement of cell or subcellular component @@ -4373,6 +5959,17 @@ synonym: "single organism organelle organization" EXACT [] synonym: "single-organism organelle organization" RELATED [] is_a: GO:0016043 ! cellular component organization +[Term] +id: GO:0006997 +name: nucleus organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus." [] +synonym: "nuclear morphology" RELATED [] +synonym: "nuclear organisation" EXACT [] +synonym: "nuclear organization" EXACT [] +synonym: "nuclear organization and biogenesis" RELATED [] +synonym: "nucleus organization and biogenesis" RELATED [] +is_a: GO:0006996 ! organelle organization + [Term] id: GO:0007005 name: mitochondrion organization @@ -4403,6 +6000,29 @@ synonym: "plasma membrane organization and biogenesis" RELATED [] is_a: GO:0061024 ! membrane organization relationship: BFO:0000050 GO:0010256 ! part of endomembrane system organization +[Term] +id: GO:0007010 +name: cytoskeleton organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures." [] +synonym: "cytoskeletal organization and biogenesis" RELATED [] +synonym: "cytoskeletal regulator activity" RELATED [] +synonym: "cytoskeleton organisation" EXACT [] +synonym: "cytoskeleton organization and biogenesis" RELATED [] +is_a: GO:0006996 ! organelle organization + +[Term] +id: GO:0007017 +name: microtubule-based process +def: "Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins." [] +is_a: GO:0009987 ! cellular process + +[Term] +id: GO:0007018 +name: microtubule-based movement +def: "A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules." [] +is_a: GO:0006928 ! movement of cell or subcellular component +is_a: GO:0007017 ! microtubule-based process + [Term] id: GO:0007034 name: vacuolar transport @@ -4425,11 +6045,56 @@ def: "The directed movement of substances into, out of or within a lysosome." [] is_a: GO:0007034 ! vacuolar transport [Term] -id: GO:0007049 -name: cell cycle -def: "The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division." [] -synonym: "cell-division cycle" EXACT [] -is_a: GO:0009987 ! cellular process +id: GO:0007049 +name: cell cycle +def: "The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division." [] +synonym: "cell-division cycle" EXACT [] +is_a: GO:0009987 ! cellular process + +[Term] +id: GO:0007059 +name: chromosome segregation +def: "The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles." [] +synonym: "chromosome division" EXACT [] +synonym: "chromosome transmission" RELATED [] +is_a: GO:0009987 ! cellular process + +[Term] +id: GO:0007076 +name: mitotic chromosome condensation +def: "The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells." [] +is_a: GO:0030261 ! chromosome condensation +is_a: GO:1903047 ! mitotic cell cycle process +intersection_of: GO:0030261 ! chromosome condensation +intersection_of: BFO:0000050 GO:0000278 ! part of mitotic cell cycle +relationship: BFO:0000050 GO:0000070 ! part of mitotic sister chromatid segregation + +[Term] +id: GO:0007088 +name: regulation of mitotic nuclear division +def: "Any process that modulates the frequency, rate or extent of mitosis." [] +synonym: "regulation of mitosis" EXACT [] +is_a: GO:0007346 ! regulation of mitotic cell cycle +is_a: GO:0010564 ! regulation of cell cycle process +is_a: GO:0051783 ! regulation of nuclear division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0140014 ! regulates mitotic nuclear division +relationship: RO:0002211 GO:0140014 ! regulates mitotic nuclear division + +[Term] +id: GO:0007113 +name: endomitotic cell cycle +def: "A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell." [] +synonym: "endomitosis" RELATED [] +is_a: GO:0000278 ! mitotic cell cycle + +[Term] +id: GO:0007135 +name: meiosis II +def: "The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II." [] +synonym: "meiosis II nuclear division" EXACT [] +is_a: GO:0061983 ! meiosis II cell cycle process +is_a: GO:0140013 ! meiotic nuclear division [Term] id: GO:0007140 @@ -4444,6 +6109,17 @@ intersection_of: BFO:0000050 GO:0048232 ! part of male gamete generation intersection_of: BFO:0000050 GO:0051321 ! part of meiotic cell cycle relationship: BFO:0000050 GO:0048232 ! part of male gamete generation +[Term] +id: GO:0007142 +name: male meiosis II +def: "A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline." [] +synonym: "male meiosis II nuclear division" EXACT [] +is_a: GO:0007135 ! meiosis II +is_a: GO:0007140 ! male meiotic nuclear division +intersection_of: GO:0007135 ! meiosis II +intersection_of: BFO:0000050 GO:0048232 ! part of male gamete generation +intersection_of: BFO:0000050 GO:0051321 ! part of meiotic cell cycle + [Term] id: GO:0007154 name: cell communication @@ -4586,6 +6262,17 @@ synonym: "gametogenesis" RELATED [] is_a: GO:0048609 ! multicellular organismal reproductive process relationship: BFO:0000050 GO:0019953 ! part of sexual reproduction +[Term] +id: GO:0007281 +name: germ cell development +def: "The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism." [] +synonym: "germ-cell development" EXACT [] +synonym: "primordial germ cell development" NARROW [] +is_a: GO:0003006 ! developmental process involved in reproduction +is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism +is_a: GO:0048468 ! cell development +relationship: BFO:0000050 GO:0007276 ! part of gamete generation + [Term] id: GO:0007283 name: spermatogenesis @@ -4593,6 +6280,49 @@ def: "The process of formation of spermatozoa, including spermatocytogenesis and synonym: "generation of spermatozoa" EXACT [] is_a: GO:0048232 ! male gamete generation +[Term] +id: GO:0007286 +name: spermatid development +def: "The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure." [] +synonym: "spermatid cell development" EXACT [] +synonym: "spermiogenesis" EXACT [] +is_a: GO:0007281 ! germ cell development +relationship: BFO:0000050 GO:0048515 ! part of spermatid differentiation + +[Term] +id: GO:0007288 +name: sperm axoneme assembly +def: "The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement." [] +is_a: GO:0003006 ! developmental process involved in reproduction +is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism +is_a: GO:0035082 ! axoneme assembly +relationship: BFO:0000050 GO:0007286 ! part of spermatid development +relationship: BFO:0000050 GO:0030317 ! part of flagellated sperm motility + +[Term] +id: GO:0007289 +name: spermatid nucleus differentiation +def: "The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization." [] +synonym: "spermatid nuclear differentiation" EXACT [] +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:0007346 +name: regulation of mitotic cell cycle +def: "Any process that modulates the rate or extent of progress through the mitotic cell cycle." [] +synonym: "mitotic cell cycle modulation" EXACT [] +synonym: "mitotic cell cycle regulation" EXACT [] +synonym: "mitotic cell cycle regulator" RELATED [] +synonym: "modulation of mitotic cell cycle progression" EXACT [] +synonym: "regulation of mitotic cell cycle progression" EXACT [] +synonym: "regulation of progression through mitotic cell cycle" EXACT [] +is_a: GO:0051726 ! regulation of cell cycle +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0000278 ! regulates mitotic cell cycle +relationship: RO:0002211 GO:0000278 ! regulates mitotic cell cycle + [Term] id: GO:0007399 name: nervous system development @@ -4646,6 +6376,13 @@ synonym: "dorsal vessel development" NARROW [] is_a: GO:0048513 ! animal organ development relationship: BFO:0000050 GO:0072359 ! part of circulatory system development +[Term] +id: GO:0007517 +name: muscle organ development +def: "The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work." [] +is_a: GO:0048513 ! animal organ development +is_a: GO:0061061 ! muscle structure development + [Term] id: GO:0007548 name: sex differentiation @@ -4879,6 +6616,17 @@ def: "Catalysis of the transfer of an acetyl group to a nitrogen atom on the acc is_a: GO:0016407 ! acetyltransferase activity is_a: GO:0016410 ! N-acyltransferase activity +[Term] +id: GO:0008104 +name: protein localization +def: "Any process in which a protein is transported to, or maintained in, a specific location." [] +synonym: "asymmetric protein localisation" RELATED [] +synonym: "asymmetric protein localization" RELATED [] +synonym: "establishment and maintenance of asymmetric protein localization" RELATED [] +synonym: "establishment and maintenance of protein localization" RELATED [] +synonym: "protein localisation" EXACT [] +is_a: GO:0033036 ! macromolecule localization + [Term] id: GO:0008144 name: drug binding @@ -4940,6 +6688,14 @@ synonym: "glucocorticosteroid metabolism" EXACT [] is_a: GO:0008202 ! steroid metabolic process is_a: GO:0042445 ! hormone metabolic process +[Term] +id: GO:0008219 +name: cell death +def: "Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538)." [] +synonym: "accidental cell death" RELATED [] +synonym: "necrosis" RELATED [] +is_a: GO:0009987 ! cellular process + [Term] id: GO:0008228 name: opsonization @@ -4974,6 +6730,13 @@ def: "Catalysis of the hydrolysis of a peptide bond not more than three residues synonym: "exoprotease activity" NARROW [] is_a: GO:0070011 ! peptidase activity, acting on L-amino acid peptides +[Term] +id: GO:0008240 +name: tripeptidyl-peptidase activity +def: "Catalysis of the release of an N-terminal tripeptide from a polypeptide." [] +is_a: GO:0008236 ! serine-type peptidase activity +is_a: GO:0008238 ! exopeptidase activity + [Term] id: GO:0008242 name: omega peptidase activity @@ -5022,6 +6785,14 @@ name: lipid binding def: "Interacting selectively and non-covalently with a lipid." [] is_a: GO:0005488 ! binding +[Term] +id: GO:0008301 +name: DNA binding, bending +def: "The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence." [] +synonym: "DNA bending activity" EXACT [] +synonym: "DNA bending involving DNA binding" EXACT [] +is_a: GO:0003677 ! DNA binding + [Term] id: GO:0008324 name: cation transmembrane transporter activity @@ -5030,6 +6801,24 @@ synonym: "transmembrane cation transporter activity" EXACT [] is_a: GO:0015075 ! ion transmembrane transporter activity relationship: BFO:0000050 GO:0098655 ! part of cation transmembrane transport +[Term] +id: GO:0008348 +name: negative regulation of antimicrobial humoral response +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response." [] +synonym: "attenuation of antimicrobial humoral response" EXACT [] +synonym: "down regulation of antimicrobial humoral response" EXACT [] +synonym: "down-regulation of antimicrobial humoral response" EXACT [] +synonym: "downregulation of antimicrobial humoral response" EXACT [] +synonym: "inhibition of antimicrobial humoral response" NARROW [] +is_a: GO:0002759 ! regulation of antimicrobial humoral response +is_a: GO:0002832 ! negative regulation of response to biotic stimulus +is_a: GO:0002921 ! negative regulation of humoral immune response +is_a: GO:0032102 ! negative regulation of response to external stimulus +is_a: GO:0043901 ! negative regulation of multi-organism process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0019730 ! negatively regulates antimicrobial humoral response +relationship: RO:0002212 GO:0019730 ! negatively regulates antimicrobial humoral response + [Term] id: GO:0008366 name: axon ensheathment @@ -5039,6 +6828,13 @@ synonym: "cellular nerve ensheathment" RELATED [] synonym: "nerve ensheathment" RELATED [] is_a: GO:0007272 ! ensheathment of neurons +[Term] +id: GO:0008373 +name: sialyltransferase activity +def: "Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins." [] +is_a: GO:0016757 ! transferase activity, transferring glycosyl groups +relationship: BFO:0000050 GO:0097503 ! part of sialylation + [Term] id: GO:0008374 name: O-acyltransferase activity @@ -5688,6 +7484,17 @@ name: nucleoid def: "The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined." [] is_a: GO:0005575 ! cellular_component +[Term] +id: GO:0009306 +name: protein secretion +def: "The controlled release of proteins from a cell." [] +synonym: "glycoprotein secretion" NARROW [] +synonym: "protein secretion during cell fate commitment" NARROW [] +synonym: "protein secretion resulting in cell fate commitment" NARROW [] +is_a: GO:0002790 ! peptide secretion +is_a: GO:0015031 ! protein transport +is_a: GO:0032940 ! secretion by cell + [Term] id: GO:0009308 name: amine metabolic process @@ -5768,6 +7575,39 @@ synonym: "syngamy" EXACT [] is_a: GO:0022414 ! reproductive process relationship: BFO:0000050 GO:0019953 ! part of sexual reproduction +[Term] +id: GO:0009581 +name: detection of external stimulus +def: "The series of events in which an external stimulus is received by a cell and converted into a molecular signal." [] +synonym: "perception of external stimulus" RELATED [] +is_a: GO:0009605 ! response to external stimulus +is_a: GO:0051606 ! detection of stimulus + +[Term] +id: GO:0009582 +name: detection of abiotic stimulus +def: "The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal." [] +synonym: "perception of abiotic stimulus" RELATED [] +is_a: GO:0009628 ! response to abiotic stimulus +is_a: GO:0051606 ! detection of stimulus + +[Term] +id: GO:0009583 +name: detection of light stimulus +def: "The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal." [] +synonym: "detection of light" EXACT [] +synonym: "perception of light" RELATED [] +is_a: GO:0009416 ! response to light stimulus +is_a: GO:0009581 ! detection of external stimulus +is_a: GO:0009582 ! detection of abiotic stimulus + +[Term] +id: GO:0009584 +name: detection of visible light +def: "The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm." [] +synonym: "perception of visible light" RELATED [] +is_a: GO:0009583 ! detection of light stimulus + [Term] id: GO:0009605 name: response to external stimulus @@ -5775,6 +7615,13 @@ def: "Any process that results in a change in state or activity of a cell or an synonym: "response to environmental stimulus" EXACT [] is_a: GO:0050896 ! response to stimulus +[Term] +id: GO:0009607 +name: response to biotic stimulus +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 biotic stimulus, a stimulus caused or produced by a living organism." [] +synonym: "response to biotic stress" NARROW [] +is_a: GO:0050896 ! response to stimulus + [Term] id: GO:0009611 name: response to wounding @@ -5782,6 +7629,13 @@ def: "Any process that results in a change in state or activity of a cell or an synonym: "physiological response to wounding" EXACT [] is_a: GO:0006950 ! response to stress +[Term] +id: GO:0009617 +name: response to bacterium +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 stimulus from a bacterium." [] +synonym: "response to bacteria" EXACT [] +is_a: GO:0051707 ! response to other organism + [Term] id: GO:0009628 name: response to abiotic stimulus @@ -6091,6 +7945,16 @@ name: response to extracellular stimulus 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 extracellular stimulus." [] is_a: GO:0009605 ! response to external stimulus +[Term] +id: GO:0010032 +name: meiotic chromosome condensation +def: "Compaction of chromatin structure prior to meiosis in eukaryotic cells." [] +synonym: "chromosome condensation involved in meiotic cell cycle" EXACT [] +is_a: GO:0030261 ! chromosome condensation +is_a: GO:0070192 ! chromosome organization involved in meiotic cell cycle +intersection_of: GO:0030261 ! chromosome condensation +intersection_of: BFO:0000050 GO:0051321 ! part of meiotic cell cycle + [Term] id: GO:0010033 name: response to organic substance @@ -6384,6 +8248,18 @@ 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:0010623 +name: programmed cell death involved in cell development +def: "The activation of endogenous cellular processes that result in the death of a cell as part of its development." [] +synonym: "developmental programmed cell death" BROAD [] +synonym: "programmed cell death involved in development" BROAD [] +is_a: GO:0012501 ! programmed cell death +is_a: GO:0048869 ! cellular developmental process +intersection_of: GO:0012501 ! programmed cell death +intersection_of: BFO:0000050 GO:0048468 ! part of cell development +relationship: BFO:0000050 GO:0048468 ! part of cell development + [Term] id: GO:0010628 name: positive regulation of gene expression @@ -6797,6 +8673,35 @@ 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:0010927 +name: cellular component assembly involved in morphogenesis +def: "The cellular component assembly that is part of the initial shaping of the component during its developmental progression." [] +is_a: GO:0022607 ! cellular component assembly +is_a: GO:0048646 ! anatomical structure formation involved in morphogenesis +intersection_of: GO:0022607 ! cellular component assembly +intersection_of: BFO:0000050 GO:0009653 ! part of anatomical structure morphogenesis +relationship: BFO:0000050 GO:0032989 ! part of cellular component morphogenesis + +[Term] +id: GO:0010941 +name: regulation of cell death +def: "Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death." [] +is_a: GO:0050794 ! regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0008219 ! regulates cell death +relationship: RO:0002211 GO:0008219 ! regulates cell death + +[Term] +id: GO:0010942 +name: positive regulation of cell death +def: "Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death." [] +is_a: GO:0010941 ! regulation of cell death +is_a: GO:0048522 ! positive regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0008219 ! positively regulates cell death +relationship: RO:0002213 GO:0008219 ! positively regulates cell death + [Term] id: GO:0010948 name: negative regulation of cell cycle process @@ -6883,6 +8788,30 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0030001 ! regulates metal ion transport relationship: RO:0002211 GO:0030001 ! regulates metal ion transport +[Term] +id: GO:0010970 +name: transport along microtubule +def: "The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity." [] +synonym: "establishment of localization by movement along microtubule" EXACT [] +synonym: "microtubule-based transport" BROAD [] +synonym: "movement along microtubule" EXACT [] +is_a: GO:0030705 ! cytoskeleton-dependent intracellular transport +is_a: GO:0099111 ! microtubule-based transport + +[Term] +id: GO:0012501 +name: programmed cell death +def: "A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell." [] +synonym: "caspase-independent apoptosis" RELATED [] +synonym: "caspase-independent cell death" NARROW [] +synonym: "non-apoptotic programmed cell death" NARROW [] +synonym: "nonapoptotic programmed cell death" NARROW [] +synonym: "PCD" RELATED [] +synonym: "RCD" RELATED [] +synonym: "regulated cell death" BROAD [] +is_a: GO:0008219 ! cell death +relationship: BFO:0000051 GO:0007165 ! has_part signal transduction + [Term] id: GO:0012505 name: endomembrane system @@ -6891,6 +8820,13 @@ is_a: GO:0044464 ! cell part relationship: BFO:0000051 GO:0005773 ! has_part vacuole relationship: BFO:0000051 GO:0005886 ! has_part plasma membrane +[Term] +id: GO:0012506 +name: vesicle membrane +def: "The lipid bilayer surrounding any membrane-bounded vesicle in the cell." [] +is_a: GO:0031090 ! organelle membrane +relationship: BFO:0000050 GO:0031982 ! part of vesicle + [Term] id: GO:0014020 name: primary neural tube formation @@ -6922,6 +8858,71 @@ def: "The process in which a relatively unspecialized cell acquires specialized is_a: GO:0048762 ! mesenchymal cell differentiation is_a: GO:0048863 ! stem cell differentiation +[Term] +id: GO:0014046 +name: dopamine secretion +def: "The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone." [] +is_a: GO:0015872 ! dopamine transport +is_a: GO:0050432 ! catecholamine secretion + +[Term] +id: GO:0014059 +name: regulation of dopamine secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of dopamine." [] +is_a: GO:0043269 ! regulation of ion transport +is_a: GO:0050433 ! regulation of catecholamine secretion +is_a: GO:2001023 ! regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0014046 ! regulates dopamine secretion +relationship: RO:0002211 GO:0014046 ! regulates dopamine secretion + +[Term] +id: GO:0014062 +name: regulation of serotonin secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of serotonin." [] +synonym: "regulation of serotonin release" RELATED [] +is_a: GO:0043269 ! regulation of ion transport +is_a: GO:0051588 ! regulation of neurotransmitter transport +is_a: GO:1903530 ! regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001820 ! regulates serotonin secretion +relationship: RO:0002211 GO:0001820 ! regulates serotonin secretion + +[Term] +id: GO:0014063 +name: negative regulation of serotonin secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin." [] +synonym: "down regulation of serotonin secretion" EXACT [] +synonym: "down-regulation of serotonin secretion" EXACT [] +synonym: "downregulation of serotonin secretion" EXACT [] +synonym: "inhibition of serotonin secretion" NARROW [] +synonym: "positive regulation of serotonin release" RELATED [] +is_a: GO:0014062 ! regulation of serotonin secretion +is_a: GO:0043271 ! negative regulation of ion transport +is_a: GO:0051589 ! negative regulation of neurotransmitter transport +is_a: GO:1903531 ! negative regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001820 ! negatively regulates serotonin secretion +relationship: RO:0002212 GO:0001820 ! negatively regulates serotonin secretion + +[Term] +id: GO:0014064 +name: positive regulation of serotonin secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin." [] +synonym: "activation of serotonin secretion" NARROW [] +synonym: "positive regulation of serotonin release" RELATED [] +synonym: "stimulation of serotonin secretion" NARROW [] +synonym: "up regulation of serotonin secretion" EXACT [] +synonym: "up-regulation of serotonin secretion" EXACT [] +synonym: "upregulation of serotonin secretion" EXACT [] +is_a: GO:0014062 ! regulation of serotonin secretion +is_a: GO:0043270 ! positive regulation of ion transport +is_a: GO:0051590 ! positive regulation of neurotransmitter transport +is_a: GO:1903532 ! positive regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001820 ! positively regulates serotonin secretion +relationship: RO:0002213 GO:0001820 ! positively regulates serotonin secretion + [Term] id: GO:0014070 name: response to organic cyclic compound @@ -6929,6 +8930,20 @@ def: "Any process that results in a change in state or activity of a cell or an synonym: "response to organic cyclic substance" EXACT [] is_a: GO:0010033 ! response to organic substance +[Term] +id: GO:0014706 +name: striated muscle tissue development +def: "The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells." [] +is_a: GO:0060537 ! muscle tissue development + +[Term] +id: GO:0015031 +name: protein transport +def: "The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +synonym: "enzyme transport" NARROW [] +is_a: GO:0015833 ! peptide transport +is_a: GO:0045184 ! establishment of protein localization + [Term] id: GO:0015075 name: ion transmembrane transporter activity @@ -6960,6 +8975,14 @@ synonym: "chloride ion transmembrane transporter activity" EXACT [] is_a: GO:0015103 ! inorganic anion transmembrane transporter activity relationship: BFO:0000050 GO:1902476 ! part of chloride transmembrane transport +[Term] +id: GO:0015136 +name: sialic acid transmembrane transporter activity +def: "Enables the transfer of sialic acid from one side of a membrane to the other." [] +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:0015238 name: drug transmembrane transporter activity @@ -7000,6 +9023,19 @@ synonym: "inorganic solute uptake transmembrane transporter activity" EXACT [] synonym: "inorganic uptake permease activity" EXACT [] is_a: GO:0022857 ! transmembrane transporter activity +[Term] +id: GO:0015669 +name: gas transport +def: "The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0006810 ! transport + +[Term] +id: GO:0015671 +name: oxygen transport +def: "The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0015669 ! gas transport +is_a: GO:0015893 ! drug transport + [Term] id: GO:0015672 name: monovalent inorganic cation transport @@ -7013,6 +9049,14 @@ def: "The directed movement of magnesium (Mg) ions into, out of or within a cell synonym: "magnesium transport" RELATED [] is_a: GO:0070838 ! divalent metal ion transport +[Term] +id: GO:0015696 +name: ammonium transport +def: "The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals." [] +synonym: "ammonia transport" RELATED [] +is_a: GO:0006812 ! cation transport +is_a: GO:0071705 ! nitrogen compound transport + [Term] id: GO:0015698 name: inorganic anion transport @@ -7033,6 +9077,13 @@ def: "The directed movement of bilirubin into, out of or within a cell, or betwe is_a: GO:0006835 ! dicarboxylic acid transport is_a: GO:0071705 ! nitrogen compound transport +[Term] +id: GO:0015739 +name: sialic acid transport +def: "The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0046942 ! carboxylic acid transport +is_a: GO:1901264 ! carbohydrate derivative transport + [Term] id: GO:0015749 name: monosaccharide transmembrane transport @@ -7086,6 +9137,14 @@ def: "The directed movement of an organic hydroxy compound (organic alcohol) int synonym: "organic alcohol transport" EXACT [] is_a: GO:0071702 ! organic substance transport +[Term] +id: GO:0015872 +name: dopamine transport +def: "The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline." [] +is_a: GO:0015696 ! ammonium transport +is_a: GO:0015893 ! drug transport +is_a: GO:0051937 ! catecholamine transport + [Term] id: GO:0015888 name: thiamine transport @@ -7097,6 +9156,17 @@ is_a: GO:0045117 ! azole transport is_a: GO:0051180 ! vitamin transport is_a: GO:0072348 ! sulfur compound transport +[Term] +id: GO:0015889 +name: cobalamin transport +def: "The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +synonym: "vitamin B12 transport" EXACT [] +is_a: GO:0015893 ! drug transport +is_a: GO:0051180 ! vitamin transport +is_a: GO:0051181 ! cofactor transport +is_a: GO:0071702 ! organic substance transport +is_a: GO:0071705 ! nitrogen compound transport + [Term] id: GO:0015893 name: drug transport @@ -7182,6 +9252,19 @@ synonym: "integral to membrane" NARROW [] synonym: "transmembrane" RELATED [] is_a: GO:0031224 ! intrinsic component of membrane +[Term] +id: GO:0016042 +name: lipid catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent." [] +synonym: "lipid breakdown" EXACT [] +synonym: "lipid catabolism" EXACT [] +synonym: "lipid degradation" EXACT [] +synonym: "lipolysis" EXACT [] +synonym: "multicellular organism lipid catabolic process" NARROW [] +synonym: "multicellular organismal lipid catabolic process" NARROW [] +is_a: GO:0006629 ! lipid metabolic process +is_a: GO:1901575 ! organic substance catabolic process + [Term] id: GO:0016043 name: cellular component organization @@ -7340,6 +9423,16 @@ synonym: "vesicle transport" EXACT [] synonym: "vesicular transport" EXACT [] is_a: GO:0006810 ! transport +[Term] +id: GO:0016202 +name: regulation of striated muscle tissue development +def: "Any process that modulates the frequency, rate or extent of striated muscle development." [] +is_a: GO:0048634 ! regulation of muscle organ development +is_a: GO:1901861 ! regulation of muscle tissue development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0014706 ! regulates striated muscle tissue development +relationship: RO:0002211 GO:0014706 ! regulates striated muscle tissue development + [Term] id: GO:0016209 name: antioxidant activity @@ -7395,6 +9488,18 @@ def: "Catalysis of the transfer of an acetyl group to an acceptor molecule." [] synonym: "acetylase activity" EXACT [] is_a: GO:0016747 ! transferase activity, transferring acyl groups other than amino-acyl groups +[Term] +id: GO:0016408 +name: C-acyltransferase activity +def: "Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule." [] +is_a: GO:0016747 ! transferase activity, transferring acyl groups other than amino-acyl groups + +[Term] +id: GO:0016409 +name: palmitoyltransferase activity +def: "Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule." [] +is_a: GO:0016747 ! transferase activity, transferring acyl groups other than amino-acyl groups + [Term] id: GO:0016410 name: N-acyltransferase activity @@ -7414,6 +9519,35 @@ name: CoA carboxylase activity def: "Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate." [] is_a: GO:0016885 ! ligase activity, forming carbon-carbon bonds +[Term] +id: GO:0016444 +name: somatic cell DNA recombination +def: "Recombination occurring within or between DNA molecules in somatic cells." [] +is_a: GO:0006310 ! DNA recombination + +[Term] +id: GO:0016445 +name: somatic diversification of immunoglobulins +def: "The somatic process that results in the generation of sequence diversity of immunoglobulins." [] +synonym: "somatic diversification of antibodies" EXACT [] +is_a: GO:0002200 ! somatic diversification of immune receptors +relationship: BFO:0000050 GO:0002377 ! part of immunoglobulin production + +[Term] +id: GO:0016447 +name: somatic recombination of immunoglobulin gene segments +def: "The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus." [] +synonym: "somatic recombination of antibody gene segments" EXACT [] +is_a: GO:0002562 ! somatic diversification of immune receptors via germline recombination within a single locus +is_a: GO:0016445 ! somatic diversification of immunoglobulins + +[Term] +id: GO:0016454 +name: C-palmitoyltransferase activity +def: "Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule." [] +is_a: GO:0016408 ! C-acyltransferase activity +is_a: GO:0016409 ! palmitoyltransferase activity + [Term] id: GO:0016469 name: proton-transporting two-sector ATPase complex @@ -7580,6 +9714,16 @@ synonym: "aminoacyltransferase activity" EXACT [] is_a: GO:0016746 ! transferase activity, transferring acyl groups is_a: GO:0140096 ! catalytic activity, acting on a protein +[Term] +id: GO:0016757 +name: transferase activity, transferring glycosyl groups +def: "Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor)." [] +synonym: "glycosyltransferase activity" EXACT [] +synonym: "transferase activity, transferring other glycosyl groups" NARROW [] +synonym: "transglycosidase activity" EXACT [] +synonym: "transglycosylase activity" EXACT [] +is_a: GO:0016740 ! transferase activity + [Term] id: GO:0016765 name: transferase activity, transferring alkyl or aryl (other than methyl) groups @@ -7822,6 +9966,13 @@ def: "The chemical reactions and pathways involving a drug, a substance used in synonym: "drug metabolism" EXACT [] is_a: GO:0044237 ! cellular metabolic process +[Term] +id: GO:0017145 +name: stem cell division +def: "The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types." [] +synonym: "stem cell renewal" EXACT [] +is_a: GO:0051301 ! cell division + [Term] id: GO:0017168 name: 5-oxoprolinase (ATP-hydrolyzing) activity @@ -7998,6 +10149,18 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0008152 ! regulates metabolic process relationship: RO:0002211 GO:0008152 ! regulates metabolic process +[Term] +id: GO:0019226 +name: transmission of nerve impulse +def: "The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission." [] +synonym: "conduction of nerve impulse" EXACT [] +synonym: "signal transmission along a neuron" EXACT [] +is_a: GO:0035637 ! multicellular organismal signaling +is_a: GO:0050877 ! nervous system process +relationship: BFO:0000050 GO:0007154 ! part of cell communication +relationship: BFO:0000051 GO:0001508 ! has_part action potential +relationship: BFO:0000051 GO:0007268 ! has_part chemical synaptic transmission + [Term] id: GO:0019229 name: regulation of vasoconstriction @@ -8189,6 +10352,13 @@ intersection_of: GO:0042592 ! homeostatic process intersection_of: BFO:0000066 GO:0005623 ! occurs in cell relationship: BFO:0000066 GO:0005623 ! occurs in cell +[Term] +id: GO:0019730 +name: antimicrobial humoral response +def: "An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus." [] +is_a: GO:0006959 ! humoral immune response +is_a: GO:0051707 ! response to other organism + [Term] id: GO:0019747 name: regulation of isoprenoid metabolic process @@ -8222,6 +10392,20 @@ def: "A protein complex that in its canonical form is composed of two identical synonym: "antibody" NARROW [] is_a: GO:0032991 ! protein-containing complex +[Term] +id: GO:0019815 +name: B cell receptor complex +def: "An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins." [] +synonym: "antibody" RELATED [] +synonym: "B cell receptor accessory molecule complex" RELATED [] +synonym: "B lymphocyte receptor complex" EXACT [] +synonym: "B-cell receptor complex" EXACT [] +synonym: "B-lymphocyte receptor complex" EXACT [] +synonym: "BCR complex" EXACT [] +synonym: "immunoglobulin complex, membrane bound" EXACT [] +is_a: GO:0019814 ! immunoglobulin complex +is_a: GO:0098802 ! plasma membrane receptor complex + [Term] id: GO:0019842 name: vitamin binding @@ -8236,6 +10420,14 @@ is_a: GO:0031090 ! organelle membrane is_a: GO:0044424 ! intracellular part relationship: BFO:0000050 GO:0031967 ! part of organelle envelope +[Term] +id: GO:0019882 +name: antigen processing and presentation +def: "The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex." [] +synonym: "antigen presentation" EXACT [] +synonym: "antigen processing" EXACT [] +is_a: GO:0002376 ! immune system process + [Term] id: GO:0019889 name: pteridine metabolic process @@ -8273,6 +10465,12 @@ synonym: "IL binding" NARROW [] synonym: "interleukin binding" NARROW [] is_a: GO:0005515 ! protein binding +[Term] +id: GO:0021700 +name: developmental maturation +def: "A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state." [] +is_a: GO:0032502 ! developmental process + [Term] id: GO:0021915 name: neural tube development @@ -8282,6 +10480,15 @@ is_a: GO:0060429 ! epithelium development relationship: BFO:0000050 GO:0007399 ! part of nervous system development relationship: BFO:0000050 GO:0043009 ! part of chordate embryonic development +[Term] +id: GO:0022008 +name: neurogenesis +def: "Generation of cells within the nervous system." [] +synonym: "nervous system cell generation" EXACT [] +synonym: "neural cell differentiation" RELATED [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0007399 ! part of nervous system development + [Term] id: GO:0022402 name: cell cycle process @@ -8291,6 +10498,13 @@ intersection_of: GO:0009987 ! cellular process intersection_of: BFO:0000050 GO:0007049 ! part of cell cycle relationship: BFO:0000050 GO:0007049 ! part of cell cycle +[Term] +id: GO:0022406 +name: membrane docking +def: "The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere." [] +synonym: "membrane docking" EXACT [] +is_a: GO:0009987 ! cellular process + [Term] id: GO:0022407 name: regulation of cell-cell adhesion @@ -8336,6 +10550,14 @@ def: "A behavioral process involved in the cycle from wakefulness through an ord is_a: GO:0048512 ! circadian behavior relationship: BFO:0000050 GO:0042745 ! part of circadian sleep/wake cycle +[Term] +id: GO:0022411 +name: cellular component disassembly +def: "A cellular process that results in the breakdown of a cellular component." [] +synonym: "cell structure disassembly" EXACT [] +synonym: "cellular component disassembly at cellular level" EXACT [] +is_a: GO:0016043 ! cellular component organization + [Term] id: GO:0022412 name: cellular process involved in reproduction in multicellular organism @@ -8376,12 +10598,32 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0009653 ! regulates anatomical structure morphogenesis relationship: RO:0002211 GO:0009653 ! regulates anatomical structure morphogenesis +[Term] +id: GO:0022607 +name: cellular component assembly +def: "The aggregation, arrangement and bonding together of a cellular component." [] +synonym: "cell structure assembly" EXACT [] +synonym: "cellular component assembly at cellular level" EXACT [] +is_a: GO:0016043 ! cellular component organization +relationship: BFO:0000050 GO:0044085 ! part of cellular component biogenesis + [Term] id: GO:0022610 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:0022626 +name: cytosolic ribosome +def: "A ribosome located in the cytosol." [] +synonym: "70S ribosome" NARROW [] +synonym: "80S ribosome" NARROW [] +is_a: GO:0005840 ! ribosome +is_a: GO:0044445 ! cytosolic part +intersection_of: GO:0005840 ! ribosome +intersection_of: BFO:0000050 GO:0005829 ! part of cytosol + [Term] id: GO:0022803 name: passive transmembrane transporter activity @@ -8584,6 +10826,24 @@ def: "Any process involved in the maintenance of an internal steady state of cat is_a: GO:0006873 ! cellular ion homeostasis is_a: GO:0055080 ! cation homeostasis +[Term] +id: GO:0030030 +name: cell projection organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon." [] +synonym: "cell projection organisation" EXACT [] +synonym: "cell projection organization and biogenesis" RELATED [] +synonym: "cell surface structure organization and biogenesis" RELATED [] +is_a: GO:0016043 ! cellular component organization + +[Term] +id: GO:0030031 +name: cell projection assembly +def: "Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon." [] +synonym: "cell projection biogenesis" RELATED [] +synonym: "formation of a cell surface projection" EXACT [] +is_a: GO:0022607 ! cellular component assembly +is_a: GO:0030030 ! cell projection organization + [Term] id: GO:0030054 name: cell junction @@ -8606,6 +10866,13 @@ def: "The regulated release of a peptide hormone from a cell." [] is_a: GO:0002790 ! peptide secretion is_a: GO:0046879 ! hormone secretion +[Term] +id: GO:0030073 +name: insulin secretion +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." [] +is_a: GO:0009306 ! protein secretion +is_a: GO:0030072 ! peptide hormone secretion + [Term] id: GO:0030097 name: hemopoiesis @@ -8626,6 +10893,13 @@ synonym: "lymphocytic blood cell differentiation" EXACT [] is_a: GO:0002521 ! leukocyte differentiation is_a: GO:0046649 ! lymphocyte activation +[Term] +id: GO:0030099 +name: myeloid cell differentiation +def: "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages." [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0030097 ! part of hemopoiesis + [Term] id: GO:0030100 name: regulation of endocytosis @@ -8682,6 +10956,24 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0006508 ! regulates proteolysis relationship: RO:0002211 GO:0006508 ! regulates proteolysis +[Term] +id: GO:0030182 +name: neuron differentiation +def: "The process in which a relatively unspecialized cell acquires specialized features of a neuron." [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0048699 ! part of generation of neurons + +[Term] +id: GO:0030183 +name: B cell differentiation +def: "The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity." [] +synonym: "B cell development" RELATED [] +synonym: "B lymphocyte differentiation" EXACT [] +synonym: "B-cell differentiation" EXACT [] +synonym: "B-lymphocyte differentiation" EXACT [] +is_a: GO:0030098 ! lymphocyte differentiation +is_a: GO:0042113 ! B cell activation + [Term] id: GO:0030193 name: regulation of blood coagulation @@ -8727,6 +11019,24 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0007596 ! negatively regulates blood coagulation relationship: RO:0002212 GO:0007596 ! negatively regulates blood coagulation +[Term] +id: GO:0030198 +name: extracellular matrix organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix." [] +synonym: "extracellular matrix organisation" EXACT [] +synonym: "extracellular matrix organization and biogenesis" RELATED [] +is_a: GO:0043062 ! extracellular structure organization + +[Term] +id: GO:0030202 +name: heparin metabolic process +def: "The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues." [] +synonym: "heparan sulfate metabolic process" RELATED [] +synonym: "heparin metabolism" EXACT [] +is_a: GO:0006790 ! sulfur compound metabolic process +is_a: GO:0043436 ! oxoacid metabolic process +is_a: GO:1903510 ! mucopolysaccharide metabolic process + [Term] id: GO:0030203 name: glycosaminoglycan metabolic process @@ -8734,6 +11044,19 @@ def: "The chemical reactions and pathways involving glycosaminoglycans, any one synonym: "glycosaminoglycan metabolism" EXACT [] is_a: GO:0006022 ! aminoglycan metabolic process +[Term] +id: GO:0030210 +name: heparin biosynthetic process +def: "The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues." [] +synonym: "heparan sulfate biosynthetic process" RELATED [] +synonym: "heparin anabolism" EXACT [] +synonym: "heparin biosynthesis" EXACT [] +synonym: "heparin formation" EXACT [] +synonym: "heparin synthesis" EXACT [] +is_a: GO:0006024 ! glycosaminoglycan biosynthetic process +is_a: GO:0030202 ! heparin metabolic process +is_a: GO:0044272 ! sulfur compound biosynthetic process + [Term] id: GO:0030212 name: hyaluronan metabolic process @@ -8743,15 +11066,62 @@ is_a: GO:0019752 ! carboxylic acid metabolic process is_a: GO:1903510 ! mucopolysaccharide metabolic process [Term] -id: GO:0030217 -name: T cell differentiation -def: "The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex." [] -synonym: "T cell development" RELATED [] -synonym: "T lymphocyte differentiation" EXACT [] -synonym: "T-cell differentiation" EXACT [] -synonym: "T-lymphocyte differentiation" EXACT [] -is_a: GO:0030098 ! lymphocyte differentiation -is_a: GO:0042110 ! T cell activation +id: GO:0030217 +name: T cell differentiation +def: "The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex." [] +synonym: "T cell development" RELATED [] +synonym: "T lymphocyte differentiation" EXACT [] +synonym: "T-cell differentiation" EXACT [] +synonym: "T-lymphocyte differentiation" EXACT [] +is_a: GO:0030098 ! lymphocyte differentiation +is_a: GO:0042110 ! T cell activation + +[Term] +id: GO:0030218 +name: erythrocyte differentiation +def: "The process in which a myeloid precursor cell acquires specializes features of an erythrocyte." [] +synonym: "erythrocyte cell differentiation" EXACT [] +synonym: "erythropoiesis" EXACT [] +synonym: "RBC differentiation" EXACT [] +synonym: "red blood cell differentiation" EXACT [] +is_a: GO:0030099 ! myeloid cell differentiation +relationship: BFO:0000050 GO:0034101 ! part of erythrocyte homeostasis + +[Term] +id: GO:0030219 +name: megakaryocyte differentiation +def: "The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte." [] +synonym: "megakaryocyte cell differentiation" EXACT [] +is_a: GO:0030099 ! myeloid cell differentiation + +[Term] +id: GO:0030221 +name: basophil differentiation +def: "The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell." [] +synonym: "basophil cell differentiation" EXACT [] +is_a: GO:0030851 ! granulocyte differentiation + +[Term] +id: GO:0030224 +name: monocyte differentiation +def: "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte." [] +synonym: "monocyte cell differentiation" EXACT [] +is_a: GO:0002573 ! myeloid leukocyte differentiation +is_a: GO:1903131 ! mononuclear cell differentiation + +[Term] +id: GO:0030225 +name: macrophage differentiation +def: "The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage." [] +synonym: "macrophage cell differentiation" EXACT [] +is_a: GO:0002573 ! myeloid leukocyte differentiation + +[Term] +id: GO:0030252 +name: growth hormone secretion +def: "The regulated release of growth hormone from secretory granules into the blood." [] +synonym: "somatotropin secretion" EXACT [] +is_a: GO:0030072 ! peptide hormone secretion [Term] id: GO:0030258 @@ -8759,6 +11129,30 @@ name: lipid modification def: "The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid." [] is_a: GO:0044255 ! cellular lipid metabolic process +[Term] +id: GO:0030261 +name: chromosome condensation +def: "The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells." [] +synonym: "DNA condensation" BROAD [] +synonym: "eukaryotic chromosome condensation" EXACT [] +synonym: "nuclear chromosome condensation" EXACT [] +is_a: GO:0006323 ! DNA packaging + +[Term] +id: GO:0030262 +name: apoptotic nuclear changes +def: "Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis." [] +synonym: "apoptotic nuclear change" NARROW [] +is_a: GO:0006921 ! cellular component disassembly involved in execution phase of apoptosis + +[Term] +id: GO:0030263 +name: apoptotic chromosome condensation +def: "The compaction of chromatin during apoptosis." [] +synonym: "pyknosis" EXACT [] +is_a: GO:0030261 ! chromosome condensation +relationship: BFO:0000050 GO:0030262 ! part of apoptotic nuclear changes + [Term] id: GO:0030278 name: regulation of ossification @@ -8786,6 +11180,13 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0001503 ! negatively regulates ossification relationship: RO:0002212 GO:0001503 ! negatively regulates ossification +[Term] +id: GO:0030316 +name: osteoclast differentiation +def: "The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue." [] +synonym: "osteoclast cell differentiation" EXACT [] +is_a: GO:0002573 ! myeloid leukocyte differentiation + [Term] id: GO:0030317 name: flagellated sperm motility @@ -8909,6 +11310,13 @@ is_a: GO:0098772 ! molecular function regulator relationship: BFO:0000050 GO:0010469 ! part of regulation of signaling receptor activity relationship: RO:0002211 GO:0038023 ! regulates signaling receptor activity +[Term] +id: GO:0030593 +name: neutrophil chemotaxis +def: "The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding." [] +is_a: GO:0071621 ! granulocyte chemotaxis +is_a: GO:1990266 ! neutrophil migration + [Term] id: GO:0030594 name: neurotransmitter receptor activity @@ -8916,6 +11324,15 @@ def: "Combining with a neurotransmitter and transmitting the signal to initiate is_a: GO:0038023 ! signaling receptor activity relationship: BFO:0000051 GO:0042165 ! has_part neurotransmitter binding +[Term] +id: GO:0030595 +name: leukocyte chemotaxis +def: "The movement of a leukocyte in response to an external stimulus." [] +synonym: "immune cell chemotaxis" EXACT [] +synonym: "leucocyte chemotaxis" EXACT [] +is_a: GO:0050900 ! leukocyte migration +is_a: GO:0060326 ! cell chemotaxis + [Term] id: GO:0030656 name: regulation of vitamin metabolic process @@ -8926,6 +11343,29 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0006766 ! regulates vitamin metabolic process relationship: RO:0002211 GO:0006766 ! regulates vitamin metabolic process +[Term] +id: GO:0030659 +name: cytoplasmic vesicle membrane +def: "The lipid bilayer surrounding a cytoplasmic vesicle." [] +is_a: GO:0012506 ! vesicle membrane +is_a: GO:0044433 ! cytoplasmic vesicle part + +[Term] +id: GO:0030667 +name: secretory granule membrane +def: "The lipid bilayer surrounding a secretory granule." [] +synonym: "secretory vesicle membrane" BROAD [] +is_a: GO:0030659 ! cytoplasmic vesicle membrane +is_a: GO:0098588 ! bounding membrane of organelle +is_a: GO:0098805 ! whole membrane +relationship: BFO:0000050 GO:0030141 ! part of secretory granule + +[Term] +id: GO:0030705 +name: cytoskeleton-dependent intracellular transport +def: "The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell." [] +is_a: GO:0046907 ! intracellular transport + [Term] id: GO:0030730 name: sequestering of triglyceride @@ -9059,6 +11499,97 @@ name: autosome def: "Any chromosome other than a sex chromosome." [] is_a: GO:0005694 ! chromosome +[Term] +id: GO:0030851 +name: granulocyte differentiation +def: "The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils." [] +synonym: "granulocyte cell differentiation" EXACT [] +is_a: GO:0002573 ! myeloid leukocyte differentiation + +[Term] +id: GO:0030852 +name: regulation of granulocyte differentiation +def: "Any process that modulates the frequency, rate or extent of granulocyte differentiation." [] +is_a: GO:0002761 ! regulation of myeloid leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030851 ! regulates granulocyte differentiation +relationship: RO:0002211 GO:0030851 ! regulates granulocyte differentiation + +[Term] +id: GO:0030853 +name: negative regulation of granulocyte differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation." [] +synonym: "down regulation of granulocyte differentiation" EXACT [] +synonym: "down-regulation of granulocyte differentiation" EXACT [] +synonym: "downregulation of granulocyte differentiation" EXACT [] +synonym: "inhibition of granulocyte differentiation" NARROW [] +is_a: GO:0002762 ! negative regulation of myeloid leukocyte differentiation +is_a: GO:0030852 ! regulation of granulocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030851 ! negatively regulates granulocyte differentiation +relationship: RO:0002212 GO:0030851 ! negatively regulates granulocyte differentiation + +[Term] +id: GO:0030854 +name: positive regulation of granulocyte differentiation +def: "Any process that activates or increases the frequency, rate or extent of granulocyte differentiation." [] +synonym: "activation of granulocyte differentiation" NARROW [] +synonym: "stimulation of granulocyte differentiation" NARROW [] +synonym: "up regulation of granulocyte differentiation" EXACT [] +synonym: "up-regulation of granulocyte differentiation" EXACT [] +synonym: "upregulation of granulocyte differentiation" EXACT [] +is_a: GO:0002763 ! positive regulation of myeloid leukocyte differentiation +is_a: GO:0030852 ! regulation of granulocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030851 ! positively regulates granulocyte differentiation +relationship: RO:0002213 GO:0030851 ! positively regulates granulocyte differentiation + +[Term] +id: GO:0030855 +name: epithelial cell differentiation +def: "The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium." [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0060429 ! part of epithelium development + +[Term] +id: GO:0030856 +name: regulation of epithelial cell differentiation +def: "Any process that modulates the frequency, rate or extent of epithelial cell differentiation." [] +is_a: GO:0045595 ! regulation of cell differentiation +is_a: GO:2000026 ! regulation of multicellular organismal development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030855 ! regulates epithelial cell differentiation +relationship: RO:0002211 GO:0030855 ! regulates epithelial cell differentiation + +[Term] +id: GO:0030857 +name: negative regulation of epithelial cell differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation." [] +synonym: "down regulation of epithelial cell differentiation" EXACT [] +synonym: "down-regulation of epithelial cell differentiation" EXACT [] +synonym: "downregulation of epithelial cell differentiation" EXACT [] +synonym: "inhibition of epithelial cell differentiation" NARROW [] +is_a: GO:0030856 ! regulation of epithelial cell differentiation +is_a: GO:0045596 ! negative regulation of cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030855 ! negatively regulates epithelial cell differentiation +relationship: RO:0002212 GO:0030855 ! negatively regulates epithelial cell differentiation + +[Term] +id: GO:0030858 +name: positive regulation of epithelial cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation." [] +synonym: "activation of epithelial cell differentiation" NARROW [] +synonym: "stimulation of epithelial cell differentiation" NARROW [] +synonym: "up regulation of epithelial cell differentiation" EXACT [] +synonym: "up-regulation of epithelial cell differentiation" EXACT [] +synonym: "upregulation of epithelial cell differentiation" EXACT [] +is_a: GO:0030856 ! regulation of epithelial cell differentiation +is_a: GO:0045597 ! positive regulation of cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030855 ! positively regulates epithelial cell differentiation +relationship: RO:0002213 GO:0030855 ! positively regulates epithelial cell differentiation + [Term] id: GO:0030879 name: mammary gland development @@ -9066,6 +11597,44 @@ def: "The process whose specific outcome is the progression of the mammary gland synonym: "mammogenesis" NARROW [] is_a: GO:0048732 ! gland development +[Term] +id: GO:0030885 +name: regulation of myeloid dendritic cell activation +def: "Any process that modulates the frequency or rate of myeloid dendritic cell activation." [] +is_a: GO:0002694 ! regulation of leukocyte activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001773 ! regulates myeloid dendritic cell activation +relationship: RO:0002211 GO:0001773 ! regulates myeloid dendritic cell activation + +[Term] +id: GO:0030886 +name: negative regulation of myeloid dendritic cell activation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation." [] +synonym: "down regulation of myeloid dendritic cell activation" EXACT [] +synonym: "down-regulation of myeloid dendritic cell activation" EXACT [] +synonym: "downregulation of myeloid dendritic cell activation" EXACT [] +synonym: "inhibition of myeloid dendritic cell activation" NARROW [] +is_a: GO:0002695 ! negative regulation of leukocyte activation +is_a: GO:0030885 ! regulation of myeloid dendritic cell activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001773 ! negatively regulates myeloid dendritic cell activation +relationship: RO:0002212 GO:0001773 ! negatively regulates myeloid dendritic cell activation + +[Term] +id: GO:0030887 +name: positive regulation of myeloid dendritic cell activation +def: "Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation." [] +synonym: "activation of myeloid dendritic cell activation" NARROW [] +synonym: "stimulation of myeloid dendritic cell activation" NARROW [] +synonym: "up regulation of myeloid dendritic cell activation" EXACT [] +synonym: "up-regulation of myeloid dendritic cell activation" EXACT [] +synonym: "upregulation of myeloid dendritic cell activation" EXACT [] +is_a: GO:0002696 ! positive regulation of leukocyte activation +is_a: GO:0030885 ! regulation of myeloid dendritic cell activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001773 ! positively regulates myeloid dendritic cell activation +relationship: RO:0002213 GO:0001773 ! positively regulates myeloid dendritic cell activation + [Term] id: GO:0030901 name: midbrain development @@ -9155,6 +11724,14 @@ is_a: GO:0044459 ! plasma membrane part intersection_of: GO:0031224 ! intrinsic component of membrane intersection_of: BFO:0000050 GO:0005886 ! part of plasma membrane +[Term] +id: GO:0031268 +name: pseudopodium organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement." [] +synonym: "pseudopodium organisation" EXACT [] +synonym: "pseudopodium organization and biogenesis" RELATED [] +is_a: GO:0120036 ! plasma membrane bounded cell projection organization + [Term] id: GO:0031300 name: intrinsic component of organelle membrane @@ -9387,6 +11964,88 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0000096 ! positively regulates sulfur amino acid metabolic process relationship: RO:0002213 GO:0000096 ! positively regulates sulfur amino acid metabolic process +[Term] +id: GO:0031341 +name: regulation of cell killing +def: "Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism." [] +is_a: GO:0050789 ! regulation of biological process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001906 ! regulates cell killing +relationship: RO:0002211 GO:0001906 ! regulates cell killing + +[Term] +id: GO:0031342 +name: negative regulation of cell killing +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing." [] +synonym: "down regulation of cell killing" EXACT [] +synonym: "down-regulation of cell killing" EXACT [] +synonym: "downregulation of cell killing" EXACT [] +synonym: "inhibition of cell killing" NARROW [] +is_a: GO:0031341 ! regulation of cell killing +is_a: GO:0048519 ! negative regulation of biological process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001906 ! negatively regulates cell killing +relationship: RO:0002212 GO:0001906 ! negatively regulates cell killing + +[Term] +id: GO:0031343 +name: positive regulation of cell killing +def: "Any process that activates or increases the frequency, rate or extent of cell killing." [] +synonym: "activation of cell killing" NARROW [] +synonym: "stimulation of cell killing" NARROW [] +synonym: "up regulation of cell killing" EXACT [] +synonym: "up-regulation of cell killing" EXACT [] +synonym: "upregulation of cell killing" EXACT [] +is_a: GO:0031341 ! regulation of cell killing +is_a: GO:0048518 ! positive regulation of biological process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001906 ! positively regulates cell killing +relationship: RO:0002213 GO:0001906 ! positively regulates cell killing + +[Term] +id: GO:0031344 +name: regulation of cell projection organization +def: "Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections." [] +synonym: "regulation of cell projection organisation" EXACT [] +synonym: "regulation of cell projection organization and biogenesis" RELATED [] +is_a: GO:0051128 ! regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030030 ! regulates cell projection organization +relationship: RO:0002211 GO:0030030 ! regulates cell projection organization + +[Term] +id: GO:0031345 +name: negative regulation of cell projection organization +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections." [] +synonym: "down regulation of cell projection organization" EXACT [] +synonym: "down-regulation of cell projection organization" EXACT [] +synonym: "downregulation of cell projection organization" EXACT [] +synonym: "inhibition of cell projection organization" NARROW [] +synonym: "negative regulation of cell projection organisation" EXACT [] +synonym: "negative regulation of cell projection organization and biogenesis" RELATED [] +is_a: GO:0031344 ! regulation of cell projection organization +is_a: GO:0051129 ! negative regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030030 ! negatively regulates cell projection organization +relationship: RO:0002212 GO:0030030 ! negatively regulates cell projection organization + +[Term] +id: GO:0031346 +name: positive regulation of cell projection organization +def: "Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections." [] +synonym: "activation of cell projection organization" NARROW [] +synonym: "positive regulation of cell projection organisation" EXACT [] +synonym: "positive regulation of cell projection organization and biogenesis" RELATED [] +synonym: "stimulation of cell projection organization" NARROW [] +synonym: "up regulation of cell projection organization" EXACT [] +synonym: "up-regulation of cell projection organization" EXACT [] +synonym: "upregulation of cell projection organization" EXACT [] +is_a: GO:0031344 ! regulation of cell projection organization +is_a: GO:0051130 ! positive regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030030 ! positively regulates cell projection organization +relationship: RO:0002213 GO:0030030 ! positively regulates cell projection organization + [Term] id: GO:0031347 name: regulation of defense response @@ -9482,6 +12141,15 @@ is_a: GO:0097708 ! intracellular vesicle intersection_of: GO:0031982 ! vesicle intersection_of: BFO:0000050 GO:0005737 ! part of cytoplasm +[Term] +id: GO:0031503 +name: protein-containing complex localization +def: "A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location." [] +synonym: "establishment and maintenance of protein complex localization" EXACT [] +synonym: "protein complex localisation" EXACT [] +synonym: "protein complex localization" RELATED [] +is_a: GO:0051179 ! localization + [Term] id: GO:0031594 name: neuromuscular junction @@ -9738,6 +12406,22 @@ synonym: "membrane-bounded vesicle" RELATED [] synonym: "membrane-enclosed vesicle" RELATED [] is_a: GO:0043227 ! membrane-bounded organelle +[Term] +id: GO:0032024 +name: positive regulation of insulin secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of insulin." [] +synonym: "activation of insulin secretion" NARROW [] +synonym: "stimulation of insulin secretion" NARROW [] +synonym: "up regulation of insulin secretion" EXACT [] +synonym: "up-regulation of insulin secretion" EXACT [] +synonym: "upregulation of insulin secretion" EXACT [] +is_a: GO:0050714 ! positive regulation of protein secretion +is_a: GO:0050796 ! regulation of insulin secretion +is_a: GO:0090277 ! positive regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030073 ! positively regulates insulin secretion +relationship: RO:0002213 GO:0030073 ! positively regulates insulin secretion + [Term] id: GO:0032042 name: mitochondrial DNA metabolic process @@ -9751,6 +12435,17 @@ intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion relationship: BFO:0000050 GO:0000002 ! part of mitochondrial genome maintenance relationship: BFO:0000066 GO:0005739 ! occurs in mitochondrion +[Term] +id: GO:0032060 +name: bleb assembly +def: "The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses." [] +synonym: "blebbing" BROAD [] +synonym: "cell blebbing" EXACT [] +synonym: "membrane blebbing" BROAD [] +synonym: "plasma membrane bleb assembly" EXACT [] +synonym: "plasma membrane blebbing" EXACT [] +is_a: GO:0120031 ! plasma membrane bounded cell projection assembly + [Term] id: GO:0032091 name: negative regulation of protein binding @@ -10224,6 +12919,69 @@ is_a: GO:0098573 ! intrinsic component of mitochondrial membrane intersection_of: GO:0016021 ! integral component of membrane intersection_of: BFO:0000050 GO:0031966 ! part of mitochondrial membrane +[Term] +id: GO:0032594 +name: protein transport within lipid bilayer +def: "The directed movement of a protein from one location to another within a lipid bilayer." [] +synonym: "protein translocation within membrane" EXACT [] +synonym: "receptor translocation within membrane" NARROW [] +synonym: "receptor transport within lipid bilayer" NARROW [] +is_a: GO:0006886 ! intracellular protein transport +is_a: GO:0051668 ! localization within membrane +is_a: GO:0061024 ! membrane organization +intersection_of: GO:0015031 ! protein transport +intersection_of: BFO:0000066 GO:0016020 ! occurs in membrane + +[Term] +id: GO:0032609 +name: interferon-gamma production +def: "The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon." [] +synonym: "IFNG production" EXACT [] +synonym: "type II IFN production" BROAD [] +synonym: "type II interferon production" BROAD [] +is_a: GO:0001816 ! cytokine production + +[Term] +id: GO:0032649 +name: regulation of interferon-gamma production +def: "Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon." [] +synonym: "regulation of type II interferon production" BROAD [] +is_a: GO:0001817 ! regulation of cytokine production +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032609 ! regulates interferon-gamma production +relationship: RO:0002211 GO:0032609 ! regulates interferon-gamma production + +[Term] +id: GO:0032689 +name: negative regulation of interferon-gamma production +def: "Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon." [] +synonym: "down regulation of interferon-gamma production" EXACT [] +synonym: "down-regulation of interferon-gamma production" EXACT [] +synonym: "downregulation of interferon-gamma production" EXACT [] +synonym: "inhibition of interferon-gamma production" NARROW [] +synonym: "negative regulation of type II interferon production" BROAD [] +is_a: GO:0001818 ! negative regulation of cytokine production +is_a: GO:0032649 ! regulation of interferon-gamma production +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032609 ! negatively regulates interferon-gamma production +relationship: RO:0002212 GO:0032609 ! negatively regulates interferon-gamma production + +[Term] +id: GO:0032729 +name: positive regulation of interferon-gamma production +def: "Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon." [] +synonym: "activation of interferon-gamma production" NARROW [] +synonym: "positive regulation of type II interferon production" BROAD [] +synonym: "stimulation of interferon-gamma production" NARROW [] +synonym: "up regulation of interferon-gamma production" EXACT [] +synonym: "up-regulation of interferon-gamma production" EXACT [] +synonym: "upregulation of interferon-gamma production" EXACT [] +is_a: GO:0001819 ! positive regulation of cytokine production +is_a: GO:0032649 ! regulation of interferon-gamma production +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032609 ! positively regulates interferon-gamma production +relationship: RO:0002213 GO:0032609 ! positively regulates interferon-gamma production + [Term] id: GO:0032768 name: regulation of monooxygenase activity @@ -10309,6 +13067,16 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0051179 ! regulates localization relationship: RO:0002211 GO:0051179 ! regulates localization +[Term] +id: GO:0032880 +name: regulation of protein localization +def: "Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location." [] +synonym: "regulation of protein localisation" EXACT [] +is_a: GO:0032879 ! regulation of localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0008104 ! regulates protein localization +relationship: RO:0002211 GO:0008104 ! regulates protein localization + [Term] id: GO:0032881 name: regulation of polysaccharide metabolic process @@ -10319,6 +13087,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0005976 ! regulates polysaccharide metabolic process relationship: RO:0002211 GO:0005976 ! regulates polysaccharide metabolic process +[Term] +id: GO:0032886 +name: regulation of microtubule-based process +def: "Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton." [] +is_a: GO:0050794 ! regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0007017 ! regulates microtubule-based process +relationship: RO:0002211 GO:0007017 ! regulates microtubule-based process + [Term] id: GO:0032890 name: regulation of organic acid transport @@ -10374,6 +13151,15 @@ synonym: "tissue secretion" EXACT [] is_a: GO:0032501 ! multicellular organismal process is_a: GO:0046903 ! secretion +[Term] +id: GO:0032989 +name: cellular component morphogenesis +def: "The process in which cellular structures, including whole cells or cell parts, are generated and organized." [] +synonym: "cellular structure morphogenesis" EXACT [] +is_a: GO:0009653 ! anatomical structure morphogenesis +is_a: GO:0016043 ! cellular component organization +is_a: GO:0048869 ! cellular developmental process + [Term] id: GO:0032991 name: protein-containing complex @@ -10385,6 +13171,24 @@ synonym: "protein containing complex" EXACT [] synonym: "protein-protein complex" NARROW [] is_a: GO:0005575 ! cellular_component +[Term] +id: GO:0032997 +name: Fc receptor complex +def: "A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin." [] +synonym: "Fc-receptor complex" EXACT [] +synonym: "FcR complex" EXACT [] +synonym: "immunoglobulin receptor complex" BROAD [] +is_a: GO:0098797 ! plasma membrane protein complex + +[Term] +id: GO:0033001 +name: Fc-gamma receptor III complex +def: "A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG." [] +synonym: "FcgRIII complex" EXACT [] +synonym: "IgG receptor complex" BROAD [] +synonym: "immunoglobulin G receptor complex" BROAD [] +is_a: GO:0032997 ! Fc receptor complex + [Term] id: GO:0033003 name: regulation of mast cell activation @@ -10479,6 +13283,61 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0006996 ! regulates organelle organization relationship: RO:0002211 GO:0006996 ! regulates organelle organization +[Term] +id: GO:0033044 +name: regulation of chromosome organization +def: "Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome." [] +synonym: "regulation of chromosome organisation" EXACT [] +synonym: "regulation of chromosome organization and biogenesis" RELATED [] +is_a: GO:0033043 ! regulation of organelle organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0051276 ! regulates chromosome organization +relationship: RO:0002211 GO:0051276 ! regulates chromosome organization + +[Term] +id: GO:0033045 +name: regulation of sister chromatid segregation +def: "Any process that modulates the frequency, rate or extent of sister chromatid segregation." [] +is_a: GO:0010564 ! regulation of cell cycle process +is_a: GO:0033044 ! regulation of chromosome organization +is_a: GO:0051983 ! regulation of chromosome segregation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0000819 ! regulates sister chromatid segregation +relationship: RO:0002211 GO:0000819 ! regulates sister chromatid segregation + +[Term] +id: GO:0033046 +name: negative regulation of sister chromatid segregation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation." [] +is_a: GO:0010948 ! negative regulation of cell cycle process +is_a: GO:0033045 ! regulation of sister chromatid segregation +is_a: GO:0051985 ! negative regulation of chromosome segregation +is_a: GO:2001251 ! negative regulation of chromosome organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0000819 ! negatively regulates sister chromatid segregation +relationship: RO:0002212 GO:0000819 ! negatively regulates sister chromatid segregation + +[Term] +id: GO:0033047 +name: regulation of mitotic sister chromatid segregation +def: "Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis." [] +is_a: GO:0007088 ! regulation of mitotic nuclear division +is_a: GO:0033045 ! regulation of sister chromatid segregation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0000070 ! regulates mitotic sister chromatid segregation +relationship: RO:0002211 GO:0000070 ! regulates mitotic sister chromatid segregation + +[Term] +id: GO:0033048 +name: negative regulation of mitotic sister chromatid segregation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis." [] +is_a: GO:0033046 ! negative regulation of sister chromatid segregation +is_a: GO:0033047 ! regulation of mitotic sister chromatid segregation +is_a: GO:0045839 ! negative regulation of mitotic nuclear division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0000070 ! negatively regulates mitotic sister chromatid segregation +relationship: RO:0002212 GO:0000070 ! negatively regulates mitotic sister chromatid segregation + [Term] id: GO:0033077 name: T cell differentiation in thymus @@ -10587,6 +13446,40 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0030518 ! positively regulates intracellular steroid hormone receptor signaling pathway relationship: RO:0002213 GO:0030518 ! positively regulates intracellular steroid hormone receptor signaling pathway +[Term] +id: GO:0033151 +name: V(D)J recombination +def: "The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS)." [] +synonym: "V(D)J joining" EXACT [] +synonym: "V-D-J joining" EXACT [] +synonym: "V-D-J recombination" EXACT [] +synonym: "V-J joining" EXACT [] +synonym: "V-J recombination" EXACT [] +is_a: GO:0002562 ! somatic diversification of immune receptors via germline recombination within a single locus + +[Term] +id: GO:0033152 +name: immunoglobulin V(D)J recombination +def: "The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined." [] +synonym: "immunoglobulin V(D)J joining" EXACT [] +synonym: "immunoglobulin V-D-J joining" NARROW [] +synonym: "immunoglobulin V-D-J recombination" NARROW [] +synonym: "immunoglobulin V-J joining" NARROW [] +synonym: "immunoglobulin V-J recombination" NARROW [] +is_a: GO:0016447 ! somatic recombination of immunoglobulin gene segments +is_a: GO:0033151 ! V(D)J recombination + +[Term] +id: GO:0033157 +name: regulation of intracellular protein transport +def: "Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells." [] +is_a: GO:0032386 ! regulation of intracellular transport +is_a: GO:0051223 ! regulation of protein transport +is_a: GO:1903827 ! regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006886 ! regulates intracellular protein transport +relationship: RO:0002211 GO:0006886 ! regulates intracellular protein transport + [Term] id: GO:0033238 name: regulation of cellular amine metabolic process @@ -10688,6 +13581,23 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0005518 ! positively regulates collagen binding relationship: RO:0002213 GO:0005518 ! positively regulates collagen binding +[Term] +id: GO:0033363 +name: secretory granule organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion." [] +synonym: "secretory granule organisation" EXACT [] +synonym: "secretory granule organization and biogenesis" RELATED [] +is_a: GO:0016050 ! vesicle organization +relationship: BFO:0000050 GO:0010256 ! part of endomembrane system organization + +[Term] +id: GO:0033365 +name: protein localization to organelle +def: "A process in which a protein is transported to, or maintained in, a location within an organelle." [] +synonym: "protein localisation to organelle" EXACT [] +synonym: "protein localization in organelle" EXACT [] +is_a: GO:0034613 ! cellular protein localization + [Term] id: GO:0033554 name: cellular response to stress @@ -10716,6 +13626,39 @@ intersection_of: GO:0006486 ! protein glycosylation intersection_of: BFO:0000066 GO:0005794 ! occurs in Golgi apparatus relationship: BFO:0000066 GO:0005794 ! occurs in Golgi apparatus +[Term] +id: GO:0033602 +name: negative regulation of dopamine secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine." [] +synonym: "down regulation of dopamine secretion" EXACT [] +synonym: "down-regulation of dopamine secretion" EXACT [] +synonym: "downregulation of dopamine secretion" EXACT [] +synonym: "inhibition of dopamine secretion" NARROW [] +is_a: GO:0014059 ! regulation of dopamine secretion +is_a: GO:0033604 ! negative regulation of catecholamine secretion +is_a: GO:0043271 ! negative regulation of ion transport +is_a: GO:2001024 ! negative regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0014046 ! negatively regulates dopamine secretion +relationship: RO:0002212 GO:0014046 ! negatively regulates dopamine secretion + +[Term] +id: GO:0033603 +name: positive regulation of dopamine secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine." [] +synonym: "activation of dopamine secretion" NARROW [] +synonym: "stimulation of dopamine secretion" NARROW [] +synonym: "up regulation of dopamine secretion" EXACT [] +synonym: "up-regulation of dopamine secretion" EXACT [] +synonym: "upregulation of dopamine secretion" EXACT [] +is_a: GO:0014059 ! regulation of dopamine secretion +is_a: GO:0033605 ! positive regulation of catecholamine secretion +is_a: GO:0043270 ! positive regulation of ion transport +is_a: GO:2001025 ! positive regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0014046 ! positively regulates dopamine secretion +relationship: RO:0002213 GO:0014046 ! positively regulates dopamine secretion + [Term] id: GO:0033604 name: negative regulation of catecholamine secretion @@ -10940,6 +13883,15 @@ def: "The removal of one or more electrons from a lipid, with or without the con is_a: GO:0030258 ! lipid modification is_a: GO:0055114 ! oxidation-reduction process +[Term] +id: GO:0034613 +name: cellular protein localization +def: "Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." [] +synonym: "cellular protein localisation" EXACT [] +synonym: "channel localizer activity" NARROW [] +is_a: GO:0008104 ! protein localization +is_a: GO:0070727 ! cellular macromolecule localization + [Term] id: GO:0034641 name: cellular nitrogen compound metabolic process @@ -11023,6 +13975,21 @@ is_a: GO:0044270 ! cellular nitrogen compound catabolic process is_a: GO:0046700 ! heterocycle catabolic process is_a: GO:1901361 ! organic cyclic compound catabolic process +[Term] +id: GO:0034755 +name: iron ion transmembrane transport +def: "A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore." [] +synonym: "high affinity iron ion transport" NARROW [] +synonym: "high-affinity iron ion transmembrane transport" NARROW [] +synonym: "high-affinity iron ion transport" NARROW [] +synonym: "iron ion membrane transport" EXACT [] +synonym: "low affinity iron ion transport" NARROW [] +synonym: "low-affinity iron ion transmembrane transport" NARROW [] +synonym: "low-affinity iron ion transport" NARROW [] +synonym: "transmembrane iron transport" EXACT [] +is_a: GO:0006826 ! iron ion transport +is_a: GO:0098662 ! inorganic cation transmembrane transport + [Term] id: GO:0034756 name: regulation of iron ion transport @@ -11065,6 +14032,57 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006826 ! positively regulates iron ion transport relationship: RO:0002213 GO:0006826 ! positively regulates iron ion transport +[Term] +id: GO:0034759 +name: regulation of iron ion transmembrane transport +def: "Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore." [] +synonym: "regulation of iron ion membrane transport" EXACT [] +synonym: "regulation of transmembrane Fe transport" EXACT [] +synonym: "regulation of transmembrane iron ion transport" EXACT [] +synonym: "regulation of transmembrane iron transport" EXACT [] +is_a: GO:0034756 ! regulation of iron ion transport +is_a: GO:1904062 ! regulation of cation transmembrane transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0034755 ! regulates iron ion transmembrane transport +relationship: RO:0002211 GO:0034755 ! regulates iron ion transmembrane transport + +[Term] +id: GO:0034760 +name: negative regulation of iron ion transmembrane transport +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore." [] +synonym: "down regulation of transmembrane iron ion transport" EXACT [] +synonym: "down-regulation of transmembrane iron ion transport" EXACT [] +synonym: "downregulation of transmembrane iron ion transport" EXACT [] +synonym: "inhibition of transmembrane iron ion transport" NARROW [] +synonym: "negative regulation of iron ion membrane transport" EXACT [] +synonym: "negative regulation of transmembrane iron ion transport" EXACT [] +synonym: "negative regulation of transmembrane iron transport" EXACT [] +is_a: GO:0034757 ! negative regulation of iron ion transport +is_a: GO:0034759 ! regulation of iron ion transmembrane transport +is_a: GO:1904063 ! negative regulation of cation transmembrane transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0034755 ! negatively regulates iron ion transmembrane transport +relationship: RO:0002212 GO:0034755 ! negatively regulates iron ion transmembrane transport + +[Term] +id: GO:0034761 +name: positive regulation of iron ion transmembrane transport +def: "Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore." [] +synonym: "activation of transmembrane iron ion transport" NARROW [] +synonym: "positive regulation of iron ion membrane transport" EXACT [] +synonym: "positive regulation of transmembrane iron ion transport" EXACT [] +synonym: "positive regulation of transmembrane iron transport" EXACT [] +synonym: "stimulation of transmembrane iron ion transport" NARROW [] +synonym: "up regulation of transmembrane iron ion transport" EXACT [] +synonym: "up-regulation of transmembrane iron ion transport" EXACT [] +synonym: "upregulation of transmembrane iron ion transport" EXACT [] +is_a: GO:0034758 ! positive regulation of iron ion transport +is_a: GO:0034759 ! regulation of iron ion transmembrane transport +is_a: GO:1904064 ! positive regulation of cation transmembrane transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0034755 ! positively regulates iron ion transmembrane transport +relationship: RO:0002213 GO:0034755 ! positively regulates iron ion transmembrane transport + [Term] id: GO:0034762 name: regulation of transmembrane transport @@ -11173,6 +14191,20 @@ synonym: "heart cell differentiation" EXACT [] is_a: GO:0030154 ! cell differentiation relationship: BFO:0000050 GO:0007507 ! part of heart development +[Term] +id: GO:0035082 +name: axoneme assembly +def: "The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements." [] +synonym: "axoneme biogenesis" RELATED [] +synonym: "ciliary axoneme assembly" EXACT [] +synonym: "cilium axoneme assembly" EXACT [] +synonym: "cilium axoneme biogenesis" RELATED [] +synonym: "flagellar axoneme assembly" EXACT [] +synonym: "flagellum axoneme assembly" EXACT [] +is_a: GO:0001578 ! microtubule bundle formation +is_a: GO:0022607 ! cellular component assembly +relationship: BFO:0000050 GO:0060271 ! part of cilium assembly + [Term] id: GO:0035148 name: tube formation @@ -11263,6 +14295,13 @@ 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:0035369 +name: pre-B cell receptor complex +def: "An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins." [] +synonym: "pre-BCR" EXACT [] +is_a: GO:0098796 ! membrane protein complex + [Term] id: GO:0035441 name: cell migration involved in vasculogenesis @@ -11305,6 +14344,18 @@ synonym: "multicellular organismal signalling" EXACT [] is_a: GO:0023052 ! signaling is_a: GO:0032501 ! multicellular organismal process +[Term] +id: GO:0035735 +name: intraciliary transport involved in cilium assembly +def: "The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly." [] +synonym: "intraciliary transport involved in cilium morphogenesis" RELATED [] +synonym: "intraflagellar transport" BROAD [] +synonym: "intraflagellar transport involved in cilium morphogenesis" RELATED [] +is_a: GO:0042073 ! intraciliary transport +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:0035898 name: parathyroid hormone secretion @@ -11418,6 +14469,13 @@ name: small molecule binding def: "Interacting selectively and non-covalently with a small molecule, any low molecular weight, monomeric, non-encoded molecule." [] is_a: GO:0005488 ! binding +[Term] +id: GO:0036161 +name: calcitonin secretion +def: "The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell." [] +is_a: GO:0015893 ! drug transport +is_a: GO:0030072 ! peptide hormone secretion + [Term] id: GO:0036211 name: protein modification process @@ -11450,6 +14508,15 @@ is_a: GO:0044108 ! cellular alcohol biosynthetic process is_a: GO:0046173 ! polyol biosynthetic process is_a: GO:0070640 ! vitamin D3 metabolic process +[Term] +id: GO:0036385 +name: nucleoid DNA packaging +def: "Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid." [] +is_a: GO:0006323 ! DNA packaging +intersection_of: GO:0006323 ! DNA packaging +intersection_of: BFO:0000066 GO:0009295 ! occurs in nucleoid +relationship: BFO:0000066 GO:0009295 ! occurs in nucleoid + [Term] id: GO:0038023 name: signaling receptor activity @@ -11574,6 +14641,19 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0006584 ! regulates catecholamine metabolic process relationship: RO:0002211 GO:0006584 ! regulates catecholamine metabolic process +[Term] +id: GO:0042073 +name: intraciliary transport +def: "The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins." [] +synonym: "IFT" RELATED [] +synonym: "intraflagellar transport" EXACT [] +synonym: "intraflagellar transport involved in cilium organization" EXACT [] +synonym: "intraflagellar transport involved in microtubule-based flagellum organisation" EXACT [] +is_a: GO:0010970 ! transport along microtubule +is_a: GO:0031503 ! protein-containing complex localization +relationship: BFO:0000050 GO:0044782 ! part of cilium organization +relationship: BFO:0000066 GO:0005929 ! occurs in cilium + [Term] id: GO:0042088 name: T-helper 1 type immune response @@ -11589,6 +14669,27 @@ synonym: "T-helper 2 type immune response" NARROW [] synonym: "Th2 immune response" NARROW [] is_a: GO:0006955 ! immune response +[Term] +id: GO:0042101 +name: T cell receptor complex +def: "A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains." [] +synonym: "T lymphocyte receptor complex" EXACT [] +synonym: "T-cell receptor complex" EXACT [] +synonym: "T-lymphocyte receptor complex" EXACT [] +synonym: "TCR" RELATED [] +synonym: "TCR complex" EXACT [] +is_a: GO:0098802 ! plasma membrane receptor complex + +[Term] +id: GO:0042105 +name: alpha-beta T cell receptor complex +def: "A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein." [] +synonym: "alpha-beta T lymphocyte receptor complex" EXACT [] +synonym: "alpha-beta T-cell receptor complex" EXACT [] +synonym: "alpha-beta T-lymphocyte receptor complex" EXACT [] +synonym: "alpha-beta TCR complex" EXACT [] +is_a: GO:0042101 ! T cell receptor complex + [Term] id: GO:0042110 name: T cell activation @@ -11598,6 +14699,15 @@ synonym: "T-cell activation" EXACT [] synonym: "T-lymphocyte activation" EXACT [] is_a: GO:0046649 ! lymphocyte activation +[Term] +id: GO:0042113 +name: B cell activation +def: "The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific." [] +synonym: "B lymphocyte activation" EXACT [] +synonym: "B-cell activation" EXACT [] +synonym: "B-lymphocyte activation" EXACT [] +is_a: GO:0046649 ! lymphocyte activation + [Term] id: GO:0042116 name: macrophage activation @@ -11920,6 +15030,125 @@ synonym: "hormone synthesis" EXACT [] is_a: GO:0009058 ! biosynthetic process is_a: GO:0042445 ! hormone metabolic process +[Term] +id: GO:0042470 +name: melanosome +def: "A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells." [] +is_a: GO:0048770 ! pigment granule + +[Term] +id: GO:0042475 +name: odontogenesis of dentin-containing tooth +def: "The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel." [] +synonym: "odontogenesis of dentine-containing teeth" EXACT [] +synonym: "odontogenesis of dentine-containing tooth" EXACT [] +synonym: "odontogeny" BROAD [] +synonym: "odontosis" BROAD [] +synonym: "tooth development" BROAD [] +is_a: GO:0042476 ! odontogenesis + +[Term] +id: GO:0042476 +name: odontogenesis +def: "The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food." [] +synonym: "odontogenesis of calcareous or chitinous tooth" NARROW [] +synonym: "odontogeny" EXACT [] +synonym: "odontosis" EXACT [] +synonym: "tooth development" RELATED [] +synonym: "tooth morphogenesis" EXACT [] +is_a: GO:0009887 ! animal organ morphogenesis + +[Term] +id: GO:0042481 +name: regulation of odontogenesis +def: "Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth." [] +synonym: "regulation of odontogenesis of calcareous or chitinous tooth" NARROW [] +synonym: "regulation of tooth development" EXACT [] +is_a: GO:2000027 ! regulation of organ morphogenesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0042476 ! regulates odontogenesis +relationship: RO:0002211 GO:0042476 ! regulates odontogenesis + +[Term] +id: GO:0042482 +name: positive regulation of odontogenesis +def: "Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth." [] +synonym: "activation of odontogenesis" NARROW [] +synonym: "positive regulation of odontogenesis of calcareous or chitinous tooth" NARROW [] +synonym: "positive regulation of tooth development" EXACT [] +synonym: "stimulation of odontogenesis" NARROW [] +synonym: "up regulation of odontogenesis" EXACT [] +synonym: "up-regulation of odontogenesis" EXACT [] +synonym: "upregulation of odontogenesis" EXACT [] +is_a: GO:0042481 ! regulation of odontogenesis +is_a: GO:0051094 ! positive regulation of developmental process +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0042476 ! positively regulates odontogenesis +relationship: RO:0002213 GO:0042476 ! positively regulates odontogenesis + +[Term] +id: GO:0042483 +name: negative regulation of odontogenesis +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth." [] +synonym: "down regulation of odontogenesis" EXACT [] +synonym: "down-regulation of odontogenesis" EXACT [] +synonym: "downregulation of odontogenesis" EXACT [] +synonym: "inhibition of odontogenesis" NARROW [] +synonym: "negative regulation of odontogenesis of calcareous or chitinous tooth" NARROW [] +synonym: "negative regulation of tooth development" EXACT [] +is_a: GO:0042481 ! regulation of odontogenesis +is_a: GO:0051093 ! negative regulation of developmental process +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0042476 ! negatively regulates odontogenesis +relationship: RO:0002212 GO:0042476 ! negatively regulates odontogenesis + +[Term] +id: GO:0042487 +name: regulation of odontogenesis of dentin-containing tooth +def: "Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates." [] +synonym: "regulation of odontogenesis of dentine-containing teeth" EXACT [] +synonym: "regulation of odontogenesis of dentine-containing tooth" EXACT [] +is_a: GO:0042481 ! regulation of odontogenesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0042475 ! regulates odontogenesis of dentin-containing tooth +relationship: RO:0002211 GO:0042475 ! regulates odontogenesis of dentin-containing tooth + +[Term] +id: GO:0042488 +name: positive regulation of odontogenesis of dentin-containing tooth +def: "Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates." [] +synonym: "activation of odontogenesis" BROAD [] +synonym: "positive regulation of odontogenesis of dentine-containing teeth" EXACT [] +synonym: "positive regulation of odontogenesis of dentine-containing tooth" RELATED [] +synonym: "stimulation of odontogenesis" BROAD [] +synonym: "up regulation of odontogenesis" BROAD [] +synonym: "up-regulation of odontogenesis" BROAD [] +synonym: "upregulation of odontogenesis" BROAD [] +is_a: GO:0042482 ! positive regulation of odontogenesis +is_a: GO:0042487 ! regulation of odontogenesis of dentin-containing tooth +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0042475 ! positively regulates odontogenesis of dentin-containing tooth +relationship: RO:0002213 GO:0042475 ! positively regulates odontogenesis of dentin-containing tooth + +[Term] +id: GO:0042489 +name: negative regulation of odontogenesis of dentin-containing tooth +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx." [] +synonym: "down regulation of odontogenesis" BROAD [] +synonym: "down-regulation of odontogenesis" BROAD [] +synonym: "downregulation of odontogenesis" BROAD [] +synonym: "inhibition of odontogenesis" BROAD [] +synonym: "negative regulation of odontogenesis" BROAD [] +synonym: "negative regulation of odontogenesis of dentine-containing teeth" EXACT [] +synonym: "negative regulation of odontogenesis of dentine-containing tooth" RELATED [] +is_a: GO:0042483 ! negative regulation of odontogenesis +is_a: GO:0042487 ! regulation of odontogenesis of dentin-containing tooth +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0042475 ! negatively regulates odontogenesis of dentin-containing tooth +relationship: RO:0002212 GO:0042475 ! negatively regulates odontogenesis of dentin-containing tooth + [Term] id: GO:0042493 name: response to drug @@ -11955,6 +15184,15 @@ name: hormone binding def: "Interacting selectively and non-covalently with any hormone, naturally occurring substances secreted by specialized cells that affect the metabolism or behavior of other cells possessing functional receptors for the hormone." [] is_a: GO:0005488 ! binding +[Term] +id: GO:0042571 +name: immunoglobulin complex, circulating +def: "An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component." [] +synonym: "antibody" EXACT [] +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:0042579 name: microbody @@ -11962,6 +15200,27 @@ def: "Cytoplasmic organelles, spherical or oval in shape, that are bounded by a is_a: GO:0043231 ! intracellular membrane-bounded organelle is_a: GO:0044444 ! cytoplasmic part +[Term] +id: GO:0042582 +name: azurophil granule +def: "Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid." [] +synonym: "primary granule" EXACT [] +is_a: GO:0005766 ! primary lysosome +is_a: GO:0030141 ! secretory granule + +[Term] +id: GO:0042588 +name: zymogen granule +def: "A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme." [] +is_a: GO:0030141 ! secretory granule + +[Term] +id: GO:0042589 +name: zymogen granule membrane +def: "The lipid bilayer surrounding a zymogen granule." [] +is_a: GO:0030667 ! secretory granule membrane +relationship: BFO:0000050 GO:0042588 ! part of zymogen granule + [Term] id: GO:0042592 name: homeostatic process @@ -11974,6 +15233,18 @@ synonym: "positive regulation of homeostatic process" RELATED [] synonym: "regulation of homeostatic process" RELATED [] is_a: GO:0065008 ! regulation of biological quality +[Term] +id: GO:0042611 +name: MHC protein complex +def: "A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen." [] +is_a: GO:0098797 ! plasma membrane protein complex + +[Term] +id: GO:0042613 +name: MHC class II protein complex +def: "A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen." [] +is_a: GO:0042611 ! MHC protein complex + [Term] id: GO:0042632 name: cholesterol homeostasis @@ -11993,6 +15264,14 @@ intersection_of: GO:0009295 ! nucleoid intersection_of: BFO:0000050 GO:0005739 ! part of mitochondrion relationship: BFO:0000050 GO:0005759 ! part of mitochondrial matrix +[Term] +id: GO:0042692 +name: muscle cell differentiation +def: "The process in which a relatively unspecialized cell acquires specialized features of a muscle cell." [] +synonym: "myogenesis" RELATED [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0061061 ! part of muscle structure development + [Term] id: GO:0042737 name: drug catabolic process @@ -12003,6 +15282,17 @@ synonym: "drug degradation" EXACT [] is_a: GO:0017144 ! drug metabolic process is_a: GO:0044248 ! cellular catabolic process +[Term] +id: GO:0042742 +name: defense response to bacterium +def: "Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism." [] +synonym: "antibacterial peptide activity" RELATED [] +synonym: "defence response to bacteria" EXACT [] +synonym: "defence response to bacterium" EXACT [] +synonym: "defense response to bacteria" EXACT [] +is_a: GO:0009617 ! response to bacterium +is_a: GO:0098542 ! defense response to other organism + [Term] id: GO:0042745 name: circadian sleep/wake cycle @@ -12131,6 +15421,17 @@ name: amide transport def: "The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] is_a: GO:0071705 ! nitrogen compound transport +[Term] +id: GO:0042981 +name: regulation of apoptotic process +def: "Any process that modulates the occurrence or rate of cell death by apoptotic process." [] +synonym: "apoptosis regulator activity" RELATED [] +synonym: "regulation of apoptosis" NARROW [] +is_a: GO:0043067 ! regulation of programmed cell death +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006915 ! regulates apoptotic process +relationship: RO:0002211 GO:0006915 ! regulates apoptotic process + [Term] id: GO:0042995 name: cell projection @@ -12164,6 +15465,14 @@ name: camera-type eye development def: "The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field." [] is_a: GO:0001654 ! eye development +[Term] +id: GO:0043011 +name: myeloid dendritic cell differentiation +def: "The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin." [] +is_a: GO:0001773 ! myeloid dendritic cell activation +is_a: GO:0002573 ! myeloid leukocyte differentiation +is_a: GO:0097028 ! dendritic cell differentiation + [Term] id: GO:0043020 name: NADPH oxidase complex @@ -12224,6 +15533,90 @@ is_a: GO:0006518 ! peptide metabolic process is_a: GO:0043604 ! amide biosynthetic process is_a: GO:1901566 ! organonitrogen compound biosynthetic process +[Term] +id: GO:0043062 +name: extracellular structure organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite." [] +synonym: "extracellular structure organisation" EXACT [] +synonym: "extracellular structure organization and biogenesis" EXACT [] +is_a: GO:0016043 ! cellular component organization + +[Term] +id: GO:0043065 +name: positive regulation of apoptotic process +def: "Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process." [] +synonym: "activation of apoptosis" NARROW [] +synonym: "positive regulation of apoptosis" NARROW [] +synonym: "pro-apoptosis" RELATED [] +synonym: "stimulation of apoptosis" NARROW [] +synonym: "up regulation of apoptosis" EXACT [] +synonym: "up-regulation of apoptosis" EXACT [] +synonym: "upregulation of apoptosis" EXACT [] +is_a: GO:0042981 ! regulation of apoptotic process +is_a: GO:0043068 ! positive regulation of programmed cell death +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006915 ! positively regulates apoptotic process +relationship: RO:0002213 GO:0006915 ! positively regulates apoptotic process + +[Term] +id: GO:0043066 +name: negative regulation of apoptotic process +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process." [] +synonym: "anti-apoptosis" EXACT [] +synonym: "apoptosis inhibitor activity" RELATED [] +synonym: "down regulation of apoptosis" EXACT [] +synonym: "down-regulation of apoptosis" EXACT [] +synonym: "downregulation of apoptosis" EXACT [] +synonym: "inhibition of apoptosis" NARROW [] +synonym: "negative regulation of apoptosis" NARROW [] +synonym: "pro-survival" RELATED [] +is_a: GO:0042981 ! regulation of apoptotic process +is_a: GO:0043069 ! negative regulation of programmed cell death +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006915 ! negatively regulates apoptotic process +relationship: RO:0002212 GO:0006915 ! negatively regulates apoptotic process + +[Term] +id: GO:0043067 +name: regulation of programmed cell death +def: "Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes." [] +synonym: "regulation of non-apoptotic programmed cell death" NARROW [] +is_a: GO:0010941 ! regulation of cell death +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0012501 ! regulates programmed cell death +relationship: RO:0002211 GO:0012501 ! regulates programmed cell death + +[Term] +id: GO:0043068 +name: positive regulation of programmed cell death +def: "Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes." [] +synonym: "activation of programmed cell death" NARROW [] +synonym: "positive regulation of non-apoptotic programmed cell death" NARROW [] +synonym: "stimulation of programmed cell death" NARROW [] +synonym: "up regulation of programmed cell death" EXACT [] +synonym: "up-regulation of programmed cell death" EXACT [] +synonym: "upregulation of programmed cell death" EXACT [] +is_a: GO:0010942 ! positive regulation of cell death +is_a: GO:0043067 ! regulation of programmed cell death +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0012501 ! positively regulates programmed cell death +relationship: RO:0002213 GO:0012501 ! positively regulates programmed cell death + +[Term] +id: GO:0043069 +name: negative regulation of programmed cell death +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes." [] +synonym: "down regulation of programmed cell death" EXACT [] +synonym: "down-regulation of programmed cell death" EXACT [] +synonym: "downregulation of programmed cell death" EXACT [] +synonym: "inhibition of programmed cell death" NARROW [] +synonym: "negative regulation of non-apoptotic programmed cell death" NARROW [] +is_a: GO:0043067 ! regulation of programmed cell death +is_a: GO:0060548 ! negative regulation of cell death +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0012501 ! negatively regulates programmed cell death +relationship: RO:0002212 GO:0012501 ! negatively regulates programmed cell death + [Term] id: GO:0043084 name: penile erection @@ -12314,6 +15707,12 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0007249 ! negatively regulates I-kappaB kinase/NF-kappaB signaling relationship: RO:0002212 GO:0007249 ! negatively regulates I-kappaB kinase/NF-kappaB signaling +[Term] +id: GO:0043129 +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:0043167 name: ion binding @@ -12343,6 +15742,13 @@ name: organic acid binding def: "Interacting selectively and non-covalently with an organic acid, any acidic compound containing carbon in covalent linkage." [] is_a: GO:0036094 ! small molecule binding +[Term] +id: GO:0043207 +name: response to external biotic stimulus +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 external biotic stimulus, an external stimulus caused by, or produced by living things." [] +is_a: GO:0009605 ! response to external stimulus +is_a: GO:0009607 ! response to biotic stimulus + [Term] id: GO:0043217 name: myelin maintenance @@ -12415,6 +15821,17 @@ is_a: GO:0044422 ! organelle part intersection_of: GO:0031974 ! membrane-enclosed lumen intersection_of: BFO:0000050 GO:0043226 ! part of organelle +[Term] +id: GO:0043234 +is_obsolete: true +replaced_by: GO:0032991 + +[Term] +id: GO:0043235 +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:0043255 name: regulation of carbohydrate biosynthetic process @@ -12478,6 +15895,55 @@ is_a: GO:0043232 ! intracellular non-membrane-bounded organelle is_a: GO:0044444 ! cytoplasmic part is_a: GO:0099512 ! supramolecular fiber +[Term] +id: GO:0043368 +name: positive T cell selection +def: "The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death." [] +synonym: "positive T lymphocyte selection" EXACT [] +synonym: "positive T-cell selection" EXACT [] +synonym: "positive T-lymphocyte selection" EXACT [] +is_a: GO:0045058 ! T cell selection + +[Term] +id: GO:0043384 +name: pre-T cell receptor complex +def: "A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins." [] +synonym: "pre-T lymphocyte receptor complex" EXACT [] +synonym: "pre-T-cell receptor complex" EXACT [] +synonym: "pre-T-lymphocyte receptor complex" EXACT [] +synonym: "pre-TCR complex" EXACT [] +is_a: GO:0098802 ! plasma membrane receptor complex +relationship: BFO:0000050 GO:0005887 ! part of integral component of plasma membrane + +[Term] +id: GO:0043388 +name: positive regulation of DNA binding +def: "Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid)." [] +synonym: "activation of DNA binding" NARROW [] +synonym: "stimulation of DNA binding" NARROW [] +synonym: "up regulation of DNA binding" EXACT [] +synonym: "up-regulation of DNA binding" EXACT [] +synonym: "upregulation of DNA binding" EXACT [] +is_a: GO:0051099 ! positive regulation of binding +is_a: GO:0051101 ! regulation of DNA binding +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0003677 ! positively regulates DNA binding +relationship: RO:0002213 GO:0003677 ! positively regulates DNA binding + +[Term] +id: GO:0043392 +name: negative regulation of DNA binding +def: "Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid)." [] +synonym: "down regulation of DNA binding" EXACT [] +synonym: "down-regulation of DNA binding" EXACT [] +synonym: "downregulation of DNA binding" EXACT [] +synonym: "inhibition of DNA binding" NARROW [] +is_a: GO:0051100 ! negative regulation of binding +is_a: GO:0051101 ! regulation of DNA binding +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0003677 ! negatively regulates DNA binding +relationship: RO:0002212 GO:0003677 ! negatively regulates DNA binding + [Term] id: GO:0043393 name: regulation of protein binding @@ -13145,6 +16611,16 @@ intersection_of: GO:0005575 ! cellular_component intersection_of: BFO:0000050 GO:0043292 ! part of contractile fiber relationship: BFO:0000050 GO:0043292 ! part of contractile fiber +[Term] +id: GO:0044452 +name: nucleolar part +def: "Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis." [] +synonym: "nucleolus component" EXACT [] +is_a: GO:0044428 ! nuclear part +intersection_of: GO:0005575 ! cellular_component +intersection_of: BFO:0000050 GO:0005730 ! part of nucleolus +relationship: BFO:0000050 GO:0005730 ! part of nucleolus + [Term] id: GO:0044454 name: nuclear chromosome part @@ -13219,6 +16695,14 @@ def: "A multicellular organism process which involves another multicellular orga is_a: GO:0032501 ! multicellular organismal process is_a: GO:0051704 ! multi-organism process +[Term] +id: GO:0044782 +name: cilium organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole." [] +synonym: "microtubule-based flagellum organization" EXACT [] +is_a: GO:0006996 ! organelle organization +is_a: GO:0120036 ! plasma membrane bounded cell projection organization + [Term] id: GO:0044853 name: plasma membrane raft @@ -13328,6 +16812,28 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0045453 ! regulates bone resorption relationship: RO:0002211 GO:0045453 ! regulates bone resorption +[Term] +id: GO:0045132 +name: meiotic chromosome segregation +def: "The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle." [] +is_a: GO:0098813 ! nuclear chromosome segregation +is_a: GO:1903046 ! meiotic cell cycle process +intersection_of: GO:0098813 ! nuclear chromosome segregation +intersection_of: BFO:0000050 GO:0140013 ! part of meiotic nuclear division +relationship: BFO:0000050 GO:0140013 ! part of meiotic nuclear division + +[Term] +id: GO:0045144 +name: meiotic sister chromatid segregation +def: "The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle." [] +synonym: "meiosis II, chromosome segregation" EXACT [] +is_a: GO:0000819 ! sister chromatid segregation +is_a: GO:0045132 ! meiotic chromosome segregation +is_a: GO:0070192 ! chromosome organization involved in meiotic cell cycle +intersection_of: GO:0000819 ! sister chromatid segregation +intersection_of: BFO:0000050 GO:0007135 ! part of meiosis II +relationship: BFO:0000050 GO:0007135 ! part of meiosis II + [Term] id: GO:0045165 name: cell fate commitment @@ -13351,6 +16857,16 @@ 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:0045184 +name: establishment of protein localization +def: "The directed movement of a protein to a specific location." [] +synonym: "establishment of protein localisation" EXACT [] +synonym: "protein positioning" EXACT [] +synonym: "protein recruitment" EXACT [] +is_a: GO:0008104 ! protein localization +is_a: GO:0051234 ! establishment of localization + [Term] id: GO:0045187 name: regulation of circadian sleep/wake cycle, sleep @@ -13361,6 +16877,32 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0050802 ! regulates circadian sleep/wake cycle, sleep relationship: RO:0002211 GO:0050802 ! regulates circadian sleep/wake cycle, sleep +[Term] +id: GO:0045190 +name: isotype switching +def: "The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus." [] +synonym: "class switch recombination" EXACT [] +synonym: "class switching" EXACT [] +synonym: "isotype switch recombination" EXACT [] +is_a: GO:0002204 ! somatic recombination of immunoglobulin genes involved in immune response +is_a: GO:0002312 ! B cell activation involved in immune response + +[Term] +id: GO:0045191 +name: regulation of isotype switching +def: "Any process that modulates the frequency, rate or extent of isotype switching." [] +synonym: "regulation of class switch recombination" EXACT [] +synonym: "regulation of class switching" EXACT [] +synonym: "regulation of isotype switch recombination" EXACT [] +is_a: GO:0000018 ! regulation of DNA recombination +is_a: GO:0002637 ! regulation of immunoglobulin production +is_a: GO:0002889 ! regulation of immunoglobulin mediated immune response +is_a: GO:0050864 ! regulation of B cell activation +is_a: GO:2000026 ! regulation of multicellular organismal development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0045190 ! regulates isotype switching +relationship: RO:0002211 GO:0045190 ! regulates isotype switching + [Term] id: GO:0045202 name: synapse @@ -13497,6 +17039,16 @@ synonym: "oxidative metabolism" EXACT [] synonym: "respiration" BROAD [] is_a: GO:0015980 ! energy derivation by oxidation of organic compounds +[Term] +id: GO:0045444 +name: fat cell differentiation +def: "The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat." [] +synonym: "adipocyte cell differentiation" EXACT [] +synonym: "adipocyte differentiation" EXACT [] +synonym: "adipogenesis" RELATED [] +synonym: "adipose cell differentiation" EXACT [] +is_a: GO:0030154 ! cell differentiation + [Term] id: GO:0045453 name: bone resorption @@ -13566,6 +17118,59 @@ name: mast cell activation def: "The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors." [] is_a: GO:0002274 ! myeloid leukocyte activation +[Term] +id: GO:0045577 +name: regulation of B cell differentiation +def: "Any process that modulates the frequency, rate or extent of B cell differentiation." [] +synonym: "regulation of B cell development" RELATED [] +synonym: "regulation of B lymphocyte differentiation" EXACT [] +synonym: "regulation of B-cell differentiation" EXACT [] +synonym: "regulation of B-lymphocyte differentiation" EXACT [] +is_a: GO:0045619 ! regulation of lymphocyte differentiation +is_a: GO:0050864 ! regulation of B cell activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030183 ! regulates B cell differentiation +relationship: RO:0002211 GO:0030183 ! regulates B cell differentiation + +[Term] +id: GO:0045578 +name: negative regulation of B cell differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation." [] +synonym: "down regulation of B cell differentiation" EXACT [] +synonym: "down-regulation of B cell differentiation" EXACT [] +synonym: "downregulation of B cell differentiation" EXACT [] +synonym: "inhibition of B cell differentiation" NARROW [] +synonym: "negative regulation of B cell development" RELATED [] +synonym: "negative regulation of B lymphocyte differentiation" EXACT [] +synonym: "negative regulation of B-cell differentiation" EXACT [] +synonym: "negative regulation of B-lymphocyte differentiation" EXACT [] +is_a: GO:0045577 ! regulation of B cell differentiation +is_a: GO:0045620 ! negative regulation of lymphocyte differentiation +is_a: GO:0050869 ! negative regulation of B cell activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030183 ! negatively regulates B cell differentiation +relationship: RO:0002212 GO:0030183 ! negatively regulates B cell differentiation + +[Term] +id: GO:0045579 +name: positive regulation of B cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of B cell differentiation." [] +synonym: "activation of B cell differentiation" NARROW [] +synonym: "positive regulation of B cell development" RELATED [] +synonym: "positive regulation of B lymphocyte differentiation" EXACT [] +synonym: "positive regulation of B-cell differentiation" EXACT [] +synonym: "positive regulation of B-lymphocyte differentiation" EXACT [] +synonym: "stimulation of B cell differentiation" NARROW [] +synonym: "up regulation of B cell differentiation" EXACT [] +synonym: "up-regulation of B cell differentiation" EXACT [] +synonym: "upregulation of B cell differentiation" EXACT [] +is_a: GO:0045577 ! regulation of B cell differentiation +is_a: GO:0045621 ! positive regulation of lymphocyte differentiation +is_a: GO:0050871 ! positive regulation of B cell activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030183 ! positively regulates B cell differentiation +relationship: RO:0002213 GO:0030183 ! positively regulates B cell differentiation + [Term] id: GO:0045580 name: regulation of T cell differentiation @@ -13660,6 +17265,50 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0030154 ! positively regulates cell differentiation relationship: RO:0002213 GO:0030154 ! positively regulates cell differentiation +[Term] +id: GO:0045598 +name: regulation of fat cell differentiation +def: "Any process that modulates the frequency, rate or extent of adipocyte differentiation." [] +synonym: "regulation of adipocyte cell differentiation" EXACT [] +synonym: "regulation of adipocyte differentiation" EXACT [] +is_a: GO:0045595 ! regulation of cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0045444 ! regulates fat cell differentiation +relationship: RO:0002211 GO:0045444 ! regulates fat cell differentiation + +[Term] +id: GO:0045599 +name: negative regulation of fat cell differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation." [] +synonym: "down regulation of fat cell differentiation" EXACT [] +synonym: "down-regulation of fat cell differentiation" EXACT [] +synonym: "downregulation of fat cell differentiation" EXACT [] +synonym: "inhibition of fat cell differentiation" NARROW [] +synonym: "negative regulation of adipocyte cell differentiation" EXACT [] +synonym: "negative regulation of adipocyte differentiation" EXACT [] +is_a: GO:0045596 ! negative regulation of cell differentiation +is_a: GO:0045598 ! regulation of fat cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0045444 ! negatively regulates fat cell differentiation +relationship: RO:0002212 GO:0045444 ! negatively regulates fat cell differentiation + +[Term] +id: GO:0045600 +name: positive regulation of fat cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of adipocyte differentiation." [] +synonym: "activation of fat cell differentiation" NARROW [] +synonym: "positive regulation of adipocyte cell differentiation" EXACT [] +synonym: "positive regulation of adipocyte differentiation" EXACT [] +synonym: "stimulation of fat cell differentiation" NARROW [] +synonym: "up regulation of fat cell differentiation" EXACT [] +synonym: "up-regulation of fat cell differentiation" EXACT [] +synonym: "upregulation of fat cell differentiation" EXACT [] +is_a: GO:0045597 ! positive regulation of cell differentiation +is_a: GO:0045598 ! regulation of fat cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0045444 ! positively regulates fat cell differentiation +relationship: RO:0002213 GO:0045444 ! positively regulates fat cell differentiation + [Term] id: GO:0045619 name: regulation of lymphocyte differentiation @@ -13704,6 +17353,411 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0030098 ! positively regulates lymphocyte differentiation relationship: RO:0002213 GO:0030098 ! positively regulates lymphocyte differentiation +[Term] +id: GO:0045637 +name: regulation of myeloid cell differentiation +def: "Any process that modulates the frequency, rate or extent of myeloid cell differentiation." [] +is_a: GO:0045595 ! regulation of cell differentiation +is_a: GO:1903706 ! regulation of hemopoiesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030099 ! regulates myeloid cell differentiation +relationship: RO:0002211 GO:0030099 ! regulates myeloid cell differentiation + +[Term] +id: GO:0045638 +name: negative regulation of myeloid cell differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation." [] +synonym: "down regulation of myeloid cell differentiation" EXACT [] +synonym: "down-regulation of myeloid cell differentiation" EXACT [] +synonym: "downregulation of myeloid cell differentiation" EXACT [] +synonym: "inhibition of myeloid cell differentiation" NARROW [] +is_a: GO:0045596 ! negative regulation of cell differentiation +is_a: GO:0045637 ! regulation of myeloid cell differentiation +is_a: GO:1903707 ! negative regulation of hemopoiesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030099 ! negatively regulates myeloid cell differentiation +relationship: RO:0002212 GO:0030099 ! negatively regulates myeloid cell differentiation + +[Term] +id: GO:0045639 +name: positive regulation of myeloid cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation." [] +synonym: "activation of myeloid cell differentiation" NARROW [] +synonym: "stimulation of myeloid cell differentiation" NARROW [] +synonym: "up regulation of myeloid cell differentiation" EXACT [] +synonym: "up-regulation of myeloid cell differentiation" EXACT [] +synonym: "upregulation of myeloid cell differentiation" EXACT [] +is_a: GO:0045597 ! positive regulation of cell differentiation +is_a: GO:0045637 ! regulation of myeloid cell differentiation +is_a: GO:1903708 ! positive regulation of hemopoiesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030099 ! positively regulates myeloid cell differentiation +relationship: RO:0002213 GO:0030099 ! positively regulates myeloid cell differentiation + +[Term] +id: GO:0045640 +name: regulation of basophil differentiation +def: "Any process that modulates the frequency, rate or extent of basophil differentiation." [] +is_a: GO:0030852 ! regulation of granulocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030221 ! regulates basophil differentiation +relationship: RO:0002211 GO:0030221 ! regulates basophil differentiation + +[Term] +id: GO:0045641 +name: negative regulation of basophil differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation." [] +synonym: "down regulation of basophil differentiation" EXACT [] +synonym: "down-regulation of basophil differentiation" EXACT [] +synonym: "downregulation of basophil differentiation" EXACT [] +synonym: "inhibition of basophil differentiation" NARROW [] +is_a: GO:0030853 ! negative regulation of granulocyte differentiation +is_a: GO:0045640 ! regulation of basophil differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030221 ! negatively regulates basophil differentiation +relationship: RO:0002212 GO:0030221 ! negatively regulates basophil differentiation + +[Term] +id: GO:0045642 +name: positive regulation of basophil differentiation +def: "Any process that activates or increases the frequency, rate or extent of basophil differentiation." [] +synonym: "activation of basophil differentiation" NARROW [] +synonym: "stimulation of basophil differentiation" NARROW [] +synonym: "up regulation of basophil differentiation" EXACT [] +synonym: "up-regulation of basophil differentiation" EXACT [] +synonym: "upregulation of basophil differentiation" EXACT [] +is_a: GO:0030854 ! positive regulation of granulocyte differentiation +is_a: GO:0045640 ! regulation of basophil differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030221 ! positively regulates basophil differentiation +relationship: RO:0002213 GO:0030221 ! positively regulates basophil differentiation + +[Term] +id: GO:0045646 +name: regulation of erythrocyte differentiation +def: "Any process that modulates the frequency, rate or extent of erythrocyte differentiation." [] +synonym: "regulation of RBC differentiation" EXACT [] +synonym: "regulation of red blood cell differentiation" EXACT [] +is_a: GO:0045637 ! regulation of myeloid cell differentiation +is_a: GO:0065008 ! regulation of biological quality +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030218 ! regulates erythrocyte differentiation +relationship: RO:0002211 GO:0030218 ! regulates erythrocyte differentiation + +[Term] +id: GO:0045647 +name: negative regulation of erythrocyte differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation." [] +synonym: "down regulation of erythrocyte differentiation" EXACT [] +synonym: "down-regulation of erythrocyte differentiation" EXACT [] +synonym: "downregulation of erythrocyte differentiation" EXACT [] +synonym: "inhibition of erythrocyte differentiation" NARROW [] +synonym: "negative regulation of RBC differentiation" EXACT [] +synonym: "negative regulation of red blood cell differentiation" EXACT [] +is_a: GO:0045638 ! negative regulation of myeloid cell differentiation +is_a: GO:0045646 ! regulation of erythrocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030218 ! negatively regulates erythrocyte differentiation +relationship: RO:0002212 GO:0030218 ! negatively regulates erythrocyte differentiation + +[Term] +id: GO:0045648 +name: positive regulation of erythrocyte differentiation +def: "Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation." [] +synonym: "activation of erythrocyte differentiation" NARROW [] +synonym: "positive regulation of RBC differentiation" EXACT [] +synonym: "positive regulation of red blood cell differentiation" EXACT [] +synonym: "stimulation of erythrocyte differentiation" NARROW [] +synonym: "up regulation of erythrocyte differentiation" EXACT [] +synonym: "up-regulation of erythrocyte differentiation" EXACT [] +synonym: "upregulation of erythrocyte differentiation" EXACT [] +is_a: GO:0045639 ! positive regulation of myeloid cell differentiation +is_a: GO:0045646 ! regulation of erythrocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030218 ! positively regulates erythrocyte differentiation +relationship: RO:0002213 GO:0030218 ! positively regulates erythrocyte differentiation + +[Term] +id: GO:0045649 +name: regulation of macrophage differentiation +def: "Any process that modulates the frequency, rate or extent of macrophage differentiation." [] +is_a: GO:0002761 ! regulation of myeloid leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030225 ! regulates macrophage differentiation +relationship: RO:0002211 GO:0030225 ! regulates macrophage differentiation + +[Term] +id: GO:0045650 +name: negative regulation of macrophage differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation." [] +synonym: "down regulation of macrophage differentiation" EXACT [] +synonym: "down-regulation of macrophage differentiation" EXACT [] +synonym: "downregulation of macrophage differentiation" EXACT [] +synonym: "inhibition of macrophage differentiation" NARROW [] +is_a: GO:0002762 ! negative regulation of myeloid leukocyte differentiation +is_a: GO:0045649 ! regulation of macrophage differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030225 ! negatively regulates macrophage differentiation +relationship: RO:0002212 GO:0030225 ! negatively regulates macrophage differentiation + +[Term] +id: GO:0045651 +name: positive regulation of macrophage differentiation +def: "Any process that activates or increases the frequency, rate or extent of macrophage differentiation." [] +synonym: "activation of macrophage differentiation" NARROW [] +synonym: "stimulation of macrophage differentiation" NARROW [] +synonym: "up regulation of macrophage differentiation" EXACT [] +synonym: "up-regulation of macrophage differentiation" EXACT [] +synonym: "upregulation of macrophage differentiation" EXACT [] +is_a: GO:0002763 ! positive regulation of myeloid leukocyte differentiation +is_a: GO:0045649 ! regulation of macrophage differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030225 ! positively regulates macrophage differentiation +relationship: RO:0002213 GO:0030225 ! positively regulates macrophage differentiation + +[Term] +id: GO:0045652 +name: regulation of megakaryocyte differentiation +def: "Any process that modulates the frequency, rate or extent of megakaryocyte differentiation." [] +is_a: GO:0045637 ! regulation of myeloid cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030219 ! regulates megakaryocyte differentiation +relationship: RO:0002211 GO:0030219 ! regulates megakaryocyte differentiation + +[Term] +id: GO:0045653 +name: negative regulation of megakaryocyte differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation." [] +synonym: "down regulation of megakaryocyte differentiation" EXACT [] +synonym: "down-regulation of megakaryocyte differentiation" EXACT [] +synonym: "downregulation of megakaryocyte differentiation" EXACT [] +synonym: "inhibition of megakaryocyte differentiation" NARROW [] +is_a: GO:0045638 ! negative regulation of myeloid cell differentiation +is_a: GO:0045652 ! regulation of megakaryocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030219 ! negatively regulates megakaryocyte differentiation +relationship: RO:0002212 GO:0030219 ! negatively regulates megakaryocyte differentiation + +[Term] +id: GO:0045654 +name: positive regulation of megakaryocyte differentiation +def: "Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation." [] +synonym: "activation of megakaryocyte differentiation" NARROW [] +synonym: "stimulation of megakaryocyte differentiation" NARROW [] +synonym: "up regulation of megakaryocyte differentiation" EXACT [] +synonym: "up-regulation of megakaryocyte differentiation" EXACT [] +synonym: "upregulation of megakaryocyte differentiation" EXACT [] +is_a: GO:0045639 ! positive regulation of myeloid cell differentiation +is_a: GO:0045652 ! regulation of megakaryocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030219 ! positively regulates megakaryocyte differentiation +relationship: RO:0002213 GO:0030219 ! positively regulates megakaryocyte differentiation + +[Term] +id: GO:0045655 +name: regulation of monocyte differentiation +def: "Any process that modulates the frequency, rate or extent of monocyte differentiation." [] +is_a: GO:0002761 ! regulation of myeloid leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030224 ! regulates monocyte differentiation +relationship: RO:0002211 GO:0030224 ! regulates monocyte differentiation + +[Term] +id: GO:0045656 +name: negative regulation of monocyte differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation." [] +synonym: "down regulation of monocyte differentiation" EXACT [] +synonym: "down-regulation of monocyte differentiation" EXACT [] +synonym: "downregulation of monocyte differentiation" EXACT [] +synonym: "inhibition of monocyte differentiation" NARROW [] +is_a: GO:0002762 ! negative regulation of myeloid leukocyte differentiation +is_a: GO:0045655 ! regulation of monocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030224 ! negatively regulates monocyte differentiation +relationship: RO:0002212 GO:0030224 ! negatively regulates monocyte differentiation + +[Term] +id: GO:0045657 +name: positive regulation of monocyte differentiation +def: "Any process that activates or increases the frequency, rate or extent of monocyte differentiation." [] +synonym: "activation of monocyte differentiation" NARROW [] +synonym: "stimulation of monocyte differentiation" NARROW [] +synonym: "up regulation of monocyte differentiation" EXACT [] +synonym: "up-regulation of monocyte differentiation" EXACT [] +synonym: "upregulation of monocyte differentiation" EXACT [] +is_a: GO:0002763 ! positive regulation of myeloid leukocyte differentiation +is_a: GO:0045655 ! regulation of monocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030224 ! positively regulates monocyte differentiation +relationship: RO:0002213 GO:0030224 ! positively regulates monocyte differentiation + +[Term] +id: GO:0045664 +name: regulation of neuron differentiation +def: "Any process that modulates the frequency, rate or extent of neuron differentiation." [] +is_a: GO:0050767 ! regulation of neurogenesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030182 ! regulates neuron differentiation +relationship: RO:0002211 GO:0030182 ! regulates neuron differentiation + +[Term] +id: GO:0045665 +name: negative regulation of neuron differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation." [] +synonym: "down regulation of neuron differentiation" EXACT [] +synonym: "down-regulation of neuron differentiation" EXACT [] +synonym: "downregulation of neuron differentiation" EXACT [] +synonym: "inhibition of neuron differentiation" NARROW [] +is_a: GO:0045664 ! regulation of neuron differentiation +is_a: GO:0050768 ! negative regulation of neurogenesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030182 ! negatively regulates neuron differentiation +relationship: RO:0002212 GO:0030182 ! negatively regulates neuron differentiation + +[Term] +id: GO:0045666 +name: positive regulation of neuron differentiation +def: "Any process that activates or increases the frequency, rate or extent of neuron differentiation." [] +synonym: "activation of neuron differentiation" NARROW [] +synonym: "stimulation of neuron differentiation" NARROW [] +synonym: "up regulation of neuron differentiation" EXACT [] +synonym: "up-regulation of neuron differentiation" EXACT [] +synonym: "upregulation of neuron differentiation" EXACT [] +is_a: GO:0045664 ! regulation of neuron differentiation +is_a: GO:0050769 ! positive regulation of neurogenesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030182 ! positively regulates neuron differentiation +relationship: RO:0002213 GO:0030182 ! positively regulates neuron differentiation + +[Term] +id: GO:0045667 +name: regulation of osteoblast differentiation +def: "Any process that modulates the frequency, rate or extent of osteoblast differentiation." [] +is_a: GO:0030278 ! regulation of ossification +is_a: GO:0045595 ! regulation of cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001649 ! regulates osteoblast differentiation +relationship: RO:0002211 GO:0001649 ! regulates osteoblast differentiation + +[Term] +id: GO:0045668 +name: negative regulation of osteoblast differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation." [] +synonym: "down regulation of osteoblast differentiation" EXACT [] +synonym: "down-regulation of osteoblast differentiation" EXACT [] +synonym: "downregulation of osteoblast differentiation" EXACT [] +synonym: "inhibition of osteoblast differentiation" NARROW [] +is_a: GO:0030279 ! negative regulation of ossification +is_a: GO:0045596 ! negative regulation of cell differentiation +is_a: GO:0045667 ! regulation of osteoblast differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001649 ! negatively regulates osteoblast differentiation +relationship: RO:0002212 GO:0001649 ! negatively regulates osteoblast differentiation + +[Term] +id: GO:0045669 +name: positive regulation of osteoblast differentiation +def: "Any process that activates or increases the frequency, rate or extent of osteoblast differentiation." [] +synonym: "activation of osteoblast differentiation" NARROW [] +synonym: "stimulation of osteoblast differentiation" NARROW [] +synonym: "up regulation of osteoblast differentiation" EXACT [] +synonym: "up-regulation of osteoblast differentiation" EXACT [] +synonym: "upregulation of osteoblast differentiation" EXACT [] +is_a: GO:0045597 ! positive regulation of cell differentiation +is_a: GO:0045667 ! regulation of osteoblast differentiation +is_a: GO:0045778 ! positive regulation of ossification +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001649 ! positively regulates osteoblast differentiation +relationship: RO:0002213 GO:0001649 ! positively regulates osteoblast differentiation + +[Term] +id: GO:0045670 +name: regulation of osteoclast differentiation +def: "Any process that modulates the frequency, rate or extent of osteoclast differentiation." [] +is_a: GO:0002761 ! regulation of myeloid leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030316 ! regulates osteoclast differentiation +relationship: RO:0002211 GO:0030316 ! regulates osteoclast differentiation + +[Term] +id: GO:0045671 +name: negative regulation of osteoclast differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation." [] +synonym: "down regulation of osteoclast differentiation" EXACT [] +synonym: "down-regulation of osteoclast differentiation" EXACT [] +synonym: "downregulation of osteoclast differentiation" EXACT [] +synonym: "inhibition of osteoclast differentiation" NARROW [] +is_a: GO:0002762 ! negative regulation of myeloid leukocyte differentiation +is_a: GO:0045670 ! regulation of osteoclast differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030316 ! negatively regulates osteoclast differentiation +relationship: RO:0002212 GO:0030316 ! negatively regulates osteoclast differentiation + +[Term] +id: GO:0045672 +name: positive regulation of osteoclast differentiation +def: "Any process that activates or increases the frequency, rate or extent of osteoclast differentiation." [] +synonym: "activation of osteoclast differentiation" NARROW [] +synonym: "stimulation of osteoclast differentiation" NARROW [] +synonym: "up regulation of osteoclast differentiation" EXACT [] +synonym: "up-regulation of osteoclast differentiation" EXACT [] +synonym: "upregulation of osteoclast differentiation" EXACT [] +is_a: GO:0002763 ! positive regulation of myeloid leukocyte differentiation +is_a: GO:0045670 ! regulation of osteoclast differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030316 ! positively regulates osteoclast differentiation +relationship: RO:0002213 GO:0030316 ! positively regulates osteoclast differentiation + +[Term] +id: GO:0045700 +name: regulation of spermatid nuclear differentiation +def: "Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation." [] +is_a: GO:0043900 ! regulation of multi-organism process +is_a: GO:0051239 ! regulation of multicellular organismal process +is_a: GO:0060284 ! regulation of cell development +is_a: GO:1903353 ! regulation of nucleus organization +is_a: GO:2000241 ! regulation of reproductive process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0007289 ! regulates spermatid nucleus differentiation +relationship: RO:0002211 GO:0007289 ! regulates spermatid nucleus differentiation + +[Term] +id: GO:0045701 +name: negative regulation of spermatid nuclear differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation." [] +synonym: "down regulation of spermatid nuclear differentiation" EXACT [] +synonym: "down-regulation of spermatid nuclear differentiation" EXACT [] +synonym: "downregulation of spermatid nuclear differentiation" EXACT [] +synonym: "inhibition of spermatid nuclear differentiation" NARROW [] +is_a: GO:0010639 ! negative regulation of organelle organization +is_a: GO:0010721 ! negative regulation of cell development +is_a: GO:0043901 ! negative regulation of multi-organism process +is_a: GO:0045700 ! regulation of spermatid nuclear differentiation +is_a: GO:0051241 ! negative regulation of multicellular organismal process +is_a: GO:2000242 ! negative regulation of reproductive process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0007289 ! negatively regulates spermatid nucleus differentiation +relationship: RO:0002212 GO:0007289 ! negatively regulates spermatid nucleus differentiation + +[Term] +id: GO:0045702 +name: positive regulation of spermatid nuclear differentiation +def: "Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation." [] +synonym: "activation of spermatid nuclear differentiation" NARROW [] +synonym: "stimulation of spermatid nuclear differentiation" NARROW [] +synonym: "up regulation of spermatid nuclear differentiation" EXACT [] +synonym: "up-regulation of spermatid nuclear differentiation" EXACT [] +synonym: "upregulation of spermatid nuclear differentiation" EXACT [] +is_a: GO:0010638 ! positive regulation of organelle organization +is_a: GO:0010720 ! positive regulation of cell development +is_a: GO:0043902 ! positive regulation of multi-organism process +is_a: GO:0045700 ! regulation of spermatid nuclear differentiation +is_a: GO:0051240 ! positive regulation of multicellular organismal process +is_a: GO:2000243 ! positive regulation of reproductive process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0007289 ! positively regulates spermatid nucleus differentiation +relationship: RO:0002213 GO:0007289 ! positively regulates spermatid nucleus differentiation + [Term] id: GO:0045717 name: negative regulation of fatty acid biosynthetic process @@ -13776,6 +17830,24 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006633 ! positively regulates fatty acid biosynthetic process relationship: RO:0002213 GO:0006633 ! positively regulates fatty acid biosynthetic process +[Term] +id: GO:0045724 +name: positive regulation of cilium assembly +def: "Any process that activates or increases the frequency, rate or extent of the formation of a cilium." [] +synonym: "activation of cilium assembly" NARROW [] +synonym: "positive regulation of flagellum assembly" BROAD [] +synonym: "positive regulation of flagellum biogenesis" RELATED [] +synonym: "stimulation of cilium assembly" NARROW [] +synonym: "up regulation of cilium assembly" EXACT [] +synonym: "up-regulation of cilium assembly" EXACT [] +synonym: "upregulation of cilium assembly" EXACT [] +is_a: GO:0120034 ! positive regulation of plasma membrane bounded cell projection assembly +is_a: GO:1902017 ! regulation of cilium assembly +is_a: GO:1902117 ! positive regulation of organelle assembly +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:0045738 name: negative regulation of DNA repair @@ -13807,6 +17879,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006281 ! positively regulates DNA repair relationship: RO:0002213 GO:0006281 ! positively regulates DNA repair +[Term] +id: GO:0045759 +name: negative regulation of action potential +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." [] +synonym: "down regulation of action potential" EXACT [] +synonym: "down-regulation of action potential" EXACT [] +synonym: "downregulation of action potential" EXACT [] +synonym: "inhibition of action potential" NARROW [] +is_a: GO:0048519 ! negative regulation of biological process +is_a: GO:0098900 ! regulation of action potential +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001508 ! negatively regulates action potential +relationship: RO:0002212 GO:0001508 ! negatively regulates action potential + +[Term] +id: GO:0045760 +name: positive regulation of action potential +def: "Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." [] +synonym: "activation of action potential" NARROW [] +synonym: "stimulation of action potential" NARROW [] +synonym: "up regulation of action potential" EXACT [] +synonym: "up-regulation of action potential" EXACT [] +synonym: "upregulation of action potential" EXACT [] +is_a: GO:0048518 ! positive regulation of biological process +is_a: GO:0098900 ! regulation of action potential +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001508 ! positively regulates action potential +relationship: RO:0002213 GO:0001508 ! positively regulates action potential + [Term] id: GO:0045763 name: negative regulation of cellular amino acid metabolic process @@ -14079,6 +18180,51 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006720 ! positively regulates isoprenoid metabolic process relationship: RO:0002213 GO:0006720 ! positively regulates isoprenoid metabolic process +[Term] +id: GO:0045829 +name: negative regulation of isotype switching +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching." [] +synonym: "down regulation of isotype switching" EXACT [] +synonym: "down-regulation of isotype switching" EXACT [] +synonym: "downregulation of isotype switching" EXACT [] +synonym: "inhibition of isotype switching" NARROW [] +synonym: "negative regulation of class switch recombination" EXACT [] +synonym: "negative regulation of class switching" EXACT [] +synonym: "negative regulation of isotype switch recombination" EXACT [] +is_a: GO:0002638 ! negative regulation of immunoglobulin production +is_a: GO:0002890 ! negative regulation of immunoglobulin mediated immune response +is_a: GO:0045191 ! regulation of isotype switching +is_a: GO:0045910 ! negative regulation of DNA recombination +is_a: GO:0050869 ! negative regulation of B cell activation +is_a: GO:0051093 ! negative regulation of developmental process +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0045190 ! negatively regulates isotype switching +relationship: RO:0002212 GO:0045190 ! negatively regulates isotype switching + +[Term] +id: GO:0045830 +name: positive regulation of isotype switching +def: "Any process that activates or increases the frequency, rate or extent of isotype switching." [] +synonym: "activation of isotype switching" NARROW [] +synonym: "positive regulation of class switch recombination" EXACT [] +synonym: "positive regulation of class switching" EXACT [] +synonym: "positive regulation of isotype switch recombination" EXACT [] +synonym: "stimulation of isotype switching" NARROW [] +synonym: "up regulation of isotype switching" EXACT [] +synonym: "up-regulation of isotype switching" EXACT [] +synonym: "upregulation of isotype switching" EXACT [] +is_a: GO:0002639 ! positive regulation of immunoglobulin production +is_a: GO:0002891 ! positive regulation of immunoglobulin mediated immune response +is_a: GO:0045191 ! regulation of isotype switching +is_a: GO:0045911 ! positive regulation of DNA recombination +is_a: GO:0050871 ! positive regulation of B cell activation +is_a: GO:0051094 ! positive regulation of developmental process +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0045190 ! positively regulates isotype switching +relationship: RO:0002213 GO:0045190 ! positively regulates isotype switching + [Term] id: GO:0045833 name: negative regulation of lipid metabolic process @@ -14145,6 +18291,73 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0140013 ! positively regulates meiotic nuclear division relationship: RO:0002213 GO:0140013 ! positively regulates meiotic nuclear division +[Term] +id: GO:0045839 +name: negative regulation of mitotic nuclear division +def: "Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother." [] +synonym: "down regulation of mitosis" EXACT [] +synonym: "down-regulation of mitosis" EXACT [] +synonym: "downregulation of mitosis" EXACT [] +synonym: "inhibition of mitosis" NARROW [] +synonym: "negative regulation of mitosis" EXACT [] +is_a: GO:0007088 ! regulation of mitotic nuclear division +is_a: GO:0010948 ! negative regulation of cell cycle process +is_a: GO:0045930 ! negative regulation of mitotic cell cycle +is_a: GO:0051784 ! negative regulation of nuclear division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0140014 ! negatively regulates mitotic nuclear division +relationship: RO:0002212 GO:0140014 ! negatively regulates mitotic nuclear division + +[Term] +id: GO:0045840 +name: positive regulation of mitotic nuclear division +def: "Any process that activates or increases the frequency, rate or extent of mitosis." [] +synonym: "activation of mitosis" NARROW [] +synonym: "mitogenic activity" NARROW [] +synonym: "positive regulation of mitosis" EXACT [] +synonym: "stimulation of mitosis" NARROW [] +synonym: "up regulation of mitosis" EXACT [] +synonym: "up-regulation of mitosis" EXACT [] +synonym: "upregulation of mitosis" EXACT [] +is_a: GO:0007088 ! regulation of mitotic nuclear division +is_a: GO:0045931 ! positive regulation of mitotic cell cycle +is_a: GO:0051785 ! positive regulation of nuclear division +is_a: GO:0090068 ! positive regulation of cell cycle process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0140014 ! positively regulates mitotic nuclear division +relationship: RO:0002213 GO:0140014 ! positively regulates mitotic nuclear division + +[Term] +id: GO:0045843 +name: negative regulation of striated muscle tissue development +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development." [] +synonym: "down regulation of striated muscle development" EXACT [] +synonym: "down-regulation of striated muscle development" EXACT [] +synonym: "downregulation of striated muscle development" EXACT [] +synonym: "inhibition of striated muscle development" NARROW [] +is_a: GO:0016202 ! regulation of striated muscle tissue development +is_a: GO:0048635 ! negative regulation of muscle organ development +is_a: GO:1901862 ! negative regulation of muscle tissue development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0014706 ! negatively regulates striated muscle tissue development +relationship: RO:0002212 GO:0014706 ! negatively regulates striated muscle tissue development + +[Term] +id: GO:0045844 +name: positive regulation of striated muscle tissue development +def: "Any process that activates or increases the frequency, rate or extent of striated muscle development." [] +synonym: "activation of striated muscle development" NARROW [] +synonym: "stimulation of striated muscle development" NARROW [] +synonym: "up regulation of striated muscle development" EXACT [] +synonym: "up-regulation of striated muscle development" EXACT [] +synonym: "upregulation of striated muscle development" EXACT [] +is_a: GO:0016202 ! regulation of striated muscle tissue development +is_a: GO:0048636 ! positive regulation of muscle organ development +is_a: GO:1901863 ! positive regulation of muscle tissue development +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:0045861 name: negative regulation of proteolysis @@ -14288,6 +18501,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0042310 ! positively regulates vasoconstriction relationship: RO:0002213 GO:0042310 ! positively regulates vasoconstriction +[Term] +id: GO:0045910 +name: negative regulation of DNA recombination +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination." [] +synonym: "down regulation of DNA recombination" EXACT [] +synonym: "down-regulation of DNA recombination" EXACT [] +synonym: "downregulation of DNA recombination" EXACT [] +synonym: "inhibition of DNA recombination" NARROW [] +is_a: GO:0000018 ! regulation of DNA recombination +is_a: GO:0051053 ! negative regulation of DNA metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006310 ! negatively regulates DNA recombination +relationship: RO:0002212 GO:0006310 ! negatively regulates DNA recombination + +[Term] +id: GO:0045911 +name: positive regulation of DNA recombination +def: "Any process that activates or increases the frequency, rate or extent of DNA recombination." [] +synonym: "activation of DNA recombination" NARROW [] +synonym: "stimulation of DNA recombination" NARROW [] +synonym: "up regulation of DNA recombination" EXACT [] +synonym: "up-regulation of DNA recombination" EXACT [] +synonym: "upregulation of DNA recombination" EXACT [] +is_a: GO:0000018 ! regulation of DNA recombination +is_a: GO:0051054 ! positive regulation of DNA metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006310 ! positively regulates DNA recombination +relationship: RO:0002213 GO:0006310 ! positively regulates DNA recombination + [Term] id: GO:0045912 name: negative regulation of carbohydrate metabolic process @@ -14420,6 +18662,39 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006631 ! positively regulates fatty acid metabolic process relationship: RO:0002213 GO:0006631 ! positively regulates fatty acid metabolic process +[Term] +id: GO:0045930 +name: negative regulation of mitotic cell cycle +def: "Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle." [] +synonym: "down regulation of progression through mitotic cell cycle" EXACT [] +synonym: "down-regulation of progression through mitotic cell cycle" EXACT [] +synonym: "downregulation of progression through mitotic cell cycle" EXACT [] +synonym: "inhibition of progression through mitotic cell cycle" NARROW [] +synonym: "negative regulation of mitotic cell cycle progression" EXACT [] +synonym: "negative regulation of progression through mitotic cell cycle" EXACT [] +is_a: GO:0007346 ! regulation of mitotic cell cycle +is_a: GO:0045786 ! negative regulation of cell cycle +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0000278 ! negatively regulates mitotic cell cycle +relationship: RO:0002212 GO:0000278 ! negatively regulates mitotic cell cycle + +[Term] +id: GO:0045931 +name: positive regulation of mitotic cell cycle +def: "Any process that activates or increases the rate or extent of progression through the mitotic cell cycle." [] +synonym: "activation of progression through mitotic cell cycle" NARROW [] +synonym: "positive regulation of mitotic cell cycle progression" EXACT [] +synonym: "positive regulation of progression through mitotic cell cycle" EXACT [] +synonym: "stimulation of progression through mitotic cell cycle" NARROW [] +synonym: "up regulation of progression through mitotic cell cycle" EXACT [] +synonym: "up-regulation of progression through mitotic cell cycle" EXACT [] +synonym: "upregulation of progression through mitotic cell cycle" EXACT [] +is_a: GO:0007346 ! regulation of mitotic cell cycle +is_a: GO:0045787 ! positive regulation of cell cycle +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0000278 ! positively regulates mitotic cell cycle +relationship: RO:0002213 GO:0000278 ! positively regulates mitotic cell cycle + [Term] id: GO:0045934 name: negative regulation of nucleobase-containing compound metabolic process @@ -15025,6 +19300,21 @@ is_a: GO:0006767 ! water-soluble vitamin metabolic process is_a: GO:0017144 ! drug metabolic process is_a: GO:0043648 ! dicarboxylic acid metabolic process +[Term] +id: GO:0046676 +name: negative regulation of insulin secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin." [] +synonym: "down regulation of insulin secretion" EXACT [] +synonym: "down-regulation of insulin secretion" EXACT [] +synonym: "downregulation of insulin secretion" EXACT [] +synonym: "inhibition of insulin secretion" NARROW [] +is_a: GO:0050709 ! negative regulation of protein secretion +is_a: GO:0050796 ! regulation of insulin secretion +is_a: GO:0090278 ! negative regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030073 ! negatively regulates insulin secretion +relationship: RO:0002212 GO:0030073 ! negatively regulates insulin secretion + [Term] id: GO:0046700 name: heterocycle catabolic process @@ -15241,6 +19531,13 @@ intersection_of: GO:0006810 ! transport intersection_of: BFO:0000066 GO:0005622 ! occurs in intracellular relationship: BFO:0000066 GO:0005622 ! occurs in intracellular +[Term] +id: GO:0046915 +name: transition metal ion transmembrane transporter activity +def: "Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver." [] +is_a: GO:0046873 ! metal ion transmembrane transporter activity +relationship: BFO:0000050 GO:0000041 ! part of transition metal ion transport + [Term] id: GO:0046916 name: cellular transition metal ion homeostasis @@ -15272,6 +19569,15 @@ def: "The directed movement of carboxylic acids into, out of or within a cell, o is_a: GO:0015711 ! organic anion transport is_a: GO:0015849 ! organic acid transport +[Term] +id: GO:0046943 +name: carboxylic acid transmembrane transporter activity +def: "Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-)." [] +is_a: GO:0005342 ! organic acid transmembrane transporter activity +is_a: GO:0008514 ! organic anion transmembrane transporter activity +is_a: GO:0015318 ! inorganic molecular entity transmembrane transporter activity +relationship: BFO:0000050 GO:1905039 ! part of carboxylic acid transmembrane transport + [Term] id: GO:0046950 name: cellular ketone body metabolic process @@ -15295,6 +19601,23 @@ is_a: GO:0046950 ! cellular ketone body metabolic process is_a: GO:1901569 ! fatty acid derivative catabolic process is_a: GO:1902224 ! ketone body metabolic process +[Term] +id: GO:0047291 +name: lactosylceramide alpha-2,3-sialyltransferase activity +def: "Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3." [] +synonym: "CMP-acetylneuraminate-lactosylceramide-sialyltransferase" BROAD [] +synonym: "CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity" EXACT [] +synonym: "CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity" EXACT [] +synonym: "CMP-sialic acid:lactosylceramide-sialyltransferase activity" EXACT [] +synonym: "cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity" EXACT [] +synonym: "cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase" BROAD [] +synonym: "ganglioside GM3 synthase activity" EXACT [] +synonym: "ganglioside GM3 synthetase activity" EXACT [] +synonym: "GM3 synthase activity" EXACT [] +synonym: "GM3 synthetase activity" EXACT [] +synonym: "SAT 1" RELATED [] +is_a: GO:0008373 ! sialyltransferase activity + [Term] id: GO:0047598 name: 7-dehydrocholesterol reductase activity @@ -15315,12 +19638,66 @@ synonym: "vitamin D receptor activator activity" NARROW [] is_a: GO:0005102 ! signaling receptor binding is_a: GO:0030545 ! receptor regulator activity +[Term] +id: GO:0048103 +name: somatic stem cell division +def: "The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line." [] +synonym: "somatic stem cell renewal" EXACT [] +is_a: GO:0017145 ! stem cell division + +[Term] +id: GO:0048137 +name: spermatocyte division +def: "The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids." [] +synonym: "spermatocyte cell division" EXACT [] +is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism +is_a: GO:0051301 ! cell division +relationship: BFO:0000050 GO:0007283 ! part of spermatogenesis + +[Term] +id: GO:0048193 +name: Golgi vesicle transport +def: "The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles." [] +synonym: "Golgi-derived vesicle transport" RELATED [] +is_a: GO:0016192 ! vesicle-mediated transport + +[Term] +id: GO:0048199 +name: vesicle targeting, to, from or within Golgi +def: "The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation." [] +synonym: "dictyosome vesicle targeting" NARROW [] +synonym: "Golgi vesicle targeting" EXACT [] +synonym: "vesicle targeting, to, from or within dictyosome" NARROW [] +is_a: GO:0006903 ! vesicle targeting +relationship: BFO:0000050 GO:0048193 ! part of Golgi vesicle transport + +[Term] +id: GO:0048209 +name: regulation of vesicle targeting, to, from or within Golgi +def: "Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus." [] +synonym: "regulation of Golgi vesicle targeting" EXACT [] +is_a: GO:0060341 ! regulation of cellular localization +is_a: GO:0060627 ! regulation of vesicle-mediated transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0048199 ! regulates vesicle targeting, to, from or within Golgi +relationship: RO:0002211 GO:0048199 ! regulates vesicle targeting, to, from or within Golgi + [Term] id: GO:0048232 name: male gamete generation def: "Generation of the male gamete; specialised haploid cells produced by meiosis and along with a female gamete takes part in sexual reproduction." [] is_a: GO:0007276 ! gamete generation +[Term] +id: GO:0048240 +name: sperm capacitation +def: "A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium." [] +synonym: "sperm activation" RELATED [] +is_a: GO:0003006 ! developmental process involved in reproduction +is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism +is_a: GO:0048469 ! cell maturation +relationship: BFO:0000050 GO:0007286 ! part of spermatid development + [Term] id: GO:0048285 name: organelle fission @@ -15336,6 +19713,15 @@ is_a: GO:0048856 ! anatomical structure development is_a: GO:0048869 ! cellular developmental process relationship: BFO:0000050 GO:0030154 ! part of cell differentiation +[Term] +id: GO:0048469 +name: cell maturation +def: "A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state." [] +synonym: "functional differentiation" RELATED [] +is_a: GO:0021700 ! developmental maturation +is_a: GO:0048869 ! cellular developmental process +relationship: BFO:0000050 GO:0048468 ! part of cell development + [Term] id: GO:0048511 name: rhythmic process @@ -15367,6 +19753,16 @@ def: "The process in which the anatomical structures of blood vessels are genera is_a: GO:0035239 ! tube morphogenesis relationship: BFO:0000050 GO:0001568 ! part of blood vessel development +[Term] +id: GO:0048515 +name: spermatid differentiation +def: "The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell." [] +synonym: "spermatid cell differentiation" EXACT [] +is_a: GO:0003006 ! developmental process involved in reproduction +is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0007283 ! part of spermatogenesis + [Term] id: GO:0048518 name: positive regulation of biological process @@ -15555,6 +19951,46 @@ synonym: "reproductive process in a multicellular organism" EXACT [] is_a: GO:0022414 ! reproductive process relationship: BFO:0000050 GO:0032504 ! part of multicellular organism reproduction +[Term] +id: GO:0048634 +name: regulation of muscle organ development +def: "Any process that modulates the frequency, rate or extent of muscle development." [] +is_a: GO:2000026 ! regulation of multicellular organismal development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0007517 ! regulates muscle organ development +relationship: RO:0002211 GO:0007517 ! regulates muscle organ development + +[Term] +id: GO:0048635 +name: negative regulation of muscle organ development +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development." [] +synonym: "down regulation of muscle development" EXACT [] +synonym: "down-regulation of muscle development" EXACT [] +synonym: "downregulation of muscle development" EXACT [] +synonym: "inhibition of muscle development" NARROW [] +is_a: GO:0048634 ! regulation of muscle organ development +is_a: GO:0051093 ! negative regulation of developmental process +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0007517 ! negatively regulates muscle organ development +relationship: RO:0002212 GO:0007517 ! negatively regulates muscle organ development + +[Term] +id: GO:0048636 +name: positive regulation of muscle organ development +def: "Any process that activates, maintains or increases the rate of muscle development." [] +synonym: "activation of muscle development" NARROW [] +synonym: "stimulation of muscle development" NARROW [] +synonym: "up regulation of muscle development" EXACT [] +synonym: "up-regulation of muscle development" EXACT [] +synonym: "upregulation of muscle development" EXACT [] +is_a: GO:0048634 ! regulation of muscle organ development +is_a: GO:0051094 ! positive regulation of developmental process +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0007517 ! positively regulates muscle organ development +relationship: RO:0002213 GO:0007517 ! positively regulates muscle organ development + [Term] id: GO:0048646 name: anatomical structure formation involved in morphogenesis @@ -15563,6 +19999,13 @@ synonym: "formation of an anatomical structure involved in morphogenesis" EXACT is_a: GO:0032502 ! developmental process relationship: BFO:0000050 GO:0009653 ! part of anatomical structure morphogenesis +[Term] +id: GO:0048699 +name: generation of neurons +def: "The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons." [] +synonym: "neuron generation" EXACT [] +is_a: GO:0022008 ! neurogenesis + [Term] id: GO:0048729 name: tissue morphogenesis @@ -15583,6 +20026,14 @@ name: gland development def: "The process whose specific outcome is the progression of a gland over time, from its formation to the mature structure. A gland is an organ specialised for secretion." [] is_a: GO:0048513 ! animal organ development +[Term] +id: GO:0048738 +name: cardiac muscle tissue development +def: "The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure." [] +synonym: "heart muscle development" EXACT [] +is_a: GO:0014706 ! striated muscle tissue development +relationship: BFO:0000050 GO:0007507 ! part of heart development + [Term] id: GO:0048762 name: mesenchymal cell differentiation @@ -15590,6 +20041,12 @@ def: "The process in which a relatively unspecialized cell acquires specialized is_a: GO:0030154 ! cell differentiation relationship: BFO:0000050 GO:0060485 ! part of mesenchyme development +[Term] +id: GO:0048770 +name: pigment granule +def: "A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes." [] +is_a: GO:0031410 ! cytoplasmic vesicle + [Term] id: GO:0048771 name: tissue remodeling @@ -15674,6 +20131,13 @@ def: "Any biological process involved in the maintenance of the steady-state num is_a: GO:0001894 ! tissue homeostasis is_a: GO:0048872 ! homeostasis of number of cells +[Term] +id: GO:0048875 +name: chemical homeostasis within a tissue +def: "Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue." [] +is_a: GO:0001894 ! tissue homeostasis +is_a: GO:0048878 ! chemical homeostasis + [Term] id: GO:0048878 name: chemical homeostasis @@ -15805,6 +20269,50 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0050673 ! negatively regulates epithelial cell proliferation relationship: RO:0002212 GO:0050673 ! negatively regulates epithelial cell proliferation +[Term] +id: GO:0050708 +name: regulation of protein secretion +def: "Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell." [] +is_a: GO:0002791 ! regulation of peptide secretion +is_a: GO:0051223 ! regulation of protein transport +is_a: GO:1903530 ! regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0009306 ! regulates protein secretion +relationship: RO:0002211 GO:0009306 ! regulates protein secretion + +[Term] +id: GO:0050709 +name: negative regulation of protein secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell." [] +synonym: "down regulation of protein secretion" EXACT [] +synonym: "down-regulation of protein secretion" EXACT [] +synonym: "downregulation of protein secretion" EXACT [] +synonym: "inhibition of protein secretion" NARROW [] +is_a: GO:0002792 ! negative regulation of peptide secretion +is_a: GO:0050708 ! regulation of protein secretion +is_a: GO:0051224 ! negative regulation of protein transport +is_a: GO:1903531 ! negative regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0009306 ! negatively regulates protein secretion +relationship: RO:0002212 GO:0009306 ! negatively regulates protein secretion + +[Term] +id: GO:0050714 +name: positive regulation of protein secretion +def: "Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell." [] +synonym: "activation of protein secretion" NARROW [] +synonym: "stimulation of protein secretion" NARROW [] +synonym: "up regulation of protein secretion" EXACT [] +synonym: "up-regulation of protein secretion" EXACT [] +synonym: "upregulation of protein secretion" EXACT [] +is_a: GO:0002793 ! positive regulation of peptide secretion +is_a: GO:0050708 ! regulation of protein secretion +is_a: GO:0051222 ! positive regulation of protein transport +is_a: GO:1903532 ! positive regulation of secretion by cell +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0009306 ! positively regulates protein secretion +relationship: RO:0002213 GO:0009306 ! positively regulates protein secretion + [Term] id: GO:0050727 name: regulation of inflammatory response @@ -15929,6 +20437,48 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006909 ! positively regulates phagocytosis relationship: RO:0002213 GO:0006909 ! positively regulates phagocytosis +[Term] +id: GO:0050767 +name: regulation of neurogenesis +def: "Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system." [] +is_a: GO:0051960 ! regulation of nervous system development +is_a: GO:0060284 ! regulation of cell development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0022008 ! regulates neurogenesis +relationship: BFO:0000050 GO:0048699 ! part of generation of neurons +relationship: RO:0002211 GO:0022008 ! regulates neurogenesis + +[Term] +id: GO:0050768 +name: negative regulation of neurogenesis +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system." [] +synonym: "down regulation of neurogenesis" EXACT [] +synonym: "down-regulation of neurogenesis" EXACT [] +synonym: "downregulation of neurogenesis" EXACT [] +synonym: "inhibition of neurogenesis" NARROW [] +is_a: GO:0010721 ! negative regulation of cell development +is_a: GO:0050767 ! regulation of neurogenesis +is_a: GO:0051961 ! negative regulation of nervous system development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0022008 ! negatively regulates neurogenesis +relationship: RO:0002212 GO:0022008 ! negatively regulates neurogenesis + +[Term] +id: GO:0050769 +name: positive regulation of neurogenesis +def: "Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system." [] +synonym: "activation of neurogenesis" NARROW [] +synonym: "stimulation of neurogenesis" NARROW [] +synonym: "up regulation of neurogenesis" EXACT [] +synonym: "up-regulation of neurogenesis" EXACT [] +synonym: "upregulation of neurogenesis" EXACT [] +is_a: GO:0010720 ! positive regulation of cell development +is_a: GO:0050767 ! regulation of neurogenesis +is_a: GO:0051962 ! positive regulation of nervous system development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0022008 ! positively regulates neurogenesis +relationship: RO:0002213 GO:0022008 ! positively regulates neurogenesis + [Term] id: GO:0050776 name: regulation of immune response @@ -16019,6 +20569,16 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0007610 ! regulates behavior relationship: RO:0002211 GO:0007610 ! regulates behavior +[Term] +id: GO:0050796 +name: regulation of insulin secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of insulin." [] +is_a: GO:0050708 ! regulation of protein secretion +is_a: GO:0090276 ! regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030073 ! regulates insulin secretion +relationship: RO:0002211 GO:0030073 ! regulates insulin secretion + [Term] id: GO:0050801 name: ion homeostasis @@ -16156,6 +20716,18 @@ intersection_of: GO:0065007 ! biological regulation intersection_of: RO:0002211 GO:0042110 ! regulates T cell activation relationship: RO:0002211 GO:0042110 ! regulates T cell activation +[Term] +id: GO:0050864 +name: regulation of B cell activation +def: "Any process that modulates the frequency, rate or extent of B cell activation." [] +synonym: "regulation of B lymphocyte activation" EXACT [] +synonym: "regulation of B-cell activation" EXACT [] +synonym: "regulation of B-lymphocyte activation" EXACT [] +is_a: GO:0051249 ! regulation of lymphocyte activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0042113 ! regulates B cell activation +relationship: RO:0002211 GO:0042113 ! regulates B cell activation + [Term] id: GO:0050865 name: regulation of cell activation @@ -16212,6 +20784,23 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0042110 ! negatively regulates T cell activation relationship: RO:0002212 GO:0042110 ! negatively regulates T cell activation +[Term] +id: GO:0050869 +name: negative regulation of B cell activation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation." [] +synonym: "down regulation of B cell activation" EXACT [] +synonym: "down-regulation of B cell activation" EXACT [] +synonym: "downregulation of B cell activation" EXACT [] +synonym: "inhibition of B cell activation" NARROW [] +synonym: "negative regulation of B lymphocyte activation" EXACT [] +synonym: "negative regulation of B-cell activation" EXACT [] +synonym: "negative regulation of B-lymphocyte activation" EXACT [] +is_a: GO:0050864 ! regulation of B cell activation +is_a: GO:0051250 ! negative regulation of lymphocyte activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0042113 ! negatively regulates B cell activation +relationship: RO:0002212 GO:0042113 ! negatively regulates B cell activation + [Term] id: GO:0050870 name: positive regulation of T cell activation @@ -16231,6 +20820,24 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0042110 ! positively regulates T cell activation relationship: RO:0002213 GO:0042110 ! positively regulates T cell activation +[Term] +id: GO:0050871 +name: positive regulation of B cell activation +def: "Any process that activates or increases the frequency, rate or extent of B cell activation." [] +synonym: "activation of B cell activation" NARROW [] +synonym: "positive regulation of B lymphocyte activation" EXACT [] +synonym: "positive regulation of B-cell activation" EXACT [] +synonym: "positive regulation of B-lymphocyte activation" EXACT [] +synonym: "stimulation of B cell activation" NARROW [] +synonym: "up regulation of B cell activation" EXACT [] +synonym: "up-regulation of B cell activation" EXACT [] +synonym: "upregulation of B cell activation" EXACT [] +is_a: GO:0050864 ! regulation of B cell activation +is_a: GO:0051251 ! positive regulation of lymphocyte activation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0042113 ! positively regulates B cell activation +relationship: RO:0002213 GO:0042113 ! positively regulates B cell activation + [Term] id: GO:0050877 name: nervous system process @@ -16296,6 +20903,18 @@ def: "Any process that results in a change in state or activity of a cell or an synonym: "physiological response to stimulus" EXACT [] is_a: GO:0008150 ! biological_process +[Term] +id: GO:0050900 +name: leukocyte migration +def: "The movement of a leukocyte within or between different tissues and organs of the body." [] +synonym: "immune cell migration" EXACT [] +synonym: "immune cell trafficking" EXACT [] +synonym: "leucocyte migration" EXACT [] +synonym: "leucocyte trafficking" EXACT [] +synonym: "leukocyte trafficking" EXACT [] +is_a: GO:0002376 ! immune system process +is_a: GO:0016477 ! cell migration + [Term] id: GO:0050905 name: neuromuscular process @@ -16304,6 +20923,36 @@ synonym: "neuromotor process" EXACT [] synonym: "neuromuscular physiological process" EXACT [] is_a: GO:0050877 ! nervous system process +[Term] +id: GO:0050906 +name: detection of stimulus involved in sensory perception +def: "The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal." [] +synonym: "sensory detection of stimulus" EXACT [] +synonym: "sensory perception, sensory transduction of stimulus" EXACT [] +synonym: "sensory perception, stimulus detection" EXACT [] +synonym: "sensory transduction" EXACT [] +is_a: GO:0051606 ! detection of stimulus +intersection_of: GO:0051606 ! detection of stimulus +intersection_of: BFO:0000050 GO:0007600 ! part of sensory perception +relationship: BFO:0000050 GO:0007600 ! part of sensory perception + +[Term] +id: GO:0050908 +name: detection of light stimulus involved in visual perception +def: "The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal." [] +synonym: "sensory detection of light during visual perception" EXACT [] +synonym: "sensory detection of light stimulus during visual perception" EXACT [] +synonym: "sensory transduction of light during visual perception" EXACT [] +synonym: "sensory transduction of light stimulus during visual perception" EXACT [] +synonym: "visual perception, detection of light stimulus" EXACT [] +synonym: "visual perception, sensory transduction during perception of light" EXACT [] +synonym: "visual perception, sensory transduction of light stimulus" EXACT [] +is_a: GO:0009584 ! detection of visible light +is_a: GO:0050962 ! detection of light stimulus involved in sensory perception +intersection_of: GO:0009583 ! detection of light stimulus +intersection_of: BFO:0000050 GO:0007601 ! part of visual perception +relationship: BFO:0000050 GO:0007601 ! part of visual perception + [Term] id: GO:0050920 name: regulation of chemotaxis @@ -16368,6 +21017,22 @@ synonym: "sensory perception of orientation with respect to gravity" EXACT [] is_a: GO:0007600 ! sensory perception relationship: BFO:0000050 GO:0050885 ! part of neuromuscular process controlling balance +[Term] +id: GO:0050962 +name: detection of light stimulus involved in sensory perception +def: "The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light." [] +synonym: "sensory detection of light stimulus" EXACT [] +synonym: "sensory detection of light stimulus during sensory perception" EXACT [] +synonym: "sensory perception, sensory detection of light stimulus" EXACT [] +synonym: "sensory perception, sensory transduction of light stimulus" EXACT [] +synonym: "sensory transduction of light stimulus" EXACT [] +synonym: "sensory transduction of light stimulus during sensory perception" EXACT [] +is_a: GO:0009583 ! detection of light stimulus +is_a: GO:0050906 ! detection of stimulus involved in sensory perception +intersection_of: GO:0009583 ! detection of light stimulus +intersection_of: BFO:0000050 GO:0007600 ! part of sensory perception +relationship: BFO:0000050 GO:0050953 ! part of sensory perception of light stimulus + [Term] id: GO:0050975 name: sensory perception of touch @@ -16378,6 +21043,56 @@ synonym: "taction" EXACT [] synonym: "tactition" EXACT [] is_a: GO:0050954 ! sensory perception of mechanical stimulus +[Term] +id: GO:0050994 +name: regulation of lipid catabolic process +def: "Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids." [] +synonym: "regulation of lipid breakdown" EXACT [] +synonym: "regulation of lipid catabolism" EXACT [] +synonym: "regulation of lipid degradation" EXACT [] +is_a: GO:0009894 ! regulation of catabolic process +is_a: GO:0019216 ! regulation of lipid metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0016042 ! regulates lipid catabolic process +relationship: RO:0002211 GO:0016042 ! regulates lipid catabolic process + +[Term] +id: GO:0050995 +name: negative regulation of lipid catabolic process +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids." [] +synonym: "down regulation of lipid catabolic process" EXACT [] +synonym: "down-regulation of lipid catabolic process" EXACT [] +synonym: "downregulation of lipid catabolic process" EXACT [] +synonym: "inhibition of lipid catabolic process" NARROW [] +synonym: "negative regulation of lipid breakdown" EXACT [] +synonym: "negative regulation of lipid catabolism" EXACT [] +synonym: "negative regulation of lipid degradation" EXACT [] +is_a: GO:0009895 ! negative regulation of catabolic process +is_a: GO:0045833 ! negative regulation of lipid metabolic process +is_a: GO:0050994 ! regulation of lipid catabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0016042 ! negatively regulates lipid catabolic process +relationship: RO:0002212 GO:0016042 ! negatively regulates lipid catabolic process + +[Term] +id: GO:0050996 +name: positive regulation of lipid catabolic process +def: "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids." [] +synonym: "activation of lipid catabolic process" NARROW [] +synonym: "positive regulation of lipid breakdown" EXACT [] +synonym: "positive regulation of lipid catabolism" EXACT [] +synonym: "positive regulation of lipid degradation" EXACT [] +synonym: "stimulation of lipid catabolic process" NARROW [] +synonym: "up regulation of lipid catabolic process" EXACT [] +synonym: "up-regulation of lipid catabolic process" EXACT [] +synonym: "upregulation of lipid catabolic process" EXACT [] +is_a: GO:0009896 ! positive regulation of catabolic process +is_a: GO:0045834 ! positive regulation of lipid metabolic process +is_a: GO:0050994 ! regulation of lipid catabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0016042 ! positively regulates lipid catabolic process +relationship: RO:0002213 GO:0016042 ! positively regulates lipid catabolic process + [Term] id: GO:0051037 name: regulation of transcription involved in meiotic cell cycle @@ -16709,6 +21424,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0005488 ! negatively regulates binding relationship: RO:0002212 GO:0005488 ! negatively regulates binding +[Term] +id: GO:0051101 +name: regulation of DNA binding +def: "Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid)." [] +is_a: GO:0051098 ! regulation of binding +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0003677 ! regulates DNA binding +relationship: RO:0002211 GO:0003677 ! regulates DNA binding + [Term] id: GO:0051128 name: regulation of cellular component organization @@ -16755,6 +21479,89 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0016043 ! positively regulates cellular component organization relationship: RO:0002213 GO:0016043 ! positively regulates cellular component organization +[Term] +id: GO:0051146 +name: striated muscle cell differentiation +def: "The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle." [] +synonym: "voluntary muscle cell differentiation" NARROW [] +is_a: GO:0042692 ! muscle cell differentiation + +[Term] +id: GO:0051147 +name: regulation of muscle cell differentiation +def: "Any process that modulates the frequency, rate or extent of muscle cell differentiation." [] +is_a: GO:0045595 ! regulation of cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0042692 ! regulates muscle cell differentiation +relationship: RO:0002211 GO:0042692 ! regulates muscle cell differentiation + +[Term] +id: GO:0051148 +name: negative regulation of muscle cell differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation." [] +synonym: "down regulation of muscle cell differentiation" EXACT [] +synonym: "down-regulation of muscle cell differentiation" EXACT [] +synonym: "downregulation of muscle cell differentiation" EXACT [] +synonym: "inhibition of muscle cell differentiation" NARROW [] +is_a: GO:0045596 ! negative regulation of cell differentiation +is_a: GO:0051147 ! regulation of muscle cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0042692 ! negatively regulates muscle cell differentiation +relationship: RO:0002212 GO:0042692 ! negatively regulates muscle cell differentiation + +[Term] +id: GO:0051149 +name: positive regulation of muscle cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of muscle cell differentiation." [] +synonym: "activation of muscle cell differentiation" NARROW [] +synonym: "stimulation of muscle cell differentiation" NARROW [] +synonym: "up regulation of muscle cell differentiation" EXACT [] +synonym: "up-regulation of muscle cell differentiation" EXACT [] +synonym: "upregulation of muscle cell differentiation" EXACT [] +is_a: GO:0045597 ! positive regulation of cell differentiation +is_a: GO:0051147 ! regulation of muscle cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0042692 ! positively regulates muscle cell differentiation +relationship: RO:0002213 GO:0042692 ! positively regulates muscle cell differentiation + +[Term] +id: GO:0051153 +name: regulation of striated muscle cell differentiation +def: "Any process that modulates the frequency, rate or extent of striated muscle cell differentiation." [] +is_a: GO:0051147 ! regulation of muscle cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0051146 ! regulates striated muscle cell differentiation +relationship: RO:0002211 GO:0051146 ! regulates striated muscle cell differentiation + +[Term] +id: GO:0051154 +name: negative regulation of striated muscle cell differentiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation." [] +synonym: "down regulation of striated muscle cell differentiation" EXACT [] +synonym: "down-regulation of striated muscle cell differentiation" EXACT [] +synonym: "downregulation of striated muscle cell differentiation" EXACT [] +synonym: "inhibition of striated muscle cell differentiation" NARROW [] +is_a: GO:0051148 ! negative regulation of muscle cell differentiation +is_a: GO:0051153 ! regulation of striated muscle cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0051146 ! negatively regulates striated muscle cell differentiation +relationship: RO:0002212 GO:0051146 ! negatively regulates striated muscle cell differentiation + +[Term] +id: GO:0051155 +name: positive regulation of striated muscle cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation." [] +synonym: "activation of striated muscle cell differentiation" NARROW [] +synonym: "stimulation of striated muscle cell differentiation" NARROW [] +synonym: "up regulation of striated muscle cell differentiation" EXACT [] +synonym: "up-regulation of striated muscle cell differentiation" EXACT [] +synonym: "upregulation of striated muscle cell differentiation" EXACT [] +is_a: GO:0051149 ! positive regulation of muscle cell differentiation +is_a: GO:0051153 ! regulation of striated muscle cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0051146 ! positively regulates striated muscle cell differentiation +relationship: RO:0002213 GO:0051146 ! positively regulates striated muscle cell differentiation + [Term] id: GO:0051171 name: regulation of nitrogen compound metabolic process @@ -16865,6 +21672,13 @@ def: "The directed movement of vitamins into, out of or within a cell, or betwee synonym: "vitamin or cofactor transport" BROAD [] is_a: GO:0006810 ! transport +[Term] +id: GO:0051181 +name: cofactor transport +def: "The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein." [] +synonym: "vitamin or cofactor transport" BROAD [] +is_a: GO:0006810 ! transport + [Term] id: GO:0051186 name: cofactor metabolic process @@ -16971,6 +21785,61 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0006732 ! negatively regulates coenzyme metabolic process relationship: RO:0002212 GO:0006732 ! negatively regulates coenzyme metabolic process +[Term] +id: GO:0051216 +name: cartilage development +def: "The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate." [] +synonym: "cartilage biogenesis" EXACT [] +synonym: "cartilage biosynthesis" EXACT [] +synonym: "cartilage element development" EXACT [] +synonym: "cartilage formation" EXACT [] +synonym: "cartilage organ development" EXACT [] +synonym: "chondrogenesis" EXACT [] +is_a: GO:0048513 ! animal organ development +relationship: BFO:0000050 GO:0001501 ! part of skeletal system development +relationship: BFO:0000050 GO:0061448 ! part of connective tissue development + +[Term] +id: GO:0051222 +name: positive regulation of protein transport +def: "Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +synonym: "activation of protein transport" NARROW [] +synonym: "stimulation of protein transport" NARROW [] +synonym: "up regulation of protein transport" EXACT [] +synonym: "up-regulation of protein transport" EXACT [] +synonym: "upregulation of protein transport" EXACT [] +is_a: GO:0051050 ! positive regulation of transport +is_a: GO:0051223 ! regulation of protein transport +is_a: GO:1904951 ! positive regulation of establishment of protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0015031 ! positively regulates protein transport +relationship: RO:0002213 GO:0015031 ! positively regulates protein transport + +[Term] +id: GO:0051223 +name: regulation of protein transport +def: "Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0070201 ! regulation of establishment of protein localization +is_a: GO:0090087 ! regulation of peptide transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0015031 ! regulates protein transport +relationship: RO:0002211 GO:0015031 ! regulates protein transport + +[Term] +id: GO:0051224 +name: negative regulation of protein transport +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +synonym: "down regulation of protein transport" EXACT [] +synonym: "down-regulation of protein transport" EXACT [] +synonym: "downregulation of protein transport" EXACT [] +synonym: "inhibition of protein transport" NARROW [] +is_a: GO:0051051 ! negative regulation of transport +is_a: GO:0051223 ! regulation of protein transport +is_a: GO:1904950 ! negative regulation of establishment of protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0015031 ! negatively regulates protein transport +relationship: RO:0002212 GO:0015031 ! negatively regulates protein transport + [Term] id: GO:0051234 name: establishment of localization @@ -17214,6 +22083,31 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006928 ! positively regulates movement of cell or subcellular component relationship: RO:0002213 GO:0006928 ! positively regulates movement of cell or subcellular component +[Term] +id: GO:0051276 +name: chromosome organization +def: "A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome." [] +synonym: "chromosome organisation" EXACT [] +synonym: "chromosome organization and biogenesis" RELATED [] +synonym: "maintenance of genome integrity" RELATED [] +synonym: "nuclear genome maintenance" RELATED [] +is_a: GO:0006996 ! organelle organization + +[Term] +id: GO:0051301 +name: cell division +def: "The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells." [] +is_a: GO:0009987 ! cellular process + +[Term] +id: GO:0051302 +name: regulation of cell division +def: "Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells." [] +is_a: GO:0050794 ! regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0051301 ! regulates cell division +relationship: RO:0002211 GO:0051301 ! regulates cell division + [Term] id: GO:0051321 name: meiotic cell cycle @@ -17581,6 +22475,50 @@ 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:0051493 +name: regulation of cytoskeleton organization +def: "Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures." [] +synonym: "regulation of cytoskeleton organisation" EXACT [] +synonym: "regulation of cytoskeleton organization and biogenesis" RELATED [] +is_a: GO:0033043 ! regulation of organelle organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0007010 ! regulates cytoskeleton organization +relationship: RO:0002211 GO:0007010 ! regulates cytoskeleton organization + +[Term] +id: GO:0051494 +name: negative regulation of cytoskeleton organization +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures." [] +synonym: "down regulation of cytoskeleton organization" EXACT [] +synonym: "down-regulation of cytoskeleton organization" EXACT [] +synonym: "downregulation of cytoskeleton organization" EXACT [] +synonym: "inhibition of cytoskeleton organization" NARROW [] +synonym: "negative regulation of cytoskeleton organisation" EXACT [] +synonym: "negative regulation of cytoskeleton organization and biogenesis" RELATED [] +is_a: GO:0010639 ! negative regulation of organelle organization +is_a: GO:0051493 ! regulation of cytoskeleton organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0007010 ! negatively regulates cytoskeleton organization +relationship: RO:0002212 GO:0007010 ! negatively regulates cytoskeleton organization + +[Term] +id: GO:0051495 +name: positive regulation of cytoskeleton organization +def: "Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures." [] +synonym: "activation of cytoskeleton organization" NARROW [] +synonym: "positive regulation of cytoskeleton organisation" EXACT [] +synonym: "positive regulation of cytoskeleton organization and biogenesis" RELATED [] +synonym: "stimulation of cytoskeleton organization" NARROW [] +synonym: "up regulation of cytoskeleton organization" EXACT [] +synonym: "up-regulation of cytoskeleton organization" EXACT [] +synonym: "upregulation of cytoskeleton organization" EXACT [] +is_a: GO:0010638 ! positive regulation of organelle organization +is_a: GO:0051493 ! regulation of cytoskeleton organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0007010 ! positively regulates cytoskeleton organization +relationship: RO:0002213 GO:0007010 ! positively regulates cytoskeleton organization + [Term] id: GO:0051560 name: mitochondrial calcium ion homeostasis @@ -17596,6 +22534,44 @@ intersection_of: GO:0055074 ! calcium ion homeostasis intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion relationship: BFO:0000066 GO:0005739 ! occurs in mitochondrion +[Term] +id: GO:0051588 +name: regulation of neurotransmitter transport +def: "Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0051049 ! regulation of transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006836 ! regulates neurotransmitter transport +relationship: RO:0002211 GO:0006836 ! regulates neurotransmitter transport + +[Term] +id: GO:0051589 +name: negative regulation of neurotransmitter transport +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +synonym: "down regulation of neurotransmitter transport" EXACT [] +synonym: "down-regulation of neurotransmitter transport" EXACT [] +synonym: "downregulation of neurotransmitter transport" EXACT [] +synonym: "inhibition of neurotransmitter transport" NARROW [] +is_a: GO:0051051 ! negative regulation of transport +is_a: GO:0051588 ! regulation of neurotransmitter transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006836 ! negatively regulates neurotransmitter transport +relationship: RO:0002212 GO:0006836 ! negatively regulates neurotransmitter transport + +[Term] +id: GO:0051590 +name: positive regulation of neurotransmitter transport +def: "Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +synonym: "activation of neurotransmitter transport" NARROW [] +synonym: "stimulation of neurotransmitter transport" NARROW [] +synonym: "up regulation of neurotransmitter transport" EXACT [] +synonym: "up-regulation of neurotransmitter transport" EXACT [] +synonym: "upregulation of neurotransmitter transport" EXACT [] +is_a: GO:0051050 ! positive regulation of transport +is_a: GO:0051588 ! regulation of neurotransmitter transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006836 ! positively regulates neurotransmitter transport +relationship: RO:0002213 GO:0006836 ! positively regulates neurotransmitter transport + [Term] id: GO:0051604 name: protein maturation @@ -17603,6 +22579,31 @@ def: "Any process leading to the attainment of the full functional capacity of a is_a: GO:0019538 ! protein metabolic process relationship: BFO:0000050 GO:0010467 ! part of gene expression +[Term] +id: GO:0051606 +name: detection of stimulus +def: "The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal." [] +synonym: "perception of stimulus" RELATED [] +synonym: "stimulus detection" EXACT [] +synonym: "stimulus sensing" RELATED [] +is_a: GO:0050896 ! response to stimulus + +[Term] +id: GO:0051608 +name: histamine transport +def: "The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans." [] +is_a: GO:0006836 ! neurotransmitter transport +is_a: GO:0015696 ! ammonium transport +is_a: GO:0045117 ! azole transport + +[Term] +id: GO:0051640 +name: organelle localization +def: "Any process in which an organelle is transported to, and/or maintained in, a specific location." [] +synonym: "establishment and maintenance of organelle localization" EXACT [] +synonym: "organelle localisation" EXACT [] +is_a: GO:0051641 ! cellular localization + [Term] id: GO:0051641 name: cellular localization @@ -17616,6 +22617,15 @@ synonym: "single organism cellular localization" EXACT [] synonym: "single-organism cellular localization" RELATED [] is_a: GO:0051179 ! localization +[Term] +id: GO:0051648 +name: vesicle localization +def: "Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location." [] +synonym: "cytoplasmic vesicle localization" EXACT [] +synonym: "establishment and maintenance of vesicle localization" EXACT [] +synonym: "vesicle localisation" EXACT [] +is_a: GO:0051640 ! organelle localization + [Term] id: GO:0051649 name: establishment of localization in cell @@ -17631,6 +22641,23 @@ intersection_of: BFO:0000066 GO:0005623 ! occurs in cell relationship: BFO:0000050 GO:0051641 ! part of cellular localization relationship: BFO:0000066 GO:0005623 ! occurs in cell +[Term] +id: GO:0051650 +name: establishment of vesicle localization +def: "The directed movement of a vesicle to a specific location." [] +synonym: "establishment of vesicle localisation" EXACT [] +is_a: GO:0051648 ! vesicle localization +is_a: GO:0051649 ! establishment of localization in cell +is_a: GO:0051656 ! establishment of organelle localization + +[Term] +id: GO:0051656 +name: establishment of organelle localization +def: "The directed movement of an organelle to a specific location." [] +synonym: "establishment of organelle localisation" EXACT [] +is_a: GO:0051234 ! establishment of localization +is_a: GO:0051640 ! organelle localization + [Term] id: GO:0051668 name: localization within membrane @@ -17684,6 +22711,13 @@ synonym: "behavioural interaction with other organism" EXACT [] is_a: GO:0007610 ! behavior is_a: GO:0051704 ! multi-organism process +[Term] +id: GO:0051707 +name: response to other organism +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 stimulus from another living organism." [] +is_a: GO:0043207 ! response to external biotic stimulus +is_a: GO:0051704 ! multi-organism process + [Term] id: GO:0051716 name: cellular response to stimulus @@ -17708,6 +22742,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0007049 ! regulates cell cycle relationship: RO:0002211 GO:0007049 ! regulates cell cycle +[Term] +id: GO:0051781 +name: positive regulation of cell division +def: "Any process that activates or increases the frequency, rate or extent of cell division." [] +synonym: "activation of cell division" NARROW [] +synonym: "stimulation of cell division" NARROW [] +synonym: "up regulation of cell division" EXACT [] +synonym: "up-regulation of cell division" EXACT [] +synonym: "upregulation of cell division" EXACT [] +is_a: GO:0048522 ! positive regulation of cellular process +is_a: GO:0051302 ! regulation of cell division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0051301 ! positively regulates cell division +relationship: RO:0002213 GO:0051301 ! positively regulates cell division + +[Term] +id: GO:0051782 +name: negative regulation of cell division +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of cell division." [] +synonym: "down regulation of cell division" EXACT [] +synonym: "down-regulation of cell division" EXACT [] +synonym: "downregulation of cell division" EXACT [] +synonym: "inhibition of cell division" NARROW [] +is_a: GO:0048523 ! negative regulation of cellular process +is_a: GO:0051302 ! regulation of cell division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0051301 ! negatively regulates cell division +relationship: RO:0002212 GO:0051301 ! negatively regulates cell division + [Term] id: GO:0051783 name: regulation of nuclear division @@ -17936,6 +22999,91 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0007399 ! positively regulates nervous system development relationship: RO:0002213 GO:0007399 ! positively regulates nervous system development +[Term] +id: GO:0051969 +name: regulation of transmission of nerve impulse +def: "Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation." [] +synonym: "regulation of conduction of nerve impulse" EXACT [] +is_a: GO:0010646 ! regulation of cell communication +is_a: GO:0023051 ! regulation of signaling +is_a: GO:0031644 ! regulation of neurological system process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0019226 ! regulates transmission of nerve impulse +relationship: RO:0002211 GO:0019226 ! regulates transmission of nerve impulse + +[Term] +id: GO:0051970 +name: negative regulation of transmission of nerve impulse +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation." [] +synonym: "down regulation of transmission of nerve impulse" EXACT [] +synonym: "down-regulation of transmission of nerve impulse" EXACT [] +synonym: "downregulation of transmission of nerve impulse" EXACT [] +synonym: "inhibition of transmission of nerve impulse" NARROW [] +synonym: "negative regulation of conduction of nerve impulse" EXACT [] +is_a: GO:0010648 ! negative regulation of cell communication +is_a: GO:0023057 ! negative regulation of signaling +is_a: GO:0031645 ! negative regulation of neurological system process +is_a: GO:0051969 ! regulation of transmission of nerve impulse +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0019226 ! negatively regulates transmission of nerve impulse +relationship: RO:0002212 GO:0019226 ! negatively regulates transmission of nerve impulse + +[Term] +id: GO:0051971 +name: positive regulation of transmission of nerve impulse +def: "Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation." [] +synonym: "activation of transmission of nerve impulse" NARROW [] +synonym: "positive regulation of conduction of nerve impulse" EXACT [] +synonym: "stimulation of transmission of nerve impulse" NARROW [] +synonym: "up regulation of transmission of nerve impulse" EXACT [] +synonym: "up-regulation of transmission of nerve impulse" EXACT [] +synonym: "upregulation of transmission of nerve impulse" EXACT [] +is_a: GO:0010647 ! positive regulation of cell communication +is_a: GO:0023056 ! positive regulation of signaling +is_a: GO:0031646 ! positive regulation of neurological system process +is_a: GO:0051969 ! regulation of transmission of nerve impulse +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0019226 ! positively regulates transmission of nerve impulse +relationship: RO:0002213 GO:0019226 ! positively regulates transmission of nerve impulse + +[Term] +id: GO:0051983 +name: regulation of chromosome segregation +def: "Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets." [] +is_a: GO:0050794 ! regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0007059 ! regulates chromosome segregation +relationship: RO:0002211 GO:0007059 ! regulates chromosome segregation + +[Term] +id: GO:0051984 +name: positive regulation of chromosome segregation +def: "Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets." [] +synonym: "activation of chromosome segregation" NARROW [] +synonym: "stimulation of chromosome segregation" NARROW [] +synonym: "up regulation of chromosome segregation" EXACT [] +synonym: "up-regulation of chromosome segregation" EXACT [] +synonym: "upregulation of chromosome segregation" EXACT [] +is_a: GO:0048522 ! positive regulation of cellular process +is_a: GO:0051983 ! regulation of chromosome segregation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0007059 ! positively regulates chromosome segregation +relationship: RO:0002213 GO:0007059 ! positively regulates chromosome segregation + +[Term] +id: GO:0051985 +name: negative regulation of chromosome segregation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets." [] +synonym: "down regulation of chromosome segregation" EXACT [] +synonym: "down-regulation of chromosome segregation" EXACT [] +synonym: "downregulation of chromosome segregation" EXACT [] +synonym: "inhibition of chromosome segregation" NARROW [] +is_a: GO:0048523 ! negative regulation of cellular process +is_a: GO:0051983 ! regulation of chromosome segregation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0007059 ! negatively regulates chromosome segregation +relationship: RO:0002212 GO:0007059 ! negatively regulates chromosome segregation + [Term] id: GO:0052547 name: regulation of peptidase activity @@ -17968,6 +23116,57 @@ is_a: GO:0046483 ! heterocycle metabolic process is_a: GO:1901360 ! organic cyclic compound metabolic process is_a: GO:1901564 ! organonitrogen compound metabolic process +[Term] +id: GO:0055007 +name: cardiac muscle cell differentiation +def: "The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction." [] +synonym: "cardiomyocyte differentiation" EXACT [] +synonym: "heart muscle cell differentiation" RELATED [] +is_a: GO:0035051 ! cardiocyte differentiation +is_a: GO:0051146 ! striated muscle cell differentiation +relationship: BFO:0000050 GO:0048738 ! part of cardiac muscle tissue development + +[Term] +id: GO:0055024 +name: regulation of cardiac muscle tissue development +def: "Any process that modulates the frequency, rate or extent of cardiac muscle tissue development." [] +synonym: "regulation of heart muscle development" EXACT [] +is_a: GO:0016202 ! regulation of striated muscle tissue development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0048738 ! regulates cardiac muscle tissue development +relationship: RO:0002211 GO:0048738 ! regulates cardiac muscle tissue development + +[Term] +id: GO:0055025 +name: positive regulation of cardiac muscle tissue development +def: "Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development." [] +synonym: "activation of cardiac muscle development" NARROW [] +synonym: "positive regulation of heart muscle development" EXACT [] +synonym: "stimulation of cardiac muscle development" NARROW [] +synonym: "up regulation of cardiac muscle development" EXACT [] +synonym: "up-regulation of cardiac muscle development" EXACT [] +synonym: "upregulation of cardiac muscle development" EXACT [] +is_a: GO:0045844 ! positive regulation of striated muscle tissue development +is_a: GO:0055024 ! regulation of cardiac muscle tissue development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0048738 ! positively regulates cardiac muscle tissue development +relationship: RO:0002213 GO:0048738 ! positively regulates cardiac muscle tissue development + +[Term] +id: GO:0055026 +name: negative regulation of cardiac muscle tissue development +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development." [] +synonym: "down regulation of cardiac muscle development" EXACT [] +synonym: "down-regulation of cardiac muscle development" EXACT [] +synonym: "downregulation of cardiac muscle development" EXACT [] +synonym: "inhibition of cardiac muscle development" NARROW [] +synonym: "negative regulation of heart muscle development" EXACT [] +is_a: GO:0045843 ! negative regulation of striated muscle tissue development +is_a: GO:0055024 ! regulation of cardiac muscle tissue development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0048738 ! negatively regulates cardiac muscle tissue development +relationship: RO:0002212 GO:0048738 ! negatively regulates cardiac muscle tissue development + [Term] id: GO:0055065 name: metal ion homeostasis @@ -18186,6 +23385,15 @@ name: molecular transducer activity def: "A compound molecular function in which an effector function is controlled by one or more regulatory components." [] is_a: GO:0004871 ! signal transducer activity +[Term] +id: GO:0060097 +name: cytoskeletal rearrangement involved in phagocytosis, engulfment +def: "The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis." [] +is_a: GO:0007010 ! cytoskeleton organization +intersection_of: GO:0007010 ! cytoskeleton organization +intersection_of: BFO:0000050 GO:0006911 ! part of phagocytosis, engulfment +relationship: BFO:0000050 GO:0006911 ! part of phagocytosis, engulfment + [Term] id: GO:0060099 name: regulation of phagocytosis, engulfment @@ -18218,6 +23426,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0006911 ! negatively regulates phagocytosis, engulfment relationship: RO:0002212 GO:0006911 ! negatively regulates phagocytosis, engulfment +[Term] +id: GO:0060123 +name: regulation of growth hormone secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell." [] +is_a: GO:0090276 ! regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030252 ! regulates growth hormone secretion +relationship: RO:0002211 GO:0030252 ! regulates growth hormone secretion + +[Term] +id: GO:0060124 +name: positive regulation of growth hormone secretion +def: "Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell." [] +is_a: GO:0060123 ! regulation of growth hormone secretion +is_a: GO:0090277 ! positive regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030252 ! positively regulates growth hormone secretion +relationship: RO:0002213 GO:0030252 ! positively regulates growth hormone secretion + +[Term] +id: GO:0060125 +name: negative regulation of growth hormone secretion +def: "Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell." [] +is_a: GO:0060123 ! regulation of growth hormone secretion +is_a: GO:0090278 ! negative regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030252 ! negatively regulates growth hormone secretion +relationship: RO:0002212 GO:0030252 ! negatively regulates growth hormone secretion + [Term] id: GO:0060136 name: embryonic process involved in female pregnancy @@ -18272,6 +23509,27 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0007631 ! regulates feeding behavior relationship: RO:0002211 GO:0007631 ! regulates feeding behavior +[Term] +id: GO:0060271 +name: cilium assembly +def: "The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole." [] +synonym: "ciliogenesis" EXACT [] +synonym: "cilium assembly" EXACT [] +synonym: "cilium biogenesis" RELATED [] +synonym: "cilium formation" EXACT [] +synonym: "cilium morphogenesis" RELATED [] +synonym: "cilium organization" RELATED [] +synonym: "microtubule-based flagellum assembly" EXACT [] +is_a: GO:0044782 ! cilium organization +is_a: GO:0070925 ! organelle assembly +is_a: GO:0120031 ! plasma membrane bounded cell projection assembly +relationship: BFO:0000051 GO:0035082 ! has_part axoneme assembly +relationship: BFO:0000051 GO:0035735 ! has_part intraciliary transport involved in cilium assembly +relationship: BFO:0000051 GO:0061512 ! has_part protein localization to cilium +relationship: BFO:0000051 GO:0097711 ! has_part ciliary basal body-plasma membrane docking +relationship: BFO:0000051 GO:0097712 ! has_part vesicle targeting, trans-Golgi to periciliary membrane compartment +relationship: BFO:0000051 GO:1905349 ! has_part ciliary transition zone assembly + [Term] id: GO:0060284 name: regulation of cell development @@ -18319,6 +23577,14 @@ name: head development def: "The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body." [] is_a: GO:0048856 ! anatomical structure development +[Term] +id: GO:0060326 +name: cell chemotaxis +def: "The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis)." [] +is_a: GO:0006935 ! chemotaxis +is_a: GO:0016477 ! cell migration +relationship: BFO:0000050 GO:0070887 ! part of cellular response to chemical stimulus + [Term] id: GO:0060341 name: regulation of cellular localization @@ -18336,6 +23602,41 @@ def: "The process whose specific outcome is the progression of bone over time, f is_a: GO:0048513 ! animal organ development relationship: BFO:0000050 GO:0001501 ! part of skeletal system development +[Term] +id: GO:0060374 +name: mast cell differentiation +def: "The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation." [] +is_a: GO:0002573 ! myeloid leukocyte differentiation + +[Term] +id: GO:0060375 +name: regulation of mast cell differentiation +def: "Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation." [] +is_a: GO:0002761 ! regulation of myeloid leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0060374 ! regulates mast cell differentiation +relationship: RO:0002211 GO:0060374 ! regulates mast cell differentiation + +[Term] +id: GO:0060376 +name: positive regulation of mast cell differentiation +def: "Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation." [] +is_a: GO:0002763 ! positive regulation of myeloid leukocyte differentiation +is_a: GO:0060375 ! regulation of mast cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0060374 ! positively regulates mast cell differentiation +relationship: RO:0002213 GO:0060374 ! positively regulates mast cell differentiation + +[Term] +id: GO:0060377 +name: negative regulation of mast cell differentiation +def: "Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation." [] +is_a: GO:0002762 ! negative regulation of myeloid leukocyte differentiation +is_a: GO:0060375 ! regulation of mast cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0060374 ! negatively regulates mast cell differentiation +relationship: RO:0002212 GO:0060374 ! negatively regulates mast cell differentiation + [Term] id: GO:0060405 name: regulation of penile erection @@ -18408,6 +23709,17 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0009566 ! negatively regulates fertilization relationship: RO:0002212 GO:0009566 ! negatively regulates fertilization +[Term] +id: GO:0060474 +name: positive regulation of flagellated sperm motility involved in capacitation +def: "The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence." [] +synonym: "positive regulation of sperm motility involved in capacitation" RELATED [] +is_a: GO:0022414 ! reproductive process +is_a: GO:1902093 ! positive regulation of flagellated sperm motility +intersection_of: GO:1902093 ! positive regulation of flagellated sperm motility +intersection_of: BFO:0000050 GO:0048240 ! part of sperm capacitation +relationship: BFO:0000050 GO:0048240 ! part of sperm capacitation + [Term] id: GO:0060485 name: mesenchyme development @@ -18416,6 +23728,33 @@ synonym: "mesenchymal development" EXACT [] is_a: GO:0009888 ! tissue development relationship: BFO:0000050 GO:0048513 ! part of animal organ development +[Term] +id: GO:0060491 +name: regulation of cell projection assembly +def: "Any process that modulates the rate, frequency, or extent of cell projection assembly." [] +synonym: "regulation of cell projection formation" RELATED [] +is_a: GO:0031344 ! regulation of cell projection organization +is_a: GO:0044087 ! regulation of cellular component biogenesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030031 ! regulates cell projection assembly +relationship: RO:0002211 GO:0030031 ! regulates cell projection assembly + +[Term] +id: GO:0060537 +name: muscle tissue development +def: "The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers." [] +is_a: GO:0009888 ! tissue development + +[Term] +id: GO:0060548 +name: negative regulation of cell death +def: "Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death." [] +is_a: GO:0010941 ! regulation of cell death +is_a: GO:0048523 ! negative regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0008219 ! negatively regulates cell death +relationship: RO:0002212 GO:0008219 ! negatively regulates cell death + [Term] id: GO:0060556 name: regulation of vitamin D biosynthetic process @@ -18439,6 +23778,18 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0042368 ! positively regulates vitamin D biosynthetic process relationship: RO:0002213 GO:0042368 ! positively regulates vitamin D biosynthetic process +[Term] +id: GO:0060561 +name: apoptotic process involved in morphogenesis +def: "Any apoptotic process that contributes to the shaping of an anatomical structure." [] +synonym: "apoptosis involved in development" RELATED [] +synonym: "apoptosis involved in morphogenesis" NARROW [] +synonym: "morphogenetic apoptosis" RELATED [] +is_a: GO:1902742 ! apoptotic process involved in development +intersection_of: GO:0006915 ! apoptotic process +intersection_of: BFO:0000050 GO:0009653 ! part of anatomical structure morphogenesis +relationship: BFO:0000050 GO:0009653 ! part of anatomical structure morphogenesis + [Term] id: GO:0060562 name: epithelial tube morphogenesis @@ -18446,6 +23797,14 @@ def: "The process in which the anatomical structures of a tube are generated and is_a: GO:0002009 ! morphogenesis of an epithelium is_a: GO:0035239 ! tube morphogenesis +[Term] +id: GO:0060591 +name: chondroblast differentiation +def: "The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes." [] +synonym: "chondrocyte progenitor cell differentiation" RELATED [] +is_a: GO:0030154 ! cell differentiation +relationship: BFO:0000050 GO:0051216 ! part of cartilage development + [Term] id: GO:0060606 name: tube closure @@ -18462,6 +23821,15 @@ intersection_of: GO:0048762 ! mesenchymal cell differentiation intersection_of: BFO:0000050 GO:0030879 ! part of mammary gland development relationship: BFO:0000050 GO:0030879 ! part of mammary gland development +[Term] +id: GO:0060623 +name: regulation of chromosome condensation +def: "Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells." [] +is_a: GO:0033044 ! regulation of chromosome organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030261 ! regulates chromosome condensation +relationship: RO:0002211 GO:0030261 ! regulates chromosome condensation + [Term] id: GO:0060627 name: regulation of vesicle-mediated transport @@ -18472,6 +23840,16 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0016192 ! regulates vesicle-mediated transport relationship: RO:0002211 GO:0016192 ! regulates vesicle-mediated transport +[Term] +id: GO:0060632 +name: regulation of microtubule-based movement +def: "Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins." [] +is_a: GO:0032886 ! regulation of microtubule-based process +is_a: GO:0051270 ! regulation of cellular component movement +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0007018 ! regulates microtubule-based movement +relationship: RO:0002211 GO:0007018 ! regulates microtubule-based movement + [Term] id: GO:0060759 name: regulation of response to cytokine stimulus @@ -18541,6 +23919,15 @@ intersection_of: GO:0042127 ! regulation of cell proliferation intersection_of: BFO:0000050 GO:0001894 ! part of tissue homeostasis relationship: BFO:0000050 GO:0048873 ! part of homeostasis of number of cells within a tissue +[Term] +id: GO:0060785 +name: regulation of apoptosis involved in tissue homeostasis +def: "Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue." [] +is_a: GO:0042981 ! regulation of apoptotic process +intersection_of: GO:0042981 ! regulation of apoptotic process +intersection_of: BFO:0000050 GO:0001894 ! part of tissue homeostasis +relationship: BFO:0000050 GO:0048873 ! part of homeostasis of number of cells within a tissue + [Term] id: GO:0060786 name: regulation of cell differentiation involved in tissue homeostasis @@ -18598,6 +23985,37 @@ synonym: "membrane organization and biogenesis" RELATED [] synonym: "single-organism membrane organization" RELATED [] is_a: GO:0016043 ! cellular component organization +[Term] +id: GO:0061035 +name: regulation of cartilage development +def: "Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate." [] +is_a: GO:2000026 ! regulation of multicellular organismal development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0051216 ! regulates cartilage development +relationship: RO:0002211 GO:0051216 ! regulates cartilage development + +[Term] +id: GO:0061036 +name: positive regulation of cartilage development +def: "Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate." [] +is_a: GO:0051094 ! positive regulation of developmental process +is_a: GO:0051240 ! positive regulation of multicellular organismal process +is_a: GO:0061035 ! regulation of cartilage development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0051216 ! positively regulates cartilage development +relationship: RO:0002213 GO:0051216 ! positively regulates cartilage development + +[Term] +id: GO:0061037 +name: negative regulation of cartilage development +def: "Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate." [] +is_a: GO:0051093 ! negative regulation of developmental process +is_a: GO:0051241 ! negative regulation of multicellular organismal process +is_a: GO:0061035 ! regulation of cartilage development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0051216 ! negatively regulates cartilage development +relationship: RO:0002212 GO:0051216 ! negatively regulates cartilage development + [Term] id: GO:0061041 name: regulation of wound healing @@ -18618,6 +24036,12 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0042060 ! negatively regulates wound healing relationship: RO:0002212 GO:0042060 ! negatively regulates wound healing +[Term] +id: GO:0061061 +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:0061307 name: cardiac neural crest cell differentiation involved in heart development @@ -18663,6 +24087,18 @@ is_a: GO:0042181 ! ketone biosynthetic process is_a: GO:0042446 ! hormone biosynthetic process is_a: GO:1901617 ! organic hydroxy compound biosynthetic process +[Term] +id: GO:0061448 +name: connective tissue development +def: "The progression of a connective tissue over time, from its formation to the mature structure." [] +is_a: GO:0009888 ! tissue development + +[Term] +id: GO:0061512 +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:0061615 name: glycolytic process through fructose-6-phosphate @@ -18710,6 +24146,21 @@ def: "A cytosolic protein complex that is capable of activating caspase-1." [] is_a: GO:0032991 ! protein-containing complex is_a: GO:0044445 ! cytosolic part +[Term] +id: GO:0061844 +name: antimicrobial humoral immune response mediated by antimicrobial peptide +def: "An immune response against microbes mediated by anti-microbial peptides in body fluid." [] +synonym: "antimicrobial peptide-mediated antimicrobial humoral response" EXACT [] +synonym: "peptide-mediated antimicrobial humoral response" BROAD [] +is_a: GO:0019730 ! antimicrobial humoral response + +[Term] +id: GO:0061983 +name: meiosis II cell cycle process +def: "A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes." [] +synonym: "second meiotic division" EXACT [] +is_a: GO:1903046 ! meiotic cell cycle process + [Term] id: GO:0065007 name: biological regulation @@ -18821,6 +24272,88 @@ def: "A cell junction that mechanically attaches a cell (and its cytoskeleton) t synonym: "anchoring cell junction" EXACT [] is_a: GO:0030054 ! cell junction +[Term] +id: GO:0070192 +name: chromosome organization involved in meiotic cell cycle +def: "A process of chromosome organization that is involved in a meiotic cell cycle." [] +synonym: "chromosome organisation involved in meiosis" EXACT [] +synonym: "meiotic chromosome organization" EXACT [] +is_a: GO:0051276 ! chromosome organization +is_a: GO:1903046 ! meiotic cell cycle process +intersection_of: GO:0051276 ! chromosome organization +intersection_of: BFO:0000050 GO:0051321 ! part of meiotic cell cycle + +[Term] +id: GO:0070201 +name: regulation of establishment of protein localization +def: "Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location." [] +synonym: "regulation of establishment of protein localisation" EXACT [] +is_a: GO:0032880 ! regulation of protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0045184 ! regulates establishment of protein localization +relationship: RO:0002211 GO:0045184 ! regulates establishment of protein localization + +[Term] +id: GO:0070253 +name: somatostatin secretion +def: "The regulated release of somatostatin from secretory granules in the D cells of the pancreas." [] +is_a: GO:0030072 ! peptide hormone secretion + +[Term] +id: GO:0070254 +name: mucus secretion +def: "The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function." [] +synonym: "mucus production" EXACT [] +is_a: GO:0007589 ! body fluid secretion +is_a: GO:0032941 ! secretion by tissue +is_a: GO:0071705 ! nitrogen compound transport +is_a: GO:1901264 ! carbohydrate derivative transport + +[Term] +id: GO:0070255 +name: regulation of mucus secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue." [] +synonym: "regulation of mucus production" EXACT [] +is_a: GO:0050878 ! regulation of body fluid levels +is_a: GO:0051046 ! regulation of secretion +is_a: GO:0051239 ! regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070254 ! regulates mucus secretion +relationship: RO:0002211 GO:0070254 ! regulates mucus secretion + +[Term] +id: GO:0070256 +name: negative regulation of mucus secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue." [] +synonym: "negative regulation of mucus production" EXACT [] +is_a: GO:0051048 ! negative regulation of secretion +is_a: GO:0051241 ! negative regulation of multicellular organismal process +is_a: GO:0070255 ! regulation of mucus secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070254 ! negatively regulates mucus secretion +relationship: RO:0002212 GO:0070254 ! negatively regulates mucus secretion + +[Term] +id: GO:0070257 +name: positive regulation of mucus secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue." [] +synonym: "positive regulation of mucus production" EXACT [] +is_a: GO:0051047 ! positive regulation of secretion +is_a: GO:0051240 ! positive regulation of multicellular organismal process +is_a: GO:0070255 ! regulation of mucus secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070254 ! positively regulates mucus secretion +relationship: RO:0002213 GO:0070254 ! positively regulates mucus secretion + +[Term] +id: GO:0070278 +name: extracellular matrix constituent secretion +def: "The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell." [] +synonym: "ECM constituent secretion" EXACT [] +synonym: "ECM secretion" EXACT [] +is_a: GO:0032940 ! secretion by cell +relationship: BFO:0000050 GO:0030198 ! part of extracellular matrix organization + [Term] id: GO:0070293 name: renal absorption @@ -18860,6 +24393,18 @@ synonym: "plasma membrane electron transport chain" EXACT [] is_a: GO:0044459 ! plasma membrane part is_a: GO:0070469 ! respiratory chain +[Term] +id: GO:0070507 +name: regulation of microtubule cytoskeleton organization +def: "Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins." [] +synonym: "regulation of microtubule cytoskeleton organisation" EXACT [] +synonym: "regulation of microtubule dynamics" EXACT [] +is_a: GO:0032886 ! regulation of microtubule-based process +is_a: GO:0051493 ! regulation of cytoskeleton organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0000226 ! regulates microtubule cytoskeleton organization +relationship: RO:0002211 GO:0000226 ! regulates microtubule cytoskeleton organization + [Term] id: GO:0070561 name: vitamin D receptor signaling pathway @@ -18959,6 +24504,14 @@ synonym: "ergocalciferol 25-hydroxylase activity" NARROW [] synonym: "vitamin D2 25-hydroxylase activity" NARROW [] is_a: GO:0016491 ! oxidoreductase activity +[Term] +id: GO:0070727 +name: cellular macromolecule localization +def: "Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." [] +synonym: "cellular macromolecule localisation" EXACT [] +is_a: GO:0033036 ! macromolecule localization +is_a: GO:0051641 ! cellular localization + [Term] id: GO:0070838 name: divalent metal ion transport @@ -19079,6 +24632,13 @@ is_a: GO:0006281 ! DNA repair is_a: GO:0034644 ! cellular response to UV relationship: BFO:0000051 GO:1990731 ! has_part UV-damage excision repair, DNA incision +[Term] +id: GO:0070925 +name: organelle assembly +def: "The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." [] +is_a: GO:0006996 ! organelle organization +is_a: GO:0022607 ! cellular component assembly + [Term] id: GO:0070991 name: medium-chain-acyl-CoA dehydrogenase activity @@ -19142,6 +24702,13 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0008654 ! positively regulates phospholipid biosynthetic process relationship: RO:0002213 GO:0008654 ! positively regulates phospholipid biosynthetic process +[Term] +id: GO:0071103 +name: DNA conformation change +def: "A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule." [] +synonym: "DNA conformation modification" EXACT [] +is_a: GO:0051276 ! chromosome organization + [Term] id: GO:0071214 name: cellular response to abiotic stimulus @@ -19237,6 +24804,42 @@ def: "Any process that results in a change in state or activity of a cell (in te synonym: "cellular response to environmental stimulus" EXACT [] is_a: GO:0009605 ! response to external stimulus +[Term] +id: GO:0071621 +name: granulocyte chemotaxis +def: "The movement of a granulocyte in response to an external stimulus." [] +is_a: GO:0030595 ! leukocyte chemotaxis +is_a: GO:0097530 ! granulocyte migration + +[Term] +id: GO:0071622 +name: regulation of granulocyte chemotaxis +def: "Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus." [] +is_a: GO:0002688 ! regulation of leukocyte chemotaxis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0071621 ! regulates granulocyte chemotaxis +relationship: RO:0002211 GO:0071621 ! regulates granulocyte chemotaxis + +[Term] +id: GO:0071623 +name: negative regulation of granulocyte chemotaxis +def: "Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus." [] +is_a: GO:0002689 ! negative regulation of leukocyte chemotaxis +is_a: GO:0071622 ! regulation of granulocyte chemotaxis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0071621 ! negatively regulates granulocyte chemotaxis +relationship: RO:0002212 GO:0071621 ! negatively regulates granulocyte chemotaxis + +[Term] +id: GO:0071624 +name: positive regulation of granulocyte chemotaxis +def: "Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus." [] +is_a: GO:0002690 ! positive regulation of leukocyte chemotaxis +is_a: GO:0071622 ! regulation of granulocyte chemotaxis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0071621 ! positively regulates granulocyte chemotaxis +relationship: RO:0002213 GO:0071621 ! positively regulates granulocyte chemotaxis + [Term] id: GO:0071625 name: vocalization behavior @@ -19271,6 +24874,63 @@ name: nitrogen compound transport def: "The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] is_a: GO:0006810 ! transport +[Term] +id: GO:0071707 +name: immunoglobulin heavy chain V-D-J recombination +def: "The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS)." [] +synonym: "immunoglobulin V(D)J joining" BROAD [] +synonym: "immunoglobulin V(D)J recombination" BROAD [] +synonym: "immunoglobulin V-D-J joining" EXACT [] +is_a: GO:0033152 ! immunoglobulin V(D)J recombination + +[Term] +id: GO:0071708 +name: immunoglobulin light chain V-J recombination +def: "The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS)." [] +synonym: "immunoglobulin V(D)J joining" BROAD [] +synonym: "immunoglobulin V(D)J recombination" BROAD [] +synonym: "immunoglobulin V-J joining" EXACT [] +is_a: GO:0033152 ! immunoglobulin V(D)J recombination + +[Term] +id: GO:0071735 +name: IgG immunoglobulin complex +def: "A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG 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." [] +synonym: "IgG1" NARROW [] +synonym: "IgG2" NARROW [] +synonym: "IgG2a" NARROW [] +synonym: "IgG2b" NARROW [] +synonym: "IgG2c" NARROW [] +synonym: "IgG3" NARROW [] +synonym: "IgG4" NARROW [] +is_a: GO:0019814 ! immunoglobulin complex + +[Term] +id: GO:0071738 +name: IgD immunoglobulin complex +def: "A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD 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:0071742 +name: IgE immunoglobulin complex +def: "A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE 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:0071745 +name: IgA immunoglobulin complex +def: "A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA 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." [] +synonym: "IgA1 antibody" NARROW [] +synonym: "IgA2 antibody" NARROW [] +is_a: GO:0019814 ! immunoglobulin complex + +[Term] +id: GO:0071753 +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:0071840 name: cellular component organization or biogenesis @@ -19292,6 +24952,16 @@ name: cell periphery def: "The part of a cell encompassing the cell cortex, the plasma membrane, and any external encapsulating structures." [] is_a: GO:0044464 ! cell part +[Term] +id: GO:0071971 +name: extracellular exosome assembly +def: "The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm." [] +synonym: "extracellular vesicular exosome assembly" EXACT [] +is_a: GO:0016050 ! vesicle organization +is_a: GO:0043062 ! extracellular structure organization +is_a: GO:0070925 ! organelle assembly +relationship: BFO:0000050 GO:0097734 ! part of extracellular exosome biogenesis + [Term] id: GO:0072175 name: epithelial tube formation @@ -19607,6 +25277,38 @@ intersection_of: GO:0007154 ! cell communication intersection_of: BFO:0000050 GO:0061337 ! part of cardiac conduction relationship: BFO:0000050 GO:0061337 ! part of cardiac conduction +[Term] +id: GO:0090022 +name: regulation of neutrophil chemotaxis +def: "Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding." [] +is_a: GO:0071622 ! regulation of granulocyte chemotaxis +is_a: GO:1902622 ! regulation of neutrophil migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030593 ! regulates neutrophil chemotaxis +relationship: RO:0002211 GO:0030593 ! regulates neutrophil chemotaxis + +[Term] +id: GO:0090023 +name: positive regulation of neutrophil chemotaxis +def: "Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding." [] +is_a: GO:0071624 ! positive regulation of granulocyte chemotaxis +is_a: GO:0090022 ! regulation of neutrophil chemotaxis +is_a: GO:1902624 ! positive regulation of neutrophil migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030593 ! positively regulates neutrophil chemotaxis +relationship: RO:0002213 GO:0030593 ! positively regulates neutrophil chemotaxis + +[Term] +id: GO:0090024 +name: negative regulation of neutrophil chemotaxis +def: "Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding." [] +is_a: GO:0071623 ! negative regulation of granulocyte chemotaxis +is_a: GO:0090022 ! regulation of neutrophil chemotaxis +is_a: GO:1902623 ! negative regulation of neutrophil migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030593 ! negatively regulates neutrophil chemotaxis +relationship: RO:0002212 GO:0030593 ! negatively regulates neutrophil chemotaxis + [Term] id: GO:0090030 name: regulation of steroid hormone biosynthetic process @@ -19655,6 +25357,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0015833 ! regulates peptide transport relationship: RO:0002211 GO:0015833 ! regulates peptide transport +[Term] +id: GO:0090139 +name: mitochondrial DNA packaging +def: "Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure." [] +is_a: GO:0036385 ! nucleoid DNA packaging +intersection_of: GO:0006323 ! DNA packaging +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000066 GO:0005739 ! occurs in mitochondrion + [Term] id: GO:0090153 name: regulation of sphingolipid biosynthetic process @@ -19723,6 +25434,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0008203 ! negatively regulates cholesterol metabolic process relationship: RO:0002212 GO:0008203 ! negatively regulates cholesterol metabolic process +[Term] +id: GO:0090273 +name: regulation of somatostatin secretion +def: "Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas." [] +is_a: GO:0090276 ! regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070253 ! regulates somatostatin secretion +relationship: RO:0002211 GO:0070253 ! regulates somatostatin secretion + +[Term] +id: GO:0090274 +name: positive regulation of somatostatin secretion +def: "Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas." [] +is_a: GO:0090273 ! regulation of somatostatin secretion +is_a: GO:0090277 ! positive regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070253 ! positively regulates somatostatin secretion +relationship: RO:0002213 GO:0070253 ! positively regulates somatostatin secretion + +[Term] +id: GO:0090275 +name: negative regulation of somatostatin secretion +def: "Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas." [] +is_a: GO:0090273 ! regulation of somatostatin secretion +is_a: GO:0090278 ! negative regulation of peptide hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070253 ! negatively regulates somatostatin secretion +relationship: RO:0002212 GO:0070253 ! negatively regulates somatostatin secretion + [Term] id: GO:0090276 name: regulation of peptide hormone secretion @@ -19811,6 +25551,30 @@ def: "The nucleic acid metabolic process in which the phosphodiester bonds betwe synonym: "nucleic acid cleavage" EXACT [] is_a: GO:0090304 ! nucleic acid metabolic process +[Term] +id: GO:0090316 +name: positive regulation of intracellular protein transport +def: "Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells." [] +is_a: GO:0032388 ! positive regulation of intracellular transport +is_a: GO:0033157 ! regulation of intracellular protein transport +is_a: GO:0051222 ! positive regulation of protein transport +is_a: GO:1903829 ! positive regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006886 ! positively regulates intracellular protein transport +relationship: RO:0002213 GO:0006886 ! positively regulates intracellular protein transport + +[Term] +id: GO:0090317 +name: negative regulation of intracellular protein transport +def: "Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells." [] +is_a: GO:0032387 ! negative regulation of intracellular transport +is_a: GO:0033157 ! regulation of intracellular protein transport +is_a: GO:0051224 ! negative regulation of protein transport +is_a: GO:1903828 ! negative regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006886 ! negatively regulates intracellular protein transport +relationship: RO:0002212 GO:0006886 ! negatively regulates intracellular protein transport + [Term] id: GO:0090324 name: negative regulation of oxidative phosphorylation @@ -19917,6 +25681,12 @@ is_a: GO:0044441 ! ciliary part intersection_of: GO:0005737 ! cytoplasm intersection_of: BFO:0000050 GO:0005929 ! part of cilium +[Term] +id: GO:0097028 +name: dendritic cell differentiation +def: "The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation." [] +is_a: GO:0002521 ! leukocyte differentiation + [Term] id: GO:0097060 name: synaptic membrane @@ -19932,6 +25702,33 @@ name: organic cyclic compound binding def: "Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure." [] is_a: GO:0005488 ! binding +[Term] +id: GO:0097186 +name: amelogenesis +def: "The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage." [] +synonym: "enamel development" EXACT [] +is_a: GO:0042475 ! odontogenesis of dentin-containing tooth +is_a: GO:0048646 ! anatomical structure formation involved in morphogenesis + +[Term] +id: GO:0097190 +name: apoptotic signaling pathway +def: "A series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered." [] +synonym: "apoptotic signalling pathway" EXACT [] +synonym: "induction of apoptosis by extracellular signals" EXACT [] +is_a: GO:0007165 ! signal transduction +relationship: BFO:0000050 GO:0006915 ! part of apoptotic process + +[Term] +id: GO:0097194 +name: execution phase of apoptosis +def: "A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died." [] +synonym: "apoptosis" NARROW [] +synonym: "execution phase of apoptotic process" EXACT [] +is_a: GO:0009987 ! cellular process +relationship: BFO:0000050 GO:0006915 ! part of apoptotic process +relationship: BFO:0000051 GO:0032060 ! has_part bleb assembly + [Term] id: GO:0097237 name: cellular response to toxic substance @@ -19962,6 +25759,24 @@ name: neuron part def: "Any constituent part of a neuron, the basic cellular unit of nervous tissue. A typical neuron consists of a cell body (often called the soma), an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system." [] is_a: GO:0044464 ! cell part +[Term] +id: GO:0097503 +name: sialylation +def: "The covalent attachment of sialic acid to a substrate molecule." [] +is_a: GO:0043412 ! macromolecule modification + +[Term] +id: GO:0097529 +name: myeloid leukocyte migration +def: "The movement of a myeloid leukocyte within or between different tissues and organs of the body." [] +is_a: GO:0050900 ! leukocyte migration + +[Term] +id: GO:0097530 +name: granulocyte migration +def: "The movement of a granulocyte within or between different tissues and organs of the body." [] +is_a: GO:0097529 ! myeloid leukocyte migration + [Term] id: GO:0097659 name: nucleic acid-templated transcription @@ -19977,6 +25792,22 @@ is_a: GO:0043229 ! intracellular organelle intersection_of: GO:0031982 ! vesicle intersection_of: BFO:0000050 GO:0005622 ! part of intracellular +[Term] +id: GO:0097711 +name: ciliary basal body-plasma membrane docking +def: "The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane." [] +synonym: "anchoring of the basal body to the plasma membrane" RELATED [] +synonym: "ciliary basal body docking" EXACT [] +is_a: GO:0140056 ! organelle localization by membrane tethering +relationship: BFO:0000050 GO:0060271 ! part of cilium assembly + +[Term] +id: GO:0097712 +name: vesicle targeting, trans-Golgi to periciliary membrane compartment +def: "The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces." [] +is_a: GO:0048199 ! vesicle targeting, to, from or within Golgi +relationship: BFO:0000050 GO:0060271 ! part of cilium assembly + [Term] id: GO:0097722 name: sperm motility @@ -19984,6 +25815,17 @@ def: "Any process involved in the controlled movement of a sperm cell." [] synonym: "sperm movement" EXACT [] is_a: GO:0048870 ! cell motility +[Term] +id: GO:0097734 +name: extracellular exosome biogenesis +def: "The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane." [] +synonym: "exosome assembly or secretion" EXACT [] +synonym: "exosome biogenesis" EXACT [] +synonym: "exosome production" EXACT [] +synonym: "ILV assembly" RELATED [] +synonym: "intraluminal vesicle assembly" RELATED [] +is_a: GO:0140112 ! extracellular vesicle biogenesis + [Term] id: GO:0097746 name: regulation of blood vessel diameter @@ -20014,6 +25856,13 @@ def: "A DNA binding transcription factor activity that is directly regulated by synonym: "direct ligand regulated sequence-specific DNA binding transcription factor activity" EXACT [] is_a: GO:0003700 ! DNA binding transcription factor activity +[Term] +id: GO:0098542 +name: defense response to other organism +def: "Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism." [] +is_a: GO:0006952 ! defense response +is_a: GO:0051707 ! response to other organism + [Term] id: GO:0098573 name: intrinsic component of mitochondrial membrane @@ -20024,6 +25873,12 @@ is_a: GO:0044455 ! mitochondrial membrane part intersection_of: GO:0031224 ! intrinsic component of membrane intersection_of: BFO:0000050 GO:0031966 ! part of mitochondrial membrane +[Term] +id: GO:0098588 +name: bounding membrane of organelle +def: "The lipid bilayer that forms the outer-most layer of an organelle." [] +is_a: GO:0031090 ! organelle membrane + [Term] id: GO:0098589 name: membrane region @@ -20246,6 +26101,13 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0003014 ! regulates renal system process relationship: RO:0002211 GO:0003014 ! regulates renal system process +[Term] +id: GO:0098802 +name: plasma membrane receptor complex +def: "Any protein complex that is part of the plasma membrane and which functions as a receptor." [] +is_a: GO:0043235 ! receptor complex +is_a: GO:0098797 ! plasma membrane protein complex + [Term] id: GO:0098803 name: respiratory chain complex @@ -20261,6 +26123,13 @@ name: whole membrane def: "Any lipid bilayer that completely encloses some structure, and all the proteins embedded in it or attached to it. Examples include the plasma membrane and most organelle membranes." [] is_a: GO:0016020 ! membrane +[Term] +id: GO:0098813 +name: nuclear chromosome segregation +def: "The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles." [] +is_a: GO:0007059 ! chromosome segregation +is_a: GO:0022402 ! cell cycle process + [Term] id: GO:0098815 name: modulation of excitatory postsynaptic potential @@ -20291,6 +26160,16 @@ name: cellular oxidant detoxification def: "Any process carried out at the cellular level that reduces or removes the toxicity superoxide radicals or hydrogen peroxide." [] is_a: GO:1990748 ! cellular detoxification +[Term] +id: GO:0098900 +name: regulation of action potential +def: "Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels." [] +is_a: GO:0042391 ! regulation of membrane potential +is_a: GO:0050789 ! regulation of biological process +intersection_of: GO:0050789 ! regulation of biological process +intersection_of: RO:0002211 GO:0001508 ! regulates action potential +relationship: RO:0002211 GO:0001508 ! regulates action potential + [Term] id: GO:0098916 name: anterograde trans-synaptic signaling @@ -20393,6 +26272,25 @@ def: "Enables the transmembrane transfer of an inorganic cation by a channel tha is_a: GO:0005261 ! cation channel activity is_a: GO:0015276 ! ligand-gated ion channel activity +[Term] +id: GO:0099111 +name: microtubule-based transport +def: "A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules." [] +is_a: GO:0006810 ! transport +is_a: GO:0007018 ! microtubule-based movement + +[Term] +id: GO:0099124 +name: axonal dopamine secretion +def: "The regulated release of dopamine from an axon." [] +synonym: "axonal DA release" EXACT [] +synonym: "axonal dopamine release" EXACT [] +is_a: GO:0014046 ! dopamine secretion +is_a: GO:0051649 ! establishment of localization in cell +intersection_of: GO:0014046 ! dopamine secretion +intersection_of: BFO:0000066 GO:0030424 ! occurs in axon +relationship: BFO:0000066 GO:0030424 ! occurs in axon + [Term] id: GO:0099170 name: postsynaptic modulation of chemical synaptic transmission @@ -20724,6 +26622,59 @@ intersection_of: GO:0042995 ! cell projection intersection_of: BFO:0000051 GO:0098590 ! has_part plasma membrane region relationship: BFO:0000051 GO:0098590 ! has_part plasma membrane region +[Term] +id: GO:0120031 +name: plasma membrane bounded cell projection assembly +def: "Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon." [] +is_a: GO:0030031 ! cell projection assembly +is_a: GO:0120036 ! plasma membrane bounded cell projection organization + +[Term] +id: GO:0120032 +name: regulation of plasma membrane bounded cell projection assembly +def: "Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly." [] +is_a: GO:0060491 ! regulation of cell projection assembly +is_a: GO:0120035 ! regulation of plasma membrane bounded cell projection organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0120031 ! regulates plasma membrane bounded cell projection assembly +relationship: RO:0002211 GO:0120031 ! regulates plasma membrane bounded cell projection assembly + +[Term] +id: GO:0120033 +name: negative regulation of plasma membrane bounded cell projection assembly +def: "Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly." [] +is_a: GO:0031345 ! negative regulation of cell projection organization +is_a: GO:0120032 ! regulation of plasma membrane bounded cell projection assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0120031 ! negatively regulates plasma membrane bounded cell projection assembly +relationship: RO:0002212 GO:0120031 ! negatively regulates plasma membrane bounded cell projection assembly + +[Term] +id: GO:0120034 +name: positive regulation of plasma membrane bounded cell projection assembly +def: "Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly." [] +is_a: GO:0031346 ! positive regulation of cell projection organization +is_a: GO:0044089 ! positive regulation of cellular component biogenesis +is_a: GO:0120032 ! regulation of plasma membrane bounded cell projection assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0120031 ! positively regulates plasma membrane bounded cell projection assembly +relationship: RO:0002213 GO:0120031 ! positively regulates plasma membrane bounded cell projection assembly + +[Term] +id: GO:0120035 +name: regulation of plasma membrane bounded cell projection organization +def: "Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections." [] +is_a: GO:0031344 ! regulation of cell projection organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0120036 ! regulates plasma membrane bounded cell projection organization +relationship: RO:0002211 GO:0120036 ! regulates plasma membrane bounded cell projection organization + +[Term] +id: GO:0120036 +name: plasma membrane bounded cell projection organization +def: "A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon." [] +is_a: GO:0030030 ! cell projection organization + [Term] id: GO:0120038 name: plasma membrane bounded cell projection part @@ -20758,6 +26709,15 @@ is_a: GO:1903046 ! meiotic cell cycle process intersection_of: GO:0000280 ! nuclear division intersection_of: BFO:0000050 GO:0051321 ! part of meiotic cell cycle +[Term] +id: GO:0140014 +name: mitotic nuclear division +def: "A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell." [] +is_a: GO:0000280 ! nuclear division +is_a: GO:1903047 ! mitotic cell cycle process +intersection_of: GO:0000280 ! nuclear division +intersection_of: BFO:0000050 GO:0000278 ! part of mitotic cell cycle + [Term] id: GO:0140039 name: cell-cell adhesion in response to extracellular stimulus @@ -20776,6 +26736,13 @@ intersection_of: GO:0010467 ! gene expression intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion relationship: BFO:0000066 GO:0005739 ! occurs in mitochondrion +[Term] +id: GO:0140056 +name: organelle localization by membrane tethering +def: "The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other." [] +is_a: GO:0022406 ! membrane docking +is_a: GO:0051640 ! organelle localization + [Term] id: GO:0140096 name: catalytic activity, acting on a protein @@ -20788,6 +26755,13 @@ name: transcription regulator activity def: "A molecular function that controls the rate, timing and/or magnitude of transcription of genetic information. The function of transcriptional regulators is to modulate gene expression at the transcription step so that they are expressed in the right cell at the right time and in the right amount throughout the life of the cell and the organism." [] is_a: GO:0003674 ! molecular_function +[Term] +id: GO:0140112 +name: extracellular vesicle biogenesis +def: "The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content." [] +synonym: "extracellular vesicle assembly" EXACT [] +is_a: GO:0044085 ! cellular component biogenesis + [Term] id: GO:1900003 name: regulation of serine-type endopeptidase activity @@ -20827,6 +26801,45 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0004252 ! positively regulates serine-type endopeptidase activity relationship: RO:0002213 GO:0004252 ! positively regulates serine-type endopeptidase activity +[Term] +id: GO:1900015 +name: regulation of cytokine production involved in inflammatory response +def: "Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response." [] +synonym: "regulation of cytokine production involved in acute inflammatory response" NARROW [] +is_a: GO:0001817 ! regulation of cytokine production +is_a: GO:0050727 ! regulation of inflammatory response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002534 ! regulates cytokine production involved in inflammatory response +relationship: RO:0002211 GO:0002534 ! regulates cytokine production involved in inflammatory response + +[Term] +id: GO:1900016 +name: negative regulation of cytokine production involved in inflammatory response +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response." [] +synonym: "down regulation of cytokine production involved in acute inflammatory response" BROAD [] +synonym: "down regulation of cytokine production involved in inflammatory response" RELATED [] +synonym: "negative regulation of cytokine production involved in acute inflammatory response" NARROW [] +is_a: GO:0001818 ! negative regulation of cytokine production +is_a: GO:0050728 ! negative regulation of inflammatory response +is_a: GO:1900015 ! regulation of cytokine production involved in inflammatory response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002534 ! negatively regulates cytokine production involved in inflammatory response +relationship: RO:0002212 GO:0002534 ! negatively regulates cytokine production involved in inflammatory response + +[Term] +id: GO:1900017 +name: positive regulation of cytokine production involved in inflammatory response +def: "Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response." [] +synonym: "positive regulation of cytokine production involved in acute inflammatory response" NARROW [] +synonym: "up regulation of cytokine production involved in acute inflammatory response" BROAD [] +synonym: "up regulation of cytokine production involved in inflammatory response" RELATED [] +is_a: GO:0001819 ! positive regulation of cytokine production +is_a: GO:0050729 ! positive regulation of inflammatory response +is_a: GO:1900015 ! regulation of cytokine production involved in inflammatory response +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002534 ! positively regulates cytokine production involved in inflammatory response +relationship: RO:0002213 GO:0002534 ! positively regulates cytokine production involved in inflammatory response + [Term] id: GO:1900046 name: regulation of hemostasis @@ -20929,6 +26942,43 @@ is_a: GO:1900115 ! extracellular regulation of signal transduction intersection_of: GO:0009968 ! negative regulation of signal transduction intersection_of: BFO:0000066 GO:0005576 ! occurs in extracellular region +[Term] +id: GO:1900117 +name: regulation of execution phase of apoptosis +def: "Any process that modulates the frequency, rate or extent of execution phase of apoptosis." [] +is_a: GO:0042981 ! regulation of apoptotic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0097194 ! regulates execution phase of apoptosis +relationship: RO:0002211 GO:0097194 ! regulates execution phase of apoptosis + +[Term] +id: GO:1900118 +name: negative regulation of execution phase of apoptosis +def: "Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis." [] +synonym: "down regulation of execution phase of apoptosis" EXACT [] +synonym: "down-regulation of execution phase of apoptosis" EXACT [] +synonym: "downregulation of execution phase of apoptosis" EXACT [] +synonym: "inhibition of execution phase of apoptosis" NARROW [] +is_a: GO:0043066 ! negative regulation of apoptotic process +is_a: GO:1900117 ! regulation of execution phase of apoptosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0097194 ! negatively regulates execution phase of apoptosis +relationship: RO:0002212 GO:0097194 ! negatively regulates execution phase of apoptosis + +[Term] +id: GO:1900119 +name: positive regulation of execution phase of apoptosis +def: "Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis." [] +synonym: "activation of execution phase of apoptosis" NARROW [] +synonym: "up regulation of execution phase of apoptosis" EXACT [] +synonym: "up-regulation of execution phase of apoptosis" EXACT [] +synonym: "upregulation of execution phase of apoptosis" EXACT [] +is_a: GO:0043065 ! positive regulation of apoptotic process +is_a: GO:1900117 ! regulation of execution phase of apoptosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0097194 ! positively regulates execution phase of apoptosis +relationship: RO:0002213 GO:0097194 ! positively regulates execution phase of apoptosis + [Term] id: GO:1900120 name: regulation of receptor binding @@ -21203,6 +27253,96 @@ is_a: GO:1900373 ! positive regulation of purine nucleotide biosynthetic process intersection_of: GO:0045944 ! positive regulation of transcription by RNA polymerase II intersection_of: RO:0002213 GO:0006164 ! positively regulates purine nucleotide biosynthetic process +[Term] +id: GO:1900424 +name: regulation of defense response to bacterium +def: "Any process that modulates the frequency, rate or extent of defense response to bacterium." [] +synonym: "regulation of antibacterial peptide activity" RELATED [] +synonym: "regulation of defence response to bacteria" EXACT [] +synonym: "regulation of defence response to bacterium" EXACT [] +synonym: "regulation of defense response to bacteria" EXACT [] +is_a: GO:0002831 ! regulation of response to biotic stimulus +is_a: GO:0031347 ! regulation of defense response +is_a: GO:0032101 ! regulation of response to external stimulus +is_a: GO:0043900 ! regulation of multi-organism process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0042742 ! regulates defense response to bacterium +relationship: RO:0002211 GO:0042742 ! regulates defense response to bacterium + +[Term] +id: GO:1900425 +name: negative regulation of defense response to bacterium +def: "Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium." [] +synonym: "down regulation of antibacterial peptide activity" RELATED [] +synonym: "down regulation of defence response to bacteria" EXACT [] +synonym: "down regulation of defence response to bacterium" EXACT [] +synonym: "down regulation of defense response to bacteria" EXACT [] +synonym: "down regulation of defense response to bacterium" EXACT [] +synonym: "down-regulation of antibacterial peptide activity" RELATED [] +synonym: "down-regulation of defence response to bacteria" EXACT [] +synonym: "down-regulation of defence response to bacterium" EXACT [] +synonym: "down-regulation of defense response to bacteria" EXACT [] +synonym: "down-regulation of defense response to bacterium" EXACT [] +synonym: "downregulation of antibacterial peptide activity" RELATED [] +synonym: "downregulation of defence response to bacteria" EXACT [] +synonym: "downregulation of defence response to bacterium" EXACT [] +synonym: "downregulation of defense response to bacteria" EXACT [] +synonym: "downregulation of defense response to bacterium" EXACT [] +synonym: "inhibition of antibacterial peptide activity" RELATED [] +synonym: "inhibition of defence response to bacteria" EXACT [] +synonym: "inhibition of defence response to bacterium" EXACT [] +synonym: "inhibition of defense response to bacteria" EXACT [] +synonym: "inhibition of defense response to bacterium" NARROW [] +synonym: "negative regulation of antibacterial peptide activity" RELATED [] +synonym: "negative regulation of defence response to bacteria" EXACT [] +synonym: "negative regulation of defence response to bacterium" EXACT [] +synonym: "negative regulation of defense response to bacteria" EXACT [] +is_a: GO:0002832 ! negative regulation of response to biotic stimulus +is_a: GO:0031348 ! negative regulation of defense response +is_a: GO:0032102 ! negative regulation of response to external stimulus +is_a: GO:0043901 ! negative regulation of multi-organism process +is_a: GO:1900424 ! regulation of defense response to bacterium +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0042742 ! negatively regulates defense response to bacterium +relationship: RO:0002212 GO:0042742 ! negatively regulates defense response to bacterium + +[Term] +id: GO:1900426 +name: positive regulation of defense response to bacterium +def: "Any process that activates or increases the frequency, rate or extent of defense response to bacterium." [] +synonym: "activation of antibacterial peptide activity" RELATED [] +synonym: "activation of defence response to bacteria" EXACT [] +synonym: "activation of defence response to bacterium" EXACT [] +synonym: "activation of defense response to bacteria" EXACT [] +synonym: "activation of defense response to bacterium" NARROW [] +synonym: "positive regulation of antibacterial peptide activity" RELATED [] +synonym: "positive regulation of defence response to bacteria" EXACT [] +synonym: "positive regulation of defence response to bacterium" EXACT [] +synonym: "positive regulation of defense response to bacteria" EXACT [] +synonym: "up regulation of antibacterial peptide activity" RELATED [] +synonym: "up regulation of defence response to bacteria" EXACT [] +synonym: "up regulation of defence response to bacterium" EXACT [] +synonym: "up regulation of defense response to bacteria" EXACT [] +synonym: "up regulation of defense response to bacterium" EXACT [] +synonym: "up-regulation of antibacterial peptide activity" RELATED [] +synonym: "up-regulation of defence response to bacteria" EXACT [] +synonym: "up-regulation of defence response to bacterium" EXACT [] +synonym: "up-regulation of defense response to bacteria" EXACT [] +synonym: "up-regulation of defense response to bacterium" EXACT [] +synonym: "upregulation of antibacterial peptide activity" RELATED [] +synonym: "upregulation of defence response to bacteria" EXACT [] +synonym: "upregulation of defence response to bacterium" EXACT [] +synonym: "upregulation of defense response to bacteria" EXACT [] +synonym: "upregulation of defense response to bacterium" EXACT [] +is_a: GO:0002833 ! positive regulation of response to biotic stimulus +is_a: GO:0031349 ! positive regulation of defense response +is_a: GO:0032103 ! positive regulation of response to external stimulus +is_a: GO:0043902 ! positive regulation of multi-organism process +is_a: GO:1900424 ! regulation of defense response to bacterium +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0042742 ! positively regulates defense response to bacterium +relationship: RO:0002213 GO:0042742 ! positively regulates defense response to bacterium + [Term] id: GO:1900449 name: regulation of glutamate receptor signaling pathway @@ -21390,6 +27530,17 @@ synonym: "carbohydrate derivative synthesis" EXACT [] is_a: GO:1901135 ! carbohydrate derivative metabolic process is_a: GO:1901576 ! organic substance biosynthetic process +[Term] +id: GO:1901148 +name: gene expression involved in extracellular matrix organization +def: "Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form." [] +synonym: "expression of extracellular matrix proteins" EXACT [] +synonym: "extracellular matrix protein production" RELATED [] +is_a: GO:0010467 ! gene expression +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:1901213 name: regulation of transcription from RNA polymerase II promoter involved in heart development @@ -21510,6 +27661,12 @@ is_a: GO:1901213 ! regulation of transcription from RNA polymerase II promoter i intersection_of: GO:0045944 ! positive regulation of transcription by RNA polymerase II intersection_of: BFO:0000050 GO:0007507 ! part of heart development +[Term] +id: GO:1901264 +name: carbohydrate derivative transport +def: "The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0071702 ! organic substance transport + [Term] id: GO:1901292 name: nucleoside phosphate catabolic process @@ -21691,6 +27848,14 @@ synonym: "ether synthesis" EXACT [] is_a: GO:0018904 ! ether metabolic process is_a: GO:1901576 ! organic substance biosynthetic process +[Term] +id: GO:1901505 +name: carbohydrate derivative transmembrane transporter activity +def: "Enables the transfer of carbohydrate derivative from one side of a membrane to the other." [] +synonym: "carbohydrate derivative transporter activity" RELATED [] +is_a: GO:0022857 ! transmembrane transporter activity +relationship: BFO:0000050 GO:1901264 ! part of carbohydrate derivative transport + [Term] id: GO:1901522 name: positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus @@ -21713,6 +27878,79 @@ intersection_of: GO:0045944 ! positive regulation of transcription by RNA polyme intersection_of: BFO:0000050 GO:0070887 ! part of cellular response to chemical stimulus relationship: BFO:0000050 GO:0070887 ! part of cellular response to chemical stimulus +[Term] +id: GO:1901532 +name: regulation of hematopoietic progenitor cell differentiation +def: "Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation." [] +synonym: "regulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "regulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "regulation of hemopoietic progenitor cell differentiation" EXACT [] +is_a: GO:0045595 ! regulation of cell differentiation +is_a: GO:1903706 ! regulation of hemopoiesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002244 ! regulates hematopoietic progenitor cell differentiation +relationship: RO:0002211 GO:0002244 ! regulates hematopoietic progenitor cell differentiation + +[Term] +id: GO:1901533 +name: negative regulation of hematopoietic progenitor cell differentiation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation." [] +synonym: "down regulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "down regulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "down regulation of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "down regulation of hemopoietic progenitor cell differentiation" EXACT [] +synonym: "down-regulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "down-regulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "down-regulation of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "down-regulation of hemopoietic progenitor cell differentiation" EXACT [] +synonym: "downregulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "downregulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "downregulation of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "downregulation of hemopoietic progenitor cell differentiation" EXACT [] +synonym: "inhibition of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "inhibition of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "inhibition of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "inhibition of hemopoietic progenitor cell differentiation" NARROW [] +synonym: "negative regulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "negative regulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "negative regulation of hemopoietic progenitor cell differentiation" EXACT [] +is_a: GO:0045596 ! negative regulation of cell differentiation +is_a: GO:1901532 ! regulation of hematopoietic progenitor cell differentiation +is_a: GO:1903707 ! negative regulation of hemopoiesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002244 ! negatively regulates hematopoietic progenitor cell differentiation +relationship: RO:0002212 GO:0002244 ! negatively regulates hematopoietic progenitor cell differentiation + +[Term] +id: GO:1901534 +name: positive regulation of hematopoietic progenitor cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation." [] +synonym: "activation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "activation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "activation of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "activation of hemopoietic progenitor cell differentiation" NARROW [] +synonym: "positive regulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "positive regulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "positive regulation of hemopoietic progenitor cell differentiation" EXACT [] +synonym: "up regulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "up regulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "up regulation of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "up regulation of hemopoietic progenitor cell differentiation" EXACT [] +synonym: "up-regulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "up-regulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "up-regulation of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "up-regulation of hemopoietic progenitor cell differentiation" EXACT [] +synonym: "upregulation of haematopoietic progenitor cell differentiation" EXACT [] +synonym: "upregulation of haemopoietic progenitor cell differentiation" EXACT [] +synonym: "upregulation of hematopoietic progenitor cell differentiation" RELATED [] +synonym: "upregulation of hemopoietic progenitor cell differentiation" EXACT [] +is_a: GO:0045597 ! positive regulation of cell differentiation +is_a: GO:1901532 ! regulation of hematopoietic progenitor cell differentiation +is_a: GO:1903708 ! positive regulation of hemopoiesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002244 ! positively regulates hematopoietic progenitor cell differentiation +relationship: RO:0002213 GO:0002244 ! positively regulates hematopoietic progenitor cell differentiation + [Term] id: GO:1901564 name: organonitrogen compound metabolic process @@ -22168,6 +28406,43 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0032042 ! positively regulates mitochondrial DNA metabolic process relationship: RO:0002213 GO:0032042 ! positively regulates mitochondrial DNA metabolic process +[Term] +id: GO:1901861 +name: regulation of muscle tissue development +def: "Any process that modulates the frequency, rate or extent of muscle tissue development." [] +is_a: GO:0050793 ! regulation of developmental process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0060537 ! regulates muscle tissue development +relationship: RO:0002211 GO:0060537 ! regulates muscle tissue development + +[Term] +id: GO:1901862 +name: negative regulation of muscle tissue development +def: "Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development." [] +synonym: "down regulation of muscle tissue development" EXACT [] +synonym: "down-regulation of muscle tissue development" EXACT [] +synonym: "downregulation of muscle tissue development" EXACT [] +synonym: "inhibition of muscle tissue development" NARROW [] +is_a: GO:0051093 ! negative regulation of developmental process +is_a: GO:1901861 ! regulation of muscle tissue development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0060537 ! negatively regulates muscle tissue development +relationship: RO:0002212 GO:0060537 ! negatively regulates muscle tissue development + +[Term] +id: GO:1901863 +name: positive regulation of muscle tissue development +def: "Any process that activates or increases the frequency, rate or extent of muscle tissue development." [] +synonym: "activation of muscle tissue development" NARROW [] +synonym: "up regulation of muscle tissue development" EXACT [] +synonym: "up-regulation of muscle tissue development" EXACT [] +synonym: "upregulation of muscle tissue development" EXACT [] +is_a: GO:0051094 ! positive regulation of developmental process +is_a: GO:1901861 ! regulation of muscle tissue development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0060537 ! positively regulates muscle tissue development +relationship: RO:0002213 GO:0060537 ! positively regulates muscle tissue development + [Term] id: GO:1901999 name: homogentisate metabolic process @@ -22176,6 +28451,43 @@ synonym: "homogentisate metabolism" EXACT [] is_a: GO:0018958 ! phenol-containing compound metabolic process is_a: GO:0032787 ! monocarboxylic acid metabolic process +[Term] +id: GO:1902017 +name: regulation of cilium assembly +def: "Any process that modulates the frequency, rate or extent of cilium assembly." [] +synonym: "regulation of ciliogenesis" EXACT [] +synonym: "regulation of cilium biogenesis" RELATED [] +is_a: GO:0120032 ! regulation of plasma membrane bounded cell projection assembly +is_a: GO:1902115 ! regulation of organelle assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0060271 ! regulates cilium assembly +relationship: RO:0002211 GO:0060271 ! regulates cilium assembly + +[Term] +id: GO:1902018 +name: negative regulation of cilium assembly +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly." [] +synonym: "down regulation of ciliogenesis" EXACT [] +synonym: "down regulation of cilium assembly" EXACT [] +synonym: "down regulation of cilium biogenesis" RELATED [] +synonym: "down-regulation of ciliogenesis" EXACT [] +synonym: "down-regulation of cilium assembly" EXACT [] +synonym: "down-regulation of cilium biogenesis" RELATED [] +synonym: "downregulation of ciliogenesis" EXACT [] +synonym: "downregulation of cilium assembly" EXACT [] +synonym: "downregulation of cilium biogenesis" RELATED [] +synonym: "inhibition of ciliogenesis" EXACT [] +synonym: "inhibition of cilium assembly" NARROW [] +synonym: "inhibition of cilium biogenesis" RELATED [] +synonym: "negative regulation of ciliogenesis" EXACT [] +synonym: "negative regulation of cilium biogenesis" RELATED [] +is_a: GO:0120033 ! negative regulation of plasma membrane bounded cell projection assembly +is_a: GO:1902017 ! regulation of cilium assembly +is_a: GO:1902116 ! negative regulation of organelle assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0060271 ! negatively regulates cilium assembly +relationship: RO:0002212 GO:0060271 ! negatively regulates cilium assembly + [Term] id: GO:1902064 name: regulation of transcription from RNA polymerase II promoter involved in spermatogenesis @@ -22303,6 +28615,45 @@ intersection_of: GO:0046939 ! nucleotide phosphorylation intersection_of: BFO:0000050 GO:0006281 ! part of DNA repair relationship: BFO:0000050 GO:0006281 ! part of DNA repair +[Term] +id: GO:1902115 +name: regulation of organelle assembly +def: "Any process that modulates the frequency, rate or extent of organelle assembly." [] +is_a: GO:0033043 ! regulation of organelle organization +is_a: GO:0044087 ! regulation of cellular component biogenesis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070925 ! regulates organelle assembly +relationship: RO:0002211 GO:0070925 ! regulates organelle assembly + +[Term] +id: GO:1902116 +name: negative regulation of organelle assembly +def: "Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly." [] +synonym: "down regulation of organelle assembly" EXACT [] +synonym: "down-regulation of organelle assembly" EXACT [] +synonym: "downregulation of organelle assembly" EXACT [] +synonym: "inhibition of organelle assembly" NARROW [] +is_a: GO:0010639 ! negative regulation of organelle organization +is_a: GO:1902115 ! regulation of organelle assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070925 ! negatively regulates organelle assembly +relationship: RO:0002212 GO:0070925 ! negatively regulates organelle assembly + +[Term] +id: GO:1902117 +name: positive regulation of organelle assembly +def: "Any process that activates or increases the frequency, rate or extent of organelle assembly." [] +synonym: "activation of organelle assembly" NARROW [] +synonym: "up regulation of organelle assembly" EXACT [] +synonym: "up-regulation of organelle assembly" EXACT [] +synonym: "upregulation of organelle assembly" EXACT [] +is_a: GO:0010638 ! positive regulation of organelle organization +is_a: GO:0044089 ! positive regulation of cellular component biogenesis +is_a: GO:1902115 ! regulation of organelle assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070925 ! positively regulates organelle assembly +relationship: RO:0002213 GO:0070925 ! positively regulates organelle assembly + [Term] id: GO:1902221 name: erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process @@ -22318,12 +28669,123 @@ synonym: "ketone body metabolism" EXACT [] is_a: GO:0017144 ! drug metabolic process is_a: GO:1901568 ! fatty acid derivative metabolic process +[Term] +id: GO:1902262 +name: apoptotic process involved in blood vessel morphogenesis +def: "Any apoptotic process that is involved in blood vessel morphogenesis." [] +synonym: "apoptosis involved in patterning of blood vessels" NARROW [] +synonym: "apoptotic cell death involved in patterning of blood vessels" EXACT [] +synonym: "apoptotic program involved in patterning of blood vessels" NARROW [] +synonym: "apoptotic programmed cell death involved in patterning of blood vessels" EXACT [] +synonym: "programmed cell death by apoptosis involved in patterning of blood vessels" EXACT [] +synonym: "signaling (initiator) caspase activity involved in patterning of blood vessels" RELATED [] +synonym: "type I programmed cell death involved in patterning of blood vessels" NARROW [] +is_a: GO:0060561 ! apoptotic process involved in morphogenesis +intersection_of: GO:0006915 ! apoptotic process +intersection_of: BFO:0000050 GO:0048514 ! part of blood vessel morphogenesis +relationship: BFO:0000050 GO:0048514 ! part of blood vessel morphogenesis + [Term] id: GO:1902271 name: D3 vitamins binding def: "Interacting selectively and non-covalently with D3 vitamins." [] is_a: GO:0005499 ! vitamin D binding +[Term] +id: GO:1902337 +name: regulation of apoptotic process involved in morphogenesis +def: "Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis." [] +synonym: "regulation of apoptosis involved in development" RELATED [] +synonym: "regulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "regulation of morphogenetic apoptosis" RELATED [] +is_a: GO:0022603 ! regulation of anatomical structure morphogenesis +is_a: GO:1904748 ! regulation of apoptotic process involved in development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0060561 ! regulates apoptotic process involved in morphogenesis +relationship: RO:0002211 GO:0060561 ! regulates apoptotic process involved in morphogenesis + +[Term] +id: GO:1902338 +name: negative regulation of apoptotic process involved in morphogenesis +def: "Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis." [] +synonym: "down regulation of apoptosis involved in development" RELATED [] +synonym: "down regulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "down regulation of apoptotic process involved in morphogenesis" EXACT [] +synonym: "down regulation of morphogenetic apoptosis" RELATED [] +synonym: "down-regulation of apoptosis involved in development" RELATED [] +synonym: "down-regulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "down-regulation of apoptotic process involved in morphogenesis" EXACT [] +synonym: "down-regulation of morphogenetic apoptosis" RELATED [] +synonym: "downregulation of apoptosis involved in development" RELATED [] +synonym: "downregulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "downregulation of apoptotic process involved in morphogenesis" EXACT [] +synonym: "downregulation of morphogenetic apoptosis" RELATED [] +synonym: "inhibition of apoptosis involved in development" RELATED [] +synonym: "inhibition of apoptosis involved in morphogenesis" NARROW [] +synonym: "inhibition of apoptotic process involved in morphogenesis" NARROW [] +synonym: "inhibition of morphogenetic apoptosis" RELATED [] +synonym: "negative regulation of apoptosis involved in development" RELATED [] +synonym: "negative regulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "negative regulation of morphogenetic apoptosis" RELATED [] +is_a: GO:1902337 ! regulation of apoptotic process involved in morphogenesis +is_a: GO:1904746 ! negative regulation of apoptotic process involved in development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0060561 ! negatively regulates apoptotic process involved in morphogenesis +relationship: RO:0002212 GO:0060561 ! negatively regulates apoptotic process involved in morphogenesis + +[Term] +id: GO:1902339 +name: positive regulation of apoptotic process involved in morphogenesis +def: "Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis." [] +synonym: "activation of apoptosis involved in development" RELATED [] +synonym: "activation of apoptosis involved in morphogenesis" NARROW [] +synonym: "activation of apoptotic process involved in morphogenesis" NARROW [] +synonym: "activation of morphogenetic apoptosis" RELATED [] +synonym: "positive regulation of apoptosis involved in development" RELATED [] +synonym: "positive regulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "positive regulation of morphogenetic apoptosis" RELATED [] +synonym: "up regulation of apoptosis involved in development" RELATED [] +synonym: "up regulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "up regulation of apoptotic process involved in morphogenesis" EXACT [] +synonym: "up regulation of morphogenetic apoptosis" RELATED [] +synonym: "up-regulation of apoptosis involved in development" RELATED [] +synonym: "up-regulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "up-regulation of apoptotic process involved in morphogenesis" EXACT [] +synonym: "up-regulation of morphogenetic apoptosis" RELATED [] +synonym: "upregulation of apoptosis involved in development" RELATED [] +synonym: "upregulation of apoptosis involved in morphogenesis" NARROW [] +synonym: "upregulation of apoptotic process involved in morphogenesis" EXACT [] +synonym: "upregulation of morphogenetic apoptosis" RELATED [] +is_a: GO:1902337 ! regulation of apoptotic process involved in morphogenesis +is_a: GO:1904747 ! positive regulation of apoptotic process involved in development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0060561 ! positively regulates apoptotic process involved in morphogenesis +relationship: RO:0002213 GO:0060561 ! positively regulates apoptotic process involved in morphogenesis + +[Term] +id: GO:1902340 +name: negative regulation of chromosome condensation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation." [] +synonym: "down regulation of chromosome condensation" EXACT [] +synonym: "down regulation of eukaryotic chromosome condensation" EXACT [] +synonym: "down regulation of nuclear chromosome condensation" EXACT [] +synonym: "down-regulation of chromosome condensation" EXACT [] +synonym: "down-regulation of eukaryotic chromosome condensation" EXACT [] +synonym: "down-regulation of nuclear chromosome condensation" EXACT [] +synonym: "downregulation of chromosome condensation" EXACT [] +synonym: "downregulation of eukaryotic chromosome condensation" EXACT [] +synonym: "downregulation of nuclear chromosome condensation" EXACT [] +synonym: "inhibition of chromosome condensation" NARROW [] +synonym: "inhibition of eukaryotic chromosome condensation" NARROW [] +synonym: "inhibition of nuclear chromosome condensation" NARROW [] +synonym: "negative regulation of eukaryotic chromosome condensation" EXACT [] +synonym: "negative regulation of nuclear chromosome condensation" EXACT [] +is_a: GO:0060623 ! regulation of chromosome condensation +is_a: GO:2001251 ! negative regulation of chromosome organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030261 ! negatively regulates chromosome condensation +relationship: RO:0002212 GO:0030261 ! negatively regulates chromosome condensation + [Term] id: GO:1902476 name: chloride transmembrane transport @@ -22331,6 +28793,63 @@ def: "The process in which chloride is transported across a membrane." [] is_a: GO:0006821 ! chloride transport is_a: GO:0098661 ! inorganic anion transmembrane transport +[Term] +id: GO:1902490 +name: regulation of sperm capacitation +def: "Any process that modulates the frequency, rate or extent of sperm capacitation." [] +synonym: "regulation of sperm activation" RELATED [] +is_a: GO:0043900 ! regulation of multi-organism process +is_a: GO:0051239 ! regulation of multicellular organismal process +is_a: GO:1903429 ! regulation of cell maturation +is_a: GO:2000241 ! regulation of reproductive process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0048240 ! regulates sperm capacitation +relationship: RO:0002211 GO:0048240 ! regulates sperm capacitation + +[Term] +id: GO:1902491 +name: negative regulation of sperm capacitation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation." [] +synonym: "down regulation of sperm activation" RELATED [] +synonym: "down regulation of sperm capacitation" EXACT [] +synonym: "down-regulation of sperm activation" RELATED [] +synonym: "down-regulation of sperm capacitation" EXACT [] +synonym: "downregulation of sperm activation" RELATED [] +synonym: "downregulation of sperm capacitation" EXACT [] +synonym: "inhibition of sperm activation" RELATED [] +synonym: "inhibition of sperm capacitation" NARROW [] +synonym: "negative regulation of sperm activation" RELATED [] +is_a: GO:0043901 ! negative regulation of multi-organism process +is_a: GO:0051241 ! negative regulation of multicellular organismal process +is_a: GO:1902490 ! regulation of sperm capacitation +is_a: GO:1903430 ! negative regulation of cell maturation +is_a: GO:2000242 ! negative regulation of reproductive process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0048240 ! negatively regulates sperm capacitation +relationship: RO:0002212 GO:0048240 ! negatively regulates sperm capacitation + +[Term] +id: GO:1902492 +name: positive regulation of sperm capacitation +def: "Any process that activates or increases the frequency, rate or extent of sperm capacitation." [] +synonym: "activation of sperm activation" RELATED [] +synonym: "activation of sperm capacitation" NARROW [] +synonym: "positive regulation of sperm activation" RELATED [] +synonym: "up regulation of sperm activation" RELATED [] +synonym: "up regulation of sperm capacitation" EXACT [] +synonym: "up-regulation of sperm activation" RELATED [] +synonym: "up-regulation of sperm capacitation" EXACT [] +synonym: "upregulation of sperm activation" RELATED [] +synonym: "upregulation of sperm capacitation" EXACT [] +is_a: GO:0043902 ! positive regulation of multi-organism process +is_a: GO:0051240 ! positive regulation of multicellular organismal process +is_a: GO:1902490 ! regulation of sperm capacitation +is_a: GO:1903431 ! positive regulation of cell maturation +is_a: GO:2000243 ! positive regulation of reproductive process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0048240 ! positively regulates sperm capacitation +relationship: RO:0002213 GO:0048240 ! positively regulates sperm capacitation + [Term] id: GO:1902494 name: catalytic complex @@ -22506,6 +29025,43 @@ synonym: "proton transport" BROAD [] is_a: GO:0015672 ! monovalent inorganic cation transport is_a: GO:0098662 ! inorganic cation transmembrane transport +[Term] +id: GO:1902622 +name: regulation of neutrophil migration +def: "Any process that modulates the frequency, rate or extent of neutrophil migration." [] +is_a: GO:0002685 ! regulation of leukocyte migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:1990266 ! regulates neutrophil migration +relationship: RO:0002211 GO:1990266 ! regulates neutrophil migration + +[Term] +id: GO:1902623 +name: negative regulation of neutrophil migration +def: "Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration." [] +synonym: "down regulation of neutrophil migration" EXACT [] +synonym: "down-regulation of neutrophil migration" EXACT [] +synonym: "downregulation of neutrophil migration" EXACT [] +synonym: "inhibition of neutrophil migration" NARROW [] +is_a: GO:0002686 ! negative regulation of leukocyte migration +is_a: GO:1902622 ! regulation of neutrophil migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:1990266 ! negatively regulates neutrophil migration +relationship: RO:0002212 GO:1990266 ! negatively regulates neutrophil migration + +[Term] +id: GO:1902624 +name: positive regulation of neutrophil migration +def: "Any process that activates or increases the frequency, rate or extent of neutrophil migration." [] +synonym: "activation of neutrophil migration" NARROW [] +synonym: "up regulation of neutrophil migration" EXACT [] +synonym: "up-regulation of neutrophil migration" EXACT [] +synonym: "upregulation of neutrophil migration" EXACT [] +is_a: GO:0002687 ! positive regulation of leukocyte migration +is_a: GO:1902622 ! regulation of neutrophil migration +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:1990266 ! positively regulates neutrophil migration +relationship: RO:0002213 GO:1990266 ! positively regulates neutrophil migration + [Term] id: GO:1902652 name: secondary alcohol metabolic process @@ -22596,6 +29152,55 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0032774 ! positively regulates RNA biosynthetic process relationship: RO:0002213 GO:0032774 ! positively regulates RNA biosynthetic process +[Term] +id: GO:1902742 +name: apoptotic process involved in development +def: "Any apoptotic process that is involved in anatomical structure development." [] +synonym: "activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "apoptosis involved in anatomical structure development" NARROW [] +synonym: "apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "apoptotic process involved in anatomical structure development" EXACT [] +synonym: "apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "apoptotic program involved in anatomical structure development" NARROW [] +synonym: "apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "type I programmed cell death involved in development of an anatomical structure" NARROW [] +is_a: GO:0006915 ! apoptotic process +intersection_of: GO:0006915 ! apoptotic process +intersection_of: BFO:0000050 GO:0048856 ! part of anatomical structure development +relationship: BFO:0000050 GO:0048856 ! part of anatomical structure development + +[Term] +id: GO:1902850 +name: microtubule cytoskeleton organization involved in mitosis +def: "Any microtubule cytoskeleton organization that is involved in mitosis." [] +synonym: "microtubule cytoskeleton organisation involved in mitosis" EXACT [] +synonym: "microtubule cytoskeleton organization and biogenesis involved in mitosis" RELATED [] +synonym: "microtubule dynamics involved in mitosis" EXACT [] +is_a: GO:0000226 ! microtubule cytoskeleton organization +is_a: GO:1903047 ! mitotic cell cycle process +intersection_of: GO:0000226 ! microtubule cytoskeleton organization +intersection_of: BFO:0000050 GO:0000278 ! part of mitotic cell cycle + [Term] id: GO:1902930 name: regulation of alcohol biosynthetic process @@ -22910,8 +29515,18 @@ is_a: GO:0022402 ! cell cycle process is_a: GO:0022414 ! reproductive process intersection_of: GO:0009987 ! cellular process intersection_of: BFO:0000050 GO:0051321 ! part of meiotic cell cycle +disjoint_from: GO:1903047 ! mitotic cell cycle process relationship: BFO:0000050 GO:0051321 ! part of meiotic cell cycle +[Term] +id: GO:1903047 +name: mitotic cell cycle process +def: "A process that is part of the mitotic cell cycle." [] +is_a: GO:0022402 ! cell cycle process +intersection_of: GO:0009987 ! cellular process +intersection_of: BFO:0000050 GO:0000278 ! part of mitotic cell cycle +relationship: BFO:0000050 GO:0000278 ! part of mitotic cell cycle + [Term] id: GO:1903048 name: regulation of acetylcholine-gated cation channel activity @@ -22939,6 +29554,65 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0022848 ! negatively regulates acetylcholine-gated cation-selective channel activity relationship: RO:0002212 GO:0022848 ! negatively regulates acetylcholine-gated cation-selective channel activity +[Term] +id: GO:1903053 +name: regulation of extracellular matrix organization +def: "Any process that modulates the frequency, rate or extent of extracellular matrix organization." [] +synonym: "regulation of extracellular matrix organisation" EXACT [] +synonym: "regulation of extracellular matrix organization and biogenesis" RELATED [] +is_a: GO:0051128 ! regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0030198 ! regulates extracellular matrix organization +relationship: RO:0002211 GO:0030198 ! regulates extracellular matrix organization + +[Term] +id: GO:1903054 +name: negative regulation of extracellular matrix organization +def: "Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization." [] +synonym: "down regulation of extracellular matrix organisation" EXACT [] +synonym: "down regulation of extracellular matrix organization" EXACT [] +synonym: "down regulation of extracellular matrix organization and biogenesis" RELATED [] +synonym: "down-regulation of extracellular matrix organisation" EXACT [] +synonym: "down-regulation of extracellular matrix organization" EXACT [] +synonym: "down-regulation of extracellular matrix organization and biogenesis" RELATED [] +synonym: "downregulation of extracellular matrix organisation" EXACT [] +synonym: "downregulation of extracellular matrix organization" EXACT [] +synonym: "downregulation of extracellular matrix organization and biogenesis" RELATED [] +synonym: "inhibition of extracellular matrix organisation" NARROW [] +synonym: "inhibition of extracellular matrix organization" NARROW [] +synonym: "inhibition of extracellular matrix organization and biogenesis" RELATED [] +synonym: "negative regulation of extracellular matrix organisation" EXACT [] +synonym: "negative regulation of extracellular matrix organization and biogenesis" RELATED [] +is_a: GO:0051129 ! negative regulation of cellular component organization +is_a: GO:1903053 ! regulation of extracellular matrix organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0030198 ! negatively regulates extracellular matrix organization +relationship: RO:0002212 GO:0030198 ! negatively regulates extracellular matrix organization + +[Term] +id: GO:1903055 +name: positive regulation of extracellular matrix organization +def: "Any process that activates or increases the frequency, rate or extent of extracellular matrix organization." [] +synonym: "activation of extracellular matrix organisation" NARROW [] +synonym: "activation of extracellular matrix organization" NARROW [] +synonym: "activation of extracellular matrix organization and biogenesis" RELATED [] +synonym: "positive regulation of extracellular matrix organisation" EXACT [] +synonym: "positive regulation of extracellular matrix organization and biogenesis" RELATED [] +synonym: "up regulation of extracellular matrix organisation" EXACT [] +synonym: "up regulation of extracellular matrix organization" EXACT [] +synonym: "up regulation of extracellular matrix organization and biogenesis" RELATED [] +synonym: "up-regulation of extracellular matrix organisation" EXACT [] +synonym: "up-regulation of extracellular matrix organization" EXACT [] +synonym: "up-regulation of extracellular matrix organization and biogenesis" RELATED [] +synonym: "upregulation of extracellular matrix organisation" EXACT [] +synonym: "upregulation of extracellular matrix organization" EXACT [] +synonym: "upregulation of extracellular matrix organization and biogenesis" RELATED [] +is_a: GO:0051130 ! positive regulation of cellular component organization +is_a: GO:1903053 ! regulation of extracellular matrix organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030198 ! positively regulates extracellular matrix organization +relationship: RO:0002213 GO:0030198 ! positively regulates extracellular matrix organization + [Term] id: GO:1903059 name: regulation of protein lipidation @@ -23035,6 +29709,12 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006390 ! positively regulates mitochondrial transcription relationship: RO:0002213 GO:0006390 ! positively regulates mitochondrial transcription +[Term] +id: GO:1903131 +name: mononuclear cell differentiation +def: "The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell." [] +is_a: GO:0002521 ! leukocyte differentiation + [Term] id: GO:1903169 name: regulation of calcium ion transmembrane transport @@ -23352,6 +30032,94 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0007034 ! positively regulates vacuolar transport relationship: RO:0002213 GO:0007034 ! positively regulates vacuolar transport +[Term] +id: GO:1903353 +name: regulation of nucleus organization +def: "Any process that modulates the frequency, rate or extent of nucleus organization." [] +synonym: "regulation of nuclear morphology" RELATED [] +synonym: "regulation of nuclear organisation" EXACT [] +synonym: "regulation of nuclear organization" EXACT [] +synonym: "regulation of nuclear organization and biogenesis" RELATED [] +synonym: "regulation of nucleus organization and biogenesis" RELATED [] +is_a: GO:0033043 ! regulation of organelle organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006997 ! regulates nucleus organization +relationship: RO:0002211 GO:0006997 ! regulates nucleus organization + +[Term] +id: GO:1903379 +name: regulation of mitotic chromosome condensation +def: "Any process that modulates the frequency, rate or extent of mitotic chromosome condensation." [] +is_a: GO:0033047 ! regulation of mitotic sister chromatid segregation +is_a: GO:0060623 ! regulation of chromosome condensation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0007076 ! regulates mitotic chromosome condensation +relationship: RO:0002211 GO:0007076 ! regulates mitotic chromosome condensation + +[Term] +id: GO:1903380 +name: positive regulation of mitotic chromosome condensation +def: "Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation." [] +synonym: "activation of mitotic chromosome condensation" NARROW [] +synonym: "up regulation of mitotic chromosome condensation" EXACT [] +synonym: "up-regulation of mitotic chromosome condensation" EXACT [] +synonym: "upregulation of mitotic chromosome condensation" EXACT [] +is_a: GO:0045840 ! positive regulation of mitotic nuclear division +is_a: GO:0051984 ! positive regulation of chromosome segregation +is_a: GO:1903379 ! regulation of mitotic chromosome condensation +is_a: GO:1905821 ! positive regulation of chromosome condensation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0007076 ! positively regulates mitotic chromosome condensation +relationship: RO:0002213 GO:0007076 ! positively regulates mitotic chromosome condensation + +[Term] +id: GO:1903429 +name: regulation of cell maturation +def: "Any process that modulates the frequency, rate or extent of cell maturation." [] +synonym: "regulation of functional differentiation" RELATED [] +is_a: GO:0060284 ! regulation of cell development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0048469 ! regulates cell maturation +relationship: RO:0002211 GO:0048469 ! regulates cell maturation + +[Term] +id: GO:1903430 +name: negative regulation of cell maturation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation." [] +synonym: "down regulation of cell maturation" EXACT [] +synonym: "down regulation of functional differentiation" RELATED [] +synonym: "down-regulation of cell maturation" EXACT [] +synonym: "down-regulation of functional differentiation" RELATED [] +synonym: "downregulation of cell maturation" EXACT [] +synonym: "downregulation of functional differentiation" RELATED [] +synonym: "inhibition of cell maturation" NARROW [] +synonym: "inhibition of functional differentiation" RELATED [] +synonym: "negative regulation of functional differentiation" RELATED [] +is_a: GO:0010721 ! negative regulation of cell development +is_a: GO:1903429 ! regulation of cell maturation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0048469 ! negatively regulates cell maturation +relationship: RO:0002212 GO:0048469 ! negatively regulates cell maturation + +[Term] +id: GO:1903431 +name: positive regulation of cell maturation +def: "Any process that activates or increases the frequency, rate or extent of cell maturation." [] +synonym: "activation of cell maturation" NARROW [] +synonym: "activation of functional differentiation" RELATED [] +synonym: "positive regulation of functional differentiation" RELATED [] +synonym: "up regulation of cell maturation" EXACT [] +synonym: "up regulation of functional differentiation" RELATED [] +synonym: "up-regulation of cell maturation" EXACT [] +synonym: "up-regulation of functional differentiation" RELATED [] +synonym: "upregulation of cell maturation" EXACT [] +synonym: "upregulation of functional differentiation" RELATED [] +is_a: GO:0010720 ! positive regulation of cell development +is_a: GO:1903429 ! regulation of cell maturation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0048469 ! positively regulates cell maturation +relationship: RO:0002213 GO:0048469 ! positively regulates cell maturation + [Term] id: GO:1903487 name: regulation of lactation @@ -23546,6 +30314,46 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0032940 ! positively regulates secretion by cell relationship: RO:0002213 GO:0032940 ! positively regulates secretion by cell +[Term] +id: GO:1903551 +name: regulation of extracellular exosome assembly +def: "Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly." [] +synonym: "regulation of extracellular vesicular exosome assembly" EXACT [] +is_a: GO:1902115 ! regulation of organelle assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0071971 ! regulates extracellular exosome assembly +relationship: RO:0002211 GO:0071971 ! regulates extracellular exosome assembly + +[Term] +id: GO:1903552 +name: negative regulation of extracellular exosome assembly +def: "Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly." [] +synonym: "down regulation of extracellular vesicular exosome assembly" EXACT [] +synonym: "down-regulation of extracellular vesicular exosome assembly" EXACT [] +synonym: "downregulation of extracellular vesicular exosome assembly" EXACT [] +synonym: "inhibition of extracellular vesicular exosome assembly" NARROW [] +synonym: "negative regulation of extracellular vesicular exosome assembly" EXACT [] +is_a: GO:1902116 ! negative regulation of organelle assembly +is_a: GO:1903551 ! regulation of extracellular exosome assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0071971 ! negatively regulates extracellular exosome assembly +relationship: RO:0002212 GO:0071971 ! negatively regulates extracellular exosome assembly + +[Term] +id: GO:1903553 +name: positive regulation of extracellular exosome assembly +def: "Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly." [] +synonym: "activation of extracellular vesicular exosome assembly" NARROW [] +synonym: "positive regulation of extracellular vesicular exosome assembly" RELATED [] +synonym: "up regulation of extracellular vesicular exosome assembly" EXACT [] +synonym: "up-regulation of extracellular vesicular exosome assembly" EXACT [] +synonym: "upregulation of extracellular vesicular exosome assembly" EXACT [] +is_a: GO:1902117 ! positive regulation of organelle assembly +is_a: GO:1903551 ! regulation of extracellular exosome assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0071971 ! positively regulates extracellular exosome assembly +relationship: RO:0002213 GO:0071971 ! positively regulates extracellular exosome assembly + [Term] id: GO:1903561 name: extracellular vesicle @@ -23556,6 +30364,43 @@ is_a: GO:0043230 ! extracellular organelle intersection_of: GO:0031982 ! vesicle intersection_of: BFO:0000050 GO:0005576 ! part of extracellular region +[Term] +id: GO:1903564 +name: regulation of protein localization to cilium +def: "Any process that modulates the frequency, rate or extent of protein localization to cilium." [] +is_a: GO:1903827 ! regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0061512 ! regulates protein localization to cilium +relationship: RO:0002211 GO:0061512 ! regulates protein localization to cilium + +[Term] +id: GO:1903565 +name: negative regulation of protein localization to cilium +def: "Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium." [] +synonym: "down regulation of protein localization to cilium" EXACT [] +synonym: "down-regulation of protein localization to cilium" EXACT [] +synonym: "downregulation of protein localization to cilium" EXACT [] +synonym: "inhibition of protein localization to cilium" NARROW [] +is_a: GO:1903564 ! regulation of protein localization to cilium +is_a: GO:1903828 ! negative regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0061512 ! negatively regulates protein localization to cilium +relationship: RO:0002212 GO:0061512 ! negatively regulates protein localization to cilium + +[Term] +id: GO:1903566 +name: positive regulation of protein localization to cilium +def: "Any process that activates or increases the frequency, rate or extent of protein localization to cilium." [] +synonym: "activation of protein localization to cilium" NARROW [] +synonym: "up regulation of protein localization to cilium" EXACT [] +synonym: "up-regulation of protein localization to cilium" EXACT [] +synonym: "upregulation of protein localization to cilium" EXACT [] +is_a: GO:1903564 ! regulation of protein localization to cilium +is_a: GO:1903829 ! positive regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0061512 ! positively regulates protein localization to cilium +relationship: RO:0002213 GO:0061512 ! positively regulates protein localization to cilium + [Term] id: GO:1903578 name: regulation of ATP metabolic process @@ -24195,6 +31040,73 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0098661 ! positively regulates inorganic anion transmembrane transport relationship: RO:0002213 GO:0098661 ! positively regulates inorganic anion transmembrane transport +[Term] +id: GO:1903825 +name: organic acid transmembrane transport +def: "The process in which an organic acid is transported across a membrane." [] +is_a: GO:0015849 ! organic acid transport +is_a: GO:0055085 ! transmembrane transport + +[Term] +id: GO:1903827 +name: regulation of cellular protein localization +def: "Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." [] +synonym: "regulation of cellular protein localisation" EXACT [] +synonym: "regulation of channel localizer activity" NARROW [] +is_a: GO:0032880 ! regulation of protein localization +is_a: GO:0060341 ! regulation of cellular localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0034613 ! regulates cellular protein localization +relationship: RO:0002211 GO:0034613 ! regulates cellular protein localization + +[Term] +id: GO:1903828 +name: negative regulation of cellular protein localization +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." [] +synonym: "down regulation of cellular protein localisation" EXACT [] +synonym: "down regulation of cellular protein localization" EXACT [] +synonym: "down regulation of channel localizer activity" NARROW [] +synonym: "down-regulation of cellular protein localisation" EXACT [] +synonym: "down-regulation of cellular protein localization" EXACT [] +synonym: "down-regulation of channel localizer activity" NARROW [] +synonym: "downregulation of cellular protein localisation" EXACT [] +synonym: "downregulation of cellular protein localization" EXACT [] +synonym: "downregulation of channel localizer activity" NARROW [] +synonym: "inhibition of cellular protein localisation" NARROW [] +synonym: "inhibition of cellular protein localization" NARROW [] +synonym: "inhibition of channel localizer activity" NARROW [] +synonym: "negative regulation of cellular protein localisation" EXACT [] +synonym: "negative regulation of channel localizer activity" NARROW [] +is_a: GO:0048519 ! negative regulation of biological process +is_a: GO:1903827 ! regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0034613 ! negatively regulates cellular protein localization +relationship: RO:0002212 GO:0034613 ! negatively regulates cellular protein localization + +[Term] +id: GO:1903829 +name: positive regulation of cellular protein localization +def: "Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell." [] +synonym: "activation of cellular protein localisation" NARROW [] +synonym: "activation of cellular protein localization" NARROW [] +synonym: "activation of channel localizer activity" NARROW [] +synonym: "positive regulation of cellular protein localisation" EXACT [] +synonym: "positive regulation of channel localizer activity" NARROW [] +synonym: "up regulation of cellular protein localisation" EXACT [] +synonym: "up regulation of cellular protein localization" EXACT [] +synonym: "up regulation of channel localizer activity" NARROW [] +synonym: "up-regulation of cellular protein localisation" EXACT [] +synonym: "up-regulation of cellular protein localization" EXACT [] +synonym: "up-regulation of channel localizer activity" NARROW [] +synonym: "upregulation of cellular protein localisation" EXACT [] +synonym: "upregulation of cellular protein localization" EXACT [] +synonym: "upregulation of channel localizer activity" NARROW [] +is_a: GO:0048518 ! positive regulation of biological process +is_a: GO:1903827 ! regulation of cellular protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0034613 ! positively regulates cellular protein localization +relationship: RO:0002213 GO:0034613 ! positively regulates cellular protein localization + [Term] id: GO:1903862 name: positive regulation of oxidative phosphorylation @@ -24436,6 +31348,29 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0098655 ! positively regulates cation transmembrane transport relationship: RO:0002213 GO:0098655 ! positively regulates cation transmembrane transport +[Term] +id: GO:1904081 +name: positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation +def: "Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation." [] +synonym: "activation of global transcription from RNA polymerase II promoter involved in neuron differentiation" RELATED [] +synonym: "activation of transcription from RNA polymerase II promoter involved in neuron differentiation" EXACT [] +synonym: "positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation" RELATED [] +synonym: "positive regulation of global transcription from Pol II promoter involved in neuron differentiation" RELATED [] +synonym: "positive regulation of transcription from Pol II promoter involved in neuron differentiation" EXACT [] +synonym: "positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation" RELATED [] +synonym: "stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation" NARROW [] +synonym: "stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation" EXACT [] +synonym: "up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation" RELATED [] +synonym: "up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation" EXACT [] +synonym: "up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation" RELATED [] +synonym: "up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation" EXACT [] +synonym: "upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation" RELATED [] +synonym: "upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation" EXACT [] +is_a: GO:0045944 ! positive regulation of transcription by RNA polymerase II +intersection_of: GO:0045944 ! positive regulation of transcription by RNA polymerase II +intersection_of: BFO:0000050 GO:0030182 ! part of neuron differentiation +relationship: BFO:0000050 GO:0030182 ! part of neuron differentiation + [Term] id: GO:1904098 name: regulation of protein O-linked glycosylation @@ -24535,6 +31470,136 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0004887 ! positively regulates thyroid hormone receptor activity relationship: RO:0002213 GO:0004887 ! positively regulates thyroid hormone receptor activity +[Term] +id: GO:1904170 +name: regulation of bleb assembly +def: "Any process that modulates the frequency, rate or extent of bleb assembly." [] +synonym: "regulation of cell blebbing" EXACT [] +is_a: GO:0120032 ! regulation of plasma membrane bounded cell projection assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032060 ! regulates bleb assembly +relationship: RO:0002211 GO:0032060 ! regulates bleb assembly + +[Term] +id: GO:1904171 +name: negative regulation of bleb assembly +def: "Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly." [] +synonym: "down regulation of bleb assembly" EXACT [] +synonym: "down regulation of cell blebbing" EXACT [] +synonym: "down-regulation of bleb assembly" EXACT [] +synonym: "down-regulation of cell blebbing" EXACT [] +synonym: "downregulation of bleb assembly" EXACT [] +synonym: "downregulation of cell blebbing" EXACT [] +synonym: "inhibition of bleb assembly" NARROW [] +synonym: "inhibition of cell blebbing" NARROW [] +synonym: "negative regulation of cell blebbing" EXACT [] +is_a: GO:0120033 ! negative regulation of plasma membrane bounded cell projection assembly +is_a: GO:1904170 ! regulation of bleb assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032060 ! negatively regulates bleb assembly +relationship: RO:0002212 GO:0032060 ! negatively regulates bleb assembly + +[Term] +id: GO:1904172 +name: positive regulation of bleb assembly +def: "Any process that activates or increases the frequency, rate or extent of bleb assembly." [] +synonym: "activation of bleb assembly" NARROW [] +synonym: "activation of cell blebbing" NARROW [] +synonym: "positive regulation of cell blebbing" EXACT [] +synonym: "up regulation of bleb assembly" EXACT [] +synonym: "up regulation of cell blebbing" EXACT [] +synonym: "up-regulation of bleb assembly" EXACT [] +synonym: "up-regulation of cell blebbing" EXACT [] +synonym: "upregulation of bleb assembly" EXACT [] +synonym: "upregulation of cell blebbing" EXACT [] +is_a: GO:0120034 ! positive regulation of plasma membrane bounded cell projection assembly +is_a: GO:1904170 ! regulation of bleb assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032060 ! positively regulates bleb assembly +relationship: RO:0002213 GO:0032060 ! positively regulates bleb assembly + +[Term] +id: GO:1904220 +name: regulation of serine C-palmitoyltransferase activity +def: "Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity." [] +synonym: "regulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "regulation of serine palmitoyltransferase" BROAD [] +synonym: "regulation of SPT" RELATED [] +is_a: GO:0051338 ! regulation of transferase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004758 ! regulates serine C-palmitoyltransferase activity +relationship: RO:0002211 GO:0004758 ! regulates serine C-palmitoyltransferase activity + +[Term] +id: GO:1904221 +name: negative regulation of serine C-palmitoyltransferase activity +def: "Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity." [] +synonym: "down regulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "down regulation of serine C-palmitoyltransferase activity" EXACT [] +synonym: "down regulation of SPT" RELATED [] +synonym: "down-regulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "down-regulation of serine C-palmitoyltransferase activity" EXACT [] +synonym: "down-regulation of SPT" RELATED [] +synonym: "downregulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "downregulation of serine C-palmitoyltransferase activity" EXACT [] +synonym: "downregulation of SPT" RELATED [] +synonym: "inhibition of 3-oxosphinganine synthetase activity" NARROW [] +synonym: "inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" NARROW [] +synonym: "inhibition of serine C-palmitoyltransferase activity" NARROW [] +synonym: "inhibition of SPT" RELATED [] +synonym: "negative regulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "negative regulation of SPT" RELATED [] +is_a: GO:0051348 ! negative regulation of transferase activity +is_a: GO:1904220 ! regulation of serine C-palmitoyltransferase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0004758 ! negatively regulates serine C-palmitoyltransferase activity +relationship: RO:0002212 GO:0004758 ! negatively regulates serine C-palmitoyltransferase activity + +[Term] +id: GO:1904222 +name: positive regulation of serine C-palmitoyltransferase activity +def: "Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity." [] +synonym: "activation of 3-oxosphinganine synthetase activity" NARROW [] +synonym: "activation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" NARROW [] +synonym: "activation of serine C-palmitoyltransferase activity" NARROW [] +synonym: "activation of SPT" RELATED [] +synonym: "positive regulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "positive regulation of SPT" RELATED [] +synonym: "up regulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "up regulation of serine C-palmitoyltransferase activity" EXACT [] +synonym: "up regulation of SPT" RELATED [] +synonym: "up-regulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "up-regulation of serine C-palmitoyltransferase activity" EXACT [] +synonym: "up-regulation of SPT" RELATED [] +synonym: "upregulation of 3-oxosphinganine synthetase activity" EXACT [] +synonym: "upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating" RELATED [] +synonym: "upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity" EXACT [] +synonym: "upregulation of serine C-palmitoyltransferase activity" EXACT [] +synonym: "upregulation of SPT" RELATED [] +is_a: GO:0051347 ! positive regulation of transferase activity +is_a: GO:1904220 ! regulation of serine C-palmitoyltransferase activity +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:1904251 name: regulation of bile acid metabolic process @@ -24597,6 +31662,105 @@ is_a: GO:0099529 ! neurotransmitter receptor activity involved in regulation of intersection_of: GO:0022824 ! transmitter-gated ion channel activity intersection_of: BFO:0000050 GO:0060078 ! part of regulation of postsynaptic membrane potential +[Term] +id: GO:1904362 +name: regulation of calcitonin secretion +def: "Any process that modulates the frequency, rate or extent of calcitonin secretion." [] +is_a: GO:0090276 ! regulation of peptide hormone secretion +is_a: GO:2001023 ! regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0036161 ! regulates calcitonin secretion +relationship: RO:0002211 GO:0036161 ! regulates calcitonin secretion + +[Term] +id: GO:1904363 +name: negative regulation of calcitonin secretion +def: "Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion." [] +synonym: "down regulation of calcitonin secretion" EXACT [] +synonym: "down-regulation of calcitonin secretion" EXACT [] +synonym: "downregulation of calcitonin secretion" EXACT [] +synonym: "inhibition of calcitonin secretion" NARROW [] +is_a: GO:0090278 ! negative regulation of peptide hormone secretion +is_a: GO:1904362 ! regulation of calcitonin secretion +is_a: GO:2001024 ! negative regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0036161 ! negatively regulates calcitonin secretion +relationship: RO:0002212 GO:0036161 ! negatively regulates calcitonin secretion + +[Term] +id: GO:1904364 +name: positive regulation of calcitonin secretion +def: "Any process that activates or increases the frequency, rate or extent of calcitonin secretion." [] +synonym: "activation of calcitonin secretion" NARROW [] +synonym: "up regulation of calcitonin secretion" EXACT [] +synonym: "up-regulation of calcitonin secretion" EXACT [] +synonym: "upregulation of calcitonin secretion" EXACT [] +is_a: GO:0090277 ! positive regulation of peptide hormone secretion +is_a: GO:1904362 ! regulation of calcitonin secretion +is_a: GO:2001025 ! positive regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0036161 ! positively regulates calcitonin secretion +relationship: RO:0002213 GO:0036161 ! positively regulates calcitonin secretion + +[Term] +id: GO:1904409 +name: regulation of secretory granule organization +def: "Any process that modulates the frequency, rate or extent of secretory granule organization." [] +synonym: "regulation of secretory granule organisation" EXACT [] +synonym: "regulation of secretory granule organization and biogenesis" RELATED [] +is_a: GO:0033043 ! regulation of organelle organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0033363 ! regulates secretory granule organization +relationship: RO:0002211 GO:0033363 ! regulates secretory granule organization + +[Term] +id: GO:1904410 +name: negative regulation of secretory granule organization +def: "Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization." [] +synonym: "down regulation of secretory granule organisation" EXACT [] +synonym: "down regulation of secretory granule organization" EXACT [] +synonym: "down regulation of secretory granule organization and biogenesis" RELATED [] +synonym: "down-regulation of secretory granule organisation" EXACT [] +synonym: "down-regulation of secretory granule organization" EXACT [] +synonym: "down-regulation of secretory granule organization and biogenesis" RELATED [] +synonym: "downregulation of secretory granule organisation" EXACT [] +synonym: "downregulation of secretory granule organization" EXACT [] +synonym: "downregulation of secretory granule organization and biogenesis" RELATED [] +synonym: "inhibition of secretory granule organisation" NARROW [] +synonym: "inhibition of secretory granule organization" NARROW [] +synonym: "inhibition of secretory granule organization and biogenesis" RELATED [] +synonym: "negative regulation of secretory granule organisation" EXACT [] +synonym: "negative regulation of secretory granule organization and biogenesis" RELATED [] +is_a: GO:0010639 ! negative regulation of organelle organization +is_a: GO:1904409 ! regulation of secretory granule organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0033363 ! negatively regulates secretory granule organization +relationship: RO:0002212 GO:0033363 ! negatively regulates secretory granule organization + +[Term] +id: GO:1904411 +name: positive regulation of secretory granule organization +def: "Any process that activates or increases the frequency, rate or extent of secretory granule organization." [] +synonym: "activation of secretory granule organisation" NARROW [] +synonym: "activation of secretory granule organization" NARROW [] +synonym: "activation of secretory granule organization and biogenesis" RELATED [] +synonym: "positive regulation of secretory granule organisation" EXACT [] +synonym: "positive regulation of secretory granule organization and biogenesis" RELATED [] +synonym: "up regulation of secretory granule organisation" EXACT [] +synonym: "up regulation of secretory granule organization" EXACT [] +synonym: "up regulation of secretory granule organization and biogenesis" RELATED [] +synonym: "up-regulation of secretory granule organisation" EXACT [] +synonym: "up-regulation of secretory granule organization" EXACT [] +synonym: "up-regulation of secretory granule organization and biogenesis" RELATED [] +synonym: "upregulation of secretory granule organisation" EXACT [] +synonym: "upregulation of secretory granule organization" EXACT [] +synonym: "upregulation of secretory granule organization and biogenesis" RELATED [] +is_a: GO:0010638 ! positive regulation of organelle organization +is_a: GO:1904409 ! regulation of secretory granule organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0033363 ! positively regulates secretory granule organization +relationship: RO:0002213 GO:0033363 ! positively regulates secretory granule organization + [Term] id: GO:1904427 name: positive regulation of calcium ion transmembrane transport @@ -24717,6 +31881,54 @@ def: "The process in which glucose is transported across a membrane." [] synonym: "glucose transport" RELATED [] is_a: GO:0008645 ! hexose transmembrane transport +[Term] +id: GO:1904675 +name: regulation of somatic stem cell division +def: "Any process that modulates the frequency, rate or extent of somatic stem cell division." [] +synonym: "regulation of somatic stem cell renewal" EXACT [] +is_a: GO:2000035 ! regulation of stem cell division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0048103 ! regulates somatic stem cell division +relationship: RO:0002211 GO:0048103 ! regulates somatic stem cell division + +[Term] +id: GO:1904676 +name: negative regulation of somatic stem cell division +def: "Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division." [] +synonym: "down regulation of somatic stem cell division" EXACT [] +synonym: "down regulation of somatic stem cell renewal" EXACT [] +synonym: "down-regulation of somatic stem cell division" EXACT [] +synonym: "down-regulation of somatic stem cell renewal" EXACT [] +synonym: "downregulation of somatic stem cell division" EXACT [] +synonym: "downregulation of somatic stem cell renewal" EXACT [] +synonym: "inhibition of somatic stem cell division" NARROW [] +synonym: "inhibition of somatic stem cell renewal" NARROW [] +synonym: "negative regulation of somatic stem cell renewal" EXACT [] +is_a: GO:0051782 ! negative regulation of cell division +is_a: GO:1904675 ! regulation of somatic stem cell division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0048103 ! negatively regulates somatic stem cell division +relationship: RO:0002212 GO:0048103 ! negatively regulates somatic stem cell division + +[Term] +id: GO:1904677 +name: positive regulation of somatic stem cell division +def: "Any process that activates or increases the frequency, rate or extent of somatic stem cell division." [] +synonym: "activation of somatic stem cell division" NARROW [] +synonym: "activation of somatic stem cell renewal" NARROW [] +synonym: "positive regulation of somatic stem cell renewal" EXACT [] +synonym: "up regulation of somatic stem cell division" EXACT [] +synonym: "up regulation of somatic stem cell renewal" EXACT [] +synonym: "up-regulation of somatic stem cell division" EXACT [] +synonym: "up-regulation of somatic stem cell renewal" EXACT [] +synonym: "upregulation of somatic stem cell division" EXACT [] +synonym: "upregulation of somatic stem cell renewal" EXACT [] +is_a: GO:0051781 ! positive regulation of cell division +is_a: GO:1904675 ! regulation of somatic stem cell division +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:1904729 name: regulation of intestinal lipid absorption @@ -24757,6 +31969,354 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0098856 ! positively regulates intestinal lipid absorption relationship: RO:0002213 GO:0098856 ! positively regulates intestinal lipid absorption +[Term] +id: GO:1904746 +name: negative regulation of apoptotic process involved in development +def: "Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development." [] +synonym: "down regulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "down regulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "down regulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "down regulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "down regulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "down regulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "down regulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "down regulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "down regulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "down regulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "down regulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "down regulation of apoptotic process involved in development" EXACT [] +synonym: "down regulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "down regulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "down regulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "down regulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "down regulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "down regulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "down regulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "down regulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "down regulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "down regulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "down regulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "down regulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "down regulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "down regulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "down regulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "down regulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "down-regulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "down-regulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "down-regulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "down-regulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "down-regulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "down-regulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "down-regulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "down-regulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "down-regulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "down-regulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "down-regulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "down-regulation of apoptotic process involved in development" EXACT [] +synonym: "down-regulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "down-regulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "down-regulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "down-regulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "down-regulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "down-regulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "down-regulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "down-regulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "down-regulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "down-regulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "down-regulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "down-regulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "down-regulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "down-regulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "downregulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "downregulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "downregulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "downregulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "downregulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "downregulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "downregulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "downregulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "downregulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "downregulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "downregulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "downregulation of apoptotic process involved in development" EXACT [] +synonym: "downregulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "downregulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "downregulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "downregulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "downregulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "downregulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "downregulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "downregulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "downregulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "downregulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "downregulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "downregulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "downregulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "downregulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "downregulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "downregulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "inhibition of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "inhibition of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "inhibition of apoptosis involved in anatomical structure development" NARROW [] +synonym: "inhibition of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "inhibition of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of apoptotic cell death involved in anatomical structure development" NARROW [] +synonym: "inhibition of apoptotic cell death involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of apoptotic process involved in anatomical structure development" NARROW [] +synonym: "inhibition of apoptotic process involved in development" NARROW [] +synonym: "inhibition of apoptotic process involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "inhibition of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of apoptotic programmed cell death involved in anatomical structure development" NARROW [] +synonym: "inhibition of apoptotic programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "inhibition of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "inhibition of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "inhibition of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "inhibition of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "inhibition of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "inhibition of programmed cell death by apoptosis involved in anatomical structure development" NARROW [] +synonym: "inhibition of programmed cell death by apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "inhibition of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "inhibition of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "inhibition of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "negative regulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "negative regulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "negative regulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "negative regulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "negative regulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "negative regulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "negative regulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "negative regulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "negative regulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "negative regulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "negative regulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "negative regulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "negative regulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "negative regulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "negative regulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "negative regulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "negative regulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "negative regulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "negative regulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "negative regulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "negative regulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "negative regulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "negative regulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "negative regulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "negative regulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +is_a: GO:0043066 ! negative regulation of apoptotic process +is_a: GO:0051093 ! negative regulation of developmental process +is_a: GO:1904748 ! regulation of apoptotic process involved in development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:1902742 ! negatively regulates apoptotic process involved in development +relationship: RO:0002212 GO:1902742 ! negatively regulates apoptotic process involved in development + +[Term] +id: GO:1904747 +name: positive regulation of apoptotic process involved in development +def: "Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development." [] +synonym: "activation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "activation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "activation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "activation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "activation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "activation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "activation of apoptotic cell death involved in anatomical structure development" NARROW [] +synonym: "activation of apoptotic cell death involved in development of an anatomical structure" NARROW [] +synonym: "activation of apoptotic process involved in anatomical structure development" NARROW [] +synonym: "activation of apoptotic process involved in development" NARROW [] +synonym: "activation of apoptotic process involved in development of an anatomical structure" NARROW [] +synonym: "activation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "activation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "activation of apoptotic programmed cell death involved in anatomical structure development" NARROW [] +synonym: "activation of apoptotic programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "activation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "activation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "activation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "activation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "activation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "activation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "activation of programmed cell death by apoptosis involved in anatomical structure development" NARROW [] +synonym: "activation of programmed cell death by apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "activation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "activation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "activation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "activation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "positive regulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "positive regulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "positive regulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "positive regulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "positive regulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "positive regulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "positive regulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "positive regulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "positive regulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "positive regulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "positive regulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "positive regulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "positive regulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "positive regulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "positive regulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "positive regulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "positive regulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "positive regulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "positive regulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "positive regulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "positive regulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "positive regulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "positive regulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "positive regulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "positive regulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "up regulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "up regulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "up regulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "up regulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "up regulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "up regulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "up regulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "up regulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "up regulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "up regulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "up regulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "up regulation of apoptotic process involved in development" EXACT [] +synonym: "up regulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "up regulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "up regulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "up regulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "up regulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "up regulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "up regulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "up regulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "up regulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "up regulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "up regulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "up regulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "up regulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "up regulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "up regulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "up regulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "up-regulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "up-regulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "up-regulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "up-regulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "up-regulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "up-regulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "up-regulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "up-regulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "up-regulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "up-regulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "up-regulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "up-regulation of apoptotic process involved in development" EXACT [] +synonym: "up-regulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "up-regulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "up-regulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "up-regulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "up-regulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "up-regulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "up-regulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "up-regulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "up-regulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "up-regulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "up-regulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "up-regulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "up-regulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "up-regulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +synonym: "upregulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "upregulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "upregulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "upregulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "upregulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "upregulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "upregulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "upregulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "upregulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "upregulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "upregulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "upregulation of apoptotic process involved in development" EXACT [] +synonym: "upregulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "upregulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "upregulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "upregulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "upregulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "upregulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "upregulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "upregulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "upregulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "upregulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "upregulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "upregulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "upregulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "upregulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "upregulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "upregulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +is_a: GO:0043065 ! positive regulation of apoptotic process +is_a: GO:0051094 ! positive regulation of developmental process +is_a: GO:1904748 ! regulation of apoptotic process involved in development +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:1902742 ! positively regulates apoptotic process involved in development +relationship: RO:0002213 GO:1902742 ! positively regulates apoptotic process involved in development + +[Term] +id: GO:1904748 +name: regulation of apoptotic process involved in development +def: "Any process that modulates the frequency, rate or extent of apoptotic process involved in development." [] +synonym: "regulation of activation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "regulation of activation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "regulation of apoptosis activator activity involved in anatomical structure development" RELATED [] +synonym: "regulation of apoptosis activator activity involved in development of an anatomical structure" RELATED [] +synonym: "regulation of apoptosis involved in anatomical structure development" NARROW [] +synonym: "regulation of apoptosis involved in development of an anatomical structure" NARROW [] +synonym: "regulation of apoptosis signaling involved in anatomical structure development" NARROW [] +synonym: "regulation of apoptosis signaling involved in development of an anatomical structure" NARROW [] +synonym: "regulation of apoptotic cell death involved in anatomical structure development" EXACT [] +synonym: "regulation of apoptotic cell death involved in development of an anatomical structure" EXACT [] +synonym: "regulation of apoptotic process involved in anatomical structure development" EXACT [] +synonym: "regulation of apoptotic process involved in development of an anatomical structure" EXACT [] +synonym: "regulation of apoptotic program involved in anatomical structure development" NARROW [] +synonym: "regulation of apoptotic program involved in development of an anatomical structure" NARROW [] +synonym: "regulation of apoptotic programmed cell death involved in anatomical structure development" EXACT [] +synonym: "regulation of apoptotic programmed cell death involved in development of an anatomical structure" EXACT [] +synonym: "regulation of commitment to apoptosis involved in anatomical structure development" RELATED [] +synonym: "regulation of commitment to apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "regulation of induction of apoptosis by p53 involved in anatomical structure development" RELATED [] +synonym: "regulation of induction of apoptosis by p53 involved in development of an anatomical structure" RELATED [] +synonym: "regulation of induction of apoptosis involved in anatomical structure development" RELATED [] +synonym: "regulation of induction of apoptosis involved in development of an anatomical structure" RELATED [] +synonym: "regulation of programmed cell death by apoptosis involved in anatomical structure development" EXACT [] +synonym: "regulation of programmed cell death by apoptosis involved in development of an anatomical structure" EXACT [] +synonym: "regulation of signaling (initiator) caspase activity involved in anatomical structure development" RELATED [] +synonym: "regulation of signaling (initiator) caspase activity involved in development of an anatomical structure" RELATED [] +synonym: "regulation of type I programmed cell death involved in anatomical structure development" NARROW [] +synonym: "regulation of type I programmed cell death involved in development of an anatomical structure" NARROW [] +is_a: GO:0042981 ! regulation of apoptotic process +is_a: GO:0050793 ! regulation of developmental process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:1902742 ! regulates apoptotic process involved in development +relationship: RO:0002211 GO:1902742 ! regulates apoptotic process involved in development + [Term] id: GO:1904774 name: negative regulation of ubiquinone biosynthetic process @@ -24979,6 +32539,64 @@ 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:1904950 +name: negative regulation of establishment of protein localization +def: "Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization." [] +synonym: "down regulation of establishment of protein localisation" EXACT [] +synonym: "down regulation of establishment of protein localization" EXACT [] +synonym: "down regulation of protein positioning" EXACT [] +synonym: "down regulation of protein recruitment" EXACT [] +synonym: "down-regulation of establishment of protein localisation" EXACT [] +synonym: "down-regulation of establishment of protein localization" EXACT [] +synonym: "down-regulation of protein positioning" EXACT [] +synonym: "down-regulation of protein recruitment" EXACT [] +synonym: "downregulation of establishment of protein localisation" EXACT [] +synonym: "downregulation of establishment of protein localization" EXACT [] +synonym: "downregulation of protein positioning" EXACT [] +synonym: "downregulation of protein recruitment" EXACT [] +synonym: "inhibition of establishment of protein localisation" NARROW [] +synonym: "inhibition of establishment of protein localization" NARROW [] +synonym: "inhibition of protein positioning" NARROW [] +synonym: "inhibition of protein recruitment" NARROW [] +synonym: "negative regulation of establishment of protein localisation" EXACT [] +synonym: "negative regulation of protein positioning" EXACT [] +synonym: "negative regulation of protein recruitment" EXACT [] +is_a: GO:0048519 ! negative regulation of biological process +is_a: GO:0070201 ! regulation of establishment of protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0045184 ! negatively regulates establishment of protein localization +relationship: RO:0002212 GO:0045184 ! negatively regulates establishment of protein localization + +[Term] +id: GO:1904951 +name: positive regulation of establishment of protein localization +def: "Any process that activates or increases the frequency, rate or extent of establishment of protein localization." [] +synonym: "activation of establishment of protein localisation" NARROW [] +synonym: "activation of establishment of protein localization" NARROW [] +synonym: "activation of protein positioning" NARROW [] +synonym: "activation of protein recruitment" NARROW [] +synonym: "positive regulation of establishment of protein localisation" EXACT [] +synonym: "positive regulation of protein positioning" EXACT [] +synonym: "positive regulation of protein recruitment" EXACT [] +synonym: "up regulation of establishment of protein localisation" EXACT [] +synonym: "up regulation of establishment of protein localization" EXACT [] +synonym: "up regulation of protein positioning" EXACT [] +synonym: "up regulation of protein recruitment" EXACT [] +synonym: "up-regulation of establishment of protein localisation" EXACT [] +synonym: "up-regulation of establishment of protein localization" EXACT [] +synonym: "up-regulation of protein positioning" EXACT [] +synonym: "up-regulation of protein recruitment" EXACT [] +synonym: "upregulation of establishment of protein localisation" EXACT [] +synonym: "upregulation of establishment of protein localization" EXACT [] +synonym: "upregulation of protein positioning" EXACT [] +synonym: "upregulation of protein recruitment" EXACT [] +is_a: GO:0048518 ! positive regulation of biological process +is_a: GO:0070201 ! regulation of establishment of protein localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0045184 ! positively regulates establishment of protein localization +relationship: RO:0002213 GO:0045184 ! positively regulates establishment of protein localization + [Term] id: GO:1905030 name: voltage-gated ion channel activity involved in regulation of postsynaptic membrane potential @@ -25004,6 +32622,14 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0006643 ! regulates membrane lipid metabolic process relationship: RO:0002211 GO:0006643 ! regulates membrane lipid metabolic process +[Term] +id: GO:1905039 +name: carboxylic acid transmembrane transport +def: "The process in which carboxylic acid is transported across a membrane." [] +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:1905114 name: cell surface receptor signaling pathway involved in cell-cell signaling @@ -25020,6 +32646,189 @@ intersection_of: GO:0007166 ! cell surface receptor signaling pathway intersection_of: BFO:0000050 GO:0007267 ! part of cell-cell signaling relationship: BFO:0000050 GO:0007267 ! part of cell-cell signaling +[Term] +id: GO:1905123 +name: regulation of glucosylceramidase activity +def: "Any process that modulates the frequency, rate or extent of glucosylceramidase activity." [] +synonym: "regulation of acid beta-glucosidase activity" EXACT [] +synonym: "regulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "regulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "regulation of beta-glucosylceramidase activity" EXACT [] +synonym: "regulation of ceramide glucosidase activity" EXACT [] +synonym: "regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "regulation of GCase activity" EXACT [] +synonym: "regulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "regulation of glucocerebrosidase activity" EXACT [] +synonym: "regulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "regulation of glucosylcerebrosidase activity" EXACT [] +synonym: "regulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "regulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "regulation of psychosine hydrolase activity" EXACT [] +is_a: GO:0051336 ! regulation of hydrolase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004348 ! regulates glucosylceramidase activity +relationship: RO:0002211 GO:0004348 ! regulates glucosylceramidase activity + +[Term] +id: GO:1905124 +name: negative regulation of glucosylceramidase activity +def: "Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity." [] +synonym: "down regulation of acid beta-glucosidase activity" EXACT [] +synonym: "down regulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "down regulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "down regulation of beta-glucosylceramidase activity" EXACT [] +synonym: "down regulation of ceramide glucosidase activity" EXACT [] +synonym: "down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "down regulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "down regulation of glucocerebrosidase activity" EXACT [] +synonym: "down regulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "down regulation of glucosylceramidase activity" EXACT [] +synonym: "down regulation of glucosylcerebrosidase activity" EXACT [] +synonym: "down regulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "down regulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "down regulation of psychosine hydrolase activity" EXACT [] +synonym: "down-regulation of acid beta-glucosidase activity" EXACT [] +synonym: "down-regulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "down-regulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "down-regulation of beta-glucosylceramidase activity" EXACT [] +synonym: "down-regulation of ceramide glucosidase activity" EXACT [] +synonym: "down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "down-regulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "down-regulation of glucocerebrosidase activity" EXACT [] +synonym: "down-regulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "down-regulation of glucosylceramidase activity" EXACT [] +synonym: "down-regulation of glucosylcerebrosidase activity" EXACT [] +synonym: "down-regulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "down-regulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "down-regulation of psychosine hydrolase activity" EXACT [] +synonym: "downregulation of acid beta-glucosidase activity" EXACT [] +synonym: "downregulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "downregulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "downregulation of beta-glucosylceramidase activity" EXACT [] +synonym: "downregulation of ceramide glucosidase activity" EXACT [] +synonym: "downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "downregulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "downregulation of glucocerebrosidase activity" EXACT [] +synonym: "downregulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "downregulation of glucosylceramidase activity" EXACT [] +synonym: "downregulation of glucosylcerebrosidase activity" EXACT [] +synonym: "downregulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "downregulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "downregulation of psychosine hydrolase activity" EXACT [] +synonym: "inhibition of acid beta-glucosidase activity" NARROW [] +synonym: "inhibition of beta-D-glucocerebrosidase activity" NARROW [] +synonym: "inhibition of beta-glucocerebrosidase activity" NARROW [] +synonym: "inhibition of beta-glucosylceramidase activity" NARROW [] +synonym: "inhibition of ceramide glucosidase activity" NARROW [] +synonym: "inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity" NARROW [] +synonym: "inhibition of GlcCer-beta-glucosidase activity" NARROW [] +synonym: "inhibition of glucocerebrosidase activity" NARROW [] +synonym: "inhibition of glucosphingosine glucosylhydrolase activity" NARROW [] +synonym: "inhibition of glucosylceramidase activity" NARROW [] +synonym: "inhibition of glucosylcerebrosidase activity" NARROW [] +synonym: "inhibition of glucosylsphingosine beta-D-glucosidase activity" NARROW [] +synonym: "inhibition of glucosylsphingosine beta-glucosidase activity" NARROW [] +synonym: "inhibition of psychosine hydrolase activity" NARROW [] +synonym: "negative regulation of acid beta-glucosidase activity" EXACT [] +synonym: "negative regulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "negative regulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "negative regulation of beta-glucosylceramidase activity" EXACT [] +synonym: "negative regulation of ceramide glucosidase activity" EXACT [] +synonym: "negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "negative regulation of GCase activity" EXACT [] +synonym: "negative regulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "negative regulation of glucocerebrosidase activity" EXACT [] +synonym: "negative regulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "negative regulation of glucosylcerebrosidase activity" EXACT [] +synonym: "negative regulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "negative regulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "negative regulation of psychosine hydrolase activity" EXACT [] +is_a: GO:0051346 ! negative regulation of hydrolase activity +is_a: GO:1905123 ! regulation of glucosylceramidase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0004348 ! negatively regulates glucosylceramidase activity +relationship: RO:0002212 GO:0004348 ! negatively regulates glucosylceramidase activity + +[Term] +id: GO:1905125 +name: positive regulation of glucosylceramidase activity +def: "Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity." [] +synonym: "activation of acid beta-glucosidase activity" NARROW [] +synonym: "activation of beta-D-glucocerebrosidase activity" NARROW [] +synonym: "activation of beta-glucocerebrosidase activity" NARROW [] +synonym: "activation of beta-glucosylceramidase activity" NARROW [] +synonym: "activation of ceramide glucosidase activity" NARROW [] +synonym: "activation of D-glucosyl-N-acylsphingosine glucohydrolase activity" NARROW [] +synonym: "activation of GlcCer-beta-glucosidase activity" NARROW [] +synonym: "activation of glucocerebrosidase activity" NARROW [] +synonym: "activation of glucosphingosine glucosylhydrolase activity" NARROW [] +synonym: "activation of glucosylceramidase activity" NARROW [] +synonym: "activation of glucosylcerebrosidase activity" NARROW [] +synonym: "activation of glucosylsphingosine beta-D-glucosidase activity" NARROW [] +synonym: "activation of glucosylsphingosine beta-glucosidase activity" NARROW [] +synonym: "activation of psychosine hydrolase activity" NARROW [] +synonym: "positive regulation of acid beta-glucosidase activity" EXACT [] +synonym: "positive regulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "positive regulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "positive regulation of beta-glucosylceramidase activity" EXACT [] +synonym: "positive regulation of ceramide glucosidase activity" EXACT [] +synonym: "positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "positive regulation of GCase activity" EXACT [] +synonym: "positive regulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "positive regulation of glucocerebrosidase activity" EXACT [] +synonym: "positive regulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "positive regulation of glucosylcerebrosidase activity" EXACT [] +synonym: "positive regulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "positive regulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "positive regulation of psychosine hydrolase activity" EXACT [] +synonym: "up regulation of acid beta-glucosidase activity" EXACT [] +synonym: "up regulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "up regulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "up regulation of beta-glucosylceramidase activity" EXACT [] +synonym: "up regulation of ceramide glucosidase activity" EXACT [] +synonym: "up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "up regulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "up regulation of glucocerebrosidase activity" EXACT [] +synonym: "up regulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "up regulation of glucosylceramidase activity" EXACT [] +synonym: "up regulation of glucosylcerebrosidase activity" EXACT [] +synonym: "up regulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "up regulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "up regulation of psychosine hydrolase activity" EXACT [] +synonym: "up-regulation of acid beta-glucosidase activity" EXACT [] +synonym: "up-regulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "up-regulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "up-regulation of beta-glucosylceramidase activity" EXACT [] +synonym: "up-regulation of ceramide glucosidase activity" EXACT [] +synonym: "up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "up-regulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "up-regulation of glucocerebrosidase activity" EXACT [] +synonym: "up-regulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "up-regulation of glucosylceramidase activity" EXACT [] +synonym: "up-regulation of glucosylcerebrosidase activity" EXACT [] +synonym: "up-regulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "up-regulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "up-regulation of psychosine hydrolase activity" EXACT [] +synonym: "upregulation of acid beta-glucosidase activity" EXACT [] +synonym: "upregulation of beta-D-glucocerebrosidase activity" EXACT [] +synonym: "upregulation of beta-glucocerebrosidase activity" EXACT [] +synonym: "upregulation of beta-glucosylceramidase activity" EXACT [] +synonym: "upregulation of ceramide glucosidase activity" EXACT [] +synonym: "upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity" EXACT [] +synonym: "upregulation of GlcCer-beta-glucosidase activity" EXACT [] +synonym: "upregulation of glucocerebrosidase activity" EXACT [] +synonym: "upregulation of glucosphingosine glucosylhydrolase activity" EXACT [] +synonym: "upregulation of glucosylceramidase activity" EXACT [] +synonym: "upregulation of glucosylcerebrosidase activity" EXACT [] +synonym: "upregulation of glucosylsphingosine beta-D-glucosidase activity" EXACT [] +synonym: "upregulation of glucosylsphingosine beta-glucosidase activity" EXACT [] +synonym: "upregulation of psychosine hydrolase activity" EXACT [] +is_a: GO:0051345 ! positive regulation of hydrolase activity +is_a: GO:1905123 ! regulation of glucosylceramidase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0004348 ! positively regulates glucosylceramidase activity +relationship: RO:0002213 GO:0004348 ! positively regulates glucosylceramidase activity + [Term] id: GO:1905153 name: regulation of membrane invagination @@ -25119,6 +32928,17 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0035051 ! positively regulates cardiocyte differentiation relationship: RO:0002213 GO:0035051 ! positively regulates cardiocyte differentiation +[Term] +id: GO:1905213 +name: negative regulation of mitotic chromosome condensation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation." [] +is_a: GO:0033048 ! negative regulation of mitotic sister chromatid segregation +is_a: GO:1902340 ! negative regulation of chromosome condensation +is_a: GO:1903379 ! regulation of mitotic chromosome condensation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0007076 ! negatively regulates mitotic chromosome condensation +relationship: RO:0002212 GO:0007076 ! negatively regulates mitotic chromosome condensation + [Term] id: GO:1905214 name: regulation of RNA binding @@ -25284,6 +33104,18 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0002009 ! positively regulates morphogenesis of an epithelium relationship: RO:0002213 GO:0002009 ! positively regulates morphogenesis of an epithelium +[Term] +id: GO:1905349 +name: ciliary transition zone assembly +def: "The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone." [] +synonym: "cilial transition zone assembly" EXACT [] +synonym: "cilial transition zone formation" EXACT [] +synonym: "ciliary transition zone formation" EXACT [] +synonym: "cilium transition zone assembly" EXACT [] +synonym: "cilium transition zone formation" EXACT [] +is_a: GO:0022607 ! cellular component assembly +relationship: BFO:0000050 GO:0060271 ! part of cilium assembly + [Term] id: GO:1905516 name: positive regulation of fertilization @@ -25389,6 +33221,40 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0042776 ! negatively regulates mitochondrial ATP synthesis coupled proton transport relationship: RO:0002212 GO:0042776 ! negatively regulates mitochondrial ATP synthesis coupled proton transport +[Term] +id: GO:1905821 +name: positive regulation of chromosome condensation +def: "Any process that activates or increases the frequency, rate or extent of chromosome condensation." [] +synonym: "activation of chromosome condensation" NARROW [] +synonym: "activation of eukaryotic chromosome condensation" NARROW [] +synonym: "activation of nuclear chromosome condensation" NARROW [] +synonym: "positive regulation of eukaryotic chromosome condensation" EXACT [] +synonym: "positive regulation of nuclear chromosome condensation" EXACT [] +synonym: "up regulation of chromosome condensation" EXACT [] +synonym: "up regulation of eukaryotic chromosome condensation" EXACT [] +synonym: "up regulation of nuclear chromosome condensation" EXACT [] +synonym: "up-regulation of chromosome condensation" EXACT [] +synonym: "up-regulation of eukaryotic chromosome condensation" EXACT [] +synonym: "up-regulation of nuclear chromosome condensation" EXACT [] +synonym: "upregulation of chromosome condensation" EXACT [] +synonym: "upregulation of eukaryotic chromosome condensation" EXACT [] +synonym: "upregulation of nuclear chromosome condensation" EXACT [] +is_a: GO:0060623 ! regulation of chromosome condensation +is_a: GO:2001252 ! positive regulation of chromosome organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0030261 ! positively regulates chromosome condensation +relationship: RO:0002213 GO:0030261 ! positively regulates chromosome condensation + +[Term] +id: GO:1905951 +name: mitochondrion DNA recombination +def: "Any DNA recombination that takes place in mitochondrion." [] +synonym: "DNA recombination in mitochondria" EXACT [] +is_a: GO:0006310 ! DNA recombination +is_a: GO:0032042 ! mitochondrial DNA metabolic process +intersection_of: GO:0006310 ! DNA recombination +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion + [Term] id: GO:1905952 name: regulation of lipid localization @@ -25446,6 +33312,12 @@ synonym: "redox complex" EXACT [] is_a: GO:0044464 ! cell part is_a: GO:1902494 ! catalytic complex +[Term] +id: GO:1990266 +name: neutrophil migration +def: "The movement of an neutrophil within or between different tissues and organs of the body." [] +is_a: GO:0097530 ! granulocyte migration + [Term] id: GO:1990542 name: mitochondrial transmembrane transport @@ -25478,6 +33350,17 @@ is_a: GO:0009987 ! cellular process is_a: GO:0098754 ! detoxification relationship: BFO:0000050 GO:0097237 ! part of cellular response to toxic substance +[Term] +id: GO:1990904 +name: ribonucleoprotein complex +def: "A macromolecular complex containing both protein and RNA molecules." [] +synonym: "intracellular ribonucleoprotein complex" RELATED [] +synonym: "protein-RNA complex" EXACT [] +synonym: "ribonucleoprotein complex" EXACT [] +synonym: "RNA-protein complex" EXACT [] +synonym: "RNP" EXACT [] +is_a: GO:0032991 ! protein-containing complex + [Term] id: GO:2000026 name: regulation of multicellular organismal development @@ -25499,6 +33382,16 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0009887 ! regulates animal organ morphogenesis relationship: RO:0002211 GO:0009887 ! regulates animal organ morphogenesis +[Term] +id: GO:2000035 +name: regulation of stem cell division +def: "Any process that modulates the frequency, rate or extent of stem cell division." [] +synonym: "regulation of stem cell renewal" EXACT [] +is_a: GO:0051302 ! regulation of cell division +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0017145 ! regulates stem cell division +relationship: RO:0002211 GO:0017145 ! regulates stem cell division + [Term] id: GO:2000064 name: regulation of cortisol biosynthetic process @@ -25983,6 +33876,47 @@ intersection_of: GO:0050789 ! regulation of biological process intersection_of: RO:0002211 GO:0100070 ! regulates regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter relationship: RO:0002211 GO:0100070 ! regulates regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter +[Term] +id: GO:2000725 +name: regulation of cardiac muscle cell differentiation +def: "Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation." [] +synonym: "regulation of cardiomyocyte differentiation" EXACT [] +synonym: "regulation of heart muscle cell differentiation" RELATED [] +is_a: GO:0051153 ! regulation of striated muscle cell differentiation +is_a: GO:0055024 ! regulation of cardiac muscle tissue development +is_a: GO:1905207 ! regulation of cardiocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0055007 ! regulates cardiac muscle cell differentiation +relationship: RO:0002211 GO:0055007 ! regulates cardiac muscle cell differentiation + +[Term] +id: GO:2000726 +name: negative regulation of cardiac muscle cell differentiation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation." [] +synonym: "negative regulation of cardiomyocyte differentiation" EXACT [] +synonym: "negative regulation of heart muscle cell differentiation" RELATED [] +is_a: GO:0051154 ! negative regulation of striated muscle cell differentiation +is_a: GO:0055026 ! negative regulation of cardiac muscle tissue development +is_a: GO:1905208 ! negative regulation of cardiocyte differentiation +is_a: GO:2000725 ! regulation of cardiac muscle cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0055007 ! negatively regulates cardiac muscle cell differentiation +relationship: RO:0002212 GO:0055007 ! negatively regulates cardiac muscle cell differentiation + +[Term] +id: GO:2000727 +name: positive regulation of cardiac muscle cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation." [] +synonym: "positive regulation of cardiomyocyte differentiation" EXACT [] +synonym: "positive regulation of heart muscle cell differentiation" RELATED [] +is_a: GO:0051155 ! positive regulation of striated muscle cell differentiation +is_a: GO:0055025 ! positive regulation of cardiac muscle tissue development +is_a: GO:1905209 ! positive regulation of cardiocyte differentiation +is_a: GO:2000725 ! regulation of cardiac muscle cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0055007 ! positively regulates cardiac muscle cell differentiation +relationship: RO:0002213 GO:0055007 ! positively regulates cardiac muscle cell differentiation + [Term] id: GO:2000736 name: regulation of stem cell differentiation @@ -26396,6 +34330,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006754 ! positively regulates ATP biosynthetic process relationship: RO:0002213 GO:0006754 ! positively regulates ATP biosynthetic process +[Term] +id: GO:2001198 +name: regulation of dendritic cell differentiation +def: "Any process that modulates the frequency, rate or extent of dendritic cell differentiation." [] +is_a: GO:1902105 ! regulation of leukocyte differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0097028 ! regulates dendritic cell differentiation +relationship: RO:0002211 GO:0097028 ! regulates dendritic cell differentiation + +[Term] +id: GO:2001199 +name: negative regulation of dendritic cell differentiation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation." [] +is_a: GO:1902106 ! negative regulation of leukocyte differentiation +is_a: GO:2001198 ! regulation of dendritic cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0097028 ! negatively regulates dendritic cell differentiation +relationship: RO:0002212 GO:0097028 ! negatively regulates dendritic cell differentiation + +[Term] +id: GO:2001200 +name: positive regulation of dendritic cell differentiation +def: "Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation." [] +is_a: GO:1902107 ! positive regulation of leukocyte differentiation +is_a: GO:2001198 ! regulation of dendritic cell differentiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0097028 ! positively regulates dendritic cell differentiation +relationship: RO:0002213 GO:0097028 ! positively regulates dendritic cell differentiation + [Term] id: GO:2001212 name: regulation of vasculogenesis @@ -26451,6 +34414,69 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0006821 ! negatively regulates chloride transport relationship: RO:0002212 GO:0006821 ! negatively regulates chloride transport +[Term] +id: GO:2001233 +name: regulation of apoptotic signaling pathway +def: "Any process that modulates the frequency, rate or extent of apoptotic signaling pathway." [] +synonym: "regulation of apoptotic signalling pathway" EXACT [] +is_a: GO:0009966 ! regulation of signal transduction +is_a: GO:0042981 ! regulation of apoptotic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0097190 ! regulates apoptotic signaling pathway +relationship: RO:0002211 GO:0097190 ! regulates apoptotic signaling pathway + +[Term] +id: GO:2001234 +name: negative regulation of apoptotic signaling pathway +def: "Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway." [] +synonym: "negative regulation of apoptotic signalling pathway" EXACT [] +is_a: GO:0009968 ! negative regulation of signal transduction +is_a: GO:0043066 ! negative regulation of apoptotic process +is_a: GO:2001233 ! regulation of apoptotic signaling pathway +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0097190 ! negatively regulates apoptotic signaling pathway +relationship: RO:0002212 GO:0097190 ! negatively regulates apoptotic signaling pathway + +[Term] +id: GO:2001235 +name: positive regulation of apoptotic signaling pathway +def: "Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway." [] +synonym: "positive regulation of apoptotic signalling pathway" EXACT [] +is_a: GO:0009967 ! positive regulation of signal transduction +is_a: GO:0043065 ! positive regulation of apoptotic process +is_a: GO:2001233 ! regulation of apoptotic signaling pathway +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0097190 ! positively regulates apoptotic signaling pathway +relationship: RO:0002213 GO:0097190 ! positively regulates apoptotic signaling pathway + +[Term] +id: GO:2001251 +name: negative regulation of chromosome organization +def: "Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization." [] +synonym: "negative regulation of chromosome organisation" EXACT [] +synonym: "negative regulation of chromosome organization and biogenesis" RELATED [] +synonym: "negative regulation of maintenance of genome integrity" RELATED [] +synonym: "negative regulation of nuclear genome maintenance" RELATED [] +is_a: GO:0010639 ! negative regulation of organelle organization +is_a: GO:0033044 ! regulation of chromosome organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0051276 ! negatively regulates chromosome organization +relationship: RO:0002212 GO:0051276 ! negatively regulates chromosome organization + +[Term] +id: GO:2001252 +name: positive regulation of chromosome organization +def: "Any process that activates or increases the frequency, rate or extent of chromosome organization." [] +synonym: "positive regulation of chromosome organisation" EXACT [] +synonym: "positive regulation of chromosome organization and biogenesis" RELATED [] +synonym: "positive regulation of maintenance of genome integrity" RELATED [] +synonym: "positive regulation of nuclear genome maintenance" RELATED [] +is_a: GO:0010638 ! positive regulation of organelle organization +is_a: GO:0033044 ! regulation of chromosome organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0051276 ! positively regulates chromosome organization +relationship: RO:0002213 GO:0051276 ! positively regulates chromosome organization + [Term] id: GO:2001257 name: regulation of cation channel activity diff --git a/src/ontology/imports/go_import.owl b/src/ontology/imports/go_import.owl index 6522810a0a..ff5a7a99e3 100644 --- a/src/ontology/imports/go_import.owl +++ b/src/ontology/imports/go_import.owl @@ -180,6 +180,33 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of DNA recombination, a DNA metabolic process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. + regulation of DNA recombination + + + + @@ -206,6 +233,36 @@ + + + + + + + + + + + + + + + + + + + + + + + The cell cycle process in which replicated homologous chromosomes are organized and then physically separated and apportioned to two sets during the mitotic cell cycle. Each replicated chromosome, composed of two sister chromatids, aligns at the cell equator, paired with its homologous partner. One homolog of each morphologic type goes into each of the resulting chromosome sets. + mitotic chromosome segregation + mitotic sister-chromatid adhesion release + mitotic sister chromatid segregation + + + + @@ -261,6 +318,20 @@ + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. + microtubule cytoskeleton organisation + microtubule dynamics + microtubule cytoskeleton organization and biogenesis + microtubule cytoskeleton organization + + + + @@ -360,6 +431,34 @@ + + + + + + + + + + + + + + + + + + + + + + Progression through the phases of the mitotic cell cycle, the most common eukaryotic cell cycle, which canonically comprises four successive phases called G1, S, G2, and M and includes replication of the genome and the subsequent segregation of chromosomes into daughter cells. In some variant cell cycles nuclear replication or nuclear division may not be followed by cell division, or G1 and G2 phases may be absent. + mitosis + mitotic cell cycle + + + + @@ -371,6 +470,28 @@ + + + + + + + + + + + + + + + + + A ribosome contained within a subcellular membrane-bounded organelle. + organellar ribosome + + + + @@ -442,6 +563,37 @@ + + + + + A dispersed and relatively uncompacted form of chromatin. + euchromatin + + + + + + + + + A compact and highly condensed form of chromatin. + heterochromatin + + + + + + + + + + The cell cycle process in which sister chromatids are organized and then physically separated and apportioned to two or more sets. + sister chromatid segregation + + + + @@ -616,6 +768,16 @@ + + + + + A process in which membrane potential cycles through a depolarizing spike, triggered in response to depolarization above some threshold, followed by repolarization. This cycle is driven by the flow of ions through various voltage gated channels with different thresholds and ion specificities. + action potential + + + + @@ -660,6 +822,34 @@ + + + + + A process that results in a parallel arrangement of microtubules. + microtubule bundling + microtubule bundle formation + + + + + + + + + + + + + + + The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. + osteoblast cell differentiation + osteoblast differentiation + + + + @@ -683,6 +873,27 @@ + + + + + + + + + + + + + + + The formation of the acrosome from the spermatid Golgi. + acrosome formation + acrosome assembly + + + + @@ -699,6 +910,16 @@ + + + + + The change in morphology and behavior of a dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. + myeloid dendritic cell activation + + + + @@ -1022,6 +1243,135 @@ + + + + + The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. + interferon production + interleukin production + cytokine production + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of production of a cytokine. + regulation of cytokine production + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the rate of production of a cytokine. + down regulation of cytokine production + down-regulation of cytokine production + downregulation of cytokine production + inhibition of cytokine production + negative regulation of cytokine production + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of production of a cytokine. + up regulation of cytokine production + up-regulation of cytokine production + upregulation of cytokine production + activation of cytokine production + stimulation of cytokine production + positive regulation of cytokine production + + + + + + + + + + The regulated release of serotonin by a cell. Serotonin (5-hydroxytryptamine, or 5-HT) is a monoamine synthesised in serotonergic neurons in the central nervous system, enterochromaffin cells in the gastrointestinal tract and some immune system cells. + 5-HT secretion + 5-hydroxytryptamine secretion + serotonin release + serotonin secretion + + + + + + + + + + The regulated release of histamine by a cell or tissue. It is formed by decarboxylation of histidine and it acts through receptors in smooth muscle and in secretory systems. + histamine secretion + + + + @@ -1222,6 +1572,131 @@ + + + + + Any process in an organism that results in the killing of its own cells or those of another organism, including in some cases the death of the other organism. Killing here refers to the induction of death in one cell by another cell, not cell-autonomous death due to internal or other environmental conditions. + necrosis + cell killing + + + + + + + + + The directed killing of a target cell by a leukocyte. + immune cell mediated cell death + immune cell mediated cell killing + immune cell mediated cytotoxicity + leucocyte mediated cytotoxicity + leukocyte mediated cytotoxicity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of leukocyte mediated cytotoxicity. + regulation of immune cell mediated cell death + regulation of immune cell mediated cell killing + regulation of immune cell mediated cytotoxicity + regulation of leucocyte mediated cytotoxicity + regulation of leukocyte mediated cytotoxicity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the rate of leukocyte mediated cytotoxicity. + down regulation of leukocyte mediated cytotoxicity + down-regulation of leukocyte mediated cytotoxicity + downregulation of leukocyte mediated cytotoxicity + negative regulation of immune cell mediated cytotoxicity + negative regulation of leucocyte mediated cytotoxicity + inhibition of leukocyte mediated cytotoxicity + negative regulation of leukocyte mediated cytotoxicity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of leukocyte mediated cytotoxicity. + positive regulation of immune cell mediated cytotoxicity + positive regulation of leucocyte mediated cytotoxicity + up regulation of leukocyte mediated cytotoxicity + up-regulation of leukocyte mediated cytotoxicity + upregulation of leukocyte mediated cytotoxicity + activation of leukocyte mediated cytotoxicity + stimulation of leukocyte mediated cytotoxicity + positive regulation of leukocyte mediated cytotoxicity + + + + @@ -1465,6 +1940,168 @@ + + + + + + + + + + + The somatic process allowing for the production of immune receptors whose specificity is not encoded in the germline genomic sequences. + somatic diversification of immune receptors + + + + + + + + + + The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, also known as immunoglobulin gene segments, within a single locus following the induction of and contributing to an immune response. + somatic recombination of antibody genes during immune response + somatic recombination of immunoglobulin genes during immune response + somatic recombination of immunoglobulin genes involved in immune response + + + + + + + + + + + + + + + The somatic process that results in the generation of sequence diversity of immunoglobulins after induction, and contributes to an immune response. + somatic diversification of antibodies during immune response + somatic diversification of immunoglobulins during immune response + somatic diversification of immunoglobulins involved in immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide production. + antimicrobial peptide induction + up regulation of antimicrobial peptide production + up-regulation of antimicrobial peptide production + upregulation of antimicrobial peptide production + activation of antimicrobial peptide production + stimulation of antimicrobial peptide production + positive regulation of antimicrobial peptide production + + + + + + + + + + The promotion of an immune response by natural killer cells through direct recognition of target cells or through the release of cytokines. + NK cell mediated immunity + natural killer cell mediated immunity + + + + + + + + + + + + + + + + + + + + + The movement of an immune cell in response to an external stimulus contributing to an inflammatory response. + immune cell chemotaxis during inflammatory response + leucocyte chemotaxis during inflammatory response + leukocyte chemotaxis during inflammatory response + leukocyte chemotaxis involved in inflammatory response + + + + + + + + + + + + + + + + + + + + + The movement of an immune cell in response to an external stimulus a part of an immune response. + immune cell chemotaxis during immune response + leucocyte chemotaxis during immune response + leukocyte chemotaxis involved in immune response + + + + + + + + + + + + + + + The process in which precursor cell type acquires the specialized features of a hematopoietic progenitor cell, a class of cell types including myeloid progenitor cells and lymphoid progenitor cells. + haematopoietic progenitor cell differentiation + haemopoietic progenitor cell differentiation + hemopoietic progenitor cell differentiation + hematopoietic progenitor cell differentiation + + + + @@ -1619,6 +2256,29 @@ + + + + + + + + + + + + + + + + + The change in morphology and behavior of a myeloid dendritic cell resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response. + myeloid dendritic cell activation during immune response + myeloid dendritic cell activation involved in immune response + + + + @@ -1665,6 +2325,29 @@ + + + + + + + + + + + + + + + + + The process in which an immature myeloid dendritic cell acquires the specialized features of a mature myeloid dendritic cell as part of an immune response. + myeloid dendritic cell differentiation during immune response + myeloid dendritic cell differentiation involved in immune response + + + + @@ -1741,6 +2424,146 @@ + + + + + + + + + + + + + + + + + The change in morphology and behavior of a mature or immature B cell during an immune response, resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. + B cell activation during immune response + B lymphocyte activation during immune response + B-cell activation during immune response + B-lymphocyte activation during immune response + B cell activation involved in immune response + + + + + + + + + + + + + + + + + + + + + The process in which a naive B cell acquires the specialized features of a mature or memory B cell during an immune response. + mature B cell development involved in immune response + mature B cell differentiation during immune response + mature B lymphocyte differentiation during immune response + mature B-cell differentiation during immune response + mature B-lymphocyte differentiation during immune response + mature B cell differentiation involved in immune response + + + + + + + + + The process in which transitional stage B cells acquire the specialized features of mature B cells in the spleen. + mature B lymphocyte differentiation + mature B-cell differentiation + mature B-lymphocyte differentiation + mature cell development + mature B cell differentiation + + + + + + + + + + + + + + + The process dependent upon B cell antigen receptor signaling in response to self or foreign antigen through which B cells are selected for survival. + B lymphocyte selection + B-cell selection + B-lymphocyte selection + B cell selection + + + + + + + + + Any B cell selection process that occurs in the periphery. + peripheral B lymphocyte selection + peripheral B-cell selection + peripheral B-lymphocyte selection + peripheral B cell selection + + + + + + + + + + + + + + + The process in which B cells produce antibodies with increased antigen affinity. This is accomplished by somatic hypermutation and selection for B cells which produce higher affinity antibodies to antigen. + B lymphocyte affinity maturation + B-cell affinity maturation + B-lymphocyte affinity maturation + B cell affinity maturation + + + + + + + + + The synthesis or release of histamine following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. + histamine production involved in acute inflammatory response + histamine production involved in inflammatory response + + + + + + + + + The synthesis or release of serotonin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. + serotonin production involved in acute inflammatory response + serotonin production involved in inflammatory response + + + + @@ -1766,6 +2589,35 @@ + + + + + + + + + + + + + + + + + + + + + + + The appearance of a cytokine due to biosynthesis or secretion following a cellular stimulus contributing to an immune response, resulting in an increase in its intracellular or extracellular levels. + cytokine production during immune response + cytokine production involved in immune response + + + + @@ -1776,6 +2628,47 @@ + + + + + The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. + antibody production + immunoglobulin production + + + + + + + + + + + + + + + + + + + + + + + + + + The appearance of immunoglobulin due to biosynthesis or secretion following a cellular stimulus during an immune response, resulting in an increase in its intracellular or extracellular levels. + antibody production during immune response + immunoglobulin production during immune response + immunoglobulin production involved in immune response + immunoglobulin production involved in immunoglobulin mediated immune response + + + + @@ -1853,6 +2746,75 @@ + + + + + The synthesis or release of any molecular mediator of the immune response, resulting in an increase in its intracellular or extracellular levels. + production of cellular mediator of immune response + production of molecular mediator of immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + The regulated release of histamine by a cell as part of an inflammatory response. + histamine secretion involved in acute inflammatory response + histamine secretion involved in inflammatory response + + + + + + + + + + + + + + + + + + + + + + + + + + The regulated release of serotonin by a cell as part of an inflammatory response. + serotonin secretion involved in acute inflammatory response + serotonin release involved in inflammatory response + serotonin secretion involved in inflammatory response + + + + @@ -1933,6 +2895,55 @@ + + + + + + Tolerance induction dependent upon an immune response, typically a response by a mature T or B cell in the periphery resulting tolerance towards an antigen via induction of anergy, cellular deletion, or regulatory T cell activation. + immune response-dependent tolerance induction + tolerance induction dependent upon immune response + + + + + + + + + Tolerance induction in the peripheral lymphoid tissues: blood, lymph nodes, spleen, and mucosal-associated lymphoid tissues. + peripheral tolerance induction + + + + + + + + + The process in which an antigen-presenting cell expresses antigen (peptide or polysaccharide) on its cell surface in association with an MHC class II protein complex. + peptide or polysaccharide antigen processing and presentation of via MHC class II + antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + + + + + + + + + + + + + + + A process that directly activates any of the steps required for tolerance, a physiologic state in which the immune system does not react destructively against the components of an organism that harbors it or against antigens that are introduced to it. + tolerance induction + + + + @@ -1962,6 +2973,72 @@ + + + + + + + + + + + + + + + + + + + + + + + The movement of a leukocyte within or between different tissues and organs of the body as part of an immune response. + immune cell migration during immune response + immune cell trafficking during immune response + leucocyte migration during immune response + leucocyte trafficking during immune response + leukocyte trafficking during immune response + leukocyte migration involved in immune response + + + + + + + + + + + + + + + + + + + + + + + + + + The movement of a leukocyte within or between different tissues and organs of the body contributing to an inflammatory response. + immune cell migration during inflammatory response + immune cell trafficking during inflammatory response + leucocyte migration during inflammatory response + leucocyte trafficking during inflammatory response + leukocyte migration during inflammatory response + leukocyte trafficking during inflammatory response + leukocyte migration involved in inflammatory response + + + + @@ -1983,2312 +3060,4027 @@ - + - + + + + + + + + + The synthesis or release of any molecular mediator of the inflammatory response following an inflammatory stimulus, resulting in an increase in its intracellular or extracellular levels. + production of molecular mediator involved in acute inflammatory response + production of cellular mediator of acute inflammation + production of molecular mediator involved in inflammatory response + + + + + + + + + + + + + + + + + + + + + The synthesis or release of a cytokine following a inflammatory stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. + cytokine production involved in acute inflammatory response + cytokine production involved in inflammatory response + + + + + + + + + The synthesis or release of products of arachidonic acid metabolism following a stimulus as part of an inflammatory response, resulting in an increase in their intracellular or extracellular levels. + arachidonic acid metabolite production involved in acute inflammatory response + production of arachidonic acid metabolites involved in acute inflammatory response + production of arachidonic acid metabolites involved in inflammatory response + arachidonic acid metabolite production involved in inflammatory response + + + + + + + + + The synthesis or release of any prostaglandin following a stimulus as part of an inflammatory response, resulting in an increase in its intracellular or extracellular levels. + prostaglandin production involved in acute inflammatory response + prostaglandin production involved in inflammatory response + + + + + + + + + + The process in which immune receptor genes are diversified through recombination of the germline genetic elements within a single genetic locus. + somatic diversification of immune receptors via germline recombination within a single locus + + + + + + + + + + The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte lineage. + myeloid leucocyte differentiation + myeloid leukocyte differentiation + + + + + + + + + The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a thrombocyte, a nucleated cell found in all vertebrates but mammals involved in hemostasis. + thrombocyte differentiation + + + + + + + - + - + - + - Any process that modulates the frequency, rate, or extent of an acute inflammatory response. - regulation of acute inflammatory response + Any process that modulates the frequency, rate, or extent of antigen processing and presentation. + regulation of antigen processing and presentation - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. - down regulation of acute inflammatory response - down-regulation of acute inflammatory response - downregulation of acute inflammatory response - inhibition of acute inflammatory response - negative regulation of acute inflammatory response + Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation. + down regulation of antigen processing and presentation + down-regulation of antigen processing and presentation + downregulation of antigen processing and presentation + inhibition of antigen processing and presentation + negative regulation of antigen processing and presentation - + - + - + - - + + - + - Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. - up regulation of acute inflammatory response - up-regulation of acute inflammatory response - upregulation of acute inflammatory response - activation of acute inflammatory response - stimulation of acute inflammatory response - positive regulation of acute inflammatory response + Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation. + up regulation of antigen processing and presentation + up-regulation of antigen processing and presentation + upregulation of antigen processing and presentation + activation of antigen processing and presentation + stimulation of antigen processing and presentation + positive regulation of antigen processing and presentation - + - + - + - + - + - Any process that modulates the frequency, rate, or extent of an immune system process. - regulation of immune system process + Any process that modulates the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. + regulation of peptide or polysaccharide antigen processing and presentation via MHC class II + regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. - down regulation of immune system process - down-regulation of immune system process - downregulation of immune system process - inhibition of immune system process - negative regulation of immune system process + Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. + down regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + down-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + downregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + negative regulation of peptide or polysaccharide antigen processing and presentation via MHC class II + inhibition of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II - + - + - + - - + + - + - Any process that activates or increases the frequency, rate, or extent of an immune system process. - up regulation of immune system process - up-regulation of immune system process - upregulation of immune system process - activation of immune system process - stimulation of immune system process - positive regulation of immune system process + Any process that activates or increases the frequency, rate, or extent of antigen processing and presentation of antigen (peptide or polysaccharide) via MHC class II. + positive regulation of peptide or polysaccharide antigen processing and presentation via MHC class II + up regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + up-regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + upregulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + activation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + stimulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II + positive regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II - + - + - + - - + - + - Any process that modulates the frequency, rate, or extent of leukocyte activation. - regulation of immune cell activation - regulation of leucocyte activation - regulation of leukocyte activation + Any process that modulates the frequency, rate, or extent of immunoglobulin production. + regulation of immunoglobulin production - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. - down regulation of leukocyte activation - down-regulation of leukocyte activation - downregulation of leukocyte activation - negative regulation of immune cell activation - negative regulation of leucocyte activation - inhibition of leukocyte activation - negative regulation of leukocyte activation + Any process that stops, prevents, or reduces the frequency, rate, or extent of immunoglobulin production. + down regulation of immunoglobulin production + down-regulation of immunoglobulin production + downregulation of immunoglobulin production + inhibition of immunoglobulin production + negative regulation of immunoglobulin production - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate, or extent of leukocyte activation. - positive regulation of immune cell activation - positive regulation of leucocyte activation - up regulation of leukocyte activation - up-regulation of leukocyte activation - upregulation of leukocyte activation - activation of leukocyte activation - stimulation of leukocyte activation - positive regulation of leukocyte activation + Any process that activates or increases the frequency, rate, or extent of immunoglobulin production. + up regulation of immunoglobulin production + up-regulation of immunoglobulin production + upregulation of immunoglobulin production + activation of immunoglobulin production + stimulation of immunoglobulin production + positive regulation of immunoglobulin production - + - + - + + - + - Any process that modulates the frequency, rate, or extent of an immune effector process. - regulation of immune effector process + Any process that modulates the frequency, rate, or extent of tolerance induction. + regulation of tolerance induction - + - + - + + - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. - down regulation of immune effector process - down-regulation of immune effector process - downregulation of immune effector process - inhibition of immune effector process - negative regulation of immune effector process + Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction. + down regulation of tolerance induction + down-regulation of tolerance induction + downregulation of tolerance induction + inhibition of tolerance induction + negative regulation of tolerance induction - + - + - + + - + + - + - Any process that activates or increases the frequency, rate, or extent of an immune effector process. - up regulation of immune effector process - up-regulation of immune effector process - upregulation of immune effector process - activation of immune effector process - stimulation of immune effector process - positive regulation of immune effector process + Any process that activates or increases the frequency, rate, or extent of tolerance induction. + up regulation of tolerance induction + up-regulation of tolerance induction + upregulation of tolerance induction + activation of tolerance induction + stimulation of tolerance induction + positive regulation of tolerance induction - + - + - + - + + - + - Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. - regulation of immune cell mediated immunity - regulation of leucocyte mediated immunity - regulation of leukocyte mediated immunity + Any process that modulates the frequency, rate, or extent of tolerance induction dependent upon immune response. + regulation of immune response-dependent tolerance induction + regulation of tolerance induction dependent upon immune response - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. - down regulation of leukocyte mediated immunity - down-regulation of leukocyte mediated immunity - downregulation of leukocyte mediated immunity - negative regulation of immune cell mediated immunity - negative regulation of leucocyte mediated immunity - inhibition of leukocyte mediated immunity - negative regulation of leukocyte mediated immunity + Any process that stops, prevents, or reduces the frequency, rate, or extent of tolerance induction dependent upon immune response. + down regulation of tolerance induction dependent upon immune response + down-regulation of tolerance induction dependent upon immune response + downregulation of tolerance induction dependent upon immune response + negative regulation of immune response-dependent tolerance induction + inhibition of tolerance induction dependent upon immune response + negative regulation of tolerance induction dependent upon immune response - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. - positive regulation of immune cell mediated immunity - positive regulation of leucocyte mediated immunity - up regulation of leukocyte mediated immunity - up-regulation of leukocyte mediated immunity - upregulation of leukocyte mediated immunity - activation of leukocyte mediated immunity - stimulation of leukocyte mediated immunity - positive regulation of leukocyte mediated immunity + Any process that activates or increases the frequency, rate, or extent of tolerance induction dependent upon immune response. + positive regulation of immune response-dependent tolerance induction + up regulation of tolerance induction dependent upon immune response + up-regulation of tolerance induction dependent upon immune response + upregulation of tolerance induction dependent upon immune response + activation of tolerance induction dependent upon immune response + stimulation of tolerance induction dependent upon immune response + positive regulation of tolerance induction dependent upon immune response - + - + - + - + - + - Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. - regulation of lymphocyte mediated immunity + Any process that modulates the frequency, rate, or extent of peripheral tolerance induction. + regulation of peripheral tolerance induction - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. - down regulation of lymphocyte mediated immunity - down-regulation of lymphocyte mediated immunity - downregulation of lymphocyte mediated immunity - inhibition of lymphocyte mediated immunity - negative regulation of lymphocyte mediated immunity + Any process that stops, prevents, or reduces the frequency, rate, or extent of peripheral tolerance induction. + down regulation of peripheral tolerance induction + down-regulation of peripheral tolerance induction + downregulation of peripheral tolerance induction + inhibition of peripheral tolerance induction + negative regulation of peripheral tolerance induction - + - + - + - - + + - + - Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. - up regulation of lymphocyte mediated immunity - up-regulation of lymphocyte mediated immunity - upregulation of lymphocyte mediated immunity - activation of lymphocyte mediated immunity - stimulation of lymphocyte mediated immunity - positive regulation of lymphocyte mediated immunity + Any process that activates or increases the frequency, rate, or extent of peripheral tolerance induction. + up regulation of peripheral tolerance induction + up-regulation of peripheral tolerance induction + upregulation of peripheral tolerance induction + activation of peripheral tolerance induction + stimulation of peripheral tolerance induction + positive regulation of peripheral tolerance induction - + - + - + - - + - + - Any process that modulates the frequency, rate, or extent of T cell mediated immunity. - regulation of T lymphocyte mediated immunity - regulation of T-cell mediated immunity - regulation of T-lymphocyte mediated immunity - regulation of T cell mediated immunity + Any process that modulates the frequency, rate, or extent of an acute inflammatory response. + regulation of acute inflammatory response - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. - down regulation of T cell mediated immunity - down-regulation of T cell mediated immunity - downregulation of T cell mediated immunity - negative regulation of T lymphocyte mediated immunity - negative regulation of T-cell mediated immunity - negative regulation of T-lymphocyte mediated immunity - inhibition of T cell mediated immunity - negative regulation of T cell mediated immunity + Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response. + down regulation of acute inflammatory response + down-regulation of acute inflammatory response + downregulation of acute inflammatory response + inhibition of acute inflammatory response + negative regulation of acute inflammatory response - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. - positive regulation of T lymphocyte mediated immunity - positive regulation of T-cell mediated immunity - positive regulation of T-lymphocyte mediated immunity - up regulation of T cell mediated immunity - up-regulation of T cell mediated immunity - upregulation of T cell mediated immunity - activation of T cell mediated immunity - stimulation of T cell mediated immunity - positive regulation of T cell mediated immunity + Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response. + up regulation of acute inflammatory response + up-regulation of acute inflammatory response + upregulation of acute inflammatory response + activation of acute inflammatory response + stimulation of acute inflammatory response + positive regulation of acute inflammatory response - + - + - + - - + - + - Any process that modulates the frequency, rate, or extent of B cell mediated immunity. - regulation of B lymphocyte mediated immunity - regulation of B-cell mediated immunity - regulation of B-lymphocyte mediated immunity - regulation of B cell mediated immunity + Any process that modulates the frequency, rate, or extent of an immune system process. + regulation of immune system process - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity. - down regulation of B cell mediated immunity - down-regulation of B cell mediated immunity - downregulation of B cell mediated immunity - negative regulation of B lymphocyte mediated immunity - negative regulation of B-cell mediated immunity - negative regulation of B-lymphocyte mediated immunity - inhibition of B cell mediated immunity - negative regulation of B cell mediated immunity + Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune system process. + down regulation of immune system process + down-regulation of immune system process + downregulation of immune system process + inhibition of immune system process + negative regulation of immune system process - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity. - positive regulation of B lymphocyte mediated immunity - positive regulation of B-cell mediated immunity - positive regulation of B-lymphocyte mediated immunity - up regulation of B cell mediated immunity - up-regulation of B cell mediated immunity - upregulation of B cell mediated immunity - activation of B cell mediated immunity - stimulation of B cell mediated immunity - positive regulation of B cell mediated immunity - - - - - - - - - - The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response. - immune response-activating signal transduction - - - - - - - - - - The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response. - immune response-regulating signalling pathway - immune response-regulating signaling pathway - - - - - - - - - - A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response. - immune response-regulating cell surface receptor signalling pathway - immune response-regulating cell surface receptor signaling pathway - - - - - - - - - - The controlled release of a peptide from a cell or a tissue. - peptide secretion + Any process that activates or increases the frequency, rate, or extent of an immune system process. + up regulation of immune system process + up-regulation of immune system process + upregulation of immune system process + activation of immune system process + stimulation of immune system process + positive regulation of immune system process - + - + - + - - + + - + - Any process that modulates the frequency, rate, or extent of peptide secretion. - regulation of peptide secretion + Any process that modulates the frequency, rate, or extent of leukocyte migration. + regulation of immune cell migration + regulation of leucocyte migration + regulation of leukocyte migration - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. - down regulation of peptide secretion - down-regulation of peptide secretion - downregulation of peptide secretion - inhibition of peptide secretion - negative regulation of peptide secretion + Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte migration. + down regulation of leukocyte migration + down-regulation of leukocyte migration + downregulation of leukocyte migration + negative regulation of immune cell migration + negative regulation of leucocyte migration + inhibition of leukocyte migration + negative regulation of leukocyte migration - + - + - + - - + + + - - - - Any process that activates or increases the frequency, rate, or extent of peptide secretion. - up regulation of peptide secretion - up-regulation of peptide secretion - upregulation of peptide secretion - activation of peptide secretion - stimulation of peptide secretion - positive regulation of peptide secretion - - - - - - - - - - - - - - - - - - - - - - - - + - A physiological defense response which occurs intracellularly. - intracellular defence response - intracellular defense response + Any process that activates or increases the frequency, rate, or extent of leukocyte migration. + positive regulation of immune cell migration + positive regulation of leucocyte migration + up regulation of leukocyte migration + up-regulation of leukocyte migration + upregulation of leukocyte migration + activation of leukocyte migration + stimulation of leukocyte migration + positive regulation of leukocyte migration - + - + - + - + + - + - Any process that modulates the frequency, rate, or extent of an adaptive immune response. - regulation of adaptive immune response + Any process that modulates the frequency, rate, or extent of leukocyte chemotaxis. + regulation of immune cell chemotaxis + regulation of leucocyte chemotaxis + regulation of leukocyte chemotaxis - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. - down regulation of adaptive immune response - down-regulation of adaptive immune response - downregulation of adaptive immune response - inhibition of adaptive immune response - negative regulation of adaptive immune response + Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte chemotaxis. + down regulation of leukocyte chemotaxis + down-regulation of leukocyte chemotaxis + downregulation of leukocyte chemotaxis + negative regulation of immune cell chemotaxis + negative regulation of leucocyte chemotaxis + inhibition of leukocyte chemotaxis + negative regulation of leukocyte chemotaxis - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. - up regulation of adaptive immune response - up-regulation of adaptive immune response - upregulation of adaptive immune response - activation of adaptive immune response - stimulation of adaptive immune response - positive regulation of adaptive immune response + Any process that activates or increases the frequency, rate, or extent of leukocyte chemotaxis. + positive regulation of immune cell chemotaxis + positive regulation of leucocyte chemotaxis + up regulation of leukocyte chemotaxis + up-regulation of leukocyte chemotaxis + upregulation of leukocyte chemotaxis + activation of leukocyte chemotaxis + stimulation of leukocyte chemotaxis + positive regulation of leukocyte chemotaxis - + - + - + - + + - + - Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. - regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains + Any process that modulates the frequency, rate, or extent of leukocyte activation. + regulation of immune cell activation + regulation of leucocyte activation + regulation of leukocyte activation - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. - negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains + Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte activation. + down regulation of leukocyte activation + down-regulation of leukocyte activation + downregulation of leukocyte activation + negative regulation of immune cell activation + negative regulation of leucocyte activation + inhibition of leukocyte activation + negative regulation of leukocyte activation - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. - positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains + Any process that activates or increases the frequency, rate, or extent of leukocyte activation. + positive regulation of immune cell activation + positive regulation of leucocyte activation + up regulation of leukocyte activation + up-regulation of leukocyte activation + upregulation of leukocyte activation + activation of leukocyte activation + stimulation of leukocyte activation + positive regulation of leukocyte activation - + - + - + - + - + - Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response. - regulation of T-helper 1 type immune response + Any process that modulates the frequency, rate, or extent of an immune effector process. + regulation of immune effector process - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response. - down regulation of T-helper 1 type immune response - down-regulation of T-helper 1 type immune response - downregulation of T-helper 1 type immune response - inhibition of T-helper 1 type immune response - negative regulation of T-helper 1 type immune response + Any process that stops, prevents, or reduces the frequency, rate, or extent of an immune effector process. + down regulation of immune effector process + down-regulation of immune effector process + downregulation of immune effector process + inhibition of immune effector process + negative regulation of immune effector process - + - + - + - - + + - + - Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. - up regulation of T-helper 1 type immune response - up-regulation of T-helper 1 type immune response - upregulation of T-helper 1 type immune response - activation of T-helper 1 type immune response - stimulation of T-helper 1 type immune response - positive regulation of T-helper 1 type immune response + Any process that activates or increases the frequency, rate, or extent of an immune effector process. + up regulation of immune effector process + up-regulation of immune effector process + upregulation of immune effector process + activation of immune effector process + stimulation of immune effector process + positive regulation of immune effector process - + - + - + - + - + - Any process that modulates the frequency, rate, or extent of a type 2 immune response. - regulation of T-helper 2 type immune response - regulation of Th2 immune response - regulation of type 2 immune response + Any process that modulates the frequency, rate, or extent of the production of molecular mediator of immune response. + regulation of production of molecular mediator of immune response - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response. - down regulation of type 2 immune response - down-regulation of type 2 immune response - downregulation of type 2 immune response - inhibition of type 2 immune response - negative regulation of T-helper 2 type immune response - negative regulation of Th2 immune response - negative regulation of type 2 immune response + Any process that stops, prevents, or reduces the frequency, rate, or extent of the production of molecular mediator of immune response. + down regulation of production of molecular mediator of immune response + down-regulation of production of molecular mediator of immune response + downregulation of production of molecular mediator of immune response + inhibition of production of molecular mediator of immune response + negative regulation of production of molecular mediator of immune response - + - + - + - - + + - + - Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. - up regulation of type 2 immune response - up-regulation of type 2 immune response - upregulation of type 2 immune response - activation of type 2 immune response - positive regulation of T-helper 2 type immune response - positive regulation of Th2 immune response - stimulation of type 2 immune response - positive regulation of type 2 immune response + Any process that activates or increases the frequency, rate, or extent of the production of molecular mediator of immune response. + up regulation of production of molecular mediator of immune response + up-regulation of production of molecular mediator of immune response + upregulation of production of molecular mediator of immune response + activation of production of molecular mediator of immune response + stimulation of production of molecular mediator of immune response + positive regulation of production of molecular mediator of immune response - + - + - + - - + - + - Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. - regulation of inflammatory response to antigenic stimulus + Any process that modulates the frequency, rate, or extent of leukocyte mediated immunity. + regulation of immune cell mediated immunity + regulation of leucocyte mediated immunity + regulation of leukocyte mediated immunity - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. - down regulation of inflammatory response to antigenic stimulus - down-regulation of inflammatory response to antigenic stimulus - downregulation of inflammatory response to antigenic stimulus - inhibition of inflammatory response to antigenic stimulus - negative regulation of inflammatory response to antigenic stimulus + Any process that stops, prevents, or reduces the frequency, rate, or extent of leukocyte mediated immunity. + down regulation of leukocyte mediated immunity + down-regulation of leukocyte mediated immunity + downregulation of leukocyte mediated immunity + negative regulation of immune cell mediated immunity + negative regulation of leucocyte mediated immunity + inhibition of leukocyte mediated immunity + negative regulation of leukocyte mediated immunity - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. - up regulation of inflammatory response to antigenic stimulus - up-regulation of inflammatory response to antigenic stimulus - upregulation of inflammatory response to antigenic stimulus - activation of inflammatory response to antigenic stimulus - stimulation of inflammatory response to antigenic stimulus - positive regulation of inflammatory response to antigenic stimulus + Any process that activates or increases the frequency, rate, or extent of leukocyte mediated immunity. + positive regulation of immune cell mediated immunity + positive regulation of leucocyte mediated immunity + up regulation of leukocyte mediated immunity + up-regulation of leukocyte mediated immunity + upregulation of leukocyte mediated immunity + activation of leukocyte mediated immunity + stimulation of leukocyte mediated immunity + positive regulation of leukocyte mediated immunity - + - + - + - - + - + - Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. - regulation of acute inflammatory response to antigenic stimulus + Any process that modulates the frequency, rate, or extent of lymphocyte mediated immunity. + regulation of lymphocyte mediated immunity - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. - down regulation of acute inflammatory response to antigenic stimulus - down-regulation of acute inflammatory response to antigenic stimulus - downregulation of acute inflammatory response to antigenic stimulus - inhibition of acute inflammatory response to antigenic stimulus - negative regulation of acute inflammatory response to antigenic stimulus + Any process that stops, prevents, or reduces the frequency, rate, or extent of lymphocyte mediated immunity. + down regulation of lymphocyte mediated immunity + down-regulation of lymphocyte mediated immunity + downregulation of lymphocyte mediated immunity + inhibition of lymphocyte mediated immunity + negative regulation of lymphocyte mediated immunity - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. - up regulation of acute inflammatory response to antigenic stimulus - up-regulation of acute inflammatory response to antigenic stimulus - upregulation of acute inflammatory response to antigenic stimulus - activation of acute inflammatory response to antigenic stimulus - stimulation of acute inflammatory response to antigenic stimulus - positive regulation of acute inflammatory response to antigenic stimulus + Any process that activates or increases the frequency, rate, or extent of lymphocyte mediated immunity. + up regulation of lymphocyte mediated immunity + up-regulation of lymphocyte mediated immunity + upregulation of lymphocyte mediated immunity + activation of lymphocyte mediated immunity + stimulation of lymphocyte mediated immunity + positive regulation of lymphocyte mediated immunity - + - + - + - + + - + - Any process that modulates the frequency, rate, or extent of hypersensitivity. - regulation of hypersensitivity + Any process that modulates the frequency, rate, or extent of T cell mediated immunity. + regulation of T lymphocyte mediated immunity + regulation of T-cell mediated immunity + regulation of T-lymphocyte mediated immunity + regulation of T cell mediated immunity - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of hypersensitivity. - down regulation of hypersensitivity - down-regulation of hypersensitivity - downregulation of hypersensitivity - inhibition of hypersensitivity - negative regulation of hypersensitivity + Any process that stops, prevents, or reduces the frequency, rate, or extent of T cell mediated immunity. + down regulation of T cell mediated immunity + down-regulation of T cell mediated immunity + downregulation of T cell mediated immunity + negative regulation of T lymphocyte mediated immunity + negative regulation of T-cell mediated immunity + negative regulation of T-lymphocyte mediated immunity + inhibition of T cell mediated immunity + negative regulation of T cell mediated immunity - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate, or extent of hypersensitivity. - up regulation of hypersensitivity - up-regulation of hypersensitivity - upregulation of hypersensitivity - activation of hypersensitivity - stimulation of hypersensitivity - positive regulation of hypersensitivity + Any process that activates or increases the frequency, rate, or extent of T cell mediated immunity. + positive regulation of T lymphocyte mediated immunity + positive regulation of T-cell mediated immunity + positive regulation of T-lymphocyte mediated immunity + up regulation of T cell mediated immunity + up-regulation of T cell mediated immunity + upregulation of T cell mediated immunity + activation of T cell mediated immunity + stimulation of T cell mediated immunity + positive regulation of T cell mediated immunity - + - + - + - + + - + - Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. - regulation of myeloid leukocyte mediated immunity + Any process that modulates the frequency, rate, or extent of B cell mediated immunity. + regulation of B lymphocyte mediated immunity + regulation of B-cell mediated immunity + regulation of B-lymphocyte mediated immunity + regulation of B cell mediated immunity - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity. - down regulation of myeloid leukocyte mediated immunity - down-regulation of myeloid leukocyte mediated immunity - downregulation of myeloid leukocyte mediated immunity - inhibition of myeloid leukocyte mediated immunity - negative regulation of myeloid leukocyte mediated immunity + Any process that stops, prevents, or reduces the frequency, rate, or extent of B cell mediated immunity. + down regulation of B cell mediated immunity + down-regulation of B cell mediated immunity + downregulation of B cell mediated immunity + negative regulation of B lymphocyte mediated immunity + negative regulation of B-cell mediated immunity + negative regulation of B-lymphocyte mediated immunity + inhibition of B cell mediated immunity + negative regulation of B cell mediated immunity - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. - up regulation of myeloid leukocyte mediated immunity - up-regulation of myeloid leukocyte mediated immunity - upregulation of myeloid leukocyte mediated immunity - activation of myeloid leukocyte mediated immunity - stimulation of myeloid leukocyte mediated immunity - positive regulation of myeloid leukocyte mediated immunity + Any process that activates or increases the frequency, rate, or extent of B cell mediated immunity. + positive regulation of B lymphocyte mediated immunity + positive regulation of B-cell mediated immunity + positive regulation of B-lymphocyte mediated immunity + up regulation of B cell mediated immunity + up-regulation of B cell mediated immunity + upregulation of B cell mediated immunity + activation of B cell mediated immunity + stimulation of B cell mediated immunity + positive regulation of B cell mediated immunity - + - + - + - + + - + - Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response. - regulation of immunoglobulin mediated immune response + Any process that modulates the frequency, rate, or extent of natural killer cell mediated immunity. + regulation of NK cell mediated immunity + regulation of natural killer cell activity + regulation of natural killer cell mediated immunity - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response. - down regulation of immunoglobulin mediated immune response - down-regulation of immunoglobulin mediated immune response - downregulation of immunoglobulin mediated immune response - inhibition of immunoglobulin mediated immune response - negative regulation of immunoglobulin mediated immune response + Any process that stops, prevents, or reduces the frequency, rate, or extent of natural killer cell mediated immunity. + down regulation of natural killer cell mediated immunity + down-regulation of natural killer cell mediated immunity + downregulation of natural killer cell mediated immunity + negative regulation of NK cell mediated immunity + inhibition of natural killer cell mediated immunity + negative regulation of NK cell activity + negative regulation of natural killer cell activity + negative regulation of natural killer cell mediated immunity - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response. - up regulation of immunoglobulin mediated immune response - up-regulation of immunoglobulin mediated immune response - upregulation of immunoglobulin mediated immune response - activation of immunoglobulin mediated immune response - stimulation of immunoglobulin mediated immune response - positive regulation of immunoglobulin mediated immune response + Any process that activates or increases the frequency, rate, or extent of natural killer cell mediated immunity. + positive regulation of NK cell mediated immunity + up regulation of natural killer cell mediated immunity + up-regulation of natural killer cell mediated immunity + upregulation of natural killer cell mediated immunity + activation of natural killer cell mediated immunity + stimulation of natural killer cell mediated immunity + positive regulation of NK cell activity + positive regulation of natural killer cell activity + positive regulation of natural killer cell mediated immunity - + - + - + - - - + + + - + - Any process that modulates the frequency, rate, or extent of type II hypersensitivity. - regulation of type II hypersensitivity + Any process that modulates the frequency, rate, or extent of cytokine production that contributes to an immune response. + regulation of cytokine production during immune response + regulation of cytokine production involved in immune response - + - + - + - - - - + + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity. - down regulation of type II hypersensitivity - down-regulation of type II hypersensitivity - downregulation of type II hypersensitivity - inhibition of type II hypersensitivity - negative regulation of type II hypersensitivity + Any process that stops, prevents, or reduces the frequency, rate, or extent of cytokine production contributing to an immune response. + down-regulation of cytokine production during immune response + down regulation of cytokine production during immune response + downregulation of cytokine production during immune response + inhibition of cytokine production during immune response + negative regulation of cytokine production during immune response + negative regulation of cytokine production involved in immune response - + - + - + - - - - + + + + - + - Any process that activates or increases the frequency, rate, or extent of type II hypersensitivity. - up regulation of type II hypersensitivity - up-regulation of type II hypersensitivity - upregulation of type II hypersensitivity - activation of type II hypersensitivity - stimulation of type II hypersensitivity - positive regulation of type II hypersensitivity + Any process that activates or increases the frequency, rate, or extent of cytokine production that contributes to an immune response. + activation of cytokine production during immune response + stimulation of cytokine production during immune response + positive regulation of cytokine production during immune response + up regulation of cytokine production during immune response + up-regulation of cytokine production during immune response + upregulation of cytokine production during immune response + positive regulation of cytokine production involved in immune response - + - + + + + The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to activation or perpetuation of an immune response. + immune response-activating signal transduction + + + + + + + - + - + + + + - + - Any process that modulates the frequency, rate, or extent of a humoral immune response. - regulation of humoral immune response + Any process that modulates the frequency, rate, or extent of an antimicrobial humoral response. + regulation of antimicrobial humoral response - + - + - - + + - - + + + + + - - + + - Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response. - down regulation of humoral immune response - down-regulation of humoral immune response - downregulation of humoral immune response - inhibition of humoral immune response - negative regulation of humoral immune response + Any process that activates or increases the frequency, rate, or extent of an antimicrobial humoral response. + up regulation of antimicrobial humoral response + up-regulation of antimicrobial humoral response + upregulation of antimicrobial humoral response + activation of antimicrobial humoral response + stimulation of antimicrobial humoral response + positive regulation of antimicrobial humoral response - + - + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate, or extent of a humoral immune response. - up regulation of humoral immune response - up-regulation of humoral immune response - upregulation of humoral immune response - activation of humoral immune response - stimulation of humoral immune response - positive regulation of humoral immune response + Any process that modulates the frequency, rate, or extent of myeloid leukocyte differentiation. + regulation of myeloid leukocyte differentiation - + - + - + - - + + - - - A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. - puberty - reproductive developmental process - developmental process involved in reproduction - - - - - - - - - A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. - organ system process - system process + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte differentiation. + down regulation of myeloid leukocyte differentiation + down-regulation of myeloid leukocyte differentiation + downregulation of myeloid leukocyte differentiation + inhibition of myeloid leukocyte differentiation + negative regulation of myeloid leukocyte differentiation - + - - - A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. - circulatory system process + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte differentiation. + up regulation of myeloid leukocyte differentiation + up-regulation of myeloid leukocyte differentiation + upregulation of myeloid leukocyte differentiation + activation of myeloid leukocyte differentiation + stimulation of myeloid leukocyte differentiation + positive regulation of myeloid leukocyte differentiation - + - - - A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). - excretory system process - kidney system process - renal system process + + + + The cascade of processes by which a signal interacts with a receptor, causing a change in the level or activity of a second messenger or other downstream target, and ultimately leading to the activation, perpetuation, or inhibition of an immune response. + immune response-regulating signalling pathway + immune response-regulating signaling pathway - + - - - A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. - cardiac process - heart process + + + + A series of molecular signals initiated by the binding of an extracellular ligand to a receptor on the surface of the target cell capable of activating, perpetuating, or inhibiting an immune response. + immune response-regulating cell surface receptor signalling pathway + immune response-regulating cell surface receptor signaling pathway - + - - - - A system process carried out by the organs and tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. - respiratory gaseous exchange by respiratory system - respiratory system process + + + + + + + + + The synthesis or release of an antimicrobial peptide during an immune response, resulting in an increase in intracellular or extracellular levels. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. + antimicrobial peptide production - + - - - A circulatory process that occurs at the level of the vasculature. - vasculature process - vascular process in circulatory system + + + + + + + + + The regulated release of an antimicrobial peptide from a cell or a tissue. Such peptides may have protective properties against bacteria, fungi, viruses, or protozoa. + antimicrobial peptide secretion - + - + - + - - + + - + + - - + + - Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. - cell motility involved in camera-type eye morphogenesis + Any process that modulates the frequency, rate, or extent of antimicrobial peptide production. + regulation of antimicrobial peptide production - + - - The actions of a single gene product or complex at the molecular level consisting of a single biochemical activity or multiple causally linked biochemical activities. A given gene product may exhibit one or more molecular functions. - molecular function - molecular_function + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide production. + down regulation of antimicrobial peptide production + down-regulation of antimicrobial peptide production + downregulation of antimicrobial peptide production + inhibition of antimicrobial peptide production + negative regulation of antimicrobial peptide production - + - - - - Interacting selectively and non-covalently with any nucleic acid. - nucleic acid binding + + + + The controlled release of a peptide from a cell or a tissue. + peptide secretion - + - - + + + + + + + + + + + + + + - - + + - Interacting selectively and non-covalently with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene in order to modulate transcription. - transcription factor activity - sequence-specific DNA binding transcription factor activity - nucleic acid binding transcription factor activity - DNA binding transcription factor activity + Any process that modulates the frequency, rate, or extent of peptide secretion. + regulation of peptide secretion - + - - + + + + + + + + + + + + + + - - + + - Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. - steroid hormone receptor activity + Any process that stops, prevents, or reduces the frequency, rate, or extent of peptide secretion. + down regulation of peptide secretion + down-regulation of peptide secretion + downregulation of peptide secretion + inhibition of peptide secretion + negative regulation of peptide secretion - + - - - Interacting selectively and non-covalently with an RNA molecule or a portion thereof. - poly(A) RNA binding - poly(A)-RNA binding - poly-A RNA binding - RNA binding + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of peptide secretion. + up regulation of peptide secretion + up-regulation of peptide secretion + upregulation of peptide secretion + activation of peptide secretion + stimulation of peptide secretion + positive regulation of peptide secretion - + - - - Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. - R-glutaminyl-peptide:amine gamma-glutamyl transferase activity - TGase activity - fibrinoligase activity - glutaminylpeptide gamma-glutamyltransferase activity - protein-glutamine:amine gamma-glutamyltransferase - transglutaminase activity - tissue transglutaminase - factor XIIIa - fibrin stabilizing factor - polyamine transglutaminase activity - protein-glutamine gamma-glutamyltransferase activity + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of antimicrobial peptide secretion. + regulation of antimicrobial peptide secretion - + - - - Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. - enzyme activity - catalytic activity + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of antimicrobial peptide secretion. + down regulation of antimicrobial peptide secretion + down-regulation of antimicrobial peptide secretion + downregulation of antimicrobial peptide secretion + inhibition of antimicrobial peptide secretion + negative regulation of antimicrobial peptide secretion - + - - - Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). - 1-pyrroline dehydrogenase - 1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity - L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity - delta1-pyrroline-5-carboxylate dehydrogenase activity - pyrroline-5-carboxylate dehydrogenase activity - pyrroline-5-carboxylic acid dehydrogenase activity - 1-pyrroline-5-carboxylate dehydrogenase activity + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of antimicrobial peptide secretion. + up regulation of antimicrobial peptide secretion + up-regulation of antimicrobial peptide secretion + upregulation of antimicrobial peptide secretion + activation of antimicrobial peptide secretion + stimulation of antimicrobial peptide secretion + positive regulation of antimicrobial peptide secretion - + - - - Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid. - 4-aminobutanoate transaminase activity - 4-aminobutyrate aminotransferase activity - 4-aminobutyric acid aminotransferase activity - GABA aminotransferase activity - GABA transaminase activity - GABA transferase activity - aminobutyrate aminotransferase activity - aminobutyrate transaminase activity - gamma-amino-N-butyrate transaminase activity - gamma-aminobutyrate aminotransaminase activity - gamma-aminobutyrate transaminase activity - gamma-aminobutyric acid aminotransferase activity - gamma-aminobutyric acid transaminase activity - gamma-aminobutyric transaminase activity - glutamate-succinic semialdehyde transaminase activity - beta-alanine aminotransferase - 4-aminobutyrate transaminase activity + + + + + + + + + + + + + + + + + + + + + A physiological defense response which occurs intracellularly. + intracellular defence response + intracellular defense response - + - - + + + + + + + + + + + + + - - + + - Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate. - phosphohexokinase activity - 6-phosphofructokinase reduction - 6-phosphofructose 1-kinase activity - ATP-dependent phosphofructokinase activity - ATP:D-fructose-6-phosphate 1-phosphotransferase activity - D-fructose-6-phosphate 1-phosphotransferase activity - fructose 6-phosphate kinase activity - fructose 6-phosphokinase activity - nucleotide triphosphate-dependent phosphofructokinase activity - phospho-1,6-fructokinase activity - phosphofructokinase (phosphorylating) - phosphofructokinase I activity - PFK - 6-phosphofructokinase activity + Any process that modulates the frequency, rate, or extent of an adaptive immune response. + regulation of adaptive immune response - + - - - Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. - chondroitinsulfatase - N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity - N-acetylgalactosamine 4-sulfate sulfohydrolase activity - N-acetylgalactosamine-4-sulphatase activity - acetylgalactosamine 4-sulfatase activity - arylsulfatase B - N-acetylgalactosamine-4-sulfatase activity + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response. + down regulation of adaptive immune response + down-regulation of adaptive immune response + downregulation of adaptive immune response + inhibition of adaptive immune response + negative regulation of adaptive immune response - + - - - Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. - acyl CoA dehydrogenase activity - acyl coenzyme A dehydrogenase activity - acyl dehydrogenase activity - acyl-CoA reductase activity - acyl-CoA:(acceptor) 2,3-oxidoreductase activity - acyl-CoA:acceptor 2,3-oxidoreductase activity - fatty acyl coenzyme A dehydrogenase activity - fatty-acyl-CoA dehydrogenase activity - general acyl CoA dehydrogenase activity - long-chain acyl coenzyme A dehydrogenase activity - long-chain acyl-CoA dehydrogenase activity - medium-chain acyl-coenzyme A dehydrogenase activity - medium-chain acyl-CoA dehydrogenase activity - acyl-CoA dehydrogenase activity + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. + up regulation of adaptive immune response + up-regulation of adaptive immune response + upregulation of adaptive immune response + activation of adaptive immune response + stimulation of adaptive immune response + positive regulation of adaptive immune response - + - - - - Catalysis of the reaction: adenosine + H2O = inosine + NH3. - adenosine aminohydrolase activity - adenosine deaminase reaction - adenosine deaminase activity + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. + regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains - + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. + negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of an adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains. An example of this process is found in the Gnathostomata. + positive regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of a T-helper 1 type immune response. + regulation of T-helper 1 type immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of a T-helper 1 type immune response. + down regulation of T-helper 1 type immune response + down-regulation of T-helper 1 type immune response + downregulation of T-helper 1 type immune response + inhibition of T-helper 1 type immune response + negative regulation of T-helper 1 type immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of a T-helper 1 type immune response. + up regulation of T-helper 1 type immune response + up-regulation of T-helper 1 type immune response + upregulation of T-helper 1 type immune response + activation of T-helper 1 type immune response + stimulation of T-helper 1 type immune response + positive regulation of T-helper 1 type immune response + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of a type 2 immune response. + regulation of T-helper 2 type immune response + regulation of Th2 immune response + regulation of type 2 immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of a type 2 immune response. + down regulation of type 2 immune response + down-regulation of type 2 immune response + downregulation of type 2 immune response + inhibition of type 2 immune response + negative regulation of T-helper 2 type immune response + negative regulation of Th2 immune response + negative regulation of type 2 immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of a type 2 immune response. + up regulation of type 2 immune response + up-regulation of type 2 immune response + upregulation of type 2 immune response + activation of type 2 immune response + positive regulation of T-helper 2 type immune response + positive regulation of Th2 immune response + stimulation of type 2 immune response + positive regulation of type 2 immune response + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of a response to biotic stimulus. + regulation of response to biotic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of a response to biotic stimulus. + down regulation of response to biotic stimulus + down-regulation of response to biotic stimulus + downregulation of response to biotic stimulus + inhibition of response to biotic stimulus + negative regulation of response to biotic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of a response to biotic stimulus. + up regulation of response to biotic stimulus + up-regulation of response to biotic stimulus + upregulation of response to biotic stimulus + activation of response to biotic stimulus + stimulation of response to biotic stimulus + positive regulation of response to biotic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. + regulation of inflammatory response to antigenic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. + down regulation of inflammatory response to antigenic stimulus + down-regulation of inflammatory response to antigenic stimulus + downregulation of inflammatory response to antigenic stimulus + inhibition of inflammatory response to antigenic stimulus + negative regulation of inflammatory response to antigenic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of an inflammatory response to an antigenic stimulus. + up regulation of inflammatory response to antigenic stimulus + up-regulation of inflammatory response to antigenic stimulus + upregulation of inflammatory response to antigenic stimulus + activation of inflammatory response to antigenic stimulus + stimulation of inflammatory response to antigenic stimulus + positive regulation of inflammatory response to antigenic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. + regulation of acute inflammatory response to antigenic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. + down regulation of acute inflammatory response to antigenic stimulus + down-regulation of acute inflammatory response to antigenic stimulus + downregulation of acute inflammatory response to antigenic stimulus + inhibition of acute inflammatory response to antigenic stimulus + negative regulation of acute inflammatory response to antigenic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of an acute inflammatory response to an antigenic stimulus. + up regulation of acute inflammatory response to antigenic stimulus + up-regulation of acute inflammatory response to antigenic stimulus + upregulation of acute inflammatory response to antigenic stimulus + activation of acute inflammatory response to antigenic stimulus + stimulation of acute inflammatory response to antigenic stimulus + positive regulation of acute inflammatory response to antigenic stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of hypersensitivity. + regulation of hypersensitivity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of hypersensitivity. + down regulation of hypersensitivity + down-regulation of hypersensitivity + downregulation of hypersensitivity + inhibition of hypersensitivity + negative regulation of hypersensitivity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of hypersensitivity. + up regulation of hypersensitivity + up-regulation of hypersensitivity + upregulation of hypersensitivity + activation of hypersensitivity + stimulation of hypersensitivity + positive regulation of hypersensitivity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of myeloid leukocyte mediated immunity. + regulation of myeloid leukocyte mediated immunity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of myeloid leukocyte mediated immunity. + down regulation of myeloid leukocyte mediated immunity + down-regulation of myeloid leukocyte mediated immunity + downregulation of myeloid leukocyte mediated immunity + inhibition of myeloid leukocyte mediated immunity + negative regulation of myeloid leukocyte mediated immunity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of myeloid leukocyte mediated immunity. + up regulation of myeloid leukocyte mediated immunity + up-regulation of myeloid leukocyte mediated immunity + upregulation of myeloid leukocyte mediated immunity + activation of myeloid leukocyte mediated immunity + stimulation of myeloid leukocyte mediated immunity + positive regulation of myeloid leukocyte mediated immunity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of an immunoglobulin mediated immune response. + regulation of immunoglobulin mediated immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of an immunoglobulin mediated immune response. + down regulation of immunoglobulin mediated immune response + down-regulation of immunoglobulin mediated immune response + downregulation of immunoglobulin mediated immune response + inhibition of immunoglobulin mediated immune response + negative regulation of immunoglobulin mediated immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of an immunoglobulin mediated immune response. + up regulation of immunoglobulin mediated immune response + up-regulation of immunoglobulin mediated immune response + upregulation of immunoglobulin mediated immune response + activation of immunoglobulin mediated immune response + stimulation of immunoglobulin mediated immune response + positive regulation of immunoglobulin mediated immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of type II hypersensitivity. + regulation of type II hypersensitivity + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of type II hypersensitivity. + down regulation of type II hypersensitivity + down-regulation of type II hypersensitivity + downregulation of type II hypersensitivity + inhibition of type II hypersensitivity + negative regulation of type II hypersensitivity + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of type II hypersensitivity. + up regulation of type II hypersensitivity + up-regulation of type II hypersensitivity + upregulation of type II hypersensitivity + activation of type II hypersensitivity + stimulation of type II hypersensitivity + positive regulation of type II hypersensitivity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of a humoral immune response. + regulation of humoral immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of a humoral immune response. + down regulation of humoral immune response + down-regulation of humoral immune response + downregulation of humoral immune response + inhibition of humoral immune response + negative regulation of humoral immune response + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate, or extent of a humoral immune response. + up regulation of humoral immune response + up-regulation of humoral immune response + upregulation of humoral immune response + activation of humoral immune response + stimulation of humoral immune response + positive regulation of humoral immune response + + + + + + + + + + + + + + + + + + + + + A developmental process in which a progressive change in the state of some part of an organism specifically contributes to its ability to form offspring. + puberty + reproductive developmental process + developmental process involved in reproduction + + + + + + + + + A multicellular organismal process carried out by any of the organs or tissues in an organ system. An organ system is a regularly interacting or interdependent group of organs or tissues that work together to carry out a biological objective. + organ system process + system process + + + + + + + + + A organ system process carried out by any of the organs or tissues of the circulatory system. The circulatory system is an organ system that moves extracellular fluids to and from tissue within a multicellular organism. + circulatory system process + + + + + + + + + A organ system process carried out by any of the organs or tissues of the renal system. The renal system maintains fluid balance, and contributes to electrolyte balance, acid/base balance, and disposal of nitrogenous waste products. In humans, the renal system comprises a pair of kidneys, a pair of ureters, urinary bladder, urethra, sphincter muscle and associated blood vessels; in other species, the renal system may comprise related structures (e.g., nephrocytes and malpighian tubules in Drosophila). + excretory system process + kidney system process + renal system process + + + + + + + + + A circulatory system process carried out by the heart. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. + cardiac process + heart process + + + + + + + + + + A system process carried out by the organs and tissues of the respiratory system. The respiratory system is an organ system responsible for respiratory gaseous exchange. + respiratory gaseous exchange by respiratory system + respiratory system process + + + + + + + + + A circulatory process that occurs at the level of the vasculature. + vasculature process + vascular process in circulatory system + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. + regulation of extracellular matrix constituent secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency, or extent of the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. + positive regulation of extracellular matrix constituent secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency, or extent the controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell or a group of cells. + negative regulation of extracellular matrix constituent secretion + + + + + + + + + + + + + + + + + + + + + + + + + + Any process involved in the controlled self-propelled movement of a cell that results in translocation of the cell from one place to another and contributes to the physical shaping or formation of the camera-type eye. + cell motility involved in camera-type eye morphogenesis + + + + + + + + The actions of a single gene product or complex at the molecular level consisting of a single biochemical activity or multiple causally linked biochemical activities. A given gene product may exhibit one or more molecular functions. + molecular function + molecular_function + + + + + + + + + + Interacting selectively and non-covalently with any nucleic acid. + nucleic acid binding + + + + + + + + + Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). + plasmid binding + microtubule/chromatin interaction + structure specific DNA binding + structure-specific DNA binding + DNA binding + + + + + + + + + + + + + + + Interacting selectively and non-covalently with a specific DNA sequence (sometimes referred to as a motif) within the regulatory region of a gene in order to modulate transcription. + transcription factor activity + sequence-specific DNA binding transcription factor activity + nucleic acid binding transcription factor activity + DNA binding transcription factor activity + + + + + + + + + + + + + + + Combining with a steroid hormone and transmitting the signal within the cell to initiate a change in cell activity or function. + steroid hormone receptor activity + + + + + + + + + Interacting selectively and non-covalently with an RNA molecule or a portion thereof. + poly(A) RNA binding + poly(A)-RNA binding + poly-A RNA binding + RNA binding + + + + + + + + + Catalysis of the reaction: protein glutamine + alkylamine = protein N5-alkylglutamine + NH3. This reaction is the formation of the N6-(L-isoglutamyl)-L-lysine isopeptide, resulting in cross-linking polypeptide chains; the gamma-carboxamide groups of peptidyl-glutamine residues act as acyl donors, and the 6-amino-groups of peptidyl-lysine residues act as acceptors, to give intra- and intermolecular N6-(5-glutamyl)lysine cross-links. + R-glutaminyl-peptide:amine gamma-glutamyl transferase activity + TGase activity + fibrinoligase activity + glutaminylpeptide gamma-glutamyltransferase activity + protein-glutamine:amine gamma-glutamyltransferase + transglutaminase activity + tissue transglutaminase + factor XIIIa + fibrin stabilizing factor + polyamine transglutaminase activity + protein-glutamine gamma-glutamyltransferase activity + + + + + + + + + Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. + enzyme activity + catalytic activity + + + + + + + + + Catalysis of the reaction: 1-pyrroline-5-carboxylate + NAD+ + H2O = L-glutamate + NADH + H(+). + 1-pyrroline dehydrogenase + 1-pyrroline-5-carboxylate:NAD+ oxidoreductase activity + L-pyrroline-5-carboxylate-NAD+ oxidoreductase activity + delta1-pyrroline-5-carboxylate dehydrogenase activity + pyrroline-5-carboxylate dehydrogenase activity + pyrroline-5-carboxylic acid dehydrogenase activity + 1-pyrroline-5-carboxylate dehydrogenase activity + + + + + + + + + Catalysis of the reaction: 4-aminobutanoate + amino group acceptor = succinate semialdehyde + amino acid. + 4-aminobutanoate transaminase activity + 4-aminobutyrate aminotransferase activity + 4-aminobutyric acid aminotransferase activity + GABA aminotransferase activity + GABA transaminase activity + GABA transferase activity + aminobutyrate aminotransferase activity + aminobutyrate transaminase activity + gamma-amino-N-butyrate transaminase activity + gamma-aminobutyrate aminotransaminase activity + gamma-aminobutyrate transaminase activity + gamma-aminobutyric acid aminotransferase activity + gamma-aminobutyric acid transaminase activity + gamma-aminobutyric transaminase activity + glutamate-succinic semialdehyde transaminase activity + beta-alanine aminotransferase + 4-aminobutyrate transaminase activity + + + + + + + + + + + + + + + Catalysis of the reaction: ATP + D-fructose-6-phosphate = ADP + D-fructose 1,6-bisphosphate. + phosphohexokinase activity + 6-phosphofructokinase reduction + 6-phosphofructose 1-kinase activity + ATP-dependent phosphofructokinase activity + ATP:D-fructose-6-phosphate 1-phosphotransferase activity + D-fructose-6-phosphate 1-phosphotransferase activity + fructose 6-phosphate kinase activity + fructose 6-phosphokinase activity + nucleotide triphosphate-dependent phosphofructokinase activity + phospho-1,6-fructokinase activity + phosphofructokinase (phosphorylating) + phosphofructokinase I activity + PFK + 6-phosphofructokinase activity + + + + + + + + + Catalysis of the hydrolysis of alpha-L-iduronosidic linkages in dermatan sulfate. + alpha-L-iduronidase activity + glycosaminoglycan alpha-L-iduronohydrolase activity + L-iduronidase activity + + + + + + + + + Catalysis of the hydrolysis of the 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. + chondroitinsulfatase + N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase activity + N-acetylgalactosamine 4-sulfate sulfohydrolase activity + N-acetylgalactosamine-4-sulphatase activity + acetylgalactosamine 4-sulfatase activity + arylsulfatase B + N-acetylgalactosamine-4-sulfatase activity + + + + + + + + + Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor. + acyl CoA dehydrogenase activity + acyl coenzyme A dehydrogenase activity + acyl dehydrogenase activity + acyl-CoA reductase activity + acyl-CoA:(acceptor) 2,3-oxidoreductase activity + acyl-CoA:acceptor 2,3-oxidoreductase activity + fatty acyl coenzyme A dehydrogenase activity + fatty-acyl-CoA dehydrogenase activity + general acyl CoA dehydrogenase activity + long-chain acyl coenzyme A dehydrogenase activity + long-chain acyl-CoA dehydrogenase activity + medium-chain acyl-coenzyme A dehydrogenase activity + medium-chain acyl-CoA dehydrogenase activity + acyl-CoA dehydrogenase activity + + + + + + + + + + Catalysis of the reaction: adenosine + H2O = inosine + NH3. + adenosine aminohydrolase activity + adenosine deaminase reaction + adenosine deaminase activity + + + + + @@ -4307,22436 +7099,27900 @@ - + + + + + Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid. + L-amino-acid acylase activity + L-aminoacylase activity + N-acyl-L-amino-acid amidohydrolase activity + alpha-N-acylaminoacid hydrolase activity + amido acid deacylase activity + hippurase activity + long acyl amidoacylase activity + short acyl amidoacylase activity + acylase I activity + aminoacylase I activity + dehydropeptidase II activity + benzamidase activity + histozyme activity + aminoacylase activity + + + + + + + + + + Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA. + acetyl-CoA-carnitine O-acetyltransferase activity + acetyl-CoA:carnitine O-acetyltransferase activity + acetylcarnitine transferase activity + carnitine acetyl coenzyme A transferase activity + carnitine acetylase activity + carnitine acetyltransferase activity + carnitine-acetyl-CoA transferase activity + carnitine O-acetyltransferase I activity + carnitine O-acetyltransferase II activity + CATC + carnitine O-acetyltransferase activity + + + + + + + + + Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. + endoprotease activity + proteasome endopeptidase activity + proteinase + elastase activity + endopeptidase activity + + + + + + + + + + Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). + blood coagulation factor activity + serine elastase activity + serine-type endopeptidase activity + + + + + + + + + Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate. + aldolase activity + 1,6-diphosphofructose aldolase activity + D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming) + D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity + diphosphofructose aldolase activity + fructoaldolase activity + fructose 1,6-diphosphate aldolase activity + fructose 1-monophosphate aldolase activity + fructose 1-phosphate aldolase activity + fructose diphosphate aldolase activity + fructose-1,6-bisphosphate triosephosphate-lyase activity + ketose 1-phosphate aldolase activity + phosphofructoaldolase activity + zymohexase activity + SMALDO + fructose-bisphosphate aldolase activity + + + + + + + + + Catalysis of the reaction: D-galactosyl-N-acylsphingosine + H2O = D-galactose + N-acylsphingosine. + D-galactosyl-N-acylsphingosine galactohydrolase activity + beta-galactocerebrosidase activity + beta-galactosylceramidase activity + ceramide galactosidase activity + cerebroside beta-galactosidase activity + cerebroside galactosidase activity + galactocerebrosidase activity + galactocerebroside beta-galactosidase activity + galactocerebroside galactosidase activity + galactocerebroside-beta-D-galactosidase activity + galactosylceramide beta-galactosidase activity + galactosylcerebrosidase activity + galcerase activity + lactosylceramidase activity + galactosylceramidase I + lactosylceramidase I + galactosylceramidase activity + + + + + + + + + Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose. + lysosomal alpha-glucosidase activity + 1,4-alpha-D-glucan glucohydrolase activity + amyloglucosidase activity + exo-1,4-alpha-glucosidase activity + gamma-1,4-glucan glucohydrolase activity + gamma-amylase activity + glucoamylase activity + glucose amylase activity + glucan 1,4-alpha-glucosidase activity + + + + + + + + + Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+. + 6-phosphoglucose dehydrogenase activity + D-glucose 6-phosphate dehydrogenase activity + D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity + G6PD activity + G6PDH + NADP-dependent glucose 6-phosphate dehydrogenase activity + NADP-glucose-6-phosphate dehydrogenase activity + glucose 6-phosphate dehydrogenase (NADP) activity + glucose-6-phosphate 1-dehydrogenase activity + 6-phosphoglucose dehydrogenas + Entner-doudoroff enzyme + GDH + Zwischenferment + zwischenferment + glucose-6-phosphate dehydrogenase activity + + + + + + + + + Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate. + hexose monophosphate isomerase activity + hexosephosphate isomerase activity + phosphohexoisomerase activity + phosphohexomutase activity + phosphohexose isomerase activity + phosphosaccharomutase activity + D-glucose-6-phosphate aldose-ketose-isomerase activity + D-glucose-6-phosphate ketol-isomerase activity + glucose phosphate isomerase activity + hexose phosphate isomerase activity + phosphoglucoisomerase activity + phosphoglucose isomerase activity + oxoisomerase activity + glucose-6-phosphate isomerase activity + + + + + + + + + Catalysis of the reaction: D-glucosyl-N-acylsphingosine + H2O = D-glucose + N-acylsphingosine. + D-glucosyl-N-acylsphingosine glucohydrolase activity + GlcCer-beta-glucosidase activity + acid beta-glucosidase activity + beta-D-glucocerebrosidase activity + beta-glucocerebrosidase activity + beta-glucosylceramidase activity + ceramide glucosidase activity + glucocerebrosidase activity + glucosphingosine glucosylhydrolase activity + glucosylcerebrosidase activity + glucosylsphingosine beta-D-glucosidase activity + glucosylsphingosine beta-glucosidase activity + psychosine hydrolase activity + glucosylceramidase activity + + + + + + + + + Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2. + aspartic alpha-decarboxylase + L-aspartate-alpha-decarboxylase activity + L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming) + L-glutamate 1-carboxy-lyase activity + L-glutamate alpha-decarboxylase activity + L-glutamic acid decarboxylase activity + L-glutamic decarboxylase activity + cysteic acid decarboxylase activity + gamma-glutamate decarboxylase activity + glutamate decarboxylase activity + + + + + + + + + Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate. + L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity + gamma-glutamyl-L-cysteine synthetase activity + gamma-glutamylcysteine synthetase activity + gamma-glutamylcysteinyl synthetase activity + glutamate-cysteine ligase activity + + + + + + + + + + + + + + + Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate. + GSH synthetase activity + gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming) + glutathione synthetase activity + glutathione synthase activity + + + + + + + + + Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. + chondroitinase activity + hyaluronidase activity + chondroitinase I activity + hyaluronate 4-glycanohydrolase activity + hyaluronoglucosaminidase activity + hyaluronoglucosidase activity + hyalurononglucosaminidase activity + + + + + + + + + Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. + chondroitinsulfatase + 2-sulfo-L-iduronate 2-sulfatase activity + L-iduronate 2-sulfate sulfatase activity + L-iduronate-2-sulfate 2-sulfohydrolase activity + L-idurono sulfate sulfatase activity + L-iduronosulfatase activity + iduronate sulfatase activity + iduronate sulfate sulfatase activity + iduronate-2-sulfate sulfatase activity + iduronate-2-sulphatase activity + iduronide-2-sulfate sulfatase activity + idurono-2-sulfatase activity + sulfo-L-iduronate sulfatase activity + sulfoiduronate sulfohydrolase activity + iduronate-2-sulfatase activity + + + + + + + + + Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate. + lactate dehydrogenase activity + + + + + + + + + Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF. + long-chain acyl-coenzyme A dehydrogenase activity + long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity + long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity + palmitoyl-CoA dehydrogenase activity + palmitoyl-coenzyme A dehydrogenase activity + long-chain-acyl-CoA dehydrogenase activity + + + + + + + + + Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate. + 3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming) + MCCC activity + beta-methylcrotonyl CoA carboxylase activity + beta-methylcrotonyl coenzyme A carboxylase activity + beta-methylcrotonyl-CoA carboxylase activity + methylcrotonyl coenzyme A carboxylase activity + methylcrotonyl-CoA carboxylase activity + methylcrotonoyl-CoA carboxylase activity + + + + + + + + + Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. + hydroxylase activity + monooxygenase activity + + + + + + + + + + Catalysis of the reaction: a steroid + donor-H2 + O2 = a 21-hydroxysteroid + acceptor + H2O. + 21-hydroxylase activity + steroid 21-hydroxylase activity + steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating) + cytochrome P450 CYP21A1 + cytochrome p450 XXIA1 activity + steroid 21-monooxygenase activity + + + + + + + + + Catalysis of the hydrolysis of any O-glycosyl bond. + O-glucosyl hydrolase activity + hydrolase activity, hydrolyzing O-glycosyl compounds + + + + + + + + + Catalysis of the hydrolysis of terminal, non-reducing alpha-D-galactose residues in alpha-D-galactosides, including galactose oligosaccharides, galactomannans and galactohydrolase. + alpha-D-galactosidase activity + alpha-D-galactoside galactohydrolase activity + alpha-galactoside galactohydrolase activity + melibiase activity + alpha-galactosidase A + alpha-galactosidase activity + + + + + + + + + Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-glucosamine residues in N-acetyl-alpha-D-glucosaminides. + N-acetyl-alpha-D-glucosaminidase activity + N-acetyl-alpha-glucosaminidase activity + NAG activity + alpha-D-2-acetamido-2-deoxyglucosidase activity + alpha-N-acetyl-D-glucosaminide N-acetylglucosaminohydrolase activity + alpha-acetylglucosaminidase activity + alpha-N-acetylglucosaminidase activity + + + + + + + + + Catalysis of the hydrolysis of terminal non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. + N-acetyl-beta-D-hexosaminidase activity + N-acetyl-beta-glucosaminidase activity + N-acetyl-beta-hexosaminidase activity + N-acetylhexosaminidase activity + beta-D-N-acetylhexosaminidase activity + beta-D-hexosaminidase activity + beta-N-acetyl-D-hexosaminidase activity + beta-N-acetyl-D-hexosaminide N-acetylhexosaminohydrolase activity + beta-acetylaminodeoxyhexosidase activity + beta-acetylhexosaminidinase activity + beta-hexosaminidase activity + hexosaminidase A + beta-N-acetylhexosaminidase activity + + + + + + + + + Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. + beta-D-galactanase activity + beta-D-galactoside galactohydrolase activity + beta-D-lactosidase activity + beta-lactosidase activity + exo-(1->4)-beta-D-galactanase activity + trilactase activity + S 2107 + hydrolact + lactose hydrolysis + lactozym + maxilact + oryzatym + sumiklat + beta-galactosidase activity + + + + + + + + + Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate. + beta-D-glucuronoside glucuronosohydrolase activity + beta-glucuronide glucuronohydrolase activity + exo-beta-D-glucuronidase activity + glucuronidase activity + ketodase activity + beta-glucuronidase activity + + + + + + + + + + Catalysis of the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O. + donor:hydrogen-peroxide oxidoreductase activity + oxyperoxidase activity + peroxidase reaction + bacterial catalase-peroxidase activity + eosinophil peroxidase activity + extensin peroxidase + guaiacol peroxidase + heme peroxidase + horseradish peroxidase (HRP) + japanese radish peroxidase + lactoperoxidase activity + myeloperoxidase activity + protoheme peroxidase + pyrocatechol peroxidase + scopoletin peroxidase + secretory plant peroxidase activity + thiocyanate peroxidase + verdoperoxidase + MPO + peroxidase activity + + + + + + + + + Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O. + GSH peroxidase activity + glutathione:hydrogen-peroxide oxidoreductase activity + reduced glutathione peroxidase activity + selenium-glutathione peroxidase activity + non-selenium glutathione peroxidase activity + glutathione peroxidase activity + + + + + + + + + Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate. + alpha-D-glucose 1,6-phosphomutase activity + glucose phosphomutase activity + phosphoglucose mutase activity + phosphoglucomutase activity + + + + + + + + + + Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). + 3-phosphoglycerate kinase activity + 3-phosphoglycerate phosphokinase activity + 3-phosphoglyceric acid kinase activity + 3-phosphoglyceric acid phosphokinase activity + 3-phosphoglyceric kinase activity + ATP-3-phospho-D-glycerate-1-phosphotransferase activity + ATP:3-phospho-D-glycerate 1-phosphotransferase activity + ATP:D-3-phosphoglycerate 1-phosphotransferase activity + glycerate 3-phosphate kinase activity + glycerophosphate kinase activity + phosphoglyceric acid kinase activity + phosphoglyceric kinase activity + phosphoglycerokinase activity + 3-PGK + PGK + phosphoglycerate kinase activity + + + + + + + + + Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. + D-phosphoglycerate 2,3-phosphomutase activity + PGA mutase activity + PGAM activity + PGM + monophosphoglycerate mutase activity + monophosphoglyceromutase activity + phosphoglycerate phosphomutase activity + phosphoglyceromutase activity + GriP mutase + MPGM + bisphosphoglyceromutase + diphosphoglycomutase + phosphoglycerate mutase activity + + + + + + + + + Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. + 2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming) + 2-phospho-D-glycerate hydro-lyase activity + 2-phospho-D-glycerate-hydrolase activity + 2-phosphoglycerate dehydratase activity + 2-phosphoglycerate enolase activity + 2-phosphoglyceric dehydratase activity + enolase activity + gamma-enolase activity + phosphoenolpyruvate hydratase activity + nervous-system specific enolase + 14-3-2-protein + phosphopyruvate hydratase activity + + + + + + + + + Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2. + 2-oxo-acid carboxy-lyase (aldehyde-forming) + 2-oxo-acid carboxy-lyase activity + alpha-carboxylase activity + alpha-ketoacid carboxylase activity + pyruvic decarboxylase activity + pyruvate decarboxylase activity + + + + + + + + + + + + + + + Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. + ATP:pyruvate 2-O-phosphotransferase activity + phosphoenol transphosphorylase activity + phosphoenolpyruvate kinase activity + pyruvate kinase activity + + + + + + + + + Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). + 5-phosphoribose pyrophosphorylase activity + 5-phosphoribosyl-1-pyrophosphate synthetase activity + 5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity + ATP:D-ribose-5-phosphate diphosphotransferase activity + PP-ribose P synthetase activity + PPRibP synthetase activity + PRPP synthetase activity + phosphoribosyl diphosphate synthetase activity + phosphoribosyl pyrophosphate synthetase activity + phosphoribosyl-diphosphate synthetase activity + phosphoribosylpyrophosphate synthase activity + phosphoribosylpyrophosphate synthetase activity + pyrophosphoribosylphosphate synthetase activity + ribophosphate pyrophosphokinase activity + ribose-5-phosphate pyrophosphokinase activity + ribose-phosphate diphosphokinase activity + ribose-phosphate pyrophosphokinase activity + ribose phosphate diphosphokinase activity + + + + + + + + + Catalysis of the reaction: L-serine + H(+) + palmitoyl-CoA = 3-dehydrosphinganine + CO(2) + CoA. + serine palmitoyltransferase + 3-oxosphinganine synthetase activity + palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + SPT + acyl-CoA:serine C-2 acyltransferase decarboxylating + serine C-palmitoyltransferase activity + + + + + + + + + Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate. + D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity + D-glyceraldehyde-3-phosphate ketol-isomerase activity + phosphotriose isomerase activity + triose phosphate mutase activity + triose phosphoisomerase activity + triosephosphate isomerase activity + triosephosphate mutase activity + triose-phosphate isomerase activity + + + + + + + + + + + + + + + + + + + + + + + + + + Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. + hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity + quorum sensing response regulator activity + quorum sensing signal generator activity + signal transducer activity + + + + + + + + + true + + + + + + + + + + + + + + + + + + + + + Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. + anaphylatoxin receptor activity + complement receptor activity + + + + + + + + + + + + + + + + + Combining with a signal and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription by RNA polymerase II. + RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding + ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity + nuclear hormone receptor + ligand-dependent nuclear receptor activity + ligand-dependent transcription factor activity + nuclear receptor activity + nuclear receptor activity + + + + + + + + + + + + + + + + + + + + + + Combining with an androgen and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with an androgen response element in DNA in order to modulate transcription by RNA polymerase II. + androgen response element binding + androgen receptor activity + + + + + + + + + + + + + + + + Combining with thyroid hormone and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription by RNA polymerase II. + thyroid hormone receptor activity + + + + + + + + + Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. + transmembrane receptor activity + transmembrane signalling receptor activity + transmembrane signaling receptor activity + + + + + + + + + + + + + + + + + + + + + Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. + IL receptor + interleukin receptor activity + hematopoietin/interferon-class (D200-domain) cytokine receptor activity + cytokine receptor activity + + + + + + + + + + + + + + + + Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. + ionotropic glutamate receptor activity + + + + + + + + + + + An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. + N-methyl-D-aspartate selective glutamate receptor activity + NMDA receptor + NMDA glutamate receptor activity + + + + + + + + + Interacting selectively and non-covalently with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. + receptor binding + receptor ligand + receptor-associated protein activity + signaling receptor binding + + + + + + + + + Functions to control the survival, growth, differentiation and effector function of tissues and cells. + autocrine activity + paracrine activity + cytokine activity + + + + + + + + + The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. + cAMP generating peptide activity + glycopeptide hormone + lipopeptide hormone + peptide hormone + hormone activity + + + + + + + + + The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. + GnRH activity + LH/FSH-RF + LHRH activity + gonadotrophin hormone-releasing hormone activity + luteinizing hormone-releasing factor activity + luteinizing hormone-releasing hormone activity + luteinizing hormone/follicle-stimulating hormone releasing factor activity + gonadotropin hormone-releasing hormone activity + + + + + + + + + Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. + carrier + transporter activity + + + + + + + + + + + Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). + ion channel activity + + + + + + + + + Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts. + extracellular ligand-gated ion channel activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. + excitatory extracellular ligand-gated ion channel activity + + + + + + + + + A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes. + intercellular channel + innexin channel activity + innexin + connexin + gap junction channel activity + + + + + + + + + + Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. + voltage gated ion channel activity + voltage-dependent ion channel activity + voltage-gated ion channel activity + + + + + + + + + + Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. + cation diffusion facilitator activity + non-selective cation channel activity + cation channel activity + + + + + + + + + + Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. + calcium channel activity + + + + + + + + + + + + + + + Enables the transfer of organic acids from one side of a membrane to the other. Organic acids are acidic compound containing carbon in covalent linkage, + organic acid transmembrane transporter activity + + + + + + + + + + + + + + + Enables the transfer of iron (Fe) ions from one side of a membrane to the other. + iron transporter activity + transmembrane iron ion permease activity + transmembrane iron permease activity + multicopper ferroxidase iron transport mediator activity + zinc, iron permease activity + iron ion transmembrane transporter activity + + + + + + + + + The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. + ligand + binding + + + + + + + + + + Interacting selectively and non-covalently with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. + steroid binding + + + + + + + + + Interacting selectively and non-covalently with any androgen, male sex hormones. + androgen binding + + + + + + + + + + Interacting selectively and non-covalently with vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). + calciferol binding + cholecalciferol binding + ergocalciferol binding + vitamin D binding + + + + + + + + + Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). + protein amino acid binding + glycoprotein binding + protein binding + + + + + + + + + Interacting selectively and non-covalently with collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). + collagen binding + + + + + + + + The part of a cell, extracellular environment or virus in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together. + cell or subcellular entity + cellular component + subcellular entity + cellular_component + + + + + + + + + The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. + extracellular + extracellular region + + + + + + + + + A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity. An example of this component is found in Mus musculus. + proteinaceous extracellular matrix + + + + + + + + + + + + + + + + A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow. + MAC + TCC + terminal complement complex + membrane attack complex protein alphaM chain + membrane attack complex protein beta2 chain + membrane attack complex + + + + + + + + + A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. + collagen trimer + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any triple helical collagen trimer that forms fibrils. + fibrillar collagen trimer + + + + + + + + + A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils. + collagen type II trimer + + + + + + + + + A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils. + collagen type XI trimer + + + + + + + + + A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences. + FACIT collagen trimer + + + + + + + + + A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils. + collagen type IX trimer + + + + + + + + + + + + + + + A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. + basement membrane + + + + + + + + + That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. + intercellular space + extracellular space + + + + + + + + + The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. + internal to cell + protoplasm + nucleocytoplasm + protoplast + intracellular + + + + + + + + + The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. + cell + + + + + + + + + A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. + cell nucleus + horsetail nucleus + nucleus + + + + + + + + + + + + + + + The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. + nuclear lamina + + + + + + + + + A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. + interphase chromosome + prophase chromosome + chromatid + chromosome + + + + + + + + + + + + + + + + + + + + + The dispersed less dense form of chromatin in the interphase nucleus. It exists in at least two forms, a some being in the form of transcriptionally active chromatin which is the least condensed, while the rest is inactive euchromatin which is more condensed than active chromatin but less condensed than heterochromatin. + nuclear euchromatin + + + + + + + + + + + + + + + + + + + + + A condensed form of chromatin, occurring in the nucleus during interphase, that stains strongly with basophilic dyes. The DNA of heterochromatin is typically replicated at a later stage in the cell-division cycle than euchromatin. + nuclear heterochromatin + + + + + + + + + + + + + + + + A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. + nucleolus + + + + + + + + + All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. + cytoplasm + + + + + + + + + + A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. + mitochondria + mitochondrion + + + + + + + + + + The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. + mitochondrial envelope + + + + + + + + + + The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. + inner mitochondrial membrane + mitochondrial inner membrane + + + + + + + + + + + + + + + + + + + + + + + + + + + The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. + mitochondrial electron transport chain + mitochondrial respiratory chain + + + + + + + + + + + + + + + + + + + + + + + + + + + + A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. + mitochondrial respiratory chain complex I + + + + + + + + + + + + + + + + + + + + + + + + + + + A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. + mitochondrial coenzyme Q-cytochrome c oxidoreductase complex + mitochondrial coenzyme Q-cytochrome c reductase complex + mitochondrial complex III + mitochondrial cytochrome bc(1) complex + mitochondrial cytochrome bc1 complex + mitochondrial ubiquinol-cytochrome c oxidoreductase complex + mitochondrial ubiquinol-cytochrome-c reductase complex + mitochondrial electron transport complex III + mitochondrial respiratory chain complex III + + + + + + + + + + + + + + + + + + + + + A proton-transporting ATP synthase complex found in the mitochondrial membrane. + mitochondrial respiratory chain complex V + mitochondrial proton-transporting ATP synthase complex + + + + + + + + + + The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. + mitochondrial lumen + mitochondrial stroma + mitochondrial matrix + + + + + + + + + + + + + + + + + + + + + + + + + + + A ribosome found in the mitochondrion of a eukaryotic cell; contains a characteristic set of proteins distinct from those of cytosolic ribosomes. + 55S ribosome, mitochondrial + mitochondrial ribosome + + + + + + + + + A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. + lysosome + + + + + + + + + A lysosome before it has fused with a vesicle or vacuole. + primary lysosome + + + + + + + + + + A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. + vacuolar carboxypeptidase Y + vacuole + + + + + + + + + + + + + + + + + + + + + The volume enclosed within the vacuolar membrane. + vacuolar lumen + + + + + + + + + A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. + peroxisome vesicle + peroxisomal + peroxisome + + + + + + + + + + + + + + + + A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. + Golgi + Golgi complex + Golgi ribbon + Golgi apparatus + + + + + + + + + The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. + cytosol + + + + + + + + + + + An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins. + free ribosome + membrane bound ribosome + ribosomal RNA + ribosome + + + + + + + + + + + + + + + + The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. + juxtamembrane + cell membrane + cellular membrane + cytoplasmic membrane + plasmalemma + bacterial inner membrane + inner endospore membrane + plasma membrane lipid bilayer + plasma membrane + + + + + + + + + + + + + + + + + + + + + The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. + integral to plasma membrane + integral component of plasma membrane + + + + + + + + + A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. + caveolae + caveolar membrane + caveola + + + + + + + + + A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic junctions such as ring canals. + intercellular junction + cell-cell junction + + + + + + + + + + + + + + + + A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. + eukaryotic flagellum + microtubule-based flagellum + primary cilium + flagellum + cilium + + + + + + + + + + + + + + + + + + + + + + + + + + + Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase. + pyruvate dehydrogenase complex (lipoamide) + mitochondrial pyruvate dehydrogenase complex + + + + + + + + + + The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. + carbohydrate metabolism + multicellular organismal carbohydrate metabolic process + single-organism carbohydrate metabolic process + carbohydrate metabolic process + + + + + + + + + + The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. + polysaccharide metabolism + glycan metabolic process + glycan metabolism + multicellular organismal polysaccharide metabolic process + polysaccharide metabolic process + + + + + + + + + + The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. + glycogen metabolism + glycogen metabolic process + + + + + + + + + + The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. + monosaccharide metabolism + monosaccharide metabolic process + + + + + + + + + The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. + fructose metabolism + fructose metabolic process + + + + + + + + + The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. + cellular glucose metabolic process + glucose metabolism + glucose metabolic process + + + + + + + + + The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. + galactose metabolism + galactose metabolic process + + + + + + + + + + + The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. + aminoglycan metabolism + aminoglycan metabolic process + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. + aminoglycan anabolism + aminoglycan biosynthesis + aminoglycan formation + aminoglycan synthesis + aminoglycan biosynthetic process + + + + + + + + + + The chemical reactions and pathways resulting in the formation of glycosaminoglycans, any of a group of polysaccharides that contain amino sugars. + glycosaminoglycan anabolism + glycosaminoglycan biosynthesis + glycosaminoglycan formation + glycosaminoglycan synthesis + glycosaminoglycan biosynthetic process + + + + + + + + + + The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. + alcohol metabolism + alcohol metabolic process + + + + + + + + + The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. + glycerol metabolism + glycerol metabolic process + + + + + + + + + + The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. + cellular glucan metabolism + cellular glucan metabolic process + + + + + + + + + + + The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. + organic acid metabolism + organic acid metabolic process + + + + + + + + + The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. + pyruvate metabolism + pyruvate dehydrogenase bypass + pyruvate metabolic process + + + + + + + + + The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. + energy pathways + intermediary metabolism + metabolic energy generation + generation of precursor metabolites and energy + + + + + + + + + + The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. + glucose biosynthesis + glucose biosynthetic process + gluconeogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. + Embden-Meyerhof pathway + Embden-Meyerhof-Parnas pathway + anaerobic glycolysis + glycolysis + modifed Embden-Meyerhof pathway + glycolytic process + + + + + + + + + + + + + + + + A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. + Krebs cycle + TCA cycle + citric acid cycle + tricarboxylic acid cycle + + + + + + + + + + The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle. + citrate metabolism + citrate metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. + regulation of carbohydrate metabolism + regulation of carbohydrate metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glycolysis. + regulation of glycolysis involved in cellular glucose homeostasis + regulation of glycolytic process + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. + regulation of glucose biosynthesis + regulation of glucose biosynthetic process + regulation of gluconeogenesis involved in cellular glucose homeostasis + regulation of gluconeogenesis + + + + + + + + + The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. + energy reserve metabolism + energy reserve metabolic process + + + + + + + + + + + + + + + + + The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. + respiratory-chain phosphorylation + oxidative phosphorylation + + + + + + + + + + + + + Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. + cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process + cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism + nucleobase, nucleoside, nucleotide and nucleic acid metabolism + nucleobase, nucleoside and nucleotide metabolic process + nucleobase, nucleoside, nucleotide and nucleic acid metabolic process + nucleobase-containing compound metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. + regulation of nucleotide metabolism + regulation of nucleotide metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. + regulation of purine base metabolic process + regulation of purine base metabolism + regulation of purine nucleobase metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. + regulation of pyrimidine base metabolic process + regulation of pyrimidine base metabolism + regulation of pyrimidine nucleobase metabolic process + + + + + + + + + + The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. + purine base metabolic process + purine base metabolism + purine metabolic process + purine metabolism + purine nucleobase metabolic process + + + + + + + + + + The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. + purine nucleotide metabolism + purine metabolic process + purine metabolism + purine nucleotide metabolic process + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. + purine nucleotide anabolism + purine nucleotide biosynthesis + purine nucleotide formation + purine nucleotide synthesis + purine nucleotide biosynthetic process + + + + + + + + + + The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. + nucleoside diphosphate phosphorylation + + + + + + + + + + The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. + pyrimidine base metabolic process + pyrimidine base metabolism + pyrimidine metabolic process + pyrimidine metabolism + pyrimidine nucleobase metabolic process + + + + + + + + + + Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. + DNA metabolism + cellular DNA metabolism + DNA metabolic process + + + + + + + + + + The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. + DNA repair + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of DNA repair. + regulation of DNA repair + + + + + + + + + A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). + NER + pyrimidine-dimer repair, DNA damage excision + intrastrand cross-link repair + nucleotide-excision repair + + + + + + + + + Any process in which a new genotype is formed by reassortment of genes resulting in gene combinations different from those that were present in the parents. In eukaryotes genetic recombination can occur by chromosome assortment, intrachromosomal recombination, or nonreciprocal interchromosomal recombination. Interchromosomal recombination occurs by crossing over. In bacteria it may occur by genetic transformation, conjugation, transduction, or F-duction. + DNA recombination + + + + + + + + + + + + + + + Any process in which DNA and associated proteins are formed into a compact, orderly structure. + DNA condensation + DNA organisation + DNA organization + DNA packaging + + + + + + + + + + + + + + + + The cellular synthesis of RNA on a template of DNA. + cellular transcription + transcription + DNA-dependent transcription + cellular transcription, DNA-dependent + transcription, DNA-dependent + transcription regulator activity + transcription, DNA-templated + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. + transcriptional control + regulation of cellular transcription, DNA-dependent + regulation of transcription, DNA-dependent + regulation of gene-specific transcription + regulation of transcription, DNA-templated + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. + regulation of transcription from Pol II promoter + regulation of transcription from RNA polymerase II promoter + global transcription regulation from Pol II promoter + regulation of gene-specific transcription from RNA polymerase II promoter + regulation of global transcription from Pol II promoter + regulation of transcription from RNA polymerase II promoter, global + regulation of transcription by RNA polymerase II + + + + + + + + + The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). + transcription from Pol II promoter + transcription from RNA polymerase II promoter + RNA polymerase II transcription factor activity + gene-specific transcription from RNA polymerase II promoter + general transcription from RNA polymerase II promoter + specific transcription from RNA polymerase II promoter + transcription by RNA polymerase II + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. + transcription from mitochondrial promoter + mitochondrial transcription + + + + + + + + + + + + + + + Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. + RNA processing + + + + + + + + + + The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). + protein modification process + process resulting in protein modification + protein tagging activity + cellular protein modification process + + + + + + + + + + + + + + + + A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. + protein amino acid glycosylation + protein glycosylation + + + + + + + + + A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. + protein amino acid N-linked glycosylation + N-glycan biosynthesis + N-glycan metabolism + protein N-linked glycosylation + + + + + + + + + A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. + protein amino acid O-linked glycosylation + protein O-linked glycosylation + + + + + + + + + + + + + + + The covalent attachment of lipid groups to an amino acid in a protein. + lipid:protein modification + protein amino acid lipidation + protein lipidation + + + + + + + + + + The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. + GPI/GSI anchor metabolic process + GPI/GSI anchor metabolism + GPI anchor metabolism + glycosylphosphatidylinositol metabolic process + glycosylphosphatidylinositol metabolism + GPI anchor metabolic process + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. + GPI/GSI anchor biosynthesis + GPI/GSI anchor biosynthetic process + GPI anchor anabolism + GPI anchor biosynthesis + GPI anchor formation + GPI anchor synthesis + glycosylphosphatidylinositol biosynthesis + glycosylphosphatidylinositol biosynthetic process + GPI anchor biosynthetic process + + + + + + + + + The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. + peptidolysis + ATP-dependent proteolysis + proteolysis + + + + + + + + + + The removal of sugar residues from a glycosylated protein. + glycoprotein deglycosylation + protein deglycosylation + + + + + + + + + + The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. + peptide metabolism + peptide metabolic process + + + + + + + + + + + The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. + amino acid and derivative metabolism + amino acid metabolic process + cellular amino acid and derivative metabolic process + cellular amino acid metabolism + cellular amino acid metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. + regulation of amino acid metabolism + regulation of cellular amino acid metabolic process + + + + + + + + + The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. + glutamine metabolism + glutamine metabolic process + + + + + + + + + + The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. + histidine metabolism + histidine metabolic process + + + + + + + + + + + The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. + phenylalanine metabolic process + phenylalanine metabolism + L-phenylalanine metabolism + L-phenylalanine metabolic process + + + + + + + + + The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. + L-serine metabolism + L-serine metabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. + L-serine anabolism + L-serine biosynthesis + L-serine formation + L-serine synthesis + L-serine biosynthetic process + + + + + + + + + + + The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. + tryptophan metabolism + tryptophan metabolic process + + + + + + + + + + The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. + tyrosine metabolism + tyrosine metabolic process + + + + + + + + + + + The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. + tyrosine breakdown + tyrosine catabolism + tyrosine degradation + tyrosine catabolic process + + + + + + + + + + The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. + valine metabolism + valine metabolic process + + + + + + + + + + The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. + amino acid derivative metabolic process + cellular amino acid derivative metabolic process + cellular amino acid derivative metabolism + cellular modified amino acid metabolism + modified amino acid metabolic process + modified amino acid metabolism + cellular modified amino acid metabolic process + + + + + + + + + The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. + biogenic amine metabolism + cellular biogenic amine metabolic process + + + + + + + + + + The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. + catecholamine metabolism + catecholamine metabolic process + + + + + + + + + + The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. + indolamine metabolic process + indolamine metabolism + indolalkylamine metabolism + indolalkylamine metabolic process + + + + + + + + + + + The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. + creatine metabolism + creatine metabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes. + vacuolar protein maturation + vacuolar proteolysis + vacuolar protein processing + + + + + + + + + + The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. + lipid metabolism + lipid metabolic process + + + + + + + + + + The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. + fatty acid metabolism + fatty acid metabolic process + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. + fatty acid anabolism + fatty acid biosynthesis + fatty acid formation + fatty acid synthesis + fatty acid biosynthetic process + + + + + + + + + The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. + membrane lipid metabolism + membrane lipid metabolic process + + + + + + + + + + + The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. + phospholipid metabolism + phospholipid metabolic process + + + + + + + + + + The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. + glycerophospholipid metabolism + phosphoglyceride metabolic process + phosphoglyceride metabolism + alpha-glycerophosphate pathway + glycerophospholipid metabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. + PtdIns biosynthesis + PtdIns biosynthetic process + phosphatidylinositol anabolism + phosphatidylinositol biosynthesis + phosphatidylinositol formation + phosphatidylinositol synthesis + phosphoinositide biosynthesis + phosphoinositide biosynthetic process + phosphatidylinositol biosynthetic process + + + + + + + + + The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. + glycerol ether metabolism + glycerol ether metabolic process + + + + + + + + + + The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. + glycolipid metabolism + glycolipid metabolic process + + + + + + + + + + The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). + sphingolipid metabolism + sphingolipid metabolic process + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. + steroid anabolism + steroid biosynthesis + steroid formation + steroid synthesis + steroidogenesis + steroid biosynthetic process + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. + cholesterol anabolism + cholesterol biosynthesis + cholesterol formation + cholesterol synthesis + cholesterol biosynthetic process + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. + bile acid anabolism + bile acid biosynthesis + bile acid formation + bile acid synthesis + bile acid biosynthetic process + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. + glucocorticoid anabolism + glucocorticoid biosynthesis + glucocorticoid formation + glucocorticoid synthesis + glucocorticoid biosynthetic process + + + + + + + + + The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. + isoprenoid metabolism + polyisoprenoid metabolic process + polyisoprenoid metabolism + polyterpene metabolic process + polyterpene metabolism + isoprenoid metabolic process + + + + + + + + + The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. + terpenoid metabolism + terpenoid metabolic process + + + + + + + + + The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. + aromatic compound metabolism + aromatic hydrocarbon metabolic process + aromatic hydrocarbon metabolism + cellular aromatic compound metabolic process + + + + + + + + + The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. + coenzyme and prosthetic group metabolic process + coenzyme and prosthetic group metabolism + coenzyme metabolism + group transfer coenzyme metabolic process + group transfer coenzyme metabolism + coenzyme metabolic process + + + + + + + + + The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed. + oxidoreduction coenzyme metabolism + oxidoreduction coenzyme metabolic process + + + + + + + + + + The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. + coenzyme Q metabolic process + coenzyme Q metabolism + ubiquinone metabolism + ubiquinone metabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. + coenzyme Q biosynthesis + coenzyme Q biosynthetic process + ubiquinone anabolism + ubiquinone biosynthesis + ubiquinone formation + ubiquinone synthesis + coenzyme Q10 biosynthesis + coenzyme Q10 biosynthetic process + coenzyme Q6 biosynthesis + coenzyme Q6 biosynthetic process + coenzyme Q8 biosynthesis + coenzyme Q8 biosynthetic process + coenzyme Q9 biosynthesis + coenzyme Q9 biosynthetic process + ubiquinone biosynthetic process + + + + + + + + + + + + The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. + glutathione metabolism + oxidized glutathione reduction + glutathione metabolic process + + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins. + glutathione anabolism + glutathione biosynthesis + glutathione formation + glutathione synthesis + glutathione biosynthetic process + + + + + + + + + + + The chemical reactions and pathways involving any phosphorylated nucleoside. + nucleoside phosphate metabolism + nucleoside phosphate metabolic process + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. + ATP anabolism + ATP biosynthesis + ATP formation + ATP synthesis + ATP regeneration + ATP biosynthetic process + + + + + + + + + + + + The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. + ADP phosphorylation + ATP generation from ADP + + + + + + + + + + + + + The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. + folate and derivative metabolic process + folate and derivative metabolism + folate-containing compound metabolic process + folate-containing compound metabolism + folic acid and derivative metabolic process + folic acid and derivative metabolism + folic acid-containing compound metabolism + vitamin B9 and derivative metabolic process + vitamin B9 and derivative metabolism + vitamin M and derivative metabolic process + vitamin M and derivative metabolism + folic acid-containing compound metabolic process + + + + + + + + + The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. + vitamin metabolism + vitamin metabolic process + + + + + + + + + The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. + water-soluble vitamin metabolism + water-soluble vitamin metabolic process + + + + + + + + + + + + + + + + + The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. + biotin metabolism + vitamin B7 metabolic process + vitamin B7 metabolism + vitamin H metabolic process + vitamin H metabolism + biotin metabolic process + + + + + + + + + The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. + fat-soluble vitamin metabolism + fat-soluble vitamin metabolic process + + + + + + + + + + The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. + vitamin A metabolism + vitamin A metabolic process + + + + + + + + + + The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. + porphyrin metabolic process + porphyrin metabolism + porphyrin-containing compound metabolic process + + + + + + + + + The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. + sulfur metabolism + sulphur metabolic process + sulphur metabolism + sulfur compound metabolic process + + + + + + + + + The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). + phosphorus metabolism + phosphorus metabolic process + + + + + + + + + The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. + phosphate metabolism + phosphate metabolic process + phosphate-containing compound metabolic process + + + + + + + + + The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. + nitrogen compound metabolism + nitrogen compound metabolic process + + + + + + + + + The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. + small molecule transport + solute:solute exchange + single-organism transport + transport + + + + + + + + + The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + ion transport + + + + + + + + + The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + di-, tri-valent inorganic cation transport + cation transport + + + + + + + + + The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + calcium transport + mitochondrial sodium/calcium ion exchange + sodium:calcium exchange + calcium ion transport + + + + + + + + + The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + anion transport + + + + + + + + + The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + chloride transport + + + + + + + + + The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + iron transport + iron ion transport + + + + + + + + + The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + sodium:dicarboxylate transport + dicarboxylic acid transport + + + + + + + + + The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. + sodium:neurotransmitter transport + neurotransmitter transport + + + + + + + + + + + + The directed movement of serotonin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Serotonin (5-hydroxytryptamine) is a monoamine neurotransmitter occurring in the peripheral and central nervous systems. + serotonin transport + + + + + + + + + Transport of substances into, out of or within a mitochondrion. + mitochondrial alpha-ketoglutarate/malate transport + mitochondrial aspartate/glutamate transport + mitochondrial sodium/calcium ion exchange + mitochondrial transport + + + + + + + + + + The process in which a drug is transported across a membrane. + drug membrane transport + multidrug transport + drug transmembrane transport + + + + + + + + + + + + + + + + + + + + + + + + + + The transport of substances that occurs outside cells. + extracellular transport + + + + + + + + + + + + + + + + + + + + + The directed extracellular movement of carbohydrates. + extracellular carbohydrate transport + + + + + + + + + + + + + + + + + + + + + The directed extracellular movement of amino acids. + extracellular amino acid transport + + + + + + + + + + The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + amino acid transport + + + + + + + + + + + + + + + The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. + lipid transport + + + + + + + + + + Any process involved in the maintenance of an internal steady state of ions at the level of a cell. + cellular ion homeostasis + + + + + + + + + + + Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. + regulation of calcium ion concentration + cellular calcium ion homeostasis + + + + + + + + + + Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. + cellular heavy metal ion homeostasis + cellular metal ion homeostasis + + + + + + + + + + Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. + copper homeostasis + cellular copper ion homeostasis + + + + + + + + + + Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. + iron homeostasis + cellular iron ion homeostasis + + + + + + + + + Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. + hydrogen ion homeostasis + regulation of pH + + + + + + + + + + + + + + + + The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. + copper-induced intracellular protein transport + intracellular protein transport + + + + + + + + + + + + + + + + + + + + + + A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. + endocytic import into cell + vesicle endocytosis + plasma membrane invagination + nonselective vesicle endocytosis + endocytosis + + + + + + + + + + + + + + + + The evagination of a membrane, resulting in formation of a vesicle. + membrane evagination + vesicle biosynthesis + vesicle formation + nonselective vesicle assembly + single organism membrane budding + single-organism membrane budding + vesicle budding + vesicle budding from membrane + + + + + + + + + + + + + + + + + + + + + The process in which vesicles are directed to specific destination membranes. Targeting involves coordinated interactions among cytoskeletal elements (microtubules or actin filaments), motor proteins, molecules at the vesicle membrane and target membrane surfaces, and vesicle cargo. + vesicle targeting + + + + + + + + + An endocytosis process that results in the engulfment of external particulate material by phagocytes. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. + phagocytosis + + + + + + + + + + + + + + + + + + + + + + + + + + The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. + phagosome biosynthesis + phagosome formation + phagocytosis, engulfment + + + + + + + + + + + + + + + + + + + + + A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. + cell suicide + cellular suicide + apoptotic cell death + apoptotic programmed cell death + programmed cell death by apoptosis + activation of apoptosis + apoptosis + apoptosis signaling + apoptotic program + type I programmed cell death + apoptosis activator activity + caspase-dependent programmed cell death + commitment to apoptosis + induction of apoptosis + induction of apoptosis by p53 + signaling (initiator) caspase activity + apoptotic process + + + + + + + + + + + + + + + + + + + + + + + + + + The breakdown of structures such as organelles, proteins, or other macromolecular structures during apoptosis. + cellular component disassembly involved in apoptotic process + disassembly of cell structures + cellular component disassembly involved in apoptosis + cellular component disassembly involved in execution phase of apoptosis + + + + + + + + + The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. + cellular component motion + cellular component movement + cell movement + movement of cell or subcellular component + + + + + + + + + + + + + + + The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). + taxis in response to chemical stimulus + chemotaxis + + + + + + + + + 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 disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). + response to abiotic stress + response to biotic stress + response to stress + + + + + + + + + Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. + defence response + physiological defense response + antimicrobial peptide activity + defense/immunity protein activity + defense response + + + + + + + + + The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. + Inflammation + inflammatory response + + + + + + + + + + Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. + immune response + + + + + + + + + + + + Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. + complement cascade + complement response + complement activity + complement activation + + + + + + + + + An immune response mediated through a body fluid. + humoral immune response + + + + + + + + + A defense response that is mediated by cells. + cellular defence response + cellular defense response + + + + + + + + + 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism. + response to DNA damage stimulus + DNA damage response + cellular DNA damage response + response to genotoxic stress + cellular response to DNA damage stimulus + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. + organelle organisation + single organism organelle organization + organelle organization and biogenesis + single-organism organelle organization + organelle organization + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the nucleus. + nuclear organisation + nuclear organization + nuclear morphology + nuclear organization and biogenesis + nucleus organization and biogenesis + nucleus organization + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. + mitochondria organization + mitochondrion organisation + mitochondrion organization and biogenesis + mitochondrion organization + + + + + + + + + + + + + + + + + + + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. + mitochondrial membrane organisation + mitochondrial membrane organization and biogenesis + mitochondrial membrane organization + + + + + + + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. + plasma membrane organisation + plasma membrane organization and biogenesis + plasma membrane organization + + + + + - - - Catalysis of the reaction: an N-acyl-L-amino acid + H2O = a carboxylate + an L-amino acid. - L-amino-acid acylase activity - L-aminoacylase activity - N-acyl-L-amino-acid amidohydrolase activity - alpha-N-acylaminoacid hydrolase activity - amido acid deacylase activity - hippurase activity - long acyl amidoacylase activity - short acyl amidoacylase activity - acylase I activity - aminoacylase I activity - dehydropeptidase II activity - benzamidase activity - histozyme activity - aminoacylase activity + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures. + cytoskeleton organisation + cytoskeletal organization and biogenesis + cytoskeletal regulator activity + cytoskeleton organization and biogenesis + cytoskeleton organization - + - - - - Catalysis of the reaction: acetyl-CoA + carnitine = (R)-O-acetylcarnitine + CoA. - acetyl-CoA-carnitine O-acetyltransferase activity - acetyl-CoA:carnitine O-acetyltransferase activity - acetylcarnitine transferase activity - carnitine acetyl coenzyme A transferase activity - carnitine acetylase activity - carnitine acetyltransferase activity - carnitine-acetyl-CoA transferase activity - carnitine O-acetyltransferase I activity - carnitine O-acetyltransferase II activity - CATC - carnitine O-acetyltransferase activity + + + Any cellular process that depends upon or alters the microtubule cytoskeleton, that part of the cytoskeleton comprising microtubules and their associated proteins. + microtubule-based process - + - - - Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. - endoprotease activity - proteasome endopeptidase activity - proteinase - elastase activity - endopeptidase activity + + + + A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. + microtubule-based movement - + - - - - Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). - blood coagulation factor activity - serine elastase activity - serine-type endopeptidase activity + + + The directed movement of substances into, out of or within a vacuole. + vacuolar transport - + - - - Catalysis of the reaction: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde-3-phosphate. - aldolase activity - 1,6-diphosphofructose aldolase activity - D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase (glycerone-phosphate-forming) - D-fructose-1,6-bisphosphate D-glyceraldehyde-3-phosphate-lyase activity - diphosphofructose aldolase activity - fructoaldolase activity - fructose 1,6-diphosphate aldolase activity - fructose 1-monophosphate aldolase activity - fructose 1-phosphate aldolase activity - fructose diphosphate aldolase activity - fructose-1,6-bisphosphate triosephosphate-lyase activity - ketose 1-phosphate aldolase activity - phosphofructoaldolase activity - zymohexase activity - SMALDO - fructose-bisphosphate aldolase activity + + + + + + + + + + + + + + + + + + + + Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. + vacuolar calcium ion homeostasis - + - - - Catalysis of the hydrolysis of terminal (1->4)-linked alpha-D-glucose residues successively from non-reducing ends of the chains with release of beta-D-glucose. - lysosomal alpha-glucosidase activity - 1,4-alpha-D-glucan glucohydrolase activity - amyloglucosidase activity - exo-1,4-alpha-glucosidase activity - gamma-1,4-glucan glucohydrolase activity - gamma-amylase activity - glucoamylase activity - glucose amylase activity - glucan 1,4-alpha-glucosidase activity + + + The directed movement of substances into, out of or within a lysosome. + lysosomal transport - + - - - Catalysis of the reaction: D-glucose 6-phosphate + NADP+ = D-glucono-1,5-lactone 6-phosphate + NADPH + H+. - 6-phosphoglucose dehydrogenase activity - D-glucose 6-phosphate dehydrogenase activity - D-glucose-6-phosphate:NADP+ 1-oxidoreductase activity - G6PD activity - G6PDH - NADP-dependent glucose 6-phosphate dehydrogenase activity - NADP-glucose-6-phosphate dehydrogenase activity - glucose 6-phosphate dehydrogenase (NADP) activity - glucose-6-phosphate 1-dehydrogenase activity - 6-phosphoglucose dehydrogenas - Entner-doudoroff enzyme - GDH - Zwischenferment - zwischenferment - glucose-6-phosphate dehydrogenase activity + + + The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. + cell-division cycle + cell cycle - + - - - Catalysis of the reaction: D-glucose 6-phosphate = D-fructose 6-phosphate. - hexose monophosphate isomerase activity - hexosephosphate isomerase activity - phosphohexoisomerase activity - phosphohexomutase activity - phosphohexose isomerase activity - phosphosaccharomutase activity - D-glucose-6-phosphate aldose-ketose-isomerase activity - D-glucose-6-phosphate ketol-isomerase activity - glucose phosphate isomerase activity - hexose phosphate isomerase activity - phosphoglucoisomerase activity - phosphoglucose isomerase activity - oxoisomerase activity - glucose-6-phosphate isomerase activity + + + The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. In eukaryotes, chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. + chromosome division + chromosome transmission + chromosome segregation - + - - - Catalysis of the reaction: L-glutamate = 4-aminobutanoate + CO2. - aspartic alpha-decarboxylase - L-aspartate-alpha-decarboxylase activity - L-glutamate 1-carboxy-lyase (4-aminobutanoate-forming) - L-glutamate 1-carboxy-lyase activity - L-glutamate alpha-decarboxylase activity - L-glutamic acid decarboxylase activity - L-glutamic decarboxylase activity - cysteic acid decarboxylase activity - gamma-glutamate decarboxylase activity - glutamate decarboxylase activity + + + + + + + + + + + + + + + + + + + + + The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells. + mitotic chromosome condensation - + - - - Catalysis of the reaction: L-cysteine + L-glutamate + ATP = L-gamma-glutamyl-L-cysteine + ADP + 2 H(+) + phosphate. - L-glutamate:L-cysteine gamma-ligase (ADP-forming) activity - gamma-glutamyl-L-cysteine synthetase activity - gamma-glutamylcysteine synthetase activity - gamma-glutamylcysteinyl synthetase activity - glutamate-cysteine ligase activity + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of mitosis. + regulation of mitosis + regulation of mitotic nuclear division - + - - + + + A mitotic cell cycle in which chromosomes are replicated and sister chromatids separate, but spindle formation, nuclear membrane breakdown and nuclear division do not occur, resulting in an increased number of chromosomes in the cell. + endomitosis + endomitotic cell cycle + + + + + + + + + + The second nuclear division of meiosis, in which the two chromatids in each chromosome are separated, resulting in four daughter nuclei from the two nuclei produced in meiosis II. + meiosis II nuclear division + meiosis II + + + + + + + + + + + + + + + + + + + + + + + + - + - Catalysis of the reaction: L-gamma-glutamyl-L-cysteine + ATP + glycine = ADP + glutathione + 2 H(+) + phosphate. - GSH synthetase activity - gamma-L-glutamyl-L-cysteine:glycine ligase (ADP-forming) - glutathione synthetase activity - glutathione synthase activity + A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. + male nuclear division + male meiosis + male meiotic nuclear division - + - - - Catalysis of the random hydrolysis of (1->4) linkages between N-acetyl-beta-D-glucosamine and D-glucuronate residues in hyaluronate. - chondroitinase activity - hyaluronidase activity - chondroitinase I activity - hyaluronate 4-glycanohydrolase activity - hyaluronoglucosaminidase activity - hyaluronoglucosidase activity - hyalurononglucosaminidase activity + + + + + + + + + + + + + + + + + + + A cell cycle process comprising the steps by which a cell progresses through male meiosis II, the second meiotic division in the male germline. + male meiosis II nuclear division + male meiosis II - + - - - Catalysis of the hydrolysis of the 2-sulfate groups of the L-iduronate 2-sulfate units of dermatan sulfate, heparan sulfate and heparin. - chondroitinsulfatase - 2-sulfo-L-iduronate 2-sulfatase activity - L-iduronate 2-sulfate sulfatase activity - L-iduronate-2-sulfate 2-sulfohydrolase activity - L-idurono sulfate sulfatase activity - L-iduronosulfatase activity - iduronate sulfatase activity - iduronate sulfate sulfatase activity - iduronate-2-sulfate sulfatase activity - iduronate-2-sulphatase activity - iduronide-2-sulfate sulfatase activity - idurono-2-sulfatase activity - sulfo-L-iduronate sulfatase activity - sulfoiduronate sulfohydrolase activity - iduronate-2-sulfatase activity + + + Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. + cell communication - + - - - Catalysis of the reaction: lactate + NAD+ = H+ + NADH + pyruvate. - lactate dehydrogenase activity + + + The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. + cell adhesion molecule activity + single organism cell adhesion + cell adhesion - + - - - Catalysis of the reaction: acyl-CoA + ETF = 2,3-dehydroacyl-CoA + reduced ETF. - long-chain acyl-coenzyme A dehydrogenase activity - long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase activity - long-chain-acyl-CoA:acceptor 2,3-oxidoreductase activity - palmitoyl-CoA dehydrogenase activity - palmitoyl-coenzyme A dehydrogenase activity - long-chain-acyl-CoA dehydrogenase activity + + + The attachment of a leukocyte to another cell via adhesion molecules. + leukocyte adhesion + leukocyte cell adhesion + leukocyte cell-cell adhesion - + - - - Catalysis of the reaction: 3-methylbut-2-enoyl-CoA + ATP + bicarbonate = trans-3-methylglutaconyl-CoA + ADP + 2 H(+) + phosphate. - 3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming) - MCCC activity - beta-methylcrotonyl CoA carboxylase activity - beta-methylcrotonyl coenzyme A carboxylase activity - beta-methylcrotonyl-CoA carboxylase activity - methylcrotonyl coenzyme A carboxylase activity - methylcrotonyl-CoA carboxylase activity - methylcrotonoyl-CoA carboxylase activity + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. + down regulation of cell adhesion + down-regulation of cell adhesion + downregulation of cell adhesion + inhibition of cell adhesion + cell adhesion receptor inhibitor activity + negative regulation of cell adhesion - + - - - Catalysis of the incorporation of one atom from molecular oxygen into a compound and the reduction of the other atom of oxygen to water. - hydroxylase activity - monooxygenase activity + + + + + + + + + + + + + + + + + + + + + + The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. + signaling cascade + signalling cascade + signaling pathway + signalling pathway + signal transduction - + - - - - Catalysis of the reaction: a steroid + donor-H2 + O2 = a 21-hydroxysteroid + acceptor + H2O. - 21-hydroxylase activity - steroid 21-hydroxylase activity - steroid,hydrogen-donor:oxygen oxidoreductase (21-hydroxylating) - cytochrome P450 CYP21A1 - cytochrome p450 XXIA1 activity - steroid 21-monooxygenase activity + + + A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. + cell surface receptor linked signal transduction + cell surface receptor linked signaling pathway + cell surface receptor linked signalling pathway + cell surface receptor signaling pathway - + - - - Catalysis of the hydrolysis of any O-glycosyl bond. - O-glucosyl hydrolase activity - hydrolase activity, hydrolyzing O-glycosyl compounds + + + + + + + + + A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. + glutamate signaling pathway + glutamate signalling pathway + glutamate receptor signaling pathway - + - - - Catalysis of the hydrolysis of terminal, non-reducing beta-D-galactose residues in beta-D-galactosides. - beta-D-galactanase activity - beta-D-galactoside galactohydrolase activity - beta-D-lactosidase activity - beta-lactosidase activity - exo-(1->4)-beta-D-galactanase activity - trilactase activity - S 2107 - hydrolact - lactose hydrolysis - lactozym - maxilact - oryzatym - sumiklat - beta-galactosidase activity + + + + + + + + + The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. + NF-kappaB cascade + I-kappaB kinase/NF-kappaB signal transduction + canonical NF-kappaB signaling cascade + I-kappaB kinase/NF-kappaB cascade + activation of the inhibitor of kappa kinase + p50-dependent NF-kappaB signaling + I-kappaB kinase/NF-kappaB signaling + + + + + + + + + Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. + small GTPase-mediated signal transduction + small GTPase mediated signal transduction + + + + + + + + + A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. + Ras mediated signal transduction + Ras protein signal transduction - + - - - Catalysis of the reaction: a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate. - beta-D-glucuronoside glucuronosohydrolase activity - beta-glucuronide glucuronohydrolase activity - exo-beta-D-glucuronidase activity - glucuronidase activity - ketodase activity - beta-glucuronidase activity + + + + Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. + cell-cell signalling + cell-cell signaling - + - - - - Catalysis of the reaction: donor + hydrogen peroxide = oxidized donor + 2 H2O. - donor:hydrogen-peroxide oxidoreductase activity - oxyperoxidase activity - peroxidase reaction - bacterial catalase-peroxidase activity - eosinophil peroxidase activity - extensin peroxidase - guaiacol peroxidase - heme peroxidase - horseradish peroxidase (HRP) - japanese radish peroxidase - lactoperoxidase activity - myeloperoxidase activity - protoheme peroxidase - pyrocatechol peroxidase - scopoletin peroxidase - secretory plant peroxidase activity - thiocyanate peroxidase - verdoperoxidase - MPO - peroxidase activity + + + The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. + signal transmission across a synapse + synaptic transmission + neurotransmission + chemical synaptic transmission - + - - - Catalysis of the reaction: 2 glutathione + hydrogen peroxide = oxidized glutathione + 2 H2O. - GSH peroxidase activity - glutathione:hydrogen-peroxide oxidoreductase activity - reduced glutathione peroxidase activity - selenium-glutathione peroxidase activity - non-selenium glutathione peroxidase activity - glutathione peroxidase activity + + + + + + + + + The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. + ionic insulation of neurons by glial cells + ensheathment of neurons - + - - - Catalysis of the reaction: alpha-D-glucose 1-phosphate = alpha-D-glucose 6-phosphate. - alpha-D-glucose 1,6-phosphomutase activity - glucose phosphomutase activity - phosphoglucose mutase activity - phosphoglucomutase activity + + + The process of synaptic transmission from a neuron to a muscle, across a synapse. + neuromuscular synaptic transmission - + - - - - Catalysis of the reaction: 3-phospho-D-glycerate + ATP = 3-phospho-D-glyceroyl phosphate + ADP + H(+). - 3-phosphoglycerate kinase activity - 3-phosphoglycerate phosphokinase activity - 3-phosphoglyceric acid kinase activity - 3-phosphoglyceric acid phosphokinase activity - 3-phosphoglyceric kinase activity - ATP-3-phospho-D-glycerate-1-phosphotransferase activity - ATP:3-phospho-D-glycerate 1-phosphotransferase activity - ATP:D-3-phosphoglycerate 1-phosphotransferase activity - glycerate 3-phosphate kinase activity - glycerophosphate kinase activity - phosphoglyceric acid kinase activity - phosphoglyceric kinase activity - phosphoglycerokinase activity - 3-PGK - PGK - phosphoglycerate kinase activity + + + + The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). + multicellular organism development - + - - - Catalysis of the reaction: 2-phospho-D-glycerate = 3-phospho-D-glycerate. - D-phosphoglycerate 2,3-phosphomutase activity - PGA mutase activity - PGAM activity - PGM - monophosphoglycerate mutase activity - monophosphoglyceromutase activity - phosphoglycerate phosphomutase activity - phosphoglyceromutase activity - GriP mutase - MPGM - bisphosphoglyceromutase - diphosphoglycomutase - phosphoglycerate mutase activity + + + + + + + + + The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. + gametogenesis + gamete generation - + - - - Catalysis of the reaction: 2-phospho-D-glycerate = phosphoenolpyruvate + H2O. - 2-phospho-D-glycerate hydro-lyase (phosphoenolpyruvate-forming) - 2-phospho-D-glycerate hydro-lyase activity - 2-phospho-D-glycerate-hydrolase activity - 2-phosphoglycerate dehydratase activity - 2-phosphoglycerate enolase activity - 2-phosphoglyceric dehydratase activity - enolase activity - gamma-enolase activity - phosphoenolpyruvate hydratase activity - nervous-system specific enolase - 14-3-2-protein - phosphopyruvate hydratase activity + + + + + + + + + + + The process whose specific outcome is the progression of an immature germ cell over time, from its formation to the mature structure (gamete). A germ cell is any reproductive cell in a multicellular organism. + germ-cell development + primordial germ cell development + germ cell development - + - - - Catalysis of the reaction: a 2-oxo acid = an aldehyde + CO2. - 2-oxo-acid carboxy-lyase (aldehyde-forming) - 2-oxo-acid carboxy-lyase activity - alpha-carboxylase activity - alpha-ketoacid carboxylase activity - pyruvic decarboxylase activity - pyruvate decarboxylase activity + + + The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis. + generation of spermatozoa + spermatogenesis - + - - + + - + - Catalysis of the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. - ATP:pyruvate 2-O-phosphotransferase activity - phosphoenol transphosphorylase activity - phosphoenolpyruvate kinase activity - pyruvate kinase activity + The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure. + spermatid cell development + spermiogenesis + spermatid development - + - - - Catalysis of the reaction: D-ribose 5-phosphate + ATP = 5-phospho-alpha-D-ribose 1-diphosphate + AMP + 2 H(+). - 5-phosphoribose pyrophosphorylase activity - 5-phosphoribosyl-1-pyrophosphate synthetase activity - 5-phosphoribosyl-alpha-1-pyrophosphate synthetase activity - ATP:D-ribose-5-phosphate diphosphotransferase activity - PP-ribose P synthetase activity - PPRibP synthetase activity - PRPP synthetase activity - phosphoribosyl diphosphate synthetase activity - phosphoribosyl pyrophosphate synthetase activity - phosphoribosyl-diphosphate synthetase activity - phosphoribosylpyrophosphate synthase activity - phosphoribosylpyrophosphate synthetase activity - pyrophosphoribosylphosphate synthetase activity - ribophosphate pyrophosphokinase activity - ribose-5-phosphate pyrophosphokinase activity - ribose-phosphate diphosphokinase activity - ribose-phosphate pyrophosphokinase activity - ribose phosphate diphosphokinase activity + + + + + + + + + + + + + + + + + The assembly and organization of the sperm flagellar axoneme, the bundle of microtubules and associated proteins that forms the core of the eukaryotic sperm flagellum, and is responsible for movement. + sperm axoneme assembly - + - - - Catalysis of the reaction: D-glyceraldehyde 3-phosphate = glycerone phosphate. - D-glyceraldehyde-3-phosphate aldose-ketose-isomerase activity - D-glyceraldehyde-3-phosphate ketol-isomerase activity - phosphotriose isomerase activity - triose phosphate mutase activity - triose phosphoisomerase activity - triosephosphate isomerase activity - triosephosphate mutase activity - triose-phosphate isomerase activity + + + + + + + + + + The specialization of the spermatid nucleus during the development of a spermatid into a mature male gamete competent for fertilization. + spermatid nuclear differentiation + spermatid nucleus differentiation - + - + - + - - + + - + + + + + + + + Any process that modulates the rate or extent of progress through the mitotic cell cycle. + mitotic cell cycle modulation + mitotic cell cycle regulation + modulation of mitotic cell cycle progression + regulation of mitotic cell cycle progression + regulation of progression through mitotic cell cycle + mitotic cell cycle regulator + regulation of mitotic cell cycle + + + + + + + + + The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. + pan-neural process + nervous system development + + + + + + + + - + - Conveys a signal across a cell to trigger a change in cell function or state. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. - hematopoietin/interferon-class (D200-domain) cytokine receptor signal transducer activity - quorum sensing response regulator activity - quorum sensing signal generator activity - signal transducer activity + The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. + CNS development + central nervous system development - + - - + + - + - - + + - Combining with any component or product of the complement cascade and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. - anaphylatoxin receptor activity - complement receptor activity + The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). + brain development - + - - - - + + + The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. + sense organ development + sensory organ development + + + + + + + + + The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. + mesoderm development + + + + + + + + - + - Combining with a signal and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription by RNA polymerase II. - RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding - ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity - nuclear hormone receptor - ligand-dependent nuclear receptor activity - ligand-dependent transcription factor activity - nuclear receptor activity - nuclear receptor activity + A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm. + ectoderm/mesoderm interaction + ectoderm and mesoderm interaction - + - - - + + - - - - - - - + - Combining with an androgen and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with an androgen response element in DNA in order to modulate transcription by RNA polymerase II. - androgen response element binding - androgen receptor activity + The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. + dorsal vessel development + cardiac development + heart development - + - - - - - - - - - - Combining with thyroid hormone and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription by RNA polymerase II. - thyroid hormone receptor activity + + + + The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. + muscle organ development - + - - - Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction. - transmembrane receptor activity - transmembrane signalling receptor activity - transmembrane signaling receptor activity + + + The establishment of the sex of an organism by physical differentiation. + sex differentiation - + - - + + + + The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. + gestation + carrying of young + female pregnancy + + + + + + + + - + - - + + - Combining with a cytokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. - IL receptor - interleukin receptor activity - hematopoietin/interferon-class (D200-domain) cytokine receptor activity - cytokine receptor activity + Attachment of the blastocyst to the uterine lining. + blastocyst implantation + embryo implantation - + - - - + + + A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). + ageing + aging + + + + + + + + + + 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 nutrient stimulus. + response to nutrients + nutritional response pathway + response to nutrient + + + + + + + + + The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. + breathing + respiration + respiratory gaseous exchange + + + + + + + + + The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. + digestion + + + + + + + + + The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. + excretion + + + + + + + + + + The controlled release of a fluid by a cell or tissue in an animal. + body fluid secretion + + + + + + + + - + - Catalysis of the transmembrane transfer of an ion by a channel that opens when glutamate has been bound by the channel complex or one of its constituent parts. - ionotropic glutamate receptor activity + + + + + + + The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. + milk secretion + lactation - + - - - - - An cation channel that opens in response to binding by extracellular glutmate, but only if glycine is also bound and the membrane is depolarized. Voltage gating is indirect, due to ejection of bound magnesium from the pore at permissive voltages. - N-methyl-D-aspartate selective glutamate receptor activity - NMDA receptor - NMDA glutamate receptor activity + + + + + + + + + + The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. + blood clotting + blood coagulation - + - - - Interacting selectively and non-covalently with one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. - receptor binding - receptor ligand - receptor-associated protein activity - signaling receptor binding + + + The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. + hemostasis - + - - - Functions to control the survival, growth, differentiation and effector function of tissues and cells. - autocrine activity - paracrine activity - cytokine activity + + + The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. + sensory perception - + - - - The action characteristic of a hormone, any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. The term was originally applied to agents with a stimulatory physiological action in vertebrate animals (as opposed to a chalone, which has a depressant action). Usage is now extended to regulatory compounds in lower animals and plants, and to synthetic substances having comparable effects; all bind receptors and trigger some biological process. - cAMP generating peptide activity - glycopeptide hormone - lipopeptide hormone - peptide hormone - hormone activity + + + The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. + sense of sight + sensory visual perception + vision + visual perception - + - - - The action characteristic of gonadotropin hormone-releasing hormone (GnRH), any of a family of decapeptide amide hormones that are released by the hypothalamus in response to neural and/or chemical stimuli. In at least mammals, upon receptor binding, GnRH causes the release of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) by the anterior pituitary. - GnRH activity - LH/FSH-RF - LHRH activity - gonadotrophin hormone-releasing hormone activity - luteinizing hormone-releasing factor activity - luteinizing hormone-releasing hormone activity - luteinizing hormone/follicle-stimulating hormone releasing factor activity - gonadotropin hormone-releasing hormone activity + + + The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. + hearing + perception of sound + sensory perception of sound - + - - - Enables the directed movement of substances (such as macromolecules, small molecules, ions) into, out of or within a cell, or between cells. - carrier - transporter activity + + + + The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. + behavioral response to stimulus + behaviour + behavioural response to stimulus + single-organism behavior + behavior - + - - - - - Enables the facilitated diffusion of an ion (by an energy-independent process) by passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. May be either selective (it enables passage of a specific ion only) or non-selective (it enables passage of two or more ions of same charge but different size). - ion channel activity + + + + The acquisition and processing of information and/or the storage and retrieval of this information over time. + learning or memory - + - - - Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts. - extracellular ligand-gated ion channel activity + + + The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). + memory - + - + - + - + - - + - + - Enables the transmembrane transfer of an ion by a channel that opens when a specific extracellular ligand has been bound by the channel complex or one of its constituent parts, where channel opening contributes to an increase in membrane potential. - excitatory extracellular ligand-gated ion channel activity - - - - - - - - - A wide pore channel activity that enables a direct cytoplasmic connection from one cell to an adjacent cell. The gap junction can pass large solutes as well as electrical signals between cells. Gap junctions consist of two gap junction hemi-channels, or connexons, one contributed by each membrane through which the gap junction passes. - intercellular channel - innexin channel activity - innexin - connexin - gap junction channel activity + The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. + mating behaviour + mating behavior - + - - - - Enables the transmembrane transfer of an ion by a voltage-gated channel. An ion is an atom or group of atoms carrying an electric charge by virtue of having gained or lost one or more electrons. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. - voltage gated ion channel activity - voltage-dependent ion channel activity - voltage-gated ion channel activity + + + + + + + + + The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. + mating - + - - - - Enables the energy-independent passage of cations across a lipid bilayer down a concentration gradient. - cation diffusion facilitator activity - non-selective cation channel activity - cation channel activity + + + The act of sexual union between male and female, involving the transfer of sperm. + copulation - + - - - - Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. - calcium channel activity + + + + The specific behavior of an organism that recur with measured regularity. + rhythmic behavioral response to stimulus + rhythmic behaviour + rhythmic behavioural response to stimulus + rhythmic behavior - + - - - The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule. - ligand - binding + + + Any biological process in an organism that recurs with a regularity of approximately 24 hours. + circadian process + circadian response + response to circadian rhythm + circadian rhythm - + - - - - Interacting selectively and non-covalently with a steroid, any of a large group of substances that have in common a ring system based on 1,2-cyclopentanoperhydrophenanthrene. - steroid binding + + + Behavior associated with the intake of food. + behavioral response to food + behavioural response to food + feeding behaviour + drinking + eating + feeding behavior - + - - - Interacting selectively and non-covalently with any androgen, male sex hormones. - androgen binding + + + + + The behavior of an organism in response to a visual stimulus. + behavioral response to visual stimulus + behavioural response to visual stimulus + visual behaviour + visual behavior - + - - - - Interacting selectively and non-covalently with vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). - calciferol binding - cholecalciferol binding - ergocalciferol binding - vitamin D binding + + + The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. + hemolymph circulation + blood circulation - + - - - Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). - protein amino acid binding - glycoprotein binding - protein binding + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. + regulation of cardiac contraction + regulation of heart contraction - + - - - Interacting selectively and non-covalently with collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). - collagen binding + + + + + + + + + Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. + glutamate receptor activity - + - - The part of a cell, extracellular environment or virus in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together. - cell or subcellular entity - cellular component - subcellular entity - cellular_component + + + + Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule. + N-acetyltransferase activity - + - - - The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. - extracellular - extracellular region + + + Any process in which a protein is transported to, or maintained in, a specific location. + protein localisation + asymmetric protein localisation + asymmetric protein localization + establishment and maintenance of asymmetric protein localization + establishment and maintenance of protein localization + protein localization - + - - - A layer consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that forms a sheet underlying or overlying cells such as endothelial and epithelial cells. The proteins are secreted by cells in the vicinity. An example of this component is found in Mus musculus. - proteinaceous extracellular matrix + + + Interacting selectively and non-covalently with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease. + drug binding - + - - - - - - - - - - A protein complex produced by sequentially activated components of the complement cascade inserted into a target cell membrane and forming a pore leading to cell lysis via ion and water flow. - MAC - TCC - terminal complement complex - membrane attack complex protein alphaM chain - membrane attack complex protein beta2 chain - membrane attack complex + + Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end. + biological process + physiological process + single organism process + single-organism process + biological_process - + - - - A protein complex consisting of three collagen chains assembled into a left-handed triple helix. These trimers typically assemble into higher order structures. - collagen trimer + + + The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. + metabolism + metabolic process resulting in cell growth + metabolism resulting in cell growth + multicellular organism metabolic process + single-organism metabolic process + metabolic process - + - - - - - - - - - - - - - - - - - - - - - - Any triple helical collagen trimer that forms fibrils. - fibrillar collagen trimer + + + + The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. + steroid metabolism + steroid metabolic process - + - - - A collagen homotrimer of alpha1(II) chains; type II collagen triple helices associate to form fibrils. - collagen type II trimer + + + + The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. + cholesterol metabolism + cholesterol metabolic process - + - - - A collagen heterotrimer containing type XI alpha chains in alpha1(XI)alpha2(XI)alpha3(XI) trimers; type XI collagen triple helices associate to form fibrils. - collagen type XI trimer + + + + + The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. + bile acid metabolism + bile acid metabolic process - + - - - A collagen trimer that associates with collagen fibrils and consists of collagen monomers that contain two or more relatively short triple-helical domains connected by non-triple-helical sequences. - FACIT collagen trimer + + + + The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. + glucocorticoid metabolism + glucocorticosteroid metabolic process + glucocorticosteroid metabolism + glucocorticoid metabolic process - + - - - A collagen heterotrimer containing type IX alpha chains in alpha1(IX)alpha2(IX)alpha3(IX) trimers; type IX collagen triple helices associate to form a structure that links glycosaminoglycans to type II collagen fibrils. - collagen type IX trimer + + + Any biological process that results in permanent cessation of all vital functions of a cell. A cell should be considered dead when any one of the following molecular or morphological criteria is met: (1) the cell has lost the integrity of its plasma membrane; (2) the cell, including its nucleus, has undergone complete fragmentation into discrete bodies (frequently referred to as apoptotic bodies). The cell corpse (or its fragments) may be engulfed by an adjacent cell in vivo, but engulfment of whole cells should not be considered a strict criteria to define cell death as, under some circumstances, live engulfed cells can be released from phagosomes (see PMID:18045538). + accidental cell death + necrosis + cell death - + - - + + - + - A thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. - basement membrane - - - - - - - - - The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. - internal to cell - protoplasm - nucleocytoplasm - protoplast - intracellular - - - - - - - - - The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope. - cell - - - - - - - - - A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. - cell nucleus - horsetail nucleus - nucleus + The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody. + opsonization - + - - + + + - + - The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. - nuclear lamina + Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. + hydrolase, acting on peptide bonds + peptide hydrolase activity + protease activity + proteinase activity + peptidase activity - + - - - A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. - interphase chromosome - prophase chromosome - chromatid - chromosome + + + + Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). + serine protease activity + serine-type peptidase activity - + - - - All of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. - cytoplasm + + + Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both. + exoprotease activity + exopeptidase activity - + - - - - A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. - mitochondria - mitochondrion + + + + Catalysis of the release of an N-terminal tripeptide from a polypeptide. + tripeptidyl-peptidase activity - + - - - - The double lipid bilayer enclosing the mitochondrion and separating its contents from the cell cytoplasm; includes the intermembrane space. - mitochondrial envelope + + + Catalysis of the removal of terminal peptide residues that are substituted, cyclized or linked by isopeptide bonds (peptide linkages other than those of alpha-carboxyl to alpha-amino groups). + peptidase activity, acting on peptides containing modified amino acids + omega peptidase activity - + - - - - The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. - inner mitochondrial membrane - mitochondrial inner membrane + + + The multiplication or reproduction of cells, resulting in the expansion of a cell population. + cell proliferation - + - + - + - - + + - - + + - - + + - The protein complexes that form the mitochondrial electron transport system (the respiratory chain), associated with the inner mitochondrial membrane. The respiratory chain complexes transfer electrons from an electron donor to an electron acceptor and are associated with a proton pump to create a transmembrane electrochemical gradient. - mitochondrial electron transport chain - mitochondrial respiratory chain + Any process that activates or increases the rate or extent of cell proliferation. + up regulation of cell proliferation + up-regulation of cell proliferation + upregulation of cell proliferation + activation of cell proliferation + stimulation of cell proliferation + positive regulation of cell proliferation - + - + - + - - + + - - - + + - - + + - A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. - mitochondrial respiratory chain complex I + Any process that stops, prevents or reduces the rate or extent of cell proliferation. + down regulation of cell proliferation + down-regulation of cell proliferation + downregulation of cell proliferation + inhibition of cell proliferation + negative regulation of cell proliferation - + - - - - - - - - - - - - - - + + + Interacting selectively and non-covalently with a lipid. + lipid binding + + + + + + + + + The activity of binding selectively and non-covalently to and distorting the original structure of DNA, typically a straight helix, into a bend, or increasing the bend if the original structure was intrinsically bent due to its sequence. + DNA bending activity + DNA bending involving DNA binding + DNA binding, bending + + + + + + + + - + - A protein complex located in the mitochondrial inner membrane that forms part of the mitochondrial respiratory chain. Contains about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. - mitochondrial coenzyme Q-cytochrome c oxidoreductase complex - mitochondrial coenzyme Q-cytochrome c reductase complex - mitochondrial complex III - mitochondrial cytochrome bc(1) complex - mitochondrial cytochrome bc1 complex - mitochondrial ubiquinol-cytochrome c oxidoreductase complex - mitochondrial ubiquinol-cytochrome-c reductase complex - mitochondrial electron transport complex III - mitochondrial respiratory chain complex III + Enables the transfer of cation from one side of a membrane to the other. + transmembrane cation transporter activity + cation transmembrane transporter activity - + - + - + - - + + - - - A proton-transporting ATP synthase complex found in the mitochondrial membrane. - mitochondrial respiratory chain complex V - mitochondrial proton-transporting ATP synthase complex + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate, or extent of an antimicrobial humoral response. + attenuation of antimicrobial humoral response + down regulation of antimicrobial humoral response + down-regulation of antimicrobial humoral response + downregulation of antimicrobial humoral response + inhibition of antimicrobial humoral response + negative regulation of antimicrobial humoral response - + - - - - The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. - mitochondrial lumen - mitochondrial stroma - mitochondrial matrix + + + Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. + cellular axon ensheathment + cellular nerve ensheathment + nerve ensheathment + axon ensheathment - + - - - A small lytic vacuole that has cell cycle-independent morphology and is found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. - lysosome + + + + + + + + + Catalysis of the transfer of sialic acid to an acceptor molecule, typically the terminal portions of the sialylated glycolipids (gangliosides) or to the N- or O-linked sugar chains of glycoproteins. + sialyltransferase activity - + - - - - A closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. Cells contain one or several vacuoles, that may have different functions from each other. Vacuoles have a diverse array of functions. They can act as a storage organelle for nutrients or waste products, as a degradative compartment, as a cost-effective way of increasing cell size, and as a homeostatic regulator controlling both turgor pressure and pH of the cytosol. - vacuolar carboxypeptidase Y - vacuole + + + Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. + O-acyltransferase activity - + - - - - - - - - - - - - - - - The volume enclosed within the vacuolar membrane. - vacuolar lumen + + + The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. + pre-mRNA splicing factor activity + RNA splicing - + - - - A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. - peroxisome vesicle - peroxisomal - peroxisome + + + Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. + cytochrome P450 CYP2G1 + olfactory-specific steroid hydroxylase activity + steroid hydroxylase activity - + - - - + + + - + - A compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. The Golgi apparatus differs from the endoplasmic reticulum in often having slightly thicker membranes, appearing in sections as a characteristic shallow semicircle so that the convex side (cis or entry face) abuts the endoplasmic reticulum, secretory vesicles emerging from the concave side (trans or exit face). In vertebrate cells there is usually one such organelle, while in invertebrates and plants, where they are known usually as dictyosomes, there may be several scattered in the cytoplasm. The Golgi apparatus processes proteins produced on the ribosomes of the rough endoplasmic reticulum; such processing includes modification of the core oligosaccharides of glycoproteins, and the sorting and packaging of proteins for transport to a variety of cellular locations. Three different regions of the Golgi are now recognized both in terms of structure and function: cis, in the vicinity of the cis face, trans, in the vicinity of the trans face, and medial, lying between the cis and trans regions. - Golgi - Golgi complex - Golgi ribbon - Golgi apparatus - - - - - - - - - The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. - cytosol + + + + + + + Combining with calcitriol, the hormonally active form of vitamin D3, and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription by RNA polymerase II. + vitamin D receptor activity + 1,25-(OH)2D3 receptor activity + 1,25-dihydroxycholecalciferol receptor activity + 1,25-dihydroxyvitamin D3 receptor activity + 1alpha,25(OH)2D3 receptor activity + 1alpha,25-dihydroxyvitamin D3 receptor activity + vitamin D3 receptor activity + calcitriol receptor activity - + - - - - - - - - - - The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. - juxtamembrane - cell membrane - cellular membrane - cytoplasmic membrane - plasmalemma - bacterial inner membrane - inner endospore membrane - plasma membrane lipid bilayer - plasma membrane + + + + Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule. + phosphofructokinase activity - + - - - - - - - - - - - - - - - The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. - integral to plasma membrane - integral component of plasma membrane + + + Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. + sulfite:oxygen oxidoreductase activity + sulphite oxidase activity + sulfite oxidase activity - + - - - A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm. - caveolae - caveolar membrane - caveola + + + Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. + aminotransferase activity + transaminase activity - + - - - A cell junction that forms a connection between two or more cells in a multicellular organism; excludes direct cytoplasmic junctions such as ring canals. - intercellular junction - cell-cell junction + + + Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2. + sulfatase activity + sulphuric ester hydrolase activity + sulfuric ester hydrolase activity - + - - - + + - - + + - A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. - eukaryotic flagellum - microtubule-based flagellum - primary cilium - flagellum - cilium + Enables the transfer of a negatively charged ion from one side of a membrane to the other. + anion transporter activity + anion transmembrane transporter activity - + - - - - - - - - - - - - - - + + - + - Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA in eukaryotes; includes subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). The This Eukaryotic form usually contains more subunits than its bacterial counterpart; for example, one known complex contains 30 E1 dimers, 60 E2 monomers, and 6 E3 dimers as well as a few copies of pyruvate dehydrogenase kinase and pyruvate dehydrogenase phosphatase. - pyruvate dehydrogenase complex (lipoamide) - mitochondrial pyruvate dehydrogenase complex + Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. + organic anion transmembrane transporter activity - + - - - - The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. Includes the formation of carbohydrate derivatives by the addition of a carbohydrate residue to another molecule. - carbohydrate metabolism - multicellular organismal carbohydrate metabolic process - single-organism carbohydrate metabolic process - carbohydrate metabolic process + + + + The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. + lipid anabolism + lipid biosynthesis + lipid formation + lipid synthesis + lipogenesis + lipid biosynthetic process - + - - - - The chemical reactions and pathways involving a polysaccharide, a polymer of many (typically more than 10) monosaccharide residues linked glycosidically. - polysaccharide metabolism - glycan metabolic process - glycan metabolism - multicellular organismal polysaccharide metabolic process - polysaccharide metabolic process + + + + + The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. + ether lipid anabolism + ether lipid biosynthesis + ether lipid formation + ether lipid synthesis + plasmalogen biosynthetic process + ether lipid biosynthetic process - + - - - - The chemical reactions and pathways involving glycogen, a polydisperse, highly branched glucan composed of chains of D-glucose residues in alpha-(1->4) glycosidic linkage, joined together by alpha-(1->6) glycosidic linkages. - glycogen metabolism - glycogen metabolic process + + + + + + The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate. + pyridoxine metabolism + pyridoxine metabolic process - + - - - - The chemical reactions and pathways involving monosaccharides, the simplest carbohydrates. They are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. - monosaccharide metabolism - monosaccharide metabolic process + + + The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. + sugar transport + carbohydrate transport - + + + + + The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. + high-affinity hexose transport + low-affinity hexose transport + hexose membrane transport + hexose transport + hexose transmembrane transport + + + + + - - - The chemical reactions and pathways involving fructose, the ketohexose arabino-2-hexulose. Fructose exists in a open chain form or as a ring compound. D-fructose is the sweetest of the sugars and is found free in a large number of fruits and honey. - fructose metabolism - fructose metabolic process + + + + + The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. + amino acid biosynthetic process + cellular amino acid anabolism + cellular amino acid biosynthesis + cellular amino acid formation + cellular amino acid synthesis + cellular amino acid biosynthetic process - + - - - The chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. D-glucose is dextrorotatory and is sometimes known as dextrose; it is an important source of energy for living organisms and is found free as well as combined in homo- and hetero-oligosaccharides and polysaccharides. - cellular glucose metabolic process - glucose metabolism - glucose metabolic process + + + + + + The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. + phospholipid anabolism + phospholipid biosynthesis + phospholipid formation + phospholipid synthesis + phospholipid biosynthetic process - + - - - The chemical reactions and pathways involving galactose, the aldohexose galacto-hexose. D-galactose is widely distributed in combined form in plants, animals and microorganisms as a constituent of oligo- and polysaccharides; it also occurs in galactolipids and as its glucoside in lactose and melibiose. - galactose metabolism - galactose metabolic process + + + The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. + breakdown + catabolism + degradation + multicellular organismal catabolic process + single-organism catabolic process + catabolic process - + - + - - - The chemical reactions and pathways involving aminoglycans, any polymer containing amino groups that consists of more than about 10 monosaccharide residues joined to each other by glycosidic linkages. - aminoglycan metabolism - aminoglycan metabolic process + + The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + biopolymer catabolic process + macromolecule breakdown + macromolecule catabolism + macromolecule degradation + multicellular organismal macromolecule catabolic process + macromolecule catabolic process - + - - - - The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom. - alcohol metabolism - alcohol metabolic process + + + The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. + formation + anabolism + biosynthesis + synthesis + multicellular organismal biosynthetic process + single-organism biosynthetic process + biosynthetic process - + - - - The chemical reactions and pathways involving glycerol, 1,2,3-propanetriol, a sweet, hygroscopic, viscous liquid, widely distributed in nature as a constituent of many lipids. - glycerol metabolism - glycerol metabolic process + + + + The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + biopolymer biosynthetic process + macromolecule anabolism + macromolecule biosynthesis + macromolecule formation + macromolecule synthesis + macromolecule biosynthetic process - + - - - - The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues, occurring at the level of an individual cell. - cellular glucan metabolism - cellular glucan metabolic process + + + The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. + aerobic respiration - + - - - - - The chemical reactions and pathways involving organic acids, any acidic compound containing carbon in covalent linkage. - organic acid metabolism - organic acid metabolic process + + + + + The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents. + amino acid catabolic process + cellular amino acid breakdown + cellular amino acid catabolism + cellular amino acid degradation + cellular amino acid catabolic process - + - - - The chemical reactions and pathways involving pyruvate, 2-oxopropanoate. - pyruvate metabolism - pyruvate dehydrogenase bypass - pyruvate metabolic process + + + The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. + glutamine family amino acid metabolism + glutamine family amino acid metabolic process - + - - - The chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and any process involved in the liberation of energy from these substances. - energy pathways - intermediary metabolism - metabolic energy generation - generation of precursor metabolites and energy + + + The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. + aspartate family amino acid metabolism + aspartate family amino acid metabolic process - + - - - - The formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. - glucose biosynthesis - glucose biosynthetic process - gluconeogenesis + + + The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. + serine family amino acid metabolism + serine family amino acid metabolic process - + - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - The chemical reactions and pathways resulting in the breakdown of a carbohydrate into pyruvate, with the concomitant production of a small amount of ATP and the reduction of NAD(P) to NAD(P)H. Glycolysis begins with the metabolism of a carbohydrate to generate products that can enter the pathway and ends with the production of pyruvate. Pyruvate may be converted to acetyl-coenzyme A, ethanol, lactate, or other small molecules. - Embden-Meyerhof pathway - Embden-Meyerhof-Parnas pathway - anaerobic glycolysis - glycolysis - modifed Embden-Meyerhof pathway - glycolytic process + + + + The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. + serine family amino acid anabolism + serine family amino acid biosynthesis + serine family amino acid formation + serine family amino acid synthesis + serine family amino acid biosynthetic process - + - - - - - - - - - - A nearly universal metabolic pathway in which the acetyl group of acetyl coenzyme A is effectively oxidized to two CO2 and four pairs of electrons are transferred to coenzymes. The acetyl group combines with oxaloacetate to form citrate, which undergoes successive transformations to isocitrate, 2-oxoglutarate, succinyl-CoA, succinate, fumarate, malate, and oxaloacetate again, thus completing the cycle. In eukaryotes the tricarboxylic acid is confined to the mitochondria. See also glyoxylate cycle. - Krebs cycle - TCA cycle - citric acid cycle - tricarboxylic acid cycle + + + + + The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). + aromatic amino acid family metabolism + aromatic amino acid family metabolic process - + - - - - The chemical reactions and pathways involving citrate, 2-hydroxy-1,2,3-propanetricarboyxlate. Citrate is widely distributed in nature and is an important intermediate in the TCA cycle and the glyoxylate cycle. - citrate metabolism - citrate metabolic process + + + + + + The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). + aromatic amino acid family breakdown + aromatic amino acid family catabolism + aromatic amino acid family degradation + aromatic amino acid family catabolic process - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving carbohydrates. - regulation of carbohydrate metabolism - regulation of carbohydrate metabolic process + + + The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. + branched chain family amino acid metabolism + branched-chain amino acid metabolic process - + - - - - - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of glycolysis. - regulation of glycolysis involved in cellular glucose homeostasis - regulation of glycolytic process + + + + + The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. + glycoprotein metabolism + glycoprotein metabolic process - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of gluconeogenesis, the formation of glucose from noncarbohydrate precursors, such as pyruvate, amino acids and glycerol. - regulation of glucose biosynthesis - regulation of glucose biosynthetic process - regulation of gluconeogenesis involved in cellular glucose homeostasis - regulation of gluconeogenesis + + + + + + The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. + glycoprotein anabolism + glycoprotein biosynthesis + glycoprotein formation + glycoprotein synthesis + glycoprotein biosynthetic process - + - - - The chemical reactions and pathways by which a cell derives energy from stored compounds such as fats or glycogen. - energy reserve metabolism - energy reserve metabolic process + + + + + + + The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. + lipoate metabolism + lipoic acid metabolic process + lipoic acid metabolism + lipoate metabolic process - + - - - - - - - - - - - The phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain. Oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis. - respiratory-chain phosphorylation - oxidative phosphorylation + + + + + + + + The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. + lipoate anabolism + lipoate biosynthesis + lipoate formation + lipoate synthesis + lipoic acid anabolism + lipoic acid biosynthesis + lipoic acid biosynthetic process + lipoic acid formation + lipoic acid synthesis + lipoate biosynthetic process - + - - - - - - - Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. - cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolic process - cellular nucleobase, nucleoside, nucleotide and nucleic acid metabolism - nucleobase, nucleoside, nucleotide and nucleic acid metabolism - nucleobase, nucleoside and nucleotide metabolic process - nucleobase, nucleoside, nucleotide and nucleic acid metabolic process - nucleobase-containing compound metabolic process + + + + The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. + coenzyme and prosthetic group biosynthesis + coenzyme and prosthetic group biosynthetic process + coenzyme anabolism + coenzyme biosynthesis + coenzyme formation + coenzyme synthesis + coenzyme biosynthetic process - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleotides. - regulation of nucleotide metabolism - regulation of nucleotide metabolic process + + + + + The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. + vitamin anabolism + vitamin biosynthesis + vitamin formation + vitamin synthesis + vitamin biosynthetic process - - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving purines. - regulation of purine base metabolic process - regulation of purine base metabolism - regulation of purine nucleobase metabolic process + + + + + + The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. + nucleobase metabolism + nucleobase metabolic process - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pyrimidine nucleobases. - regulation of pyrimidine base metabolic process - regulation of pyrimidine base metabolism - regulation of pyrimidine nucleobase metabolic process + + + The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). + nucleotide metabolism + nucleotide metabolic process - + - - - - The chemical reactions and pathways involving purine nucleobases, one of the two classes of nitrogen-containing ring compounds found in DNA and RNA, which include adenine and guanine. - purine base metabolic process - purine base metabolism - purine metabolic process - purine metabolism - purine nucleobase metabolic process + + + The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. + nucleoside monophosphate metabolism + nucleoside monophosphate metabolic process - + - - - - The chemical reactions and pathways involving a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. - purine nucleotide metabolism - purine metabolic process - purine metabolism - purine nucleotide metabolic process + + + + The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. + nucleoside monophosphate anabolism + nucleoside monophosphate biosynthesis + nucleoside monophosphate formation + nucleoside monophosphate synthesis + nucleoside monophosphate biosynthetic process - + - - - - - The chemical reactions and pathways resulting in the formation of a purine nucleotide, a compound consisting of nucleoside (a purine base linked to a deoxyribose or ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. - purine nucleotide anabolism - purine nucleotide biosynthesis - purine nucleotide formation - purine nucleotide synthesis - purine nucleotide biosynthetic process + + + The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. + purine nucleoside monophosphate metabolism + purine nucleoside monophosphate metabolic process - + - - - - The process of introducing a phosphate group into a nucleoside diphosphate to produce a nucleoside triphosphate. - nucleoside diphosphate phosphorylation + + + + The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. + purine nucleoside monophosphate anabolism + purine nucleoside monophosphate biosynthesis + purine nucleoside monophosphate formation + purine nucleoside monophosphate synthesis + purine nucleoside monophosphate biosynthetic process - + - - - - The chemical reactions and pathways involving pyrimidine nucleobases, 1,3-diazine, organic nitrogenous bases. - pyrimidine base metabolic process - pyrimidine base metabolism - pyrimidine metabolic process - pyrimidine metabolism - pyrimidine nucleobase metabolic process + + + The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. + nucleoside diphosphate metabolism + nucleoside diphosphate metabolic process - + - - - - Any cellular metabolic process involving deoxyribonucleic acid. This is one of the two main types of nucleic acid, consisting of a long, unbranched macromolecule formed from one, or more commonly, two, strands of linked deoxyribonucleotides. - DNA metabolism - cellular DNA metabolism - DNA metabolic process + + + The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. + purine nucleoside diphosphate metabolism + purine nucleoside diphosphate metabolic process - + - - - - The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. - DNA repair + + + The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. + nucleoside triphosphate metabolism + nucleoside triphosphate metabolic process - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of DNA repair. - regulation of DNA repair + + + + The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. + nucleoside triphosphate anabolism + nucleoside triphosphate biosynthesis + nucleoside triphosphate formation + nucleoside triphosphate synthesis + nucleoside triphosphate biosynthetic process - + - - - A DNA repair process in which a small region of the strand surrounding the damage is removed from the DNA helix as an oligonucleotide. The small gap left in the DNA helix is filled in by the sequential action of DNA polymerase and DNA ligase. Nucleotide excision repair recognizes a wide range of substrates, including damage caused by UV irradiation (pyrimidine dimers and 6-4 photoproducts) and chemicals (intrastrand cross-links and bulky adducts). - NER - pyrimidine-dimer repair, DNA damage excision - intrastrand cross-link repair - nucleotide-excision repair + + + The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. + purine nucleoside triphosphate metabolism + purine nucleoside triphosphate metabolic process - + - - - - - - - - - - The cellular synthesis of RNA on a template of DNA. - cellular transcription - transcription - DNA-dependent transcription - cellular transcription, DNA-dependent - transcription, DNA-dependent - transcription regulator activity - transcription, DNA-templated + + + + The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. + purine nucleoside triphosphate anabolism + purine nucleoside triphosphate biosynthesis + purine nucleoside triphosphate formation + purine nucleoside triphosphate synthesis + purine nucleoside triphosphate biosynthetic process - + - - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. - transcriptional control - regulation of cellular transcription, DNA-dependent - regulation of transcription, DNA-dependent - regulation of gene-specific transcription - regulation of transcription, DNA-templated + + + + The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. + purine ribonucleotide metabolism + purine ribonucleotide metabolic process - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. - regulation of transcription from Pol II promoter - regulation of transcription from RNA polymerase II promoter - global transcription regulation from Pol II promoter - regulation of gene-specific transcription from RNA polymerase II promoter - regulation of global transcription from Pol II promoter - regulation of transcription from RNA polymerase II promoter, global - regulation of transcription by RNA polymerase II + + + + + The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. + purine ribonucleotide anabolism + purine ribonucleotide biosynthesis + purine ribonucleotide formation + purine ribonucleotide synthesis + purine ribonucleotide biosynthetic process - + - - - The synthesis of RNA from a DNA template by RNA polymerase II, originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs). - transcription from Pol II promoter - transcription from RNA polymerase II promoter - RNA polymerase II transcription factor activity - gene-specific transcription from RNA polymerase II promoter - general transcription from RNA polymerase II promoter - specific transcription from RNA polymerase II promoter - transcription by RNA polymerase II + + + + The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. + ribonucleoside monophosphate anabolism + ribonucleoside monophosphate biosynthesis + ribonucleoside monophosphate formation + ribonucleoside monophosphate synthesis + ribonucleoside monophosphate biosynthetic process - + - - - - - - - - - - - - - - - - - - - - - - - - - The synthesis of RNA from a mitochondrial DNA template, usually by a specific mitochondrial RNA polymerase. - transcription from mitochondrial promoter - mitochondrial transcription + + + The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. + ribonucleoside monophosphate metabolism + ribonucleoside monophosphate metabolic process - + - - - - - - - - - Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. - RNA processing + + + + The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). + nucleotide anabolism + nucleotide biosynthesis + nucleotide formation + nucleotide synthesis + nucleotide biosynthetic process - + - - - - The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications) occurring at the level of an individual cell. Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). - protein modification process - process resulting in protein modification - protein tagging activity - cellular protein modification process + + + + The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). + nucleotide breakdown + nucleotide catabolism + nucleotide degradation + nucleotide catabolic process - + - - - - - - - - - - A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. - protein amino acid glycosylation - protein glycosylation + + + + The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. + purine ribonucleoside monophosphate metabolism + purine ribonucleoside monophosphate metabolic process - + - - - A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the N4 atom of peptidyl-asparagine, the omega-N of arginine, or the N1' atom peptidyl-tryptophan. - protein amino acid N-linked glycosylation - N-glycan biosynthesis - N-glycan metabolism - protein N-linked glycosylation + + + + + The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. + purine ribonucleoside monophosphate anabolism + purine ribonucleoside monophosphate biosynthesis + purine ribonucleoside monophosphate formation + purine ribonucleoside monophosphate synthesis + purine ribonucleoside monophosphate biosynthetic process - + - - - A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. - protein amino acid O-linked glycosylation - protein O-linked glycosylation + + + + The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. + purine ribonucleoside diphosphate metabolism + purine ribonucleoside diphosphate metabolic process - + - - - - - - - - - The covalent attachment of lipid groups to an amino acid in a protein. - lipid:protein modification - protein amino acid lipidation - protein lipidation + + + The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. + ribonucleoside diphosphate metabolism + ribonucleoside diphosphate metabolic process - + - - - - The chemical reactions and pathways involving glycosylphosphatidylinositol anchors, molecular mechanisms for attaching membrane proteins to the lipid bilayer of cell membranes. Structurally they consist of a molecule of phosphatidylinositol to which is linked, via the C-6 hydroxyl of the inositol, a carbohydrate chain. This chain is in turn linked to the protein through an ethanolamine phosphate group, the amino group of which is in amide linkage with the C-terminal carboxyl of the protein chain, the phosphate group being esterified to the C-6 hydroxyl of the terminal mannose of the core carbohydrate chain. - GPI/GSI anchor metabolic process - GPI/GSI anchor metabolism - GPI anchor metabolism - glycosylphosphatidylinositol metabolic process - glycosylphosphatidylinositol metabolism - GPI anchor metabolic process + + + The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. + ribonucleoside triphosphate metabolism + ribonucleoside triphosphate metabolic process - + - - - - - - The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. - GPI/GSI anchor biosynthesis - GPI/GSI anchor biosynthetic process - GPI anchor anabolism - GPI anchor biosynthesis - GPI anchor formation - GPI anchor synthesis - glycosylphosphatidylinositol biosynthesis - glycosylphosphatidylinositol biosynthetic process - GPI anchor biosynthetic process + + + + The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. + ribonucleoside triphosphate anabolism + ribonucleoside triphosphate biosynthesis + ribonucleoside triphosphate formation + ribonucleoside triphosphate synthesis + ribonucleoside triphosphate biosynthetic process - + - - - The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. - peptidolysis - ATP-dependent proteolysis - proteolysis + + + + The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. + purine ribonucleoside triphosphate metabolism + purine ribonucleoside triphosphate metabolic process - + - - - - The removal of sugar residues from a glycosylated protein. - glycoprotein deglycosylation - protein deglycosylation + + + + + The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. + purine ribonucleoside triphosphate anabolism + purine ribonucleoside triphosphate biosynthesis + purine ribonucleoside triphosphate formation + purine ribonucleoside triphosphate synthesis + purine ribonucleoside triphosphate biosynthetic process - + - - - - The chemical reactions and pathways involving peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. - peptide metabolism - peptide metabolic process + + + + + + The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. + cobalamin metabolism + vitamin B12 metabolic process + vitamin B12 metabolism + vitamin B12 reduction + cobalamin metabolic process - + - - - - - The chemical reactions and pathways involving amino acids, carboxylic acids containing one or more amino groups, as carried out by individual cells. - amino acid and derivative metabolism - amino acid metabolic process - cellular amino acid and derivative metabolic process - cellular amino acid metabolism - cellular amino acid metabolic process + + + + + The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). + glycolipid anabolism + glycolipid biosynthesis + glycolipid formation + glycolipid synthesis + glycolipid biosynthetic process - + - - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amino acids. - regulation of amino acid metabolism - regulation of cellular amino acid metabolic process + + + + The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. + ribonucleotide metabolism + ribonucleotide metabolic process - + - - - The chemical reactions and pathways involving glutamine, 2-amino-4-carbamoylbutanoic acid. - glutamine metabolism - glutamine metabolic process + + + + + The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. + ribonucleotide anabolism + ribonucleotide biosynthesis + ribonucleotide formation + ribonucleotide synthesis + ribonucleotide biosynthetic process - + - - - - The chemical reactions and pathways involving histidine, 2-amino-3-(1H-imidazol-4-yl)propanoic acid. - histidine metabolism - histidine metabolic process + + + The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined. + nucleoid - + - - - - - The chemical reactions and pathways involving L-phenylalanine, the L-enantiomer of 2-amino-3-phenylpropanoic acid, i.e. (2S)-2-amino-3-phenylpropanoic acid. - phenylalanine metabolic process - phenylalanine metabolism - L-phenylalanine metabolism - L-phenylalanine metabolic process + + + + + The controlled release of proteins from a cell. + glycoprotein secretion + protein secretion during cell fate commitment + protein secretion resulting in cell fate commitment + protein secretion - + - - - The chemical reactions and pathways involving L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. - L-serine metabolism - L-serine metabolic process + + + The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. + amine metabolism + amine metabolic process - + - - - - The chemical reactions and pathways resulting in the formation of L-serine, the L-enantiomer of serine, i.e. (2S)-2-amino-3-hydroxypropanoic acid. - L-serine anabolism - L-serine biosynthesis - L-serine formation - L-serine synthesis - L-serine biosynthetic process + + + The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. + oligosaccharide metabolism + multicellular organismal oligosaccharide metabolic process + oligosaccharide metabolic process - + - - - - - The chemical reactions and pathways involving tryptophan, the chiral amino acid 2-amino-3-(1H-indol-3-yl)propanoic acid. - tryptophan metabolism - tryptophan metabolic process + + + 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 electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. + response to electromagnetic radiation stimulus + response to radiation stimulus + response to radiation - + - - - - The chemical reactions and pathways involving tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. - tyrosine metabolism - tyrosine metabolic process + + + 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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. + response to UV light stimulus + response to UV radiation stimulus + response to ultraviolet light stimulus + response to ultraviolet radiation stimulus + response to UV - + - - - - - The chemical reactions and pathways resulting in the breakdown of tyrosine, an aromatic amino acid, 2-amino-3-(4-hydroxyphenyl)propanoic acid. - tyrosine breakdown - tyrosine catabolism - tyrosine degradation - tyrosine catabolic process + + + 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 light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. + response to light stimulus - + - - - - The chemical reactions and pathways involving valine, 2-amino-3-methylbutanoic acid. - valine metabolism - valine metabolic process + + + + + The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. + 4-aminobutanoate metabolic process + 4-aminobutanoate metabolism + 4-aminobutyrate metabolic process + 4-aminobutyrate metabolism + GABA metabolic process + GABA metabolism + gamma-aminobutyric acid metabolism + gamma-aminobutyric acid metabolic process - + - - - - The chemical reactions and pathways involving compounds derived from amino acids, organic acids containing one or more amino substituents. - amino acid derivative metabolic process - cellular amino acid derivative metabolic process - cellular amino acid derivative metabolism - cellular modified amino acid metabolism - modified amino acid metabolic process - modified amino acid metabolism - cellular modified amino acid metabolic process + + + + + + The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. + 4-aminobutanoate catabolic process + 4-aminobutanoate catabolism + 4-aminobutyrate catabolic process + 4-aminobutyrate catabolism + GABA catabolic process + GABA catabolism + gamma-aminobutyric acid breakdown + gamma-aminobutyric acid catabolism + gamma-aminobutyric acid degradation + gamma-aminobutyric acid catabolic process - + - - - The chemical reactions and pathways occurring at the level of individual cells involving any of a group of naturally occurring, biologically active amines, such as norepinephrine, histamine, and serotonin, many of which act as neurotransmitters. - biogenic amine metabolism - cellular biogenic amine metabolic process + + + + + + + + + The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). + syngamy + fertilization - + - - - - The chemical reactions and pathways involving any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. - catecholamine metabolism - catecholamine metabolic process + + + + The series of events in which an external stimulus is received by a cell and converted into a molecular signal. + perception of external stimulus + detection of external stimulus - + - - - - The chemical reactions and pathways involving indolalkylamines, indole or indole derivatives containing a primary, secondary, or tertiary amine group. - indolamine metabolic process - indolamine metabolism - indolalkylamine metabolism - indolalkylamine metabolic process + + + + The series of events in which an (non-living) abiotic stimulus is received by a cell and converted into a molecular signal. + perception of abiotic stimulus + detection of abiotic stimulus - + - - - - - The chemical reactions and pathways involving creatine (N-(aminoiminomethyl)-N-methylglycine), a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. - creatine metabolism - creatine metabolic process + + + + + The series of events in which a light stimulus (in the form of photons) is received and converted into a molecular signal. + detection of light + perception of light + detection of light stimulus - + - - - - - - - - - - - - - - - - - - - - - Protein processing that takes place in the vacuole. Most protein processing in the vacuole represents proteolytic cleavage of precursors to form active enzymes. - vacuolar protein maturation - vacuolar proteolysis - vacuolar protein processing + + + The series of events in which a visible light stimulus is received by a cell and converted into a molecular signal. A visible light stimulus is electromagnetic radiation that can be perceived visually by an organism; for organisms lacking a visual system, this can be defined as light with a wavelength within the range 380 to 780 nm. + perception of visible light + detection of visible light - + - - - - The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. - lipid metabolism - lipid metabolic process + + + 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 external stimulus. + response to environmental stimulus + response to external stimulus - + - - - - The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis. - fatty acid metabolism - fatty acid metabolic process + + + 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 biotic stimulus, a stimulus caused or produced by a living organism. + response to biotic stress + response to biotic stimulus - + - - - - - The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. - fatty acid anabolism - fatty acid biosynthesis - fatty acid formation - fatty acid synthesis - fatty acid biosynthetic process + + + 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 stimulus indicating damage to the organism. + physiological response to wounding + response to wounding - + - - - The chemical reactions and pathways involving membrane lipids, any lipid found in or associated with a biological membrane. - membrane lipid metabolism - membrane lipid metabolic process + + + 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 stimulus from a bacterium. + response to bacteria + response to bacterium - + - - - - - The chemical reactions and pathways involving phospholipids, any lipid containing phosphoric acid as a mono- or diester. - phospholipid metabolism - phospholipid metabolic process + + + 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 abiotic (non-living) stimulus. + response to abiotic stress + response to abiotic stimulus - + - - - - The chemical reactions and pathways involving glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. - glycerophospholipid metabolism - phosphoglyceride metabolic process - phosphoglyceride metabolism - alpha-glycerophosphate pathway - glycerophospholipid metabolic process + + + 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 toxic stimulus. + detoxification response + toxin resistance + toxin susceptibility/resistance + response to toxic substance - + - - - - The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol. - PtdIns biosynthesis - PtdIns biosynthetic process - phosphatidylinositol anabolism - phosphatidylinositol biosynthesis - phosphatidylinositol formation - phosphatidylinositol synthesis - phosphoinositide biosynthesis - phosphoinositide biosynthetic process - phosphatidylinositol biosynthetic process + + + + + + + + + The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. + embryogenesis and morphogenesis + anatomical structure organization + morphogenesis + anatomical structure morphogenesis - + - - - The chemical reactions and pathways involving glycerol ethers, any anhydride formed between two organic hydroxy compounds, one of which is glycerol. - glycerol ether metabolism - glycerol ether metabolic process + + + The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. + catechol metabolic process + catechol metabolism + catechol-containing compound metabolic process - + - - - - The chemical reactions and pathways involving glycolipids, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). Some substances classified as bacterial glycolipids have the sugar group acylated by one or more fatty acids and the glycerol group may be absent. - glycolipid metabolism - glycolipid metabolic process + + + + The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. + catechol anabolism + catechol biosynthesis + catechol biosynthetic process + catechol formation + catechol synthesis + catechol-containing compound biosynthetic process - + - - - - The chemical reactions and pathways involving sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). - sphingolipid metabolism - sphingolipid metabolic process + + + 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 stimulus arising within the organism. + response to endogenous stimulus - + - - - - - The chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus; includes de novo formation and steroid interconversion by modification. - steroid anabolism - steroid biosynthesis - steroid formation - steroid synthesis - steroidogenesis - steroid biosynthetic process + + + + 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 hormone stimulus. + response to hormone stimulus + growth regulator + response to hormone - + - - - - - The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. - cholesterol anabolism - cholesterol biosynthesis - cholesterol formation - cholesterol synthesis - cholesterol biosynthetic process + + + + + + + + + A series of molecular signals mediated by the detection of a hormone. + hormone mediated signalling + hormone-mediated signaling pathway - + - - - - - - The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile. - bile acid anabolism - bile acid biosynthesis - bile acid formation - bile acid synthesis - bile acid biosynthetic process + + + The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. + embryogenesis and morphogenesis + embryogenesis + embryonal development + embryo development - + - - - - - The chemical reactions and pathways resulting in the formation of glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. - glucocorticoid anabolism - glucocorticoid biosynthesis - glucocorticoid formation - glucocorticoid synthesis - glucocorticoid biosynthetic process + + + The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. + embryogenesis + embryo development ending in birth or egg hatching - + - - - The chemical reactions and pathways involving isoprenoid compounds, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues. - isoprenoid metabolism - polyisoprenoid metabolic process - polyisoprenoid metabolism - polyterpene metabolic process - polyterpene metabolism - isoprenoid metabolic process + + + + + + + + + Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. + histogenesis and organogenesis + animal organ morphogenesis - + - - - The chemical reactions and pathways involving terpenoids, any member of a class of compounds characterized by an isoprenoid chemical structure and including derivatives with various functional groups. - terpenoid metabolism - terpenoid metabolic process + + + The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. + histogenesis and organogenesis + histogenesis + tissue development - + - - - The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells. - aromatic compound metabolism - aromatic hydrocarbon metabolic process - aromatic hydrocarbon metabolism - cellular aromatic compound metabolic process + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. + regulation of anabolism + regulation of biosynthesis + regulation of formation + regulation of synthesis + regulation of biosynthetic process - + - - - The chemical reactions and pathways involving coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. - coenzyme and prosthetic group metabolic process - coenzyme and prosthetic group metabolism - coenzyme metabolism - group transfer coenzyme metabolic process - group transfer coenzyme metabolism - coenzyme metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. + down regulation of biosynthetic process + down-regulation of biosynthetic process + downregulation of biosynthetic process + negative regulation of anabolism + negative regulation of biosynthesis + negative regulation of formation + negative regulation of synthesis + inhibition of biosynthetic process + negative regulation of biosynthetic process - + - - - The chemical reactions and pathways involving coenzymes that are required, in addition to an enzyme and a substrate, for an oxidoreductase reaction to proceed. - oxidoreduction coenzyme metabolism - oxidoreduction coenzyme metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. + positive regulation of anabolism + positive regulation of biosynthesis + positive regulation of formation + positive regulation of synthesis + up regulation of biosynthetic process + up-regulation of biosynthetic process + upregulation of biosynthetic process + activation of biosynthetic process + stimulation of biosynthetic process + positive regulation of biosynthetic process - + - - - - The chemical reactions and pathways involving ubiquinone, a lipid-soluble electron-transporting coenzyme. - coenzyme Q metabolic process - coenzyme Q metabolism - ubiquinone metabolism - ubiquinone metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. + down regulation of metabolic process + down-regulation of metabolic process + downregulation of metabolic process + negative regulation of metabolism + negative regulation of organismal metabolism + inhibition of metabolic process + inhibition of organismal metabolic process + negative regulation of multicellular organismal metabolic process + negative regulation of metabolic process - + - - - - The chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. - coenzyme Q biosynthesis - coenzyme Q biosynthetic process - ubiquinone anabolism - ubiquinone biosynthesis - ubiquinone formation - ubiquinone synthesis - coenzyme Q10 biosynthesis - coenzyme Q10 biosynthetic process - coenzyme Q6 biosynthesis - coenzyme Q6 biosynthetic process - coenzyme Q8 biosynthesis - coenzyme Q8 biosynthetic process - coenzyme Q9 biosynthesis - coenzyme Q9 biosynthetic process - ubiquinone biosynthetic process + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. + positive regulation of metabolism + up regulation of metabolic process + up-regulation of metabolic process + upregulation of metabolic process + activation of metabolic process + positive regulation of multicellular organismal metabolic process + positive regulation of organismal metabolism + stimulation of metabolic process + stimulation of organismal metabolic process + up-regulation of organismal metabolic process + positive regulation of metabolic process - + - - - - - - The chemical reactions and pathways involving glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins; it has a specific role in the reduction of hydrogen peroxide (H2O2) and oxidized ascorbate, and it participates in the gamma-glutamyl cycle. - glutathione metabolism - oxidized glutathione reduction - glutathione metabolic process + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. + regulation of breakdown + regulation of catabolism + regulation of degradation + regulation of catabolic process - + - - - - - - - The chemical reactions and pathways resulting in the formation of glutathione, the tripeptide glutamylcysteinylglycine, which acts as a coenzyme for some enzymes and as an antioxidant in the protection of sulfhydryl groups in enzymes and other proteins. - glutathione anabolism - glutathione biosynthesis - glutathione formation - glutathione synthesis - glutathione biosynthetic process + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. + down regulation of catabolic process + down-regulation of catabolic process + downregulation of catabolic process + negative regulation of breakdown + negative regulation of catabolism + negative regulation of degradation + inhibition of catabolic process + negative regulation of catabolic process - + - - - - - The chemical reactions and pathways involving any phosphorylated nucleoside. - nucleoside phosphate metabolism - nucleoside phosphate metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. + positive regulation of breakdown + positive regulation of catabolism + positive regulation of degradation + up regulation of catabolic process + up-regulation of catabolic process + upregulation of catabolic process + activation of catabolic process + stimulation of catabolic process + positive regulation of catabolic process - + - - - - - - The chemical reactions and pathways resulting in the formation of ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. - ATP anabolism - ATP biosynthesis - ATP formation - ATP synthesis - ATP regeneration - ATP biosynthetic process + + + + The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + hormone transport - + - - - - - - The process of introducing a phosphate group into ADP, adenosine diphosphate, to produce ATP. - ADP phosphorylation - ATP generation from ADP + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of signal transduction. + regulation of signaling pathway + regulation of signalling pathway + regulation of signal transduction - + - - - - - - - The chemical reactions and pathways involving a folic acid-containing compound, i.e. any of a group of heterocyclic compounds based on the pteroic acid skeleton conjugated with one or more L-glutamic acid or L-glutamate units. - folate and derivative metabolic process - folate and derivative metabolism - folate-containing compound metabolic process - folate-containing compound metabolism - folic acid and derivative metabolic process - folic acid and derivative metabolism - folic acid-containing compound metabolism - vitamin B9 and derivative metabolic process - vitamin B9 and derivative metabolism - vitamin M and derivative metabolic process - vitamin M and derivative metabolism - folic acid-containing compound metabolic process + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of signal transduction. + up regulation of signal transduction + up-regulation of signal transduction + upregulation of signal transduction + activation of signal transduction + stimulation of signal transduction + positive regulation of signaling pathway + positive regulation of signalling pathway + positive regulation of signal transduction - + - - - The chemical reactions and pathways involving vitamins. Vitamin is a general term for a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. Vitamins may be water-soluble or fat-soluble and usually serve as components of coenzyme systems. - vitamin metabolism - vitamin metabolic process + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. + down regulation of signal transduction + down-regulation of signal transduction + downregulation of signal transduction + inhibition of signal transduction + negative regulation of signaling pathway + negative regulation of signalling pathway + negative regulation of signal transduction - + - - - The chemical reactions and pathways involving any of a diverse group of vitamins that are soluble in water. - water-soluble vitamin metabolism - water-soluble vitamin metabolic process + + + Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. + cell physiology + cellular physiological process + cell growth and/or maintenance + single-organism cellular process + cellular process - + - - - - - - - - - - - The chemical reactions and pathways involving biotin, cis-tetrahydro-2-oxothieno(3,4-d)imidazoline-4-valeric acid; the (+) enantiomer is very widely distributed in cells and serves as a carrier in a number of enzymatic beta-carboxylation reactions. - biotin metabolism - vitamin B7 metabolic process - vitamin B7 metabolism - vitamin H metabolic process - vitamin H metabolism - biotin metabolic process + + + 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 extracellular stimulus. + response to extracellular stimulus - + - - - The chemical reactions and pathways involving of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. - fat-soluble vitamin metabolism - fat-soluble vitamin metabolic process + + + + + + + + + + + + + + + Compaction of chromatin structure prior to meiosis in eukaryotic cells. + chromosome condensation involved in meiotic cell cycle + meiotic chromosome condensation - + - - - - The chemical reactions and pathways involving any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid, all of which are derivatives of beta-carotene. - vitamin A metabolism - vitamin A metabolic process + + + 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 organic substance stimulus. + response to organic substance - + - - - - The chemical reactions and pathways involving any member of a large group of derivatives or analogs of porphyrin. Porphyrins consists of a ring of four pyrrole nuclei linked each to the next at their alpha positions through a methine group. - porphyrin metabolic process - porphyrin metabolism - porphyrin-containing compound metabolic process + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of proton transport - + - - - The chemical reactions and pathways involving the nonmetallic element sulfur or compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. - sulfur metabolism - sulphur metabolic process - sulphur metabolism - sulfur compound metabolic process + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cellular defense response. + regulation of cellular defence response + regulation of cellular defense response - + - - - The chemical reactions and pathways involving the nonmetallic element phosphorus or compounds that contain phosphorus, usually in the form of a phosphate group (PO4). - phosphorus metabolism - phosphorus metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cellular defense response. + positive regulation of cellular defence response + up regulation of cellular defense response + up-regulation of cellular defense response + upregulation of cellular defense response + activation of cellular defense response + stimulation of cellular defense response + positive regulation of cellular defense response - + - - - The chemical reactions and pathways involving the phosphate group, the anion or salt of any phosphoric acid. - phosphate metabolism - phosphate metabolic process - phosphate-containing compound metabolic process + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. + endomembrane organization + endomembrane system organisation + endomembrane system organization - + - - - The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen. - nitrogen compound metabolism - nitrogen compound metabolic process + + + + An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). + multicellular organism aging - + - - - The directed movement of substances (such as macromolecules, small molecules, ions) or cellular components (such as complexes and organelles) into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter, pore or motor protein. - small molecule transport - solute:solute exchange - single-organism transport - transport + + + The infolding of a membrane. + single-organism membrane invagination + membrane invagination - + - - - The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - ion transport + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. + regulation of cell fate commitment - + - - - The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - di-, tri-valent inorganic cation transport - cation transport + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. + negative regulation of cell fate commitment - + - - - The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - calcium transport - mitochondrial sodium/calcium ion exchange - sodium:calcium exchange - calcium ion transport + + + + + + + + + + + + + + + + + + + + + Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. + positive regulation of cell fate commitment - + - - - The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - anion transport + + + + + + + + + + + + + + + + + + + + + + Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. + negative regulation of peptidase activity - + - - - The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - chloride transport + + + The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. + gene expression - + - - - The directed movement of iron (Fe) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - iron transport - iron ion transport + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. + regulation of protein expression + regulation of gene product expression + regulation of gene expression - + - - - The directed movement of dicarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - sodium:dicarboxylate transport - dicarboxylic acid transport + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. + regulation of receptor activity + regulation of signaling receptor activity - + - - - Transport of substances into, out of or within a mitochondrion. - mitochondrial alpha-ketoglutarate/malate transport - mitochondrial aspartate/glutamate transport - mitochondrial sodium/calcium ion exchange - mitochondrial transport + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. + regulation of phosphatidylinositol biosynthetic process - + - - - - The process in which a drug is transported across a membrane. - drug membrane transport - multidrug transport - drug transmembrane transport + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. + negative regulation of phosphatidylinositol biosynthetic process + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. + positive regulation of phosphatidylinositol biosynthetic process - + - + - + - - + + - + + - - + + - The transport of substances that occurs outside cells. - extracellular transport + Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + regulation of macromolecule biosynthetic process - + - + - + - - + + - - - The directed extracellular movement of carbohydrates. - extracellular carbohydrate transport + + + + + + + + + + Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + positive regulation of macromolecule biosynthetic process - + - + - + - - + + - - - The directed extracellular movement of amino acids. - extracellular amino acid transport - - - - - - - - - - The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - amino acid transport - - - - - - - - + + + - - + + - The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. - lipid transport - - - - - - - - - - Any process involved in the maintenance of an internal steady state of ions at the level of a cell. - cellular ion homeostasis - - - - - - - - - - - Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell. - regulation of calcium ion concentration - cellular calcium ion homeostasis - - - - - - - - - - Any process involved in the maintenance of an internal steady state of metal ions at the level of a cell. - cellular heavy metal ion homeostasis - cellular metal ion homeostasis - - - - - - - - - - Any process involved in the maintenance of an internal steady state of copper ions at the level of a cell. - copper homeostasis - cellular copper ion homeostasis - - - - - - - - - - Any process involved in the maintenance of an internal steady state of iron ions at the level of a cell. - iron homeostasis - cellular iron ion homeostasis - - - - - - - - - Any process involved in the maintenance of an internal equilibrium of hydrogen ions, thereby modulating the internal pH, within an organism or cell. - hydrogen ion homeostasis - regulation of pH + Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + negative regulation of macromolecule biosynthetic process - + - - - - - - - - - + + + + + + + + + + + + + + - - + + - A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. - endocytic import into cell - vesicle endocytosis - plasma membrane invagination - nonselective vesicle endocytosis - endocytosis + Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. + regulation of glycoprotein biosynthetic process - + - - - + + + + + + + + + + + + + + + + - - + + - The evagination of a membrane, resulting in formation of a vesicle. - membrane evagination - vesicle biosynthesis - vesicle formation - nonselective vesicle assembly - single organism membrane budding - single-organism membrane budding - vesicle budding - vesicle budding from membrane - - - - - - - - - An endocytosis process that results in the engulfment of external particulate material by phagocytes. The particles are initially contained within phagocytic vacuoles (phagosomes), which then fuse with primary lysosomes to effect digestion of the particles. - phagocytosis + Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. + positive regulation of glycoprotein biosynthetic process - + - + - + - - + + - + + + - - + + - The internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis, including the membrane and cytoskeletal processes required, which involves one of three mechanisms: zippering of pseudopods around a target via repeated receptor-ligand interactions, sinking of the target directly into plasma membrane of the phagocytosing cell, or induced uptake via an enhanced membrane ruffling of the phagocytosing cell similar to macropinocytosis. - phagosome biosynthesis - phagosome formation - phagocytosis, engulfment - - - - - - - - - The directed, self-propelled movement of a cell or subcellular component without the involvement of an external agent such as a transporter or a pore. - cellular component motion - cellular component movement - cell movement - movement of cell or subcellular component + Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. + negative regulation of glycoprotein biosynthetic process - + - - + + + + + + + + + + + + + + - - + + - The directed movement of a motile cell or organism, or the directed growth of a cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). - taxis in response to chemical stimulus - chemotaxis - - - - - - - - - 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 disturbance in organismal or cellular homeostasis, usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). - response to abiotic stress - response to biotic stress - response to stress - - - - - - - - - Reactions, triggered in response to the presence of a foreign body or the occurrence of an injury, which result in restriction of damage to the organism attacked or prevention/recovery from the infection caused by the attack. - defence response - physiological defense response - antimicrobial peptide activity - defense/immunity protein activity - defense response - - - - - - - - - The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages. - Inflammation - inflammatory response - - - - - - - - - - Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. - immune response - - - - - - - - - - - - Any process involved in the activation of any of the steps of the complement cascade, which allows for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes; the initial steps of complement activation involve one of three pathways, the classical pathway, the alternative pathway, and the lectin pathway, all of which lead to the terminal complement pathway. - complement cascade - complement response - complement activity - complement activation - - - - - - - - - An immune response mediated through a body fluid. - humoral immune response + Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. + positive regulation of phosphorus metabolic process - + - - - A defense response that is mediated by cells. - cellular defence response - cellular defense response + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. + negative regulation of phosphorus metabolic process - + - - - 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 stimulus indicating damage to its DNA from environmental insults or errors during metabolism. - response to DNA damage stimulus - DNA damage response - cellular DNA damage response - response to genotoxic stress - cellular response to DNA damage stimulus + + + + + + + + + + + + + + + + + + + + Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. + regulation of cell cycle process - + - - - A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. - organelle organisation - single organism organelle organization - organelle organization and biogenesis - single-organism organelle organization - organelle organization + + + + + + + + + + + + + + + + + + + + Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. + regulation of cellular ketone metabolic process - + - - - A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrion; includes mitochondrial morphogenesis and distribution, and replication of the mitochondrial genome as well as synthesis of new mitochondrial components. - mitochondria organization - mitochondrion organisation - mitochondrion organization and biogenesis - mitochondrion organization + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. + regulation of ketone biosynthetic process - + - + - + - - + + - - + + - - + + - A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a mitochondrial membrane, either of the lipid bilayer surrounding a mitochondrion. - mitochondrial membrane organisation - mitochondrial membrane organization and biogenesis - mitochondrial membrane organization + Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + positive regulation of macromolecule metabolic process - + - - + + + + + + + + + + + + + + - - + + - A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. - plasma membrane organisation - plasma membrane organization and biogenesis - plasma membrane organization - - - - - - - - - The directed movement of substances into, out of or within a vacuole. - vacuolar transport + Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + negative regulation of macromolecule metabolic process - + - + - + - - + + - + + - - + + - Any process involved in the maintenance of an internal steady state of calcium ions in the vacuole or between a vacuole and its surroundings. - vacuolar calcium ion homeostasis - - - - - - - - - The directed movement of substances into, out of or within a lysosome. - lysosomal transport - - - - - - - - - The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. - cell-division cycle - cell cycle + The activation of endogenous cellular processes that result in the death of a cell as part of its development. + developmental programmed cell death + programmed cell death involved in development + programmed cell death involved in cell development - + - + - - - - - + - - + + - - + + - - + + - A cell cycle process by which the cell nucleus divides as part of a meiotic cell cycle in the male germline. - male nuclear division - male meiosis - male meiotic nuclear division - - - - - - - - - Any process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. - cell communication - - - - - - - - - The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. - cell adhesion molecule activity - single organism cell adhesion - cell adhesion - - - - - - - - - The attachment of a leukocyte to another cell via adhesion molecules. - leukocyte adhesion - leukocyte cell adhesion - leukocyte cell-cell adhesion + Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. + positive regulation of gene expression - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of cell adhesion. - down regulation of cell adhesion - down-regulation of cell adhesion - downregulation of cell adhesion - inhibition of cell adhesion - cell adhesion receptor inhibitor activity - negative regulation of cell adhesion + Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. + negative regulation of gene expression - + - - - - - - - - - - - - - - - + + + + + + + + + + + + + + - - + + - The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. - signaling cascade - signalling cascade - signaling pathway - signalling pathway - signal transduction - - - - - - - - - A series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription. - cell surface receptor linked signal transduction - cell surface receptor linked signaling pathway - cell surface receptor linked signalling pathway - cell surface receptor signaling pathway + Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. + positive regulation of organelle organisation + positive regulation of organelle organization and biogenesis + positive regulation of organelle organization - + - - + + + + + + + + + + + + + + - - + + - A series of molecular signals initiated by the binding of glutamate to a glutamate receptor on the surface of a target cell, and ending with regulation of a downstream cellular process, e.g. transcription. - glutamate signaling pathway - glutamate signalling pathway - glutamate receptor signaling pathway + Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. + negative regulation of organelle organisation + negative regulation of organelle organization and biogenesis + negative regulation of organelle organization - + - - + + + + + + + + + + + + + - - + + - The process in which a signal is passed on to downstream components within the cell through the I-kappaB-kinase (IKK)-dependent activation of NF-kappaB. The cascade begins with activation of a trimeric IKK complex (consisting of catalytic kinase subunits IKKalpha and/or IKKbeta, and the regulatory scaffold protein NEMO) and ends with the regulation of transcription of target genes by NF-kappaB. In a resting state, NF-kappaB dimers are bound to I-kappaB proteins, sequestering NF-kappaB in the cytoplasm. Phosphorylation of I-kappaB targets I-kappaB for ubiquitination and proteasomal degradation, thus releasing the NF-kappaB dimers, which can translocate to the nucleus to bind DNA and regulate transcription. - NF-kappaB cascade - I-kappaB kinase/NF-kappaB signal transduction - canonical NF-kappaB signaling cascade - I-kappaB kinase/NF-kappaB cascade - activation of the inhibitor of kappa kinase - p50-dependent NF-kappaB signaling - I-kappaB kinase/NF-kappaB signaling - - - - - - - - - Any series of molecular signals in which a small monomeric GTPase relays one or more of the signals. - small GTPase-mediated signal transduction - small GTPase mediated signal transduction - - - - - - - - - A series of molecular signals within the cell that are mediated by a member of the Ras superfamily of proteins switching to a GTP-bound active state. - Ras mediated signal transduction - Ras protein signal transduction - - - - - - - - - - Any process that mediates the transfer of information from one cell to another. This process includes signal transduction in the receiving cell and, where applicable, release of a ligand and any processes that actively facilitate its transport and presentation to the receiving cell. Examples include signaling via soluble ligands, via cell adhesion molecules and via gap junctions. - cell-cell signalling - cell-cell signaling - - - - - - - - - The vesicular release of classical neurotransmitter molecules from a presynapse, across a chemical synapse, the subsequent activation of neurotransmitter receptors at the postsynapse of a target cell (neuron, muscle, or secretory cell) and the effects of this activation on the postsynaptic membrane potential and ionic composition of the postsynaptic cytosol. This process encompasses both spontaneous and evoked release of neurotransmitter and all parts of synaptic vesicle exocytosis. Evoked transmission starts with the arrival of an action potential at the presynapse. - signal transmission across a synapse - synaptic transmission - neurotransmission - chemical synaptic transmission + Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. + regulation of cell communication - + - - + + + + + + + + + + + + + + - - + + - The process in which glial cells envelop neuronal cell bodies and/or axons to form an insulating layer. This can take the form of myelinating or non-myelinating ensheathment. - ionic insulation of neurons by glial cells - ensheathment of neurons - - - - - - - - - The process of synaptic transmission from a neuron to a muscle, across a synapse. - neuromuscular synaptic transmission - - - - - - - - - - The biological process whose specific outcome is the progression of a multicellular organism over time from an initial condition (e.g. a zygote or a young adult) to a later condition (e.g. a multicellular animal or an aged adult). - multicellular organism development + Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. + positive regulation of cell communication - + - - + + + + + + + + + + + + + + - - + + - The generation and maintenance of gametes in a multicellular organism. A gamete is a haploid reproductive cell. - gametogenesis - gamete generation - - - - - - - - - The process of formation of spermatozoa, including spermatocytogenesis and spermiogenesis. - generation of spermatozoa - spermatogenesis - - - - - - - - - The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. - pan-neural process - nervous system development + Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. + negative regulation of cell communication - + - - - - - - - - - The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. - CNS development - central nervous system development + + + A tissue homeostatic process required for the maintenance of epithelial structure. + epithelial structure maintenance - + - - - - - - - - - - - - - - - The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). - brain development + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. + regulation of transcription from RNA polymerase II promoter, meiotic + regulation of meiosis by regulation of transcription from RNA polymerase II promoter + regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle - + - - - The process whose specific outcome is the progression of sensory organs over time, from its formation to the mature structure. - sense organ development - sensory organ development + + + + + + + + + + + + + + + + Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. + positive regulation of transcription from RNA polymerase II promoter, meiotic + activation of meiosis by positive regulation of transcription from RNA polymerase II promoter + positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter + stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter + up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter + up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter + upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter + positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle - + - - - The process whose specific outcome is the progression of the mesoderm over time, from its formation to the mature structure. The mesoderm is the middle germ layer that develops into muscle, bone, cartilage, blood and connective tissue. - mesoderm development + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. + negative regulation of transcription from RNA polymerase II promoter, meiotic + activation of meiosis by negative regulation of transcription from RNA polymerase II promoter + positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter + stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter + up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter + up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter + upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter + negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle - + - - + + + + + + + + + + + + + + - - + + - A cell-cell signaling process occurring between the two gastrulation-generated layers of the ectoderm and the mesoderm. - ectoderm/mesoderm interaction - ectoderm and mesoderm interaction + Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. + regulation of cellular carbohydrate metabolic process - + - - + + + + + + + + + + + + + + + - - + + - The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. - dorsal vessel development - cardiac development - heart development - - - - - - - - - The establishment of the sex of an organism by physical differentiation. - sex differentiation - - - - - - - - - - The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. - gestation - carrying of young - female pregnancy + Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. + positive regulation of cellular carbohydrate metabolic process - + - - - - - - - - + + + + + + + + + + + + + + + - - + + - Attachment of the blastocyst to the uterine lining. - blastocyst implantation - embryo implantation - - - - - - - - - A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700). - ageing - aging + Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. + negative regulation of cellular carbohydrate metabolic process - + - - - - 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 nutrient stimulus. - response to nutrients - nutritional response pathway - response to nutrient + + + + + + + + + + + + + + + Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription. + negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent + negative regulation of cellular carbohydrate metabolic process by repression of transcription + negative regulation of cellular carbohydrate metabolic process by transcriptional repression + negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated - + - - - The process of gaseous exchange between an organism and its environment. In plants, microorganisms, and many small animals, air or water makes direct contact with the organism's cells or tissue fluids, and the processes of diffusion supply the organism with dioxygen (O2) and remove carbon dioxide (CO2). In larger animals the efficiency of gaseous exchange is improved by specialized respiratory organs, such as lungs and gills, which are ventilated by breathing mechanisms. - breathing - respiration - respiratory gaseous exchange + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. + positive regulation of cell development - + - - - The whole of the physical, chemical, and biochemical processes carried out by multicellular organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. - digestion + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. + negative regulation of cell development - + - - - The elimination by an organism of the waste products that arise as a result of metabolic activity. These products include water, carbon dioxide (CO2), and nitrogenous compounds. - excretion + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. + regulation of ubiquinone biosynthetic process - + - - - - The controlled release of a fluid by a cell or tissue in an animal. - body fluid secretion + + + Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. + regulation of hormone levels - + - - - - - - - - + + + + + + + + + + + + + - - + + - The regulated release of milk from the mammary glands and the period of time that a mother lactates to feed her young. - milk secretion - lactation + Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. + regulation of mitochondrion organisation + regulation of mitochondrion organization - + - - - + + + + + + + + + + + + + + - - + + - The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages: stage 1, the formation of intrinsic and extrinsic prothrombin converting principle; stage 2, the formation of thrombin; stage 3, the formation of stable fibrin polymers. - blood clotting - blood coagulation - - - - - - - - - The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. - hemostasis - - - - - - - - - The series of events required for an organism to receive a sensory stimulus, convert it to a molecular signal, and recognize and characterize the signal. This is a neurological process. - sensory perception + Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. + positive regulation of mitochondrion organisation + positive regulation of mitochondrion organization - + - - - The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image. - sense of sight - sensory visual perception - vision - visual perception + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. + negative regulation of mitochondrion organisation + negative regulation of mitochondrion organization - + - - - The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. - hearing - perception of sound - sensory perception of sound + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of glucose transport + regulation of glucose transmembrane transport - + - - - - The internally coordinated responses (actions or inactions) of animals (individuals or groups) to internal or external stimuli, via a mechanism that involves nervous system activity. - behavioral response to stimulus - behaviour - behavioural response to stimulus - single-organism behavior - behavior + + + + + + + + + + + + + + + + + + + + + Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + positive regulation of glucose transport + positive regulation of glucose transmembrane transport - + - - - - The acquisition and processing of information and/or the storage and retrieval of this information over time. - learning or memory + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + negative regulation of glucose transport + negative regulation of glucose transmembrane transport - + - - - The activities involved in the mental information processing system that receives (registers), modifies, stores, and retrieves informational stimuli. The main stages involved in the formation and retrieval of memory are encoding (processing of received information by acquisition), storage (building a permanent record of received information as a result of consolidation) and retrieval (calling back the stored information and use it in a suitable way to execute a given task). - memory + + + Any process in which a lipid is transported to, or maintained in, a specific location. + lipid localisation + lipid localization - + - + - + - + - + - + - The behavioral interactions between organisms for the purpose of mating, or sexual reproduction resulting in the formation of zygotes. - mating behaviour - mating behavior + The directed movement of lipids into cells that is part of their accumulation and maintenance. + lipid transport involved in lipid storage - + - - + + + + + + + + + + + + + + - - + + - The pairwise union of individuals for the purpose of sexual reproduction, ultimately resulting in the formation of zygotes. - mating - - - - - - - - - The act of sexual union between male and female, involving the transfer of sperm. - copulation - - - - - - - - - - The specific behavior of an organism that recur with measured regularity. - rhythmic behavioral response to stimulus - rhythmic behaviour - rhythmic behavioural response to stimulus - rhythmic behavior - - - - - - - - - Any biological process in an organism that recurs with a regularity of approximately 24 hours. - circadian process - circadian response - response to circadian rhythm - circadian rhythm - - - - - - - - - Behavior associated with the intake of food. - behavioral response to food - behavioural response to food - feeding behaviour - drinking - eating - feeding behavior + Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. + regulation of lipid sequestration + regulation of lipid storage - + - - - - - The behavior of an organism in response to a visual stimulus. - behavioral response to visual stimulus - behavioural response to visual stimulus - visual behaviour - visual behavior + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. + positive regulation of lipid sequestration + positive regulation of lipid storage - + - - - The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products. - hemolymph circulation - blood circulation + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. + negative regulation of lipid storage - + - + - + - + - + - Any process that modulates the frequency, rate or extent of heart contraction. Heart contraction is the process in which the heart decreases in volume in a characteristic way to propel blood through the body. - regulation of cardiac contraction - regulation of heart contraction + Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. + regulation of sequestering of triacylglycerol + regulation of triacylglycerol sequestration + regulation of sequestering of triglyceride - + - - + + + + + + + + + + + + + + - - + + - Combining with glutamate and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. - glutamate receptor activity - - - - - - - - - - Catalysis of the transfer of an acetyl group to a nitrogen atom on the acceptor molecule. - N-acetyltransferase activity - - - - - - - - - Interacting selectively and non-covalently with a drug, any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease. - drug binding + Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. + positive regulation of sequestering of triacylglycerol + positive regulation of triglyceride sequestration + positive regulation of sequestering of triglyceride - + - - Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end. - biological process - physiological process - single organism process - single-organism process - biological_process + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. + negative regulation of sequestering of triacylglycerol + negative regulation of triglyceride sequestration + negative regulation of sequestering of triglyceride - + - - - The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation. - metabolism - metabolic process resulting in cell growth - metabolism resulting in cell growth - multicellular organism metabolic process - single-organism metabolic process - metabolic process + + + + + + + + + + + + + + + + + + + + + + Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. + positive regulation of steroid biosynthetic process - + - - - - The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. - steroid metabolism - steroid metabolic process + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. + negative regulation of steroid biosynthetic process - + - - - - The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues. - cholesterol metabolism - cholesterol metabolic process + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. + regulation of glucose metabolism + regulation of glucose metabolic process - + - - - - - The chemical reactions and pathways involving bile acids, any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine. - bile acid metabolism - bile acid metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. + positive regulation of glucose metabolism + positive regulation of glucose metabolic process - + - - - - The chemical reactions and pathways involving glucocorticoids, hormonal C21 corticosteroids synthesized from cholesterol. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. - glucocorticoid metabolism - glucocorticosteroid metabolic process - glucocorticosteroid metabolism - glucocorticoid metabolic process + + + + + + + + + + + + + + + + + + + + Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. + regulation of isomerase activity - + - - + + + + + + + + + + + + + + - - + + - The process in which a microorganism (or other particulate material) is rendered more susceptible to phagocytosis by coating with an opsonin, a blood serum protein such as a complement component or antibody. - opsonization + Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. + positive regulation of isomerase activity - + - - - + + + + + + + + + + + + + + - + - Catalysis of the hydrolysis of a peptide bond. A peptide bond is a covalent bond formed when the carbon atom from the carboxyl group of one amino acid shares electrons with the nitrogen atom from the amino group of a second amino acid. - hydrolase, acting on peptide bonds - peptide hydrolase activity - protease activity - proteinase activity - peptidase activity - - - - - - - - - - Catalysis of the hydrolysis of peptide bonds in a polypeptide chain by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). - serine protease activity - serine-type peptidase activity - - - - - - - - - Catalysis of the hydrolysis of a peptide bond not more than three residues from the N- or C-terminus of a polypeptide chain, in a reaction that requires a free N-terminal amino group, C-terminal carboxyl group or both. - exoprotease activity - exopeptidase activity - - - - - - - - - Catalysis of the removal of terminal peptide residues that are substituted, cyclized or linked by isopeptide bonds (peptide linkages other than those of alpha-carboxyl to alpha-amino groups). - peptidase activity, acting on peptides containing modified amino acids - omega peptidase activity + The cellular component assembly that is part of the initial shaping of the component during its developmental progression. + cellular component assembly involved in morphogenesis - + - - - The multiplication or reproduction of cells, resulting in the expansion of a cell population. - cell proliferation + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. + regulation of cell death - + - + - + - + - + - Any process that activates or increases the rate or extent of cell proliferation. - up regulation of cell proliferation - up-regulation of cell proliferation - upregulation of cell proliferation - activation of cell proliferation - stimulation of cell proliferation - positive regulation of cell proliferation + Any process that increases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. + positive regulation of cell death - + - + - + - - + + - + - Any process that stops, prevents or reduces the rate or extent of cell proliferation. - down regulation of cell proliferation - down-regulation of cell proliferation - downregulation of cell proliferation - inhibition of cell proliferation - negative regulation of cell proliferation - - - - - - - - - Interacting selectively and non-covalently with a lipid. - lipid binding + Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. + negative regulation of cell cycle process - + - - + + + + + + + + + + + + + + - - + + - Enables the transfer of cation from one side of a membrane to the other. - transmembrane cation transporter activity - cation transmembrane transporter activity - - - - - - - - - Any process in which the axon of a neuron is insulated, and that insulation maintained, thereby preventing dispersion of the electrical signal. - cellular axon ensheathment - cellular nerve ensheathment - nerve ensheathment - axon ensheathment - - - - - - - - - Catalysis of the transfer of an acyl group to an oxygen atom on the acceptor molecule. - O-acyltransferase activity - - - - - - - - - The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. - pre-mRNA splicing factor activity - RNA splicing - - - - - - - - - Catalysis of the formation of a hydroxyl group on a steroid by incorporation of oxygen from O2. - cytochrome P450 CYP2G1 - olfactory-specific steroid hydroxylase activity - steroid hydroxylase activity + Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. + positive regulation of endopeptidase activity - + - - - - - - - - - + + + + + + + + + + + + + + - - + + - Combining with calcitriol, the hormonally active form of vitamin D3, and transmitting the signal to the transcriptional machinery by interacting selectively and non-covalently with a specific DNA sequence in order to modulate transcription by RNA polymerase II. - vitamin D receptor activity - 1,25-(OH)2D3 receptor activity - 1,25-dihydroxycholecalciferol receptor activity - 1,25-dihydroxyvitamin D3 receptor activity - 1alpha,25(OH)2D3 receptor activity - 1alpha,25-dihydroxyvitamin D3 receptor activity - vitamin D3 receptor activity - calcitriol receptor activity - - - - - - - - - - Catalysis of the transfer of a phosphate group, usually from ATP, to a phosphofructose substrate molecule. - phosphofructokinase activity - - - - - - - - - Catalysis of the reaction: H(2)O + O(2) + sulfite = H(2)O(2) + H(+) + sulfate. - sulfite:oxygen oxidoreductase activity - sulphite oxidase activity - sulfite oxidase activity - - - - - - - - - Catalysis of the transfer of an amino group to an acceptor, usually a 2-oxo acid. - aminotransferase activity - transaminase activity - - - - - - - - - Catalysis of the reaction: RSO-R' + H2O = RSOOH + R'H. This reaction is the hydrolysis of any sulfuric ester bond, any ester formed from sulfuric acid, O=SO(OH)2. - sulfatase activity - sulphuric ester hydrolase activity - sulfuric ester hydrolase activity + Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. + negative regulation of endopeptidase activity - + - - + + + + + + + + + + + + + + + - - + + - Enables the transfer of a negatively charged ion from one side of a membrane to the other. - anion transporter activity - anion transmembrane transporter activity + Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. + positive regulation of peptidase activity - + - - + + + + + + + + + + + + + + + - - + + - Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. - organic anion transmembrane transporter activity - - - - - - - - - - The chemical reactions and pathways resulting in the formation of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. - lipid anabolism - lipid biosynthesis - lipid formation - lipid synthesis - lipogenesis - lipid biosynthetic process - - - - - - - - - - - The chemical reactions and pathways resulting in the formation of ether lipids, lipids that contain (normally) one lipid alcohol in ether linkage to one of the carbon atoms (normally C-1) of glycerol. - ether lipid anabolism - ether lipid biosynthesis - ether lipid formation - ether lipid synthesis - plasmalogen biosynthetic process - ether lipid biosynthetic process - - - - - - - - - - - - The chemical reactions and pathways involving pyridoxine, 2-methyl-3-hydroxy-4,5-bis(hydroxymethyl)pyridine, one of the vitamin B6 compounds. Pyridoxal, pyridoxamine and pyridoxine are collectively known as vitamin B6, and are efficiently converted to the biologically active form of vitamin B6, pyridoxal phosphate. - pyridoxine metabolism - pyridoxine metabolic process - - - - - - - - - The directed movement of carbohydrate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Carbohydrates are any of a group of organic compounds based of the general formula Cx(H2O)y. - sugar transport - carbohydrate transport - - - - - - - - - The process in which hexose is transported across a membrane. Hexoses are any aldoses with a chain of six carbon atoms in the molecule. - high-affinity hexose transport - low-affinity hexose transport - hexose membrane transport - hexose transport - hexose transmembrane transport - - - - - - - - - - - The chemical reactions and pathways resulting in the formation of amino acids, organic acids containing one or more amino substituents. - amino acid biosynthetic process - cellular amino acid anabolism - cellular amino acid biosynthesis - cellular amino acid formation - cellular amino acid synthesis - cellular amino acid biosynthetic process - - - - - - - - - - - - The chemical reactions and pathways resulting in the formation of phospholipids, any lipid containing phosphoric acid as a mono- or diester. - phospholipid anabolism - phospholipid biosynthesis - phospholipid formation - phospholipid synthesis - phospholipid biosynthetic process + Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage. + positive regulation of protein maturation by peptide bond cleavage + positive regulation of protein processing - + - - - The chemical reactions and pathways resulting in the breakdown of substances, including the breakdown of carbon compounds with the liberation of energy for use by the cell or organism. - breakdown - catabolism - degradation - multicellular organismal catabolic process - single-organism catabolic process - catabolic process + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage. + negative regulation of protein maturation by peptide bond cleavage + negative regulation of protein processing - + - - - - The chemical reactions and pathways resulting in the breakdown of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - biopolymer catabolic process - macromolecule breakdown - macromolecule catabolism - macromolecule degradation - multicellular organismal macromolecule catabolic process - macromolecule catabolic process + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). + negative regulation of vitamin D biosynthetic process - + - - - The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones. - formation - anabolism - biosynthesis - synthesis - multicellular organismal biosynthetic process - single-organism biosynthetic process - biosynthetic process + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of metal ion transport - + - - - - The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - biopolymer biosynthetic process - macromolecule anabolism - macromolecule biosynthesis - macromolecule formation - macromolecule synthesis - macromolecule biosynthetic process + + + + The movement of organelles or other particles from one location in the cell to another along microtubules, driven by motor activity. + microtubule-based transport + establishment of localization by movement along microtubule + movement along microtubule + transport along microtubule - + - - - The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which requires oxygen as the terminal electron acceptor. - aerobic respiration + + + + + + + + + A process which begins when a cell receives an internal or external signal and activates a series of biochemical events (signaling pathway). The process ends with the death of the cell. + regulated cell death + caspase-independent cell death + non-apoptotic programmed cell death + nonapoptotic programmed cell death + PCD + RCD + caspase-independent apoptosis + programmed cell death - + - - - - - The chemical reactions and pathways resulting in the breakdown of amino acids, organic acids containing one or more amino substituents. - amino acid catabolic process - cellular amino acid breakdown - cellular amino acid catabolism - cellular amino acid degradation - cellular amino acid catabolic process + + + + + + + + + + + + + + + A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. + endomembrane system - + - - - The chemical reactions and pathways involving amino acids of the glutamine family, comprising arginine, glutamate, glutamine and proline. - glutamine family amino acid metabolism - glutamine family amino acid metabolic process + + + + + + + + + The lipid bilayer surrounding any membrane-bounded vesicle in the cell. + vesicle membrane - + - - - The chemical reactions and pathways involving amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. - aspartate family amino acid metabolism - aspartate family amino acid metabolic process + + + + + + + + + The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. + primary neural tube morphogenesis + primary neurulation + primary neural tube formation - + - - - The chemical reactions and pathways involving amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. - serine family amino acid metabolism - serine family amino acid metabolic process + + + + + + + + + The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. + mesenchymal cell development - + - - - - The chemical reactions and pathways resulting in the formation of amino acids of the serine family, comprising cysteine, glycine, homoserine, selenocysteine and serine. - serine family amino acid anabolism - serine family amino acid biosynthesis - serine family amino acid formation - serine family amino acid synthesis - serine family amino acid biosynthetic process + + + + + + + + + + The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. + neural crest cell development - + - - - - - The chemical reactions and pathways involving aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). - aromatic amino acid family metabolism - aromatic amino acid family metabolic process + + + + The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. + neural crest cell differentiation - + - - - - - - The chemical reactions and pathways resulting in the breakdown of aromatic amino acid family, amino acids with aromatic ring (phenylalanine, tyrosine, tryptophan). - aromatic amino acid family breakdown - aromatic amino acid family catabolism - aromatic amino acid family degradation - aromatic amino acid family catabolic process + + + + The regulated release of dopamine by a cell. Dopamine is a catecholamine and a precursor of adrenaline and noradrenaline. It acts as a neurotransmitter in the central nervous system but it is also produced peripherally and acts as a hormone. + dopamine secretion - + - - - The chemical reactions and pathways involving amino acids containing a branched carbon skeleton, comprising isoleucine, leucine and valine. - branched chain family amino acid metabolism - branched-chain amino acid metabolic process + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of dopamine. + regulation of dopamine secretion - + - - - - - The chemical reactions and pathways involving glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. - glycoprotein metabolism - glycoprotein metabolic process + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of serotonin. + regulation of serotonin release + regulation of serotonin secretion - + - - - - - - The chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. - glycoprotein anabolism - glycoprotein biosynthesis - glycoprotein formation - glycoprotein synthesis - glycoprotein biosynthetic process + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of serotonin. + down regulation of serotonin secretion + down-regulation of serotonin secretion + downregulation of serotonin secretion + inhibition of serotonin secretion + positive regulation of serotonin release + negative regulation of serotonin secretion - + - - - - - - - The chemical reactions and pathways involving lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. - lipoate metabolism - lipoic acid metabolic process - lipoic acid metabolism - lipoate metabolic process + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the regulated release of serotonin. + up regulation of serotonin secretion + up-regulation of serotonin secretion + upregulation of serotonin secretion + activation of serotonin secretion + stimulation of serotonin secretion + positive regulation of serotonin release + positive regulation of serotonin secretion - + - - - - - - - - The chemical reactions and pathways resulting in the formation of lipoate, 1,2-dithiolane-3-pentanoate, the anion derived from lipoic acid. - lipoate anabolism - lipoate biosynthesis - lipoate formation - lipoate synthesis - lipoic acid anabolism - lipoic acid biosynthesis - lipoic acid biosynthetic process - lipoic acid formation - lipoic acid synthesis - lipoate biosynthetic process + + + 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 organic cyclic compound stimulus. + response to organic cyclic substance + response to organic cyclic compound - + - - - - The chemical reactions and pathways resulting in the formation of coenzymes, any of various nonprotein organic cofactors that are required, in addition to an enzyme and a substrate, for an enzymatic reaction to proceed. - coenzyme and prosthetic group biosynthesis - coenzyme and prosthetic group biosynthetic process - coenzyme anabolism - coenzyme biosynthesis - coenzyme formation - coenzyme synthesis - coenzyme biosynthetic process + + + The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells. + striated muscle tissue development - + - - - - - The chemical reactions and pathways resulting in the formation of a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. - vitamin anabolism - vitamin biosynthesis - vitamin formation - vitamin synthesis - vitamin biosynthetic process + + + + The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + enzyme transport + protein transport - + - - - - The chemical reactions and pathways involving a nucleobase, a nitrogenous base that is a constituent of a nucleic acid, e.g. the purines: adenine, guanine, hypoxanthine, xanthine and the pyrimidines: cytosine, uracil, thymine. - nucleobase metabolism - nucleobase metabolic process + + + + + + + + + Enables the transfer of an ion from one side of a membrane to the other. + ion transporter activity + ion transmembrane transporter activity - + - - - The chemical reactions and pathways involving a nucleotide, a nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic nucleotides (nucleoside cyclic phosphates). - nucleotide metabolism - nucleotide metabolic process + + + + + + + + + Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. + calcium ion transmembrane transporter activity - + - - - The chemical reactions and pathways involving a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. - nucleoside monophosphate metabolism - nucleoside monophosphate metabolic process + + + + + + + + + + Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. + inorganic anion transmembrane transporter activity - + - - - - The chemical reactions and pathways resulting in the formation of a nucleoside monophosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with phosphate on the sugar. - nucleoside monophosphate anabolism - nucleoside monophosphate biosynthesis - nucleoside monophosphate formation - nucleoside monophosphate synthesis - nucleoside monophosphate biosynthetic process + + + + + + + + + Enables the transfer of chloride ions from one side of a membrane to the other. + chloride ion transmembrane transporter activity + chloride transmembrane transporter activity - + - - - The chemical reactions and pathways involving purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. - purine nucleoside monophosphate metabolism - purine nucleoside monophosphate metabolic process + + + + + + + + + + Enables the transfer of sialic acid from one side of a membrane to the other. + sialic acid transmembrane transporter activity - + - - - - The chemical reactions and pathways resulting in the formation of purine nucleoside monophosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with phosphate on the sugar. - purine nucleoside monophosphate anabolism - purine nucleoside monophosphate biosynthesis - purine nucleoside monophosphate formation - purine nucleoside monophosphate synthesis - purine nucleoside monophosphate biosynthetic process + + + + + + + + + Enables the transfer of a drug from one side of a membrane to the other. A drug is any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease. + drug transporter activity + multidrug efflux pump activity + multidrug transporter activity + multidrug, alkane resistant pump activity + drug transmembrane transporter activity - + - - - The chemical reactions and pathways involving a nucleoside diphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with diphosphate on the sugar. - nucleoside diphosphate metabolism - nucleoside diphosphate metabolic process + + + Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. + pore activity + channel/pore class transporter activity + nonselective channel activity + alpha-type channel activity + channel-forming toxin activity + pore class transporter activity + channel activity - + - - - The chemical reactions and pathways involving purine nucleoside diphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with diphosphate on the sugar. - purine nucleoside diphosphate metabolism - purine nucleoside diphosphate metabolic process + + + + + Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. + ionotropic receptor activity + ligand-gated ion channel activity - + - - - The chemical reactions and pathways involving a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. - nucleoside triphosphate metabolism - nucleoside triphosphate metabolic process + + + Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. + inorganic solute uptake transmembrane transporter activity + inorganic uptake permease activity + inorganic molecular entity transmembrane transporter activity - + - - - - The chemical reactions and pathways resulting in the formation of a nucleoside triphosphate, a compound consisting of a nucleobase linked to a deoxyribose or ribose sugar esterified with triphosphate on the sugar. - nucleoside triphosphate anabolism - nucleoside triphosphate biosynthesis - nucleoside triphosphate formation - nucleoside triphosphate synthesis - nucleoside triphosphate biosynthetic process + + + The directed movement of substances that are gaseous in normal living conditions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + gas transport - + - - - The chemical reactions and pathways involving purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. - purine nucleoside triphosphate metabolism - purine nucleoside triphosphate metabolic process + + + + The directed movement of oxygen (O2) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + oxygen transport - + - - - - The chemical reactions and pathways resulting in the formation of purine nucleoside triphosphate, a compound consisting of a purine base linked to a ribose or deoxyribose sugar esterified with triphosphate on the sugar. - purine nucleoside triphosphate anabolism - purine nucleoside triphosphate biosynthesis - purine nucleoside triphosphate formation - purine nucleoside triphosphate synthesis - purine nucleoside triphosphate biosynthetic process + + + The directed movement of inorganic cations with a valency of one into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic cations are atoms or small molecules with a positive charge which do not contain carbon in covalent linkage. + monovalent inorganic cation transport - + - - - - The chemical reactions and pathways involving a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. - purine ribonucleotide metabolism - purine ribonucleotide metabolic process + + + The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + magnesium transport + magnesium ion transport - + - - - - - The chemical reactions and pathways resulting in the formation of a purine ribonucleotide, a compound consisting of ribonucleoside (a purine base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. - purine ribonucleotide anabolism - purine ribonucleotide biosynthesis - purine ribonucleotide formation - purine ribonucleotide synthesis - purine ribonucleotide biosynthetic process + + + + The directed movement of ammonium into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Ammonium is the cation NH4+ which is formed from N2 by root-nodule bacteria in leguminous plants and is an excretory product in ammonotelic animals. + ammonia transport + ammonium transport - + - - - - The chemical reactions and pathways resulting in the formation of a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. - ribonucleoside monophosphate anabolism - ribonucleoside monophosphate biosynthesis - ribonucleoside monophosphate formation - ribonucleoside monophosphate synthesis - ribonucleoside monophosphate biosynthetic process + + + The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. + inorganic anion transport - + - - - The chemical reactions and pathways involving a ribonucleoside monophosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with phosphate on the sugar. - ribonucleoside monophosphate metabolism - ribonucleoside monophosphate metabolic process + + + + The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. + organic anion transport - - - - - - The chemical reactions and pathways resulting in the formation of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). - nucleotide anabolism - nucleotide biosynthesis - nucleotide formation - nucleotide synthesis - nucleotide biosynthetic process + + + + + + The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + bilirubin transport - + - - - - The chemical reactions and pathways resulting in the breakdown of nucleotides, any nucleoside that is esterified with (ortho)phosphate or an oligophosphate at any hydroxyl group on the glycose moiety; may be mono-, di- or triphosphate; this definition includes cyclic-nucleotides (nucleoside cyclic phosphates). - nucleotide breakdown - nucleotide catabolism - nucleotide degradation - nucleotide catabolic process + + + + The directed movement of sialic acid into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + sialic acid transport - + - - - - The chemical reactions and pathways involving purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. - purine ribonucleoside monophosphate metabolism - purine ribonucleoside monophosphate metabolic process + + + The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. + monosaccharide transport + monosaccharide transmembrane transport - + - - - - - The chemical reactions and pathways resulting in the formation of purine ribonucleoside monophosphate, a compound consisting of a purine base linked to a ribose sugar esterified with phosphate on the sugar. - purine ribonucleoside monophosphate anabolism - purine ribonucleoside monophosphate biosynthesis - purine ribonucleoside monophosphate formation - purine ribonucleoside monophosphate synthesis - purine ribonucleoside monophosphate biosynthetic process + + + true - + - - - - The chemical reactions and pathways involving purine ribonucleoside diphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with diphosphate on the sugar. - purine ribonucleoside diphosphate metabolism - purine ribonucleoside diphosphate metabolic process + + + The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + neutral amino acid transport - + - - - The chemical reactions and pathways involving a ribonucleoside diphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with diphosphate on the sugar. - ribonucleoside diphosphate metabolism - ribonucleoside diphosphate metabolic process + + + + The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + peptide transport - + - - - The chemical reactions and pathways involving a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. - ribonucleoside triphosphate metabolism - ribonucleoside triphosphate metabolic process + + + + The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + amine/polyamine transport + amine transport - + - - - - The chemical reactions and pathways resulting in the formation of a ribonucleoside triphosphate, a compound consisting of a nucleobase linked to a ribose sugar esterified with triphosphate on the sugar. - ribonucleoside triphosphate anabolism - ribonucleoside triphosphate biosynthesis - ribonucleoside triphosphate formation - ribonucleoside triphosphate synthesis - ribonucleoside triphosphate biosynthetic process + + + + The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + monoamine transport - + - - - - The chemical reactions and pathways involving purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. - purine ribonucleoside triphosphate metabolism - purine ribonucleoside triphosphate metabolic process + + + The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + organic acid transport - + - - - - - The chemical reactions and pathways resulting in the formation of purine ribonucleoside triphosphate, a compound consisting of a purine base linked to a ribose sugar esterified with triphosphate on the sugar. - purine ribonucleoside triphosphate anabolism - purine ribonucleoside triphosphate biosynthesis - purine ribonucleoside triphosphate formation - purine ribonucleoside triphosphate synthesis - purine ribonucleoside triphosphate biosynthetic process + + + The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. + organic alcohol transport + organic hydroxy compound transport - + - - - - - - The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom. - cobalamin metabolism - vitamin B12 metabolic process - vitamin B12 metabolism - vitamin B12 reduction - cobalamin metabolic process + + + + + The directed movement of dopamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Dopamine is a catecholamine neurotransmitter and a metabolic precursor of noradrenaline and adrenaline. + dopamine transport - + - - - - - The chemical reactions and pathways resulting in the formation of glycolipid, a class of 1,2-di-O-acylglycerols joined at oxygen 3 by a glycosidic linkage to a carbohydrate part (usually a mono-, di- or tri-saccharide). - glycolipid anabolism - glycolipid biosynthesis - glycolipid formation - glycolipid synthesis - glycolipid biosynthetic process + + + + + + The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. + thiamin transport + vitamin B1 transport + thiamine transport - + - - - - The chemical reactions and pathways involving a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. - ribonucleotide metabolism - ribonucleotide metabolic process + + + + + + + The directed movement of cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + vitamin B12 transport + cobalamin transport - + - - - - - The chemical reactions and pathways resulting in the formation of a ribonucleotide, a compound consisting of ribonucleoside (a base linked to a ribose sugar) esterified with a phosphate group at either the 3' or 5'-hydroxyl group of the sugar. - ribonucleotide anabolism - ribonucleotide biosynthesis - ribonucleotide formation - ribonucleotide synthesis - ribonucleotide biosynthetic process + + + + + + + + + The directed movement of a drug, a substance used in the diagnosis, treatment or prevention of a disease, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + drug transport - + - - - The region of a virus, bacterial cell, mitochondrion or chloroplast to which the nucleic acid is confined. - nucleoid + + + Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. + galactosidase activity - + - - - The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. - amine metabolism - amine metabolic process + + + Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative. + glucosidase activity - + - - - The chemical reactions and pathways involving oligosaccharides, molecules with between two and (about) 20 monosaccharide residues connected by glycosidic linkages. - oligosaccharide metabolism - multicellular organismal oligosaccharide metabolic process - oligosaccharide metabolic process + + + Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides. + hexosaminidase activity - + - - - 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 electromagnetic radiation stimulus. Electromagnetic radiation is a propagating wave in space with electric and magnetic components. These components oscillate at right angles to each other and to the direction of propagation. - response to electromagnetic radiation stimulus - response to radiation stimulus - response to radiation + + + + The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. + chemoorganotrophy + energy derivation by oxidation of organic compounds - + - - - 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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. - response to UV light stimulus - response to UV radiation stimulus - response to ultraviolet light stimulus - response to ultraviolet radiation stimulus - response to UV + + + The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. + energy coupled proton transport, down electrochemical gradient - + - - - 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 light stimulus, electromagnetic radiation of wavelengths classified as infrared, visible or ultraviolet light. - response to light stimulus + + + + The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. + chemiosmosis + ATP synthesis coupled proton transport - + - - - - - The chemical reactions and pathways involving gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. - 4-aminobutanoate metabolic process - 4-aminobutanoate metabolism - 4-aminobutyrate metabolic process - 4-aminobutyrate metabolism - GABA metabolic process - GABA metabolism - gamma-aminobutyric acid metabolism - gamma-aminobutyric acid metabolic process + + + + A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. + DGC + dystrophin glycoprotein complex + dystrophin-associated glycoprotein complex - + - - - - - - The chemical reactions and pathways resulting in the breakdown of gamma-aminobutyric acid (GABA, 4-aminobutyrate), an amino acid which acts as a neurotransmitter in some organisms. - 4-aminobutanoate catabolic process - 4-aminobutanoate catabolism - 4-aminobutyrate catabolic process - 4-aminobutyrate catabolism - GABA catabolic process - GABA catabolism - gamma-aminobutyric acid breakdown - gamma-aminobutyric acid catabolism - gamma-aminobutyric acid degradation - gamma-aminobutyric acid catabolic process + + + + + + + + + A protein complex that includes alpha- and beta-dystroglycan, which are alternative products of the same gene; the laminin-binding component of the dystrophin-associated glycoprotein complex, providing a link between the subsarcolemmal cytoskeleton (in muscle cells) and the extracellular matrix. Alpha-dystroglycan is an extracellular protein binding to alpha-laminin and to beta-dystroglycan; beta-dystroglycan is a transmembrane protein which binds alpha-dystroglycan and dystrophin. + dystroglycan complex - + - - + + - + - The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy). - syngamy - fertilization + A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex. + sarcoglycan-sarcospan complex + sarcoglycan complex - + - - - 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 external stimulus. - response to environmental stimulus - response to external stimulus + + + A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. + membrane - + - - - 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 stimulus indicating damage to the organism. - physiological response to wounding - response to wounding + + + The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. + integral to membrane + transmembrane + integral component of membrane - + - - - 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 abiotic (non-living) stimulus. - response to abiotic stress - response to abiotic stimulus + + + + The chemical reactions and pathways resulting in the breakdown of lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. + lipid breakdown + lipid catabolism + lipid degradation + lipolysis + multicellular organism lipid catabolic process + multicellular organismal lipid catabolic process + lipid catabolic process - + - - - 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 toxic stimulus. - detoxification response - toxin resistance - toxin susceptibility/resistance - response to toxic substance + + + + A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. + cell organisation + cellular component organisation at cellular level + cellular component organisation in other organism + cellular component organization at cellular level + cellular component organization in other organism + cell organization and biogenesis + cellular component organization - + - - - - - - - - - The process in which anatomical structures are generated and organized. Morphogenesis pertains to the creation of form. - embryogenesis and morphogenesis - anatomical structure organization - morphogenesis - anatomical structure morphogenesis + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. + vesicle organisation + vesicle organization and biogenesis + vesicle organization - + - - - The chemical reactions and pathways involving a compound containing a pyrocatechol (1,2-benzenediol) nucleus or substituent. - catechol metabolic process - catechol metabolism - catechol-containing compound metabolic process + + + + The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. + anabolic carbohydrate metabolic process + anabolic carbohydrate metabolism + carbohydrate anabolism + carbohydrate biosynthesis + carbohydrate formation + carbohydrate synthesis + carbohydrate biosynthetic process - + - - - - The chemical reactions and pathways resulting in the formation of catechol-containing compounds. Catechol is a compound containing a pyrocatechol nucleus or substituent. - catechol anabolism - catechol biosynthesis - catechol biosynthetic process - catechol formation - catechol synthesis - catechol-containing compound biosynthetic process + + + + The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. + carbohydrate breakdown + carbohydrate catabolism + carbohydrate degradation + catabolic carbohydrate metabolic process + catabolic carbohydrate metabolism + multicellular organismal carbohydrate catabolic process + single-organism carbohydrate catabolic process + carbohydrate catabolic process - + - - - 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 stimulus arising within the organism. - response to endogenous stimulus + + + + + + The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. + organic acid anabolism + organic acid biosynthesis + organic acid formation + organic acid synthesis + organic acid biosynthetic process - + - - - - 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 hormone stimulus. - response to hormone stimulus - growth regulator - response to hormone + + + + + + The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. + organic acid breakdown + organic acid catabolism + organic acid degradation + organic acid catabolic process - + - - - - - - - - - A series of molecular signals mediated by the detection of a hormone. - hormone mediated signalling - hormone-mediated signaling pathway + + + An immune response mediated by immunoglobulins, whether cell-bound or in solution. + antibody-mediated immune response + immunoglobulin mediated immune response + + + + + + + + + + An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines. + immediate hypersensitivity response + type I hypersensitivity - + - - - The process whose specific outcome is the progression of an embryo from its formation until the end of its embryonic life stage. The end of the embryonic stage is organism-specific. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. - embryogenesis and morphogenesis - embryogenesis - embryonal development - embryo development + + + The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. + RNA metabolism + RNA metabolic process - + - - - The process whose specific outcome is the progression of an embryo over time, from zygote formation until the end of the embryonic life stage. The end of the embryonic life stage is organism-specific and may be somewhat arbitrary; for mammals it is usually considered to be birth, for insects the hatching of the first instar larva from the eggshell. - embryogenesis - embryo development ending in birth or egg hatching + + + The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. + diterpenoid metabolism + diterpene metabolic process + diterpene metabolism + diterpenoid metabolic process - + - - - - - - - - - Morphogenesis of an animal organ. An organ is defined as a tissue or set of tissues that work together to perform a specific function or functions. Morphogenesis is the process in which anatomical structures are generated and organized. Organs are commonly observed as visibly distinct structures, but may also exist as loosely associated clusters of cells that work together to perform a specific function or functions. - histogenesis and organogenesis - animal organ morphogenesis + + + The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units. + tetraterpenoid metabolism + tetraterpene metabolic process + tetraterpene metabolism + tetraterpenoid metabolic process - + - - - The process whose specific outcome is the progression of a tissue over time, from its formation to the mature structure. - histogenesis and organogenesis - histogenesis - tissue development + + + The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail. + carotenoid metabolism + carotenoid metabolic process - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. - regulation of anabolism - regulation of biosynthesis - regulation of formation - regulation of synthesis - regulation of biosynthetic process + + + + The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. + sterol metabolism + sterol metabolic process - + - - - - - - - - - - - - - - - - - - - - - Any process that stops, prevents, or reduces the rate of the chemical reactions and pathways resulting in the formation of substances. - down regulation of biosynthetic process - down-regulation of biosynthetic process - downregulation of biosynthetic process - negative regulation of anabolism - negative regulation of biosynthesis - negative regulation of formation - negative regulation of synthesis - inhibition of biosynthetic process - negative regulation of biosynthetic process + + + + + The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. + sterol anabolism + sterol biosynthesis + sterol formation + sterol synthesis + sterol biosynthetic process - + - - - - - - - - - - - - - - - - - - - - - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances. - positive regulation of anabolism - positive regulation of biosynthesis - positive regulation of formation - positive regulation of synthesis - up regulation of biosynthetic process - up-regulation of biosynthetic process - upregulation of biosynthetic process - activation of biosynthetic process - stimulation of biosynthetic process - positive regulation of biosynthetic process + + + Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-. + cytochrome B-245 + superoxide-generating NADPH oxidase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. - down regulation of metabolic process - down-regulation of metabolic process - downregulation of metabolic process - negative regulation of metabolism - negative regulation of organismal metabolism - inhibition of metabolic process - inhibition of organismal metabolic process - negative regulation of multicellular organismal metabolic process - negative regulation of metabolic process + + + A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. + vesicle transport + vesicular transport + nonselective vesicle transport + protein sorting along secretory pathway + vesicle trafficking + vesicle-mediated transport - + - + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. - positive regulation of metabolism - up regulation of metabolic process - up-regulation of metabolic process - upregulation of metabolic process - activation of metabolic process - positive regulation of multicellular organismal metabolic process - positive regulation of organismal metabolism - stimulation of metabolic process - stimulation of organismal metabolic process - up-regulation of organismal metabolic process - positive regulation of metabolic process + Any process that modulates the frequency, rate or extent of striated muscle development. + regulation of striated muscle tissue development - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of substances. - regulation of breakdown - regulation of catabolism - regulation of degradation - regulation of catabolic process + Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage. + antioxidant activity - + - - - - - - - - - - - - - - - - - - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. - down regulation of catabolic process - down-regulation of catabolic process - downregulation of catabolic process - negative regulation of breakdown - negative regulation of catabolism - negative regulation of degradation - inhibition of catabolic process - negative regulation of catabolic process + + + Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate. + 2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase) + N-sulfo-D-glucosamine sulfohydrolase activity + N-sulphoglucosamine sulphohydrolase activity + heparin sulfamidase activity + sulfoglucosamine sulfamidase activity + sulphamidase activity + N-sulfoglucosamine sulfohydrolase activity - + - - - - - - - - - - - - - - + + - - + + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances. - positive regulation of breakdown - positive regulation of catabolism - positive regulation of degradation - up regulation of catabolic process - up-regulation of catabolic process - upregulation of catabolic process - activation of catabolic process - stimulation of catabolic process - positive regulation of catabolic process + Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. + phosphokinase activity + kinase activity - + - - - - The directed movement of hormones into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - hormone transport + + + 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. + phosphorylation - + - - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of signal transduction. - regulation of signaling pathway - regulation of signalling pathway - regulation of signal transduction + + + + The process in which the anatomical structures of embryonic epithelia are generated and organized. + morphogenesis of embryonic epithelium - + - - - - - - - - - - - - - - - - - - - - - - - Any process that activates or increases the frequency, rate or extent of signal transduction. - up regulation of signal transduction - up-regulation of signal transduction - upregulation of signal transduction - activation of signal transduction - stimulation of signal transduction - positive regulation of signaling pathway - positive regulation of signalling pathway - positive regulation of signal transduction + + + Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. + carnitine O-acyltransferase activity - + - - - - - - - - - - - - - - - - - - - - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. - down regulation of signal transduction - down-regulation of signal transduction - downregulation of signal transduction - inhibition of signal transduction - negative regulation of signaling pathway - negative regulation of signalling pathway - negative regulation of signal transduction + + + Catalysis of the transfer of an acetyl group to an acceptor molecule. + acetylase activity + acetyltransferase activity - + - - - Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level. - cell physiology - cellular physiological process - cell growth and/or maintenance - single-organism cellular process - cellular process + + + Catalysis of the transfer of an acyl group to a carbon atom on the acceptor molecule. + C-acyltransferase activity - + - - - 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 extracellular stimulus. - response to extracellular stimulus + + + Catalysis of the transfer of a palmitoyl (CH3-[CH2]14-CO-) group to an acceptor molecule. + palmitoyltransferase activity - + - - - 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 organic substance stimulus. - response to organic substance + + + Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule. + N-acyltransferase activity - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of proton transport into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of proton transport + + + + Catalysis of the transfer of an acetyl group to an oxygen atom on the acceptor molecule. + O-acetyltransferase activity + + + + + + + + + Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. + CoA carboxylase activity - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of cellular defense response. - regulation of cellular defence response - regulation of cellular defense response + + + Recombination occurring within or between DNA molecules in somatic cells. + somatic cell DNA recombination - + - - - - - - - - - - - - - - + + - - + + - Any process that activates or increases the frequency, rate or extent of cellular defense response. - positive regulation of cellular defence response - up regulation of cellular defense response - up-regulation of cellular defense response - upregulation of cellular defense response - activation of cellular defense response - stimulation of cellular defense response - positive regulation of cellular defense response + The somatic process that results in the generation of sequence diversity of immunoglobulins. + somatic diversification of antibodies + somatic diversification of immunoglobulins - + - - - A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endomembrane system. - endomembrane organization - endomembrane system organisation - endomembrane system organization + + + + The process in which immunoglobulin genes are formed through recombination of the germline genetic elements, as known as immunoglobulin gene segments, within a single locus. + somatic recombination of antibody gene segments + somatic recombination of immunoglobulin gene segments - + - - - - An aging process that has as participant a whole multicellular organism. Multicellular organism aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Multicellular organisms aging includes processes like cellular senescence and organ senescence, but is more inclusive. May precede death (GO:0016265) of an organism and may succeed developmental maturation (GO:0021700). - multicellular organism aging + + + + Catalysis of the transfer of a palmitoyl group to a carbon atom on the acceptor molecule. + C-palmitoyltransferase activity - + - - - The infolding of a membrane. - single-organism membrane invagination - membrane invagination + + + A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. + hydrogen-transporting two-sector ATPase complex + vacuolar hydrogen-transporting ATPase + proton-transporting two-sector ATPase complex - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. - regulation of cell fate commitment + + + The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. + cell migration - + - + - + - - + + - - + - - + + - Any process that stops, prevents or reduces the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. - negative regulation of cell fate commitment + The directed movement of substances or organelles within the cytosol. + cytosolic transport - + - - - - - - - - - - - - - - - - - - - - - Any process that activates, maintains or increases the frequency or rate of cell fate commitment. Cell fate commitment is the commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. - positive regulation of cell fate commitment + + + + Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. + protein maturation by peptide bond cleavage + protein maturation by peptide bond hydrolysis + peptidolysis during protein maturation + protein maturation by proteolysis + protein processing - + - - - - - - - - - - - - - - - + + - - + + - Any process that stops or reduces the rate of peptidase activity, the hydrolysis of peptide bonds within proteins. - negative regulation of peptidase activity + Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. + redox activity + oxidoreductase activity, acting on other substrates + oxidoreductase activity - + - - - The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. - gene expression + + + Interacting selectively and non-covalently with glutamate, the anion of 2-aminopentanedioic acid. + glutamic acid binding + glutamate binding - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. - regulation of protein expression - regulation of gene product expression - regulation of gene expression + + + Interacting selectively and non-covalently with an amino acid, organic acids containing one or more amino substituents. + amino acid binding - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of a signaling receptor activity. Receptor activity is when a molecule combines with an extracellular or intracellular messenger to initiate a change in cell activity. - regulation of receptor activity - regulation of signaling receptor activity + + + Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. + oxidoreductase activity, acting on the CH-OH group of donors, other acceptors + oxidoreductase activity, acting on CH-OH group of donors - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. - regulation of phosphatidylinositol biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. + oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. - negative regulation of phosphatidylinositol biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. + oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of phosphatidylinositol. - positive regulation of phosphatidylinositol biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. + oxidoreductase activity, acting on the CH-CH group of donors, other acceptors + oxidoreductase activity, acting on the CH-CH group of donors - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - regulation of macromolecule biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. + oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor - + - - - - - - - - - - - - - - - - - - - - - - Any process that increases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - positive regulation of macromolecule biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. + oxidoreductase activity, acting on the CH-NH group of donors, other acceptors + oxidoreductase activity, acting on the CH-NH group of donors - + - - - - - - - - - - - - - - - - - - - - - - Any process that decreases the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - negative regulation of macromolecule biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP. + oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. - regulation of glycoprotein biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. + NAD(P)H dehydrogenase + oxidoreductase activity, acting on NADH or NADPH, other acceptor + oxidoreductase activity, acting on NADH or NADPH + oxidoreductase activity, acting on NAD(P)H - + - - - - - - - - - - - - - - - - - - - - - - - Any process that increases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. - positive regulation of glycoprotein biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. + oxidoreductase activity, acting on sulphur group of donors + oxidoreductase activity, acting on sulfur group of donors, other acceptors + oxidoreductase activity, acting on a sulfur group of donors + + + + + + + + + Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. + oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor + oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor + + + + + + + + + Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. + oxidoreductase activity, acting on peroxide as acceptor - + - - - - - - - - - - - - - - - - - - - - - - Any process that decreases the rate, frequency, or extent of the chemical reactions and pathways resulting in the formation of glycoproteins, any protein that contains covalently bound glycose (i.e. monosaccharide) residues; the glycose occurs most commonly as oligosaccharide or fairly small polysaccharide but occasionally as monosaccharide. - negative regulation of glycoprotein biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor. + oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous + oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. - positive regulation of phosphorus metabolic process + + + Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. + transferase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving phosphorus or compounds containing phosphorus. - negative regulation of phosphorus metabolic process + + + Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). + acyltransferase activity + transferase activity, transferring acyl groups - + - - - - - - - - - - - - - - - - - - - - Any process that modulates a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. - regulation of cell cycle process + + + Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). + transferase activity, transferring groups other than amino-acyl groups + transferase activity, transferring acyl groups other than amino-acyl groups - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. - regulation of cellular ketone metabolic process + + + + Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor). + aminoacyltransferase activity + transferase activity, transferring amino-acyl groups - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of a ketone, carried out by individual cells. - regulation of ketone biosynthetic process + + + Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). + glycosyltransferase activity + transglycosidase activity + transglycosylase activity + transferase activity, transferring other glycosyl groups + transferase activity, transferring glycosyl groups - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - positive regulation of macromolecule metabolic process + + + Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). + transferase activity, transferring alkyl or aryl groups, other than methyl groups + transferase activity, transferring alkyl or aryl (other than methyl) groups - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - negative regulation of macromolecule metabolic process + + + Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). + transferase activity, transferring other nitrogenous groups + transferase activity, transferring nitrogenous groups - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. - positive regulation of gene expression + + + Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). + transferase activity, transferring phosphorus-containing groups - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA or circRNA (for protein-coding genes) and the translation of that mRNA or circRNA into protein. Protein maturation is included when required to form an active form of a product from an inactive precursor form. - negative regulation of gene expression + + + Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). + phosphotransferase activity, alcohol group as acceptor - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. - positive regulation of organelle organisation - positive regulation of organelle organization and biogenesis - positive regulation of organelle organization + + + Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor). + phosphotransferase activity, carboxyl group as acceptor - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. - negative regulation of organelle organisation - negative regulation of organelle organization and biogenesis - negative regulation of organelle organization + + + Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). + diphosphotransferase activity - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. - regulation of cell communication + + + Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. + hydrolase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. - positive regulation of cell communication + + + Catalysis of the hydrolysis of any ester bond. + esterase activity + hydrolase activity, acting on ester bonds - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of cell communication. Cell communication is the process that mediates interactions between a cell and its surroundings. Encompasses interactions such as signaling or attachment between one cell and another cell, between a cell and an extracellular matrix, or between a cell and any other aspect of its environment. - negative regulation of cell communication + + + Catalysis of the hydrolysis of any glycosyl bond. + glycosidase activity + N-glycosylase + glycosylase + hydrolase activity, acting on glycosyl bonds - + - - - A tissue homeostatic process required for the maintenance of epithelial structure. - epithelial structure maintenance + + + Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. + hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds + hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds - + - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. - regulation of transcription from RNA polymerase II promoter, meiotic - regulation of meiosis by regulation of transcription from RNA polymerase II promoter - regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle + + + Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide. + hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides - + - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. - positive regulation of transcription from RNA polymerase II promoter, meiotic - activation of meiosis by positive regulation of transcription from RNA polymerase II promoter - positive regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter - stimulation of meiosis by positive regulation of transcription from RNA polymerase II promoter - up regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter - up-regulation of meiosis by positive regulation of transcription from RNA polymerase II promoter - upregulation of meiosis by positive regulation of transcription from RNA polymerase II promoter - positive regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle + + + Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide. + hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides + + + + + + + + + Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2. + hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines + + + + + + + + + Catalysis of the hydrolysis of any acid sulfur-nitrogen bond. + hydrolase activity, acting on acid sulphur-nitrogen bonds + hydrolase activity, acting on acid sulfur-nitrogen bonds - + - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as part of the meiotic cell cycle. - negative regulation of transcription from RNA polymerase II promoter, meiotic - activation of meiosis by negative regulation of transcription from RNA polymerase II promoter - positive regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter - stimulation of meiosis by negative regulation of transcription from RNA polymerase II promoter - up regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter - up-regulation of meiosis by negative regulation of transcription from RNA polymerase II promoter - upregulation of meiosis by negative regulation of transcription from RNA polymerase II promoter - negative regulation of transcription from RNA polymerase II promoter involved in meiotic cell cycle + + + Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. + other lyase activity + lyase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. - regulation of cellular carbohydrate metabolic process + + + Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. + other carbon-carbon lyase activity + carbon-carbon lyase activity - + - - - - - - - - - - - - - - - - - - - - - - Any process that increases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. - positive regulation of cellular carbohydrate metabolic process + + + Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. + decarboxylase activity + carboxy-lyase activity - + - - - - - - - - - - - - - - - - - - - - - - Any process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. - negative regulation of cellular carbohydrate metabolic process + + + Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone. + aldolase activity + aldehyde-lyase activity - + - - - - - - - - - - - - - - - Any cellular process that decreases the rate, extent or frequency of the chemical reactions and pathways involving carbohydrates carried out by repression of transcription. - negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-dependent - negative regulation of cellular carbohydrate metabolic process by repression of transcription - negative regulation of cellular carbohydrate metabolic process by transcriptional repression - negative regulation of cellular carbohydrate metabolic process by negative regulation of transcription, DNA-templated + + + Catalysis of the breakage of a carbon-oxygen bond. + other carbon-oxygen lyase activity + carbon-oxygen lyase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. - positive regulation of cell development + + + Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. + hydro-lyase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the rate, frequency or extent of the progression of the cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. - negative regulation of cell development + + + Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. + other isomerase activity + isomerase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of ubiquinone biosynthesis. Ubiquinone biosynthesis consists of the chemical reactions and pathways resulting in the formation of ubiquinone, a lipid-soluble electron-transporting coenzyme. - regulation of ubiquinone biosynthetic process + + + Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears. + intramolecular isomerase activity + intramolecular oxidoreductase activity, other intramolecular oxidoreductases + intramolecular oxidoreductase activity - + - - - Any process that modulates the levels of hormone within an organism or a tissue. A hormone is any substance formed in very small amounts in one specialized organ or group of cells and carried (sometimes in the bloodstream) to another organ or group of cells in the same organism, upon which it has a specific regulatory action. - regulation of hormone levels + + + Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears. + intramolecular isomerase activity, interconverting aldoses and ketoses + intramolecular oxidoreductase activity, interconverting aldoses and ketoses - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. - regulation of mitochondrion organisation - regulation of mitochondrion organization + + + Catalysis of the transfer of a functional group from one position to another within a single molecule. + mutase activity + intramolecular transferase activity, transferring other groups + intramolecular transferase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. - positive regulation of mitochondrion organisation - positive regulation of mitochondrion organization + + + Catalysis of the transfer of a phosphate group from one position to another within a single molecule. + phosphomutase activity + phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers + intramolecular transferase activity, phosphotransferases - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. - negative regulation of mitochondrion organisation - negative regulation of mitochondrion organization + + + Catalysis of the joining of two substances, or two groups within a single molecule, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. + synthetase activity + ligase activity - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of glucose transport - regulation of glucose transmembrane transport + + + Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. + other carbon-nitrogen ligase activity + ligase activity, forming carbon-nitrogen bonds - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - positive regulation of glucose transport - positive regulation of glucose transmembrane transport + + + Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. + peptide synthase activity + acid-amino acid ligase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of glucose transport across a membrane. Glucose transport is the directed movement of the hexose monosaccharide glucose into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - negative regulation of glucose transport - negative regulation of glucose transmembrane transport + + + Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. + ligase activity, forming carbon-carbon bonds - + - - - Any process in which a lipid is transported to, or maintained in, a specific location. - lipid localisation - lipid localization + + + Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. + oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors + oxidoreductase activity, acting on the aldehyde or oxo group of donors - + - - - - - - - - - - - - - - - - - - - - The directed movement of lipids into cells that is part of their accumulation and maintenance. - lipid transport involved in lipid storage + + + Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue. + short-branched-chain-acyl-CoA dehydrogenase activity - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. - regulation of lipid sequestration - regulation of lipid storage + + + The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms. + antibiotic metabolism + antibiotic metabolic process - + + + + + Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a very long chain fatty acid residue. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22. + very long-chain-acyl-CoA dehydrogenase activity + very-long-chain-acyl-CoA dehydrogenase activity + + + + + - - - - - - - - - - - - - - - - - - - - - Any process that increases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. - positive regulation of lipid sequestration - positive regulation of lipid storage + + + + A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. In yeast, this complex is called the Sec34/35 complex and is composed of eight subunits (Sec34p, Sec35p, Dor1p, Cod1p, Cod2p, Cod3p, Cod4p, and Cod5p). In mammals the subunits are named COG1-8. + COG complex + conserved oligomeric Golgi complex + Sec34/35 complex + Golgi transport complex - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the rate, frequency or extent of lipid storage. Lipid storage is the accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. - negative regulation of lipid storage + + + The chemical reactions and pathways involving a drug, a substance used in the diagnosis, treatment or prevention of a disease; as used here antibiotic substances (see antibiotic metabolism) are considered to be drugs, even if not used in medical or veterinary practice. + drug metabolism + drug metabolic process - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. - regulation of sequestering of triacylglycerol - regulation of triacylglycerol sequestration - regulation of sequestering of triglyceride + + + The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. + stem cell renewal + stem cell division - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. - positive regulation of sequestering of triacylglycerol - positive regulation of triglyceride sequestration - positive regulation of sequestering of triglyceride + + + Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. + 5-OPase activity + 5-oxo-L-prolinase activity + 5-oxo-L-proline amidohydrolase (ATP-hydrolysing) + 5-oxoprolinase (ATP-hydrolysing) + 5-oxoprolinase activity + L-pyroglutamate hydrolase activity + oxoprolinase activity + pyroglutamase (ATP-hydrolysing) + pyroglutamase (ATP-hydrolyzing) activity + pyroglutamase activity + pyroglutamate hydrolase activity + pyroglutamic hydrolase activity + 5-oxoprolinase (ATP-hydrolyzing) activity - + - - - - - - - - - - - - - - - - - - - - - Any process that decreases the rate, frequency or extent of sequestering of triglyceride. Triglyceride sequestration is the process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. - negative regulation of sequestering of triacylglycerol - negative regulation of triglyceride sequestration - negative regulation of sequestering of triglyceride + + + Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). + serine hydrolase activity - + - - - - - - - - - - - - - - - - - - - - - - Any process that increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. - positive regulation of steroid biosynthetic process + + + + The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). + heterocycle anabolism + heterocycle biosynthesis + heterocycle formation + heterocycle synthesis + heterocycle biosynthetic process - + - - - - - - - - - - - - - - - - - - - - - - Any process that decreases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus. - negative regulation of steroid biosynthetic process + + + + Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein. + biotin-apoprotein ligase activity + biotin-protein ligase activity - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. - regulation of glucose metabolism - regulation of glucose metabolic process + + + + The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds. + ether metabolism + organic ether metabolic process + organic ether metabolism + ether metabolic process - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the rate, frequency or extent of glucose metabolism. Glucose metabolic processes are the chemical reactions and pathways involving glucose, the aldohexose gluco-hexose. - positive regulation of glucose metabolism - positive regulation of glucose metabolic process + + + + + The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. + carbolic acid metabolic process + carbolic acid metabolism + hydroxybenzene metabolic process + hydroxybenzene metabolism + phenol-containing compound metabolism + phenol-containing compound metabolic process - + - + - + - - + + - - - - - - - - Any process that modulates the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. - regulation of isomerase activity + + + The specific behavior of an organism that is associated with reproduction. + reproductive behavior in a multicellular organism + reproductive behaviour + multicellular organism reproductive behavior + single-organism reproductive behavior + reproductive behavior - + - - - - - - - - - - - - - - - - - - - - - Any process that increases the activity of an isomerase. An isomerase catalyzes the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. - positive regulation of isomerase activity + + + The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione. + non-ribosomal peptide biosynthesis + non-ribosomal peptide biosynthetic process + non-ribosomal peptide formation + non-ribosomal peptide synthesis + nonribosomal peptide anabolism + nonribosomal peptide biosynthesis + nonribosomal peptide formation + nonribosomal peptide synthesis + nonribosomal peptide synthetase + nonribosomal peptide biosynthetic process - + - - - - - - - - - - - - - - + + - - + + - Any process that decreases the rate, frequency or extent of a cellular process that is involved in the progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. - negative regulation of cell cycle process + Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule. + carbohydrate kinase activity - + - + - - + + - - + - - + + - Any process that increases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. - positive regulation of endopeptidase activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. + regulation of lipid metabolism + regulation of lipid metabolic process - + - + - - + + - - + + - - + + - Any process that decreases the frequency, rate or extent of endopeptidase activity, the endohydrolysis of peptide bonds within proteins. - negative regulation of endopeptidase activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. + regulation of fatty acid metabolism + regulation of fatty acid metabolic process - + - + - - + + - - - + - - + + - Any process that increases the frequency, rate or extent of peptidase activity, the hydrolysis of peptide bonds within proteins. - positive regulation of peptidase activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. + regulation of steroid metabolism + regulation of steroid metabolic process - + - + - - + + - - - + + + - - + + - Any process that increases the rate, frequency or extent of protein maturation by peptide bond cleavage. - positive regulation of protein maturation by peptide bond cleavage - positive regulation of protein processing + Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. + regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism + regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process + regulation of nucleobase-containing compound metabolic process - + - + - - + + - - - + - - + + - Any process that decreases the rate, frequency or extent of protein maturation by peptide bond cleavage. - negative regulation of protein maturation by peptide bond cleavage - negative regulation of protein processing + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. + regulation of phosphate metabolism + regulation of phosphate metabolic process - + - - - - - - - - - - - - - - - - + + - - + + - Any process that decreases the rate, frequency or extent of a vitamin D biosynthetic process. Vitamin D biosynthesis is the chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). - negative regulation of vitamin D biosynthetic process + A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. + cytokine and chemokine mediated signaling pathway + cytokine mediated signalling pathway + cytokine-mediated signaling pathway - + - + - + - + - + - Any process that modulates the frequency, rate, or extent of metal ion transport. Metal ion transport is the directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of metal ion transport + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. + regulation of metabolism + regulation of multicellular organismal metabolic process + regulation of organismal metabolic process + regulation of metabolic process - + - - + + + + + + + + + - + - + - A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles. - endomembrane system + The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. + conduction of nerve impulse + signal transmission along a neuron + transmission of nerve impulse - + - - + + + + + + + + + + + + + + - - + + - The formation of the neural tube from an epithelial cell sheet (the neuroepithelium or neural plate). In primary neurulation, the cells surrounding the neural plate direct the neural plate cells to proliferate, invaginate, and pinch off from the surface to form a hollow epithelial tube. Primary neurulation is the typical mechanism of formation of the anterior neural tube. - primary neural tube morphogenesis - primary neurulation - primary neural tube formation + Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels. + regulation of vasoconstriction - + - - + + - + - The process aimed at the progression of a mesenchymal cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. - mesenchymal cell development + The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. + proprioception - + - - - - - - - - - - The process aimed at the progression of a neural crest cell over time, from initial commitment of the cell to its specific fate, to the fully functional differentiated cell. - neural crest cell development + + + The series of events by which an organism senses the speed and direction of movement of the body and its parts. + kinesthesia + perception of rate of movement - + - - - - The process in which a relatively unspecialized cell acquires specialized features of a neural crest cell. - neural crest cell differentiation + + + The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. + nociception + perception of physiological pain + sensory perception of pain - + - - - 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 organic cyclic compound stimulus. - response to organic cyclic substance - response to organic cyclic compound + + + Catalysis of the removal of an amino group from a substrate, producing ammonia (NH3). + deaminase activity - + - - - - - - - - - Enables the transfer of an ion from one side of a membrane to the other. - ion transporter activity - ion transmembrane transporter activity + + + The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. + hexose metabolism + hexose metabolic process - + - - - - - - - - - Enables the transfer of calcium (Ca) ions from one side of a membrane to the other. - calcium ion transmembrane transporter activity + + + + The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. + hexose anabolism + hexose biosynthesis + hexose formation + hexose synthesis + hexose biosynthetic process - + - - - - - - - - - - Enables the transfer of inorganic anions from one side of a membrane to the other. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. - inorganic anion transmembrane transporter activity + + + + The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. + nicotinamide nucleotide anabolism + nicotinamide nucleotide biosynthesis + nicotinamide nucleotide formation + nicotinamide nucleotide synthesis + nicotinamide nucleotide biosynthetic process - + - - - - - - - - - Enables the transfer of chloride ions from one side of a membrane to the other. - chloride ion transmembrane transporter activity - chloride transmembrane transporter activity + + + + + The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. + pyridine nucleotide metabolism + pyridine nucleotide metabolic process - + - - - - - - - - - Enables the transfer of a drug from one side of a membrane to the other. A drug is any naturally occurring or synthetic substance, other than a nutrient, that, when administered or applied to an organism, affects the structure or functioning of the organism; in particular, any such substance used in the diagnosis, prevention, or treatment of disease. - drug transporter activity - multidrug efflux pump activity - multidrug transporter activity - multidrug, alkane resistant pump activity - drug transmembrane transporter activity + + + + + + The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. + pyridine nucleotide anabolism + pyridine nucleotide biosynthesis + pyridine nucleotide formation + pyridine nucleotide synthesis + pyridine nucleotide biosynthetic process - + - - - Enables the energy-independent facilitated diffusion, mediated by passage of a solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. - pore activity - channel/pore class transporter activity - nonselective channel activity - alpha-type channel activity - channel-forming toxin activity - pore class transporter activity - channel activity + + + + The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. + fatty acid oxidation - + - - - - - Enables the transmembrane transfer of an ion by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. - ionotropic receptor activity - ligand-gated ion channel activity + + + + The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group. + alditol metabolism + alditol metabolic process - + - - - Enables the transfer of an inorganic molecular entity from the outside of a cell to the inside of the cell across a membrane. An inorganic molecular entity is a molecular entity that contains no carbon. - inorganic solute uptake transmembrane transporter activity - inorganic uptake permease activity - inorganic molecular entity transmembrane transporter activity + + + + The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. + aromatic compound anabolism + aromatic compound biosynthesis + aromatic compound formation + aromatic compound synthesis + aromatic hydrocarbon biosynthesis + aromatic hydrocarbon biosynthetic process + aromatic compound biosynthetic process - + - - - The directed movement of inorganic cations with a valency of one into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic cations are atoms or small molecules with a positive charge which do not contain carbon in covalent linkage. - monovalent inorganic cation transport + + + + The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. + aromatic compound breakdown + aromatic compound catabolism + aromatic compound degradation + aromatic hydrocarbon catabolic process + aromatic hydrocarbon catabolism + aromatic compound catabolic process - + - - - The directed movement of magnesium (Mg) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - magnesium transport - magnesium ion transport + + + + + The chemical reactions and pathways involving a protein. Includes protein modification. + protein metabolic process and modification + protein metabolism + protein metabolism and modification + multicellular organismal protein metabolic process + protein metabolic process - + - - - The directed movement of inorganic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Inorganic anions are atoms or small molecules with a negative charge which do not contain carbon in covalent linkage. - inorganic anion transport + + + + + + The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2. + urea metabolism + urea metabolic process - + - - - - The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. - organic anion transport + + + + The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. + organophosphate metabolism + organophosphate metabolic process - + - - - - The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - bilirubin transport + + + + + The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. + ribose phosphate metabolism + ribose phosphate metabolic process - + - - - The process in which a monosaccharide is transported across a lipid bilayer, from one side of a membrane to the other. Monosaccharides are the simplest carbohydrates; they are polyhydric alcohols containing either an aldehyde or a keto group and between three to ten or more carbon atoms. They form the constitutional repeating units of oligo- and polysaccharides. - monosaccharide transport - monosaccharide transmembrane transport + + + + Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. + B lymphocyte mediated immune effector process + B lymphocyte mediated immunity + B-cell mediated immune effector process + B-cell mediated immunity + B-lymphocyte mediated immune effector process + B-lymphocyte mediated immunity + B cell mediated immunity - + - - - true + + + + + + + + + + + + + + + + + + + + + Any process involved in the maintenance of an internal steady state at the level of the cell. + cellular homeostasis - + - - - The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - neutral amino acid transport + + + + An immune response against microbes mediated through a body fluid. Examples of this process are seen in the antimicrobial humoral response of Drosophila melanogaster and Mus musculus. + antimicrobial humoral response - + - - - - The directed movement of peptides, compounds of two or more amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - peptide transport + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. + regulation of isoprenoid metabolism + regulation of isoprenoid metabolic process + + + + + + + + + The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. + polyhydric alcohol metabolic process + polyol metabolism + polyol metabolic process + + + + + + + + + The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). + carboxylic acid metabolism + carboxylic acid metabolic process + + + + + + + + + A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An 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. + antibody + immunoglobulin complex + + + + + + + + + + An immunoglobulin complex that is present in the plasma membrane of B cells and that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. + B lymphocyte receptor complex + B-cell receptor complex + B-lymphocyte receptor complex + BCR complex + immunoglobulin complex, membrane bound + B cell receptor accessory molecule complex + antibody + B cell receptor complex + + + + + + + + + Interacting selectively and non-covalently with a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. + vitamin binding + + + + + + + + + + + + + + + + The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. + organelle inner membrane + + + + + + + + + The process in which an antigen-presenting cell expresses antigen (peptide or lipid) on its cell surface in association with an MHC protein complex. + antigen presentation + antigen processing + antigen processing and presentation + + + + + + + + + The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group. + pteridine metabolism + pteridine metabolic process - + - - - - The directed movement of amines, including polyamines, organic compounds containing one or more amino groups, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - amine/polyamine transport - amine transport + + + + + + + + + The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. + lipid retention + retention of lipids + sequestration of lipids + storage of lipids + lipid sequestering + lipid sequestration + sequestering of lipids + sequestration of lipid + lipid storage - + - - - - The directed movement of monoamines, organic compounds that contain one amino group that is connected to an aromatic ring by an ethylene group (-CH2-CH2-), into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - monoamine transport + + + + A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny. + sexual reproduction - + - - - The directed movement of organic acids, any acidic compound containing carbon in covalent linkage, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - organic acid transport + + + Interacting selectively and non-covalently with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity. + IL binding + interleukin binding + cytokine binding - + - - - The directed movement of an organic hydroxy compound (organic alcohol) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. An organic hydroxy compound is an organic compound having at least one hydroxy group attached to a carbon atom. - organic alcohol transport - organic hydroxy compound transport + + + A developmental process, independent of morphogenetic (shape) change, that is required for an anatomical structure, cell or cellular component to attain its fully functional state. + developmental maturation - + - - - - - - The directed movement of thiamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Thiamine is vitamin B1, a water soluble vitamin present in fresh vegetables and meats, especially liver. - thiamin transport - vitamin B1 transport - thiamine transport + + + + + + + + + + + + + + + + The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. + neural tube development - + - - + + - + - The directed movement of a drug, a substance used in the diagnosis, treatment or prevention of a disease, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - drug transport + Generation of cells within the nervous system. + nervous system cell generation + neural cell differentiation + neurogenesis - + - - - Catalysis of the hydrolysis of galactosyl compounds, substances containing a group derived from a cyclic form of galactose or a galactose derivative. - galactosidase activity + + + + + + + + + + + + + + + + + + + + The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. + cell cycle process - + - - - Catalysis of the hydrolysis of glucosyl compounds, substances containing a group derived from a cyclic form of glucose or a glucose derivative. - glucosidase activity + + + The initial attachment of a membrane or protein to a target membrane. Docking requires only that the proteins come close enough to interact and adhere. + membrane docking + membrane docking - + - - - Catalysis of the cleavage of hexosamine or N-acetylhexosamine residues (e.g. N-acetylglucosamine) residues from gangliosides or other glycoside oligosaccharides. - hexosaminidase activity + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. + regulation of cell-cell adhesion - + - - - - The chemical reactions and pathways by which a cell derives energy from organic compounds; results in the oxidation of the compounds from which energy is released. - chemoorganotrophy - energy derivation by oxidation of organic compounds + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. + down regulation of cell-cell adhesion + down-regulation of cell-cell adhesion + downregulation of cell-cell adhesion + inhibition of cell-cell adhesion + negative regulation of cell-cell adhesion - + - - - The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that provides energy for the synthesis of ATP or GTP. - energy coupled proton transport, down electrochemical gradient + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the rate or extent of cell adhesion to another cell. + up regulation of cell-cell adhesion + up-regulation of cell-cell adhesion + upregulation of cell-cell adhesion + activation of cell-cell adhesion + stimulation of cell-cell adhesion + positive regulation of cell-cell adhesion - + - - - - The transport of protons across a membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. - chemiosmosis - ATP synthesis coupled proton transport + + + + + + + + + A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. + circadian sleep/wake cycle process - + - - - - A multiprotein complex that forms a strong mechanical link between the cytoskeleton and extracellular matrix; typical of, but not confined to, muscle cells. The complex is composed of transmembrane, cytoplasmic, and extracellular proteins, including dystrophin, sarcoglycans, dystroglycan, dystrobrevins, syntrophins, sarcospan, caveolin-3, and NO synthase. - DGC - dystrophin glycoprotein complex - dystrophin-associated glycoprotein complex + + + A cellular process that results in the breakdown of a cellular component. + cell structure disassembly + cellular component disassembly at cellular level + cellular component disassembly - + - - + + + + + + + + + + + + + + - + - A protein complex that includes alpha- and beta-dystroglycan, which are alternative products of the same gene; the laminin-binding component of the dystrophin-associated glycoprotein complex, providing a link between the subsarcolemmal cytoskeleton (in muscle cells) and the extracellular matrix. Alpha-dystroglycan is an extracellular protein binding to alpha-laminin and to beta-dystroglycan; beta-dystroglycan is a transmembrane protein which binds alpha-dystroglycan and dystrophin. - dystroglycan complex + A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. + reproductive cellular process in multicellular organism + cellular process involved in reproduction in multicellular organism - + - - + + + + + + + + + + + + + - + - A protein complex formed of four sarcoglycans plus sarcospan; there are six known sarcoglycans: alpha-, beta-, gamma-, delta-, epsilon- and zeta-sarcoglycan; all are N-glycosylated single-pass transmembrane proteins. The sarcoglycan-sarcospan complex is a subcomplex of the dystrophin glycoprotein complex, and is fixed to the dystrophin axis by a lateral association with the dystroglycan complex. - sarcoglycan-sarcospan complex - sarcoglycan complex + A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. + single organism reproductive process + reproductive process - + - - - A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. - membrane + + + + + + + + + + + + + + + + + + + + A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. + digestive system process - + - - - The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. - integral to membrane - transmembrane - integral component of membrane + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. + regulation of morphogenesis + regulation of anatomical structure morphogenesis - + - - - - A process that results in the assembly, arrangement of constituent parts, or disassembly of a cellular component. - cell organisation - cellular component organisation at cellular level - cellular component organisation in other organism - cellular component organization at cellular level - cellular component organization in other organism - cell organization and biogenesis - cellular component organization + + + + + + + + + The aggregation, arrangement and bonding together of a cellular component. + cell structure assembly + cellular component assembly at cellular level + cellular component assembly - + - - - A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a vesicle. - vesicle organisation - vesicle organization and biogenesis - vesicle organization + + + The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. + biological adhesion - + - - - - The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. - anabolic carbohydrate metabolic process - anabolic carbohydrate metabolism - carbohydrate anabolism - carbohydrate biosynthesis - carbohydrate formation - carbohydrate synthesis - carbohydrate biosynthetic process + + + + + + + + + + + + + + + A ribosome located in the cytosol. + 70S ribosome + 80S ribosome + cytosolic ribosome - + - - - - The chemical reactions and pathways resulting in the breakdown of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. - carbohydrate breakdown - carbohydrate catabolism - carbohydrate degradation - catabolic carbohydrate metabolic process - catabolic carbohydrate metabolism - multicellular organismal carbohydrate catabolic process - single-organism carbohydrate catabolic process - carbohydrate catabolic process + + + Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. + porters + uniporter activity z + facilitated diffusion + passive transmembrane transporter activity - + - - - - - - The chemical reactions and pathways resulting in the formation of organic acids, any acidic compound containing carbon in covalent linkage. - organic acid anabolism - organic acid biosynthesis - organic acid formation - organic acid synthesis - organic acid biosynthetic process + + + + Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. + ionotropic neurotransmitter receptor activity + transmitter-gated ion channel activity - + - - - - - - The chemical reactions and pathways resulting in the breakdown of organic acids, any acidic compound containing carbon in covalent linkage. - organic acid breakdown - organic acid catabolism - organic acid degradation - organic acid catabolic process + + + Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts. + non-gated, wide pore channel activity + gap junction activity + wide pore channel activity - + - - - An immune response mediated by immunoglobulins, whether cell-bound or in solution. - antibody-mediated immune response - immunoglobulin mediated immune response + + + Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. + voltage-gated channel activity - + - - - - An inflammatory response driven by antigen recognition by antibodies bound to Fc receptors on mast cells or basophils, occurring within minutes after exposure of a sensitized individual to the antigen, and leading to the release of a variety of inflammatory mediators such as histamines. - immediate hypersensitivity response - type I hypersensitivity + + + Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. + ligand-gated channel activity - + - - - The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. - RNA metabolism - RNA metabolic process + + + + Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. + extracellular substance gated channel activity + neurotransmitter-gated channel activity + transmitter-gated channel activity - + - - - The chemical reactions and pathways involving diterpenoid compounds, terpenoids with four isoprene units. - diterpenoid metabolism - diterpene metabolic process - diterpene metabolism - diterpenoid metabolic process + + + Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus. + gated channel activity - + - - - The chemical reactions and pathways involving tetraterpenoid compounds, terpenoids with eight isoprene units. - tetraterpenoid metabolism - tetraterpene metabolic process - tetraterpene metabolism - tetraterpenoid metabolic process + + + Enables the energy-independent facilitated diffusion, mediated by passage of a specific solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. + substrate-specific channel activity - + - - - The chemical reactions and pathways involving carotenoids, tetraterpenoid compounds in which two units of 4 isoprenoid residues joined head-to-tail are themselves joined tail-to-tail. - carotenoid metabolism - carotenoid metabolic process + + + + Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus. + ion gated channel activity - + - - - - The chemical reactions and pathways involving sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. - sterol metabolism - sterol metabolic process + + + + Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. + voltage-gated cation channel activity - + - - - - - The chemical reactions and pathways resulting in the formation of sterols, steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule. - sterol anabolism - sterol biosynthesis - sterol formation - sterol synthesis - sterol biosynthetic process + + + + + Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. + acetylcholine-activated cation-selective channel activity + acetylcholine-gated cation channel activity + iontropic acetylcholine receptor activity + nAChR + nicotinergic acetylcholine receptor activity + nicotinic acetylcholine-activated cation-selective channel activity + acetylcholine-gated cation-selective channel activity - + - - - Catalysis of the reaction: NAD(P)H + O2 = NAD(P)H + O2-. - cytochrome B-245 - superoxide-generating NADPH oxidase activity + + + + + + + + + Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. + substrate-specific transporter activity + substrate-specific transmembrane transporter activity + uptake permease activity + uptake transmembrane transporter activity + transmembrane transporter activity - + - - - A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. - vesicle transport - vesicular transport - nonselective vesicle transport - protein sorting along secretory pathway - vesicle trafficking - vesicle-mediated transport + + + + Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. + di-, tri-valent inorganic cation transmembrane transporter activity + inorganic cation transmembrane transporter activity - + - + - + - - + + - + + - - + + - Inhibition of the reactions brought about by dioxygen (O2) or peroxides. Usually the antioxidant is effective because it can itself be more easily oxidized than the substance protected. The term is often applied to components that can trap free radicals, thereby breaking the chain reaction that normally leads to extensive biological damage. - antioxidant activity - - - - - - - - - Catalysis of the reaction: N-sulfo-D-glucosamine + H2O = D-glucosamine + sulfate. - 2-desoxy-D-glucoside-2-sulphamate sulphohydrolase (sulphamate sulphohydrolase) - N-sulfo-D-glucosamine sulfohydrolase activity - N-sulphoglucosamine sulphohydrolase activity - heparin sulfamidase activity - sulfoglucosamine sulfamidase activity - sulphamidase activity - N-sulfoglucosamine sulfohydrolase activity + Any process that modulates the frequency, rate or extent of transmembrane transporter activity. + regulation of transmembrane transporter activity - + - - + + + + + + + + + + + + + - + - Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. - phosphokinase activity - kinase activity - - - - - - - - - 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. - phosphorylation - - - - - - - - - - The process in which the anatomical structures of embryonic epithelia are generated and organized. - morphogenesis of embryonic epithelium - - - - - - - - - Catalysis of the transfer of an acyl group to an oxygen atom on the carnitine molecule. - carnitine O-acyltransferase activity - - - - - - - - - Catalysis of the transfer of an acetyl group to an acceptor molecule. - acetylase activity - acetyltransferase activity + Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. + regulation of gene expression as a consequence of signal transmission + signal transduction involved in regulation of gene expression - + - - - Catalysis of the transfer of an acyl group to a nitrogen atom on the acceptor molecule. - N-acyltransferase activity + + + A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription. + CD40 signalling pathway + CD40 signaling pathway - + - - - - Catalysis of the transfer of an acetyl group to an oxygen atom on the acceptor molecule. - O-acetyltransferase activity + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of a signaling process. + regulation of signaling process + regulation of signalling process + regulation of signaling - + - - - Catalysis of the joining of a carboxyl group to a molecule that is attached to CoA, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. - CoA carboxylase activity + + + The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. + biological signaling + signaling process + signalling + signalling process + single organism signaling + signaling - + - - - A large protein complex that catalyzes the synthesis or hydrolysis of ATP by a rotational mechanism, coupled to the transport of protons across a membrane. The complex comprises a membrane sector (F0, V0, or A0) that carries out proton transport and a cytoplasmic compartment sector (F1, V1, or A1) that catalyzes ATP synthesis or hydrolysis. Two major types have been characterized: V-type ATPases couple ATP hydrolysis to the transport of protons across a concentration gradient, whereas F-type ATPases, also known as ATP synthases, normally run in the reverse direction to utilize energy from a proton concentration or electrochemical gradient to synthesize ATP. A third type, A-type ATPases have been found in archaea, and are closely related to eukaryotic V-type ATPases but are reversible. - hydrogen-transporting two-sector ATPase complex - vacuolar hydrogen-transporting ATPase - proton-transporting two-sector ATPase complex + + + + + + + + + + + + + + + + + + + + + Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. + positive regulation of signalling process + positive regulation of signaling process + positive regulation of signaling - + - - - The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. - cell migration + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. + negative regulation of signaling process + negative regulation of signalling process + negative regulation of signaling - + - + - + - - + + - + - - + + - The directed movement of substances or organelles within the cytosol. - cytosolic transport + The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. + signal secretion + signal release - + - - - - Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein. - protein maturation by peptide bond cleavage - protein maturation by peptide bond hydrolysis - peptidolysis during protein maturation - protein maturation by proteolysis - protein processing + + + The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + heavy metal ion transport + metal ion transport - + - - - - - - - - - Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced. - redox activity - oxidoreductase activity, acting on other substrates - oxidoreductase activity + + + + Any process involved in the maintenance of an internal steady state of cations at the level of a cell. + cellular cation homeostasis - + - - - Interacting selectively and non-covalently with glutamate, the anion of 2-aminopentanedioic acid. - glutamic acid binding - glutamate binding + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. + cell projection organisation + cell projection organization and biogenesis + cell surface structure organization and biogenesis + cell projection organization - + - - - Interacting selectively and non-covalently with an amino acid, organic acids containing one or more amino substituents. - amino acid binding + + + + Formation of a prolongation or process extending from a cell, e.g. a flagellum or axon. + formation of a cell surface projection + cell projection biogenesis + cell projection assembly - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group act as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. - oxidoreductase activity, acting on the CH-OH group of donors, other acceptors - oxidoreductase activity, acting on CH-OH group of donors + + + A cellular component that forms a specialized region of connection between two or more cells or between a cell and the extracellular matrix. At a cell junction, anchoring proteins extend through the plasma membrane to link cytoskeletal proteins in one cell to cytoskeletal proteins in neighboring cells or to proteins in the extracellular matrix. + cell junction - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a CH-OH group acts as a hydrogen or electron donor and reduces NAD+ or NADP. - oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor + + + + A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism. + macula adherens + spot desmosome + desmosome - + - - - Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces NAD or NADP. - oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor + + + + The regulated release of a peptide hormone from a cell. + peptide hormone secretion - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. - oxidoreductase activity, acting on the CH-CH group of donors, other acceptors - oxidoreductase activity, acting on the CH-CH group of donors + + + + 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. + insulin secretion - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a CH-CH group acts as a hydrogen or electron donor and reduces NAD or NADP. - oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor + + + The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. + blood cell biosynthesis + blood cell formation + haemopoiesis + hematopoiesis + hemopoiesis - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. - oxidoreductase activity, acting on the CH-NH group of donors, other acceptors - oxidoreductase activity, acting on the CH-NH group of donors + + + + The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. + lymphocyte cell differentiation + lymphocytic blood cell differentiation + lymphocyte development + lymphocyte differentiation - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a CH-NH group acts as a hydrogen or electron donor and reduces NAD or NADP. - oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor + + + + + + + + + The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of any cell of the myeloid leukocyte, megakaryocyte, thrombocyte, or erythrocyte lineages. + myeloid cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of endocytosis. + regulation of endocytosis - + - - - Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. - NAD(P)H dehydrogenase - oxidoreductase activity, acting on NADH or NADPH, other acceptor - oxidoreductase activity, acting on NADH or NADPH - oxidoreductase activity, acting on NAD(P)H + + + + + + + + + A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. + secretory vesicle + secretory granule - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. - oxidoreductase activity, acting on sulphur group of donors - oxidoreductase activity, acting on sulfur group of donors, other acceptors - oxidoreductase activity, acting on a sulfur group of donors + + + + + The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). + sphingolipid anabolism + sphingolipid biosynthesis + sphingolipid formation + sphingolipid synthesis + sphingolipid biosynthetic process - + - - - Catalysis of an oxidation-reduction (redox) reaction in which a sulfur-containing group acts as a hydrogen or electron donor and reduces oxygen. - oxidoreductase activity, acting on sulphur group of donors, oxygen as acceptor - oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor + + + The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. + cell differentiation - + - - - Catalysis of an oxidation-reduction (redox) reaction in which the peroxide group acts as a hydrogen or electron acceptor. - oxidoreductase activity, acting on peroxide as acceptor + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. + cell adhesion receptor regulator activity + regulation of cell adhesion - + - - - Catalysis of an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from each of two donors, and molecular oxygen is reduced or incorporated into a donor. - oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, miscellaneous - oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. + regulation of peptidolysis + regulation of proteolysis - + - - - Catalysis of the transfer of a group, e.g. a methyl group, glycosyl group, acyl group, phosphorus-containing, or other groups, from one compound (generally regarded as the donor) to another compound (generally regarded as the acceptor). Transferase is the systematic name for any enzyme of EC class 2. - transferase activity + + + + + + + + + The process in which a relatively unspecialized cell acquires specialized features of a neuron. + neuron differentiation - + - - - Catalysis of the transfer of an acyl group from one compound (donor) to another (acceptor). - acyltransferase activity - transferase activity, transferring acyl groups + + + + The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. + B lymphocyte differentiation + B-cell differentiation + B-lymphocyte differentiation + B cell development + B cell differentiation - + - - - Catalysis of the transfer of an acyl group, other than amino-acyl, from one compound (donor) to another (acceptor). - transferase activity, transferring groups other than amino-acyl groups - transferase activity, transferring acyl groups other than amino-acyl groups + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of blood coagulation. + regulation of blood coagulation - + - - - - Catalysis of the transfer of an amino-acyl group from one compound (donor) to another (acceptor). - aminoacyltransferase activity - transferase activity, transferring amino-acyl groups + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of blood coagulation. + up regulation of blood coagulation + up-regulation of blood coagulation + upregulation of blood coagulation + activation of blood coagulation + stimulation of blood coagulation + positive regulation of blood coagulation - + - - - Catalysis of the transfer of an alkyl or aryl (but not methyl) group from one compound (donor) to another (acceptor). - transferase activity, transferring alkyl or aryl groups, other than methyl groups - transferase activity, transferring alkyl or aryl (other than methyl) groups + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. + down regulation of blood coagulation + down-regulation of blood coagulation + downregulation of blood coagulation + inhibition of blood coagulation + negative regulation of blood coagulation - + - - - Catalysis of the transfer of a nitrogenous group from one compound (donor) to another (acceptor). - transferase activity, transferring other nitrogenous groups - transferase activity, transferring nitrogenous groups + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix. + extracellular matrix organisation + extracellular matrix organization and biogenesis + extracellular matrix organization - + - - - Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to another (acceptor). - transferase activity, transferring phosphorus-containing groups + + + + + The chemical reactions and pathways involving heparin, any member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells. They are similar to heparan sulfates but are of somewhat higher average Mr (6000-20000) and contain fewer N-acetyl groups and more N-sulfate and O-sulfate groups; they may be attached in the same manner to protein, forming proteoglycans. They consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. + heparin metabolism + heparan sulfate metabolic process + heparin metabolic process - + - - - Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to an alcohol group (acceptor). - phosphotransferase activity, alcohol group as acceptor + + + The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties. + glycosaminoglycan metabolism + glycosaminoglycan metabolic process - + - - - Catalysis of the transfer of a phosphorus-containing group from one compound (donor) to a carboxyl group (acceptor). - phosphotransferase activity, carboxyl group as acceptor + + + + + The chemical reactions and pathways resulting in the formation of heparin, any member of a group of glycosaminoglycans of average Mr (6000-20000), consisting predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. + heparin anabolism + heparin biosynthesis + heparin formation + heparin synthesis + heparan sulfate biosynthetic process + heparin biosynthetic process - + - - - Catalysis of the transfer of a diphosphate group from one compound (donor) to a another (acceptor). - diphosphotransferase activity + + + + The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. + hyaluronan metabolism + hyaluronan metabolic process - + - - - Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc. Hydrolase is the systematic name for any enzyme of EC class 3. - hydrolase activity + + + + The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. + T lymphocyte differentiation + T-cell differentiation + T-lymphocyte differentiation + T cell development + T cell differentiation - + - - - Catalysis of the hydrolysis of any ester bond. - esterase activity - hydrolase activity, acting on ester bonds + + + + + + + + + The process in which a myeloid precursor cell acquires specializes features of an erythrocyte. + RBC differentiation + erythrocyte cell differentiation + erythropoiesis + red blood cell differentiation + erythrocyte differentiation - + - - - Catalysis of the hydrolysis of any glycosyl bond. - glycosidase activity - N-glycosylase - glycosylase - hydrolase activity, acting on glycosyl bonds + + + The process in which a myeloid precursor cell acquires specializes features of a megakaryocyte. + megakaryocyte cell differentiation + megakaryocyte differentiation - + - - - Catalysis of the hydrolysis of any carbon-nitrogen bond, C-N, with the exception of peptide bonds. - hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in other compounds - hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds + + + The process in which a relatively unspecialized myeloid precursor cell acquires specialized features of a basophil cell. + basophil cell differentiation + basophil differentiation - + - - - Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a linear amide. - hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides + + + + The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. + monocyte cell differentiation + monocyte differentiation - + - - - Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amide. - hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides + + + The process in which a relatively unspecialized monocyte acquires the specialized features of a macrophage. + macrophage cell differentiation + macrophage differentiation - + - - - Catalysis of the hydrolysis of any non-peptide carbon-nitrogen bond in a cyclic amidine, a compound of the form R-C(=NH)-NH2. - hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines + + + The regulated release of growth hormone from secretory granules into the blood. + somatotropin secretion + growth hormone secretion - + - - - Catalysis of the hydrolysis of any acid sulfur-nitrogen bond. - hydrolase activity, acting on acid sulphur-nitrogen bonds - hydrolase activity, acting on acid sulfur-nitrogen bonds + + + The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. + lipid modification - + - - - Catalysis of the cleavage of C-C, C-O, C-N and other bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. They differ from other enzymes in that two substrates are involved in one reaction direction, but only one in the other direction. When acting on the single substrate, a molecule is eliminated and this generates either a new double bond or a new ring. - other lyase activity - lyase activity + + + The progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. + DNA condensation + eukaryotic chromosome condensation + nuclear chromosome condensation + chromosome condensation - + - - - Catalysis of the cleavage of C-C bonds by other means than by hydrolysis or oxidation, or conversely adding a group to a double bond. - other carbon-carbon lyase activity - carbon-carbon lyase activity + + + Alterations undergone by nuclei at the molecular and morphological level as part of the execution phase of apoptosis. + apoptotic nuclear change + apoptotic nuclear changes - + - - - Catalysis of the nonhydrolytic addition or removal of a carboxyl group to or from a compound. - decarboxylase activity - carboxy-lyase activity + + + + + + + + + The compaction of chromatin during apoptosis. + pyknosis + apoptotic chromosome condensation - + - - - Catalysis of the cleavage of a C-C bond in a molecule containing a hydroxyl group and a carbonyl group to form two smaller molecules, each being an aldehyde or a ketone. - aldolase activity - aldehyde-lyase activity + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of bone formation. + regulation of bone biosynthesis + regulation of bone formation + regulation of ossification - + - - - Catalysis of the breakage of a carbon-oxygen bond. - other carbon-oxygen lyase activity - carbon-oxygen lyase activity + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of bone formation. + down regulation of ossification + down-regulation of ossification + downregulation of ossification + negative regulation of bone biosynthesis + negative regulation of bone formation + inhibition of ossification + negative regulation of ossification - + - - - Catalysis of the cleavage of a carbon-oxygen bond by elimination of water. - hydro-lyase activity + + + The process in which a relatively unspecialized monocyte acquires the specialized features of an osteoclast. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue. + osteoclast cell differentiation + osteoclast differentiation - + - - - Catalysis of the geometric or structural changes within one molecule. Isomerase is the systematic name for any enzyme of EC class 5. - other isomerase activity - isomerase activity + + + Any process involved in the controlled movement of a flagellated sperm cell. + sperm motility + sperm movement + flagellated sperm movement + flagellated sperm motility - + - - - Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor are the same molecule, and no oxidized product appears. - intramolecular isomerase activity - intramolecular oxidoreductase activity, other intramolecular oxidoreductases - intramolecular oxidoreductase activity + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cell migration. + regulation of cell migration - + - - - Catalysis of an oxidation-reduction (redox) reaction in which the hydrogen donor and acceptor, which is an aldose or a ketose, are the same molecule, and no oxidized product appears. - intramolecular isomerase activity, interconverting aldoses and ketoses - intramolecular oxidoreductase activity, interconverting aldoses and ketoses + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cell migration. + up regulation of cell migration + up-regulation of cell migration + upregulation of cell migration + activation of cell migration + stimulation of cell migration + positive regulation of cell migration + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. + down regulation of cell migration + down-regulation of cell migration + downregulation of cell migration + inhibition of cell migration + negative regulation of cell migration - + - - - Catalysis of the transfer of a functional group from one position to another within a single molecule. - mutase activity - intramolecular transferase activity, transferring other groups - intramolecular transferase activity + + + + + + + + + Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O. + cholecalciferol 25-hydroxylase activity + vitamin D3 25-hydroxylase activity - + - - - Catalysis of the transfer of a phosphate group from one position to another within a single molecule. - phosphomutase activity - phosphotransferase activity, with regeneration of donors, apparently catalyzing intramolecular transfers - intramolecular transferase activity, phosphotransferases + + + The expulsion of feces from the rectum. + defecation - + - - - Catalysis of the joining of two substances, or two groups within a single molecule, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. - synthetase activity - ligase activity + + + The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. + axon - + - - - Catalysis of the joining of two molecules, or two groups within a single molecule, via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. - other carbon-nitrogen ligase activity - ligase activity, forming carbon-nitrogen bonds + + + Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. + diapause + dormancy + lethargus + sleep - + - - - Catalysis of the ligation of an acid to an amino acid via a carbon-nitrogen bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. - peptide synthase activity - acid-amino acid ligase activity + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of complement activation. + regulation of complement cascade + regulation of complement activation - + - - - Catalysis of the joining of two molecules via a carbon-carbon bond, with the concomitant hydrolysis of the diphosphate bond in ATP or a similar triphosphate. - ligase activity, forming carbon-carbon bonds + + + + A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands. + steroid hormone receptor signaling pathway + steroid hormone receptor signalling pathway + intracellular steroid hormone receptor signaling pathway - + - - - Catalysis of an oxidation-reduction (redox) reaction in which an aldehyde or ketone (oxo) group acts as a hydrogen or electron donor and reduces a hydrogen or electron acceptor. - oxidoreductase activity, acting on the aldehyde or oxo group of donors, other acceptors - oxidoreductase activity, acting on the aldehyde or oxo group of donors + + + Any series of molecular signals generated as a consequence of an androgen binding to its receptor. + androgen receptor signalling pathway + androgen receptor signaling pathway - + - - - Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a short branched chain fatty acid residue. - short-branched-chain-acyl-CoA dehydrogenase activity + + + Any series of molecular signals initiated by a ligand binding to an receptor located within a cell. + intracellular receptor mediated signaling pathway + intracellular receptor-mediated signaling pathway + intracellular receptor-mediated signalling pathway + intracellular receptor signaling pathway - + - - - The chemical reactions and pathways involving an antibiotic, a substance produced by or derived from certain fungi, bacteria, and other organisms, that can destroy or inhibit the growth of other microorganisms. - antibiotic metabolism - antibiotic metabolic process + + + + + + + + + + + + + + + The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. + receptor regulator activity - + - - - Catalysis of the reaction: acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor, where the acyl group is a very long chain fatty acid residue. A very long-chain fatty acid is a fatty acid which has a chain length greater than C22. - very long-chain-acyl-CoA dehydrogenase activity - very-long-chain-acyl-CoA dehydrogenase activity + + + + The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. + neutrophil chemotaxis - + - - - - A multisubunit tethering complex of the CATCHR family (complexes associated with tethering containing helical rods) that has a role in tethering vesicles to the Golgi prior to fusion. In yeast, this complex is called the Sec34/35 complex and is composed of eight subunits (Sec34p, Sec35p, Dor1p, Cod1p, Cod2p, Cod3p, Cod4p, and Cod5p). In mammals the subunits are named COG1-8. - COG complex - conserved oligomeric Golgi complex - Sec34/35 complex - Golgi transport complex + + + + + + + + + Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. + neurotransmitter receptor activity - + - - - The chemical reactions and pathways involving a drug, a substance used in the diagnosis, treatment or prevention of a disease; as used here antibiotic substances (see antibiotic metabolism) are considered to be drugs, even if not used in medical or veterinary practice. - drug metabolism - drug metabolic process + + + + The movement of a leukocyte in response to an external stimulus. + immune cell chemotaxis + leucocyte chemotaxis + leukocyte chemotaxis - + - - - Catalysis of the reaction: 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. - 5-OPase activity - 5-oxo-L-prolinase activity - 5-oxo-L-proline amidohydrolase (ATP-hydrolysing) - 5-oxoprolinase (ATP-hydrolysing) - 5-oxoprolinase activity - L-pyroglutamate hydrolase activity - oxoprolinase activity - pyroglutamase (ATP-hydrolysing) - pyroglutamase (ATP-hydrolyzing) activity - pyroglutamase activity - pyroglutamate hydrolase activity - pyroglutamic hydrolase activity - 5-oxoprolinase (ATP-hydrolyzing) activity + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. + regulation of vitamin metabolism + regulation of vitamin metabolic process - + - - - Catalysis of the hydrolysis of a substrate by a catalytic mechanism that involves a catalytic triad consisting of a serine nucleophile that is activated by a proton relay involving an acidic residue (e.g. aspartate or glutamate) and a basic residue (usually histidine). - serine hydrolase activity + + + + The lipid bilayer surrounding a cytoplasmic vesicle. + cytoplasmic vesicle membrane - + - - - - The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings). - heterocycle anabolism - heterocycle biosynthesis - heterocycle formation - heterocycle synthesis - heterocycle biosynthetic process + + + + + + + + + + + The lipid bilayer surrounding a secretory granule. + secretory vesicle membrane + secretory granule membrane - + - - - - Catalysis of the reaction: ATP + biotin + protein = AMP + diphosphate + biotin-protein. - biotin-apoprotein ligase activity - biotin-protein ligase activity + + + The directed movement of substances along cytoskeletal fibers such as microfilaments or microtubules within a cell. + cytoskeleton-dependent intracellular transport - + - - - - The chemical reactions and pathways involving organic ethers, any anhydride of the general formula R1-O-R2, formed between two identical or nonidentical organic hydroxy compounds. - ether metabolism - organic ether metabolic process - organic ether metabolism - ether metabolic process + + + The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. + retention of triacylglycerol + retention of triglyceride + sequestering of triacylglycerol + sequestration of triacylglycerol + sequestration of triglyceride + storage of triacylglycerol + storage of triglyceride + triacylglycerol retention + triacylglycerol sequestering + triacylglycerol sequestration + triacylglycerol storage + triglyceride retention + triglyceride sequestering + triglyceride sequestration + triglyceride storage + sequestering of triglyceride - + - - - - - The chemical reactions and pathways involving a phenol, any compound containing one or more hydroxyl groups directly attached to an aromatic carbon ring. - carbolic acid metabolic process - carbolic acid metabolism - hydroxybenzene metabolic process - hydroxybenzene metabolism - phenol-containing compound metabolism - phenol-containing compound metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. + regulation of nucleotide anabolism + regulation of nucleotide biosynthesis + regulation of nucleotide formation + regulation of nucleotide synthesis + regulation of nucleotide biosynthetic process - + - + - + - - + + - - - The specific behavior of an organism that is associated with reproduction. - reproductive behavior in a multicellular organism - reproductive behaviour - multicellular organism reproductive behavior - single-organism reproductive behavior - reproductive behavior + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. + down regulation of nucleotide biosynthetic process + down-regulation of nucleotide biosynthetic process + downregulation of nucleotide biosynthetic process + negative regulation of nucleotide anabolism + negative regulation of nucleotide biosynthesis + negative regulation of nucleotide formation + negative regulation of nucleotide synthesis + inhibition of nucleotide biosynthetic process + negative regulation of nucleotide biosynthetic process - + - - - The biosynthetic process in which peptide bond formation occurs in the absence of the translational machinery. Examples include the synthesis of antibiotic peptides, and glutathione. - non-ribosomal peptide biosynthesis - non-ribosomal peptide biosynthetic process - non-ribosomal peptide formation - non-ribosomal peptide synthesis - nonribosomal peptide anabolism - nonribosomal peptide biosynthesis - nonribosomal peptide formation - nonribosomal peptide synthesis - nonribosomal peptide synthetase - nonribosomal peptide biosynthetic process + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. + positive regulation of nucleotide anabolism + positive regulation of nucleotide biosynthesis + positive regulation of nucleotide formation + positive regulation of nucleotide synthesis + up regulation of nucleotide biosynthetic process + up-regulation of nucleotide biosynthetic process + upregulation of nucleotide biosynthetic process + activation of nucleotide biosynthetic process + stimulation of nucleotide biosynthetic process + positive regulation of nucleotide biosynthetic process - + - - + + + + + + + + + + + + + + + - - + + - Catalysis of the transfer of a phosphate group, usually from ATP, to a carbohydrate substrate molecule. - carbohydrate kinase activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. + regulation of nucleotide breakdown + regulation of nucleotide catabolism + regulation of nucleotide degradation + regulation of nucleotide catabolic process - + - + - - + + - + + + + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving lipids. - regulation of lipid metabolism - regulation of lipid metabolic process + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. + down regulation of nucleotide catabolic process + down-regulation of nucleotide catabolic process + downregulation of nucleotide catabolic process + negative regulation of nucleotide breakdown + negative regulation of nucleotide catabolism + negative regulation of nucleotide degradation + inhibition of nucleotide catabolic process + negative regulation of nucleotide catabolic process - + - + - - + + - - + + + + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving fatty acids. - regulation of fatty acid metabolism - regulation of fatty acid metabolic process + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. + positive regulation of nucleotide breakdown + positive regulation of nucleotide catabolism + positive regulation of nucleotide degradation + up regulation of nucleotide catabolic process + up-regulation of nucleotide catabolic process + upregulation of nucleotide catabolic process + activation of nucleotide catabolic process + stimulation of nucleotide catabolic process + positive regulation of nucleotide catabolic process - + - + + + Any chromosome other than a sex chromosome. + autosome + + + + + + + + + The process in which a myeloid precursor cell acquires the specialized features of a granulocyte. Granulocytes are a class of leukocytes characterized by the presence of granules in their cytoplasm. These cells are active in allergic immune reactions such as arthritic inflammation and rashes. This class includes basophils, eosinophils and neutrophils. + granulocyte cell differentiation + granulocyte differentiation + + + + + + + - + - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving steroids. - regulation of steroid metabolism - regulation of steroid metabolic process + Any process that modulates the frequency, rate or extent of granulocyte differentiation. + regulation of granulocyte differentiation - + - + - - + + - - - + + - - + + - Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids. - regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism - regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolic process - regulation of nucleobase-containing compound metabolic process + Any process that stops, prevents, or reduces the frequency, rate or extent of granulocyte differentiation. + down regulation of granulocyte differentiation + down-regulation of granulocyte differentiation + downregulation of granulocyte differentiation + inhibition of granulocyte differentiation + negative regulation of granulocyte differentiation - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving phosphates. - regulation of phosphate metabolism - regulation of phosphate metabolic process + Any process that activates or increases the frequency, rate or extent of granulocyte differentiation. + up regulation of granulocyte differentiation + up-regulation of granulocyte differentiation + upregulation of granulocyte differentiation + activation of granulocyte differentiation + stimulation of granulocyte differentiation + positive regulation of granulocyte differentiation - + - - + + - + - A series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with regulation of a downstream cellular process, e.g. transcription. - cytokine and chemokine mediated signaling pathway - cytokine mediated signalling pathway - cytokine-mediated signaling pathway + The process in which a relatively unspecialized cell acquires specialized features of an epithelial cell, any of the cells making up an epithelium. + epithelial cell differentiation - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism. - regulation of metabolism - regulation of multicellular organismal metabolic process - regulation of organismal metabolic process - regulation of metabolic process + Any process that modulates the frequency, rate or extent of epithelial cell differentiation. + regulation of epithelial cell differentiation - + - + - - + + - - + + - - + + - Any process that modulates the frequency, rate or extent of reductions in the diameter of blood vessels. - regulation of vasoconstriction + Any process that stops, prevents, or reduces the frequency, rate or extent of epithelial cell differentiation. + down regulation of epithelial cell differentiation + down-regulation of epithelial cell differentiation + downregulation of epithelial cell differentiation + inhibition of epithelial cell differentiation + negative regulation of epithelial cell differentiation - + - - + + + + + + + + + + + + + + - - + + - The series of events by which an organism senses the position, location, orientation, and movement of the body and its parts. Proprioception is mediated by proprioceptors, sensory nerve terminals found in muscles, tendons, and joint capsules, which give information concerning movements and position of the body. The receptors in the labyrinth are sometimes also considered proprioceptors. - proprioception - - - - - - - - - The series of events by which an organism senses the speed and direction of movement of the body and its parts. - kinesthesia - perception of rate of movement - - - - - - - - - The series of events required for an organism to receive a painful stimulus, convert it to a molecular signal, and recognize and characterize the signal. Pain is medically defined as the physical sensation of discomfort or distress caused by injury or illness, so can hence be described as a harmful stimulus which signals current (or impending) tissue damage. Pain may come from extremes of temperature, mechanical damage, electricity or from noxious chemical substances. This is a neurological process. - nociception - perception of physiological pain - sensory perception of pain - - - - - - - - - Catalysis of the removal of an amino group from a substrate, producing ammonia (NH3). - deaminase activity - - - - - - - - - The chemical reactions and pathways involving a hexose, any monosaccharide with a chain of six carbon atoms in the molecule. - hexose metabolism - hexose metabolic process - - - - - - - - - - The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. - hexose anabolism - hexose biosynthesis - hexose formation - hexose synthesis - hexose biosynthetic process - - - - - - - - - - The chemical reactions and pathways resulting in the formation of nicotinamide nucleotides, any nucleotide that contains combined nicotinamide. - nicotinamide nucleotide anabolism - nicotinamide nucleotide biosynthesis - nicotinamide nucleotide formation - nicotinamide nucleotide synthesis - nicotinamide nucleotide biosynthetic process - - - - - - - - - - - The chemical reactions and pathways involving a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. - pyridine nucleotide metabolism - pyridine nucleotide metabolic process - - - - - - - - - - - - The chemical reactions and pathways resulting in the formation of a pyridine nucleotide, a nucleotide characterized by a pyridine derivative as a nitrogen base. - pyridine nucleotide anabolism - pyridine nucleotide biosynthesis - pyridine nucleotide formation - pyridine nucleotide synthesis - pyridine nucleotide biosynthetic process - - - - - - - - - - The removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. - fatty acid oxidation - - - - - - - - - - The chemical reactions and pathways involving alditols, any polyhydric alcohol derived from the acyclic form of a monosaccharide by reduction of its aldehyde or keto group to an alcoholic group. - alditol metabolism - alditol metabolic process - - - - - - - - - - The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring. - aromatic compound anabolism - aromatic compound biosynthesis - aromatic compound formation - aromatic compound synthesis - aromatic hydrocarbon biosynthesis - aromatic hydrocarbon biosynthetic process - aromatic compound biosynthetic process - - - - - - - - - - The chemical reactions and pathways resulting in the breakdown of aromatic compounds, any substance containing an aromatic carbon ring. - aromatic compound breakdown - aromatic compound catabolism - aromatic compound degradation - aromatic hydrocarbon catabolic process - aromatic hydrocarbon catabolism - aromatic compound catabolic process - - - - - - - - - - - The chemical reactions and pathways involving a protein. Includes protein modification. - protein metabolic process and modification - protein metabolism - protein metabolism and modification - multicellular organismal protein metabolic process - protein metabolic process - - - - - - - - - - - - The chemical reactions and pathways involving urea, the water soluble compound O=C-(NH2)2. - urea metabolism - urea metabolic process - - - - - - - - - - The chemical reactions and pathways involving organophosphates, any phosphate-containing organic compound. - organophosphate metabolism - organophosphate metabolic process - - - - - - - - - - - The chemical reactions and pathways involving ribose phosphate, any phosphorylated ribose sugar. - ribose phosphate metabolism - ribose phosphate metabolic process + Any process that activates or increases the frequency, rate or extent of epithelial cell differentiation. + up regulation of epithelial cell differentiation + up-regulation of epithelial cell differentiation + upregulation of epithelial cell differentiation + activation of epithelial cell differentiation + stimulation of epithelial cell differentiation + positive regulation of epithelial cell differentiation - + - - - - Any process involved with the carrying out of an immune response by a B cell, through, for instance, the production of antibodies or cytokines, or antigen presentation to T cells. - B lymphocyte mediated immune effector process - B lymphocyte mediated immunity - B-cell mediated immune effector process - B-cell mediated immunity - B-lymphocyte mediated immune effector process - B-lymphocyte mediated immunity - B cell mediated immunity + + + The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. + mammogenesis + mammary gland development - + - + - + - - + + - - + - - + + - Any process involved in the maintenance of an internal steady state at the level of the cell. - cellular homeostasis + Any process that modulates the frequency or rate of myeloid dendritic cell activation. + regulation of myeloid dendritic cell activation - + - + - - + + - - + + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving isoprenoids. - regulation of isoprenoid metabolism - regulation of isoprenoid metabolic process - - - - - - - - - The chemical reactions and pathways involving a polyol, any alcohol containing three or more hydroxyl groups attached to saturated carbon atoms. - polyhydric alcohol metabolic process - polyol metabolism - polyol metabolic process - - - - - - - - - The chemical reactions and pathways involving carboxylic acids, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). - carboxylic acid metabolism - carboxylic acid metabolic process - - - - - - - - - A protein complex that in its canonical form is composed of two identical immunoglobulin heavy chains and two identical immunoglobulin light chains, held together by disulfide bonds and sometimes complexed with additional proteins. An 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. - antibody - immunoglobulin complex + Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid dendritic cell activation. + down regulation of myeloid dendritic cell activation + down-regulation of myeloid dendritic cell activation + downregulation of myeloid dendritic cell activation + inhibition of myeloid dendritic cell activation + negative regulation of myeloid dendritic cell activation - + - - - Interacting selectively and non-covalently with a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. - vitamin binding + + + + + + + + + + + + + + + + + + + + + Any process that stimulates, induces or increases the rate of myeloid dendritic cell activation. + up regulation of myeloid dendritic cell activation + up-regulation of myeloid dendritic cell activation + upregulation of myeloid dendritic cell activation + activation of myeloid dendritic cell activation + stimulation of myeloid dendritic cell activation + positive regulation of myeloid dendritic cell activation - + - - - + + - + - The inner, i.e. lumen-facing, lipid bilayer of an organelle envelope; usually highly selective to most ions and metabolites. - organelle inner membrane - - - - - - - - - The chemical reactions and pathways involving pteridine, pyrazino(2,3-dipyrimidine), the parent structure of pterins and the pteroyl group. - pteridine metabolism - pteridine metabolic process + The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). + mesencephalon development + midbrain development - + - - + + + + + + + + + + + + + + - + - The accumulation and maintenance in cells or tissues of lipids, compounds soluble in organic solvents but insoluble or sparingly soluble in aqueous solvents. Lipid reserves can be accumulated during early developmental stages for mobilization and utilization at later stages of development. - lipid retention - retention of lipids - sequestration of lipids - storage of lipids - lipid sequestering - lipid sequestration - sequestering of lipids - sequestration of lipid - lipid storage + Any collagen trimer that passes through a lipid bilayer membrane. + MACIT + transmembrane collagen trimer - + - - - - A reproduction process that creates a new organism by combining the genetic material of two gametes, which may come from two organisms or from a single organism, in the case of self-fertilizing hermaphrodites, e.g. C. elegans, or self-fertilization in plants. It occurs both in eukaryotes and prokaryotes: in multicellular eukaryotic organisms, an individual is created anew; in prokaryotes, the initial cell has additional or transformed genetic material. In a process called genetic recombination, genetic material (DNA) originating from two gametes join up so that homologous sequences are aligned with each other, and this is followed by exchange of genetic information. After the new recombinant chromosome is formed, it is passed on to progeny. - sexual reproduction + + + + An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone. + Complex I + NADH dehydrogenase complex (plastoquinone) + NADH dehydrogenase complex (quinone) + NADH dehydrogenase complex (ubiquinone) + NADH:plastoquinone reductase complex + plastid NADH dehydrogenase complex (plastoquinone) + NADH dehydrogenase complex + + + + + + + + + A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. + intraflagellar transport complex + intraflagellar transport particle + IFT complex + intraciliary transport particle - + - - - Interacting selectively and non-covalently with a cytokine, any of a group of proteins that function to control the survival, growth and differentiation of tissues and cells, and which have autocrine and paracrine activity. - IL binding - interleukin binding - cytokine binding + + + A structure lying external to one or more cells, which provides structural support for cells or tissues. + extracellular matrix - + - - - - - - - - - + + + - + - The process whose specific outcome is the progression of the neural tube over time, from its formation to the mature structure. The mature structure of the neural tube exists when the tube has been segmented into the forebrain, midbrain, hindbrain and spinal cord regions. In addition neural crest has budded away from the epithelium. - neural tube development + A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. + intracellular membrane + organelle membrane - + - + + + A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). + platelet alpha-granule + platelet alpha granule + + + + + + + - + - - + + - + - - + + - The cellular process that ensures successive accurate and complete genome replication and chromosome segregation. - cell cycle process + A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). + developmental induction - + - + + + The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. + intrinsic to membrane + intrinsic component of membrane + + + + + + + - + - - + + - - - - - - - - Any process that modulates the frequency, rate or extent of attachment of a cell to another cell. - regulation of cell-cell adhesion + + + The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. + intrinsic to plasma membrane + intrinsic component of plasma membrane - + - + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a pseudopodium, a temporary protrusion or retractile process of a cell, associated with cellular movement. + pseudopodium organisation + pseudopodium organization and biogenesis + pseudopodium organization + + + + + + + - + - - + + - - + + - - + + - Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. - down regulation of cell-cell adhesion - down-regulation of cell-cell adhesion - downregulation of cell-cell adhesion - inhibition of cell-cell adhesion - negative regulation of cell-cell adhesion + The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. + intrinsic to organelle membrane + intrinsic component of organelle membrane - + - + - + - - + + - - - - - - - - - Any process that activates or increases the rate or extent of cell adhesion to another cell. - up regulation of cell-cell adhesion - up-regulation of cell-cell adhesion - upregulation of cell-cell adhesion - activation of cell-cell adhesion - stimulation of cell-cell adhesion - positive regulation of cell-cell adhesion + + + The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. + integral to organelle membrane + integral component of organelle membrane - + - - + + + + + + + + + + + + + - + - A behavioral process involved in the cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. - circadian sleep/wake cycle process + The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. + intrinsic to mitochondrial inner membrane + intrinsic component of mitochondrial inner membrane - + - + - + - + - - + + + The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. + integral to mitochondrial inner membrane + integral component of mitochondrial inner membrane + + + + + + + + + + + + + + + + + + + + - - + + - A process, occurring at the cellular level, that is involved in the reproductive function of a multicellular organism. - reproductive cellular process in multicellular organism - cellular process involved in reproduction in multicellular organism + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. + regulation of cellular metabolism + regulation of cellular metabolic process - + - + - - + + - + + + - - + + - A biological process that directly contributes to the process of producing new individuals by one or two organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. - single organism reproductive process - reproductive process + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. + down regulation of cellular metabolic process + down-regulation of cellular metabolic process + downregulation of cellular metabolic process + negative regulation of cellular metabolism + inhibition of cellular metabolic process + negative regulation of cellular metabolic process - + - + - + - - + + - + + + - - + + - A physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. - digestive system process + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. + positive regulation of cellular metabolism + up regulation of cellular metabolic process + up-regulation of cellular metabolic process + upregulation of cellular metabolic process + activation of cellular metabolic process + stimulation of cellular metabolic process + positive regulation of cellular metabolic process - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of anatomical structure morphogenesis. - regulation of morphogenesis - regulation of anatomical structure morphogenesis - - - - - - - - - The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions. - biological adhesion - - - - - - - - - Enables the transfer of a single solute from one side of a membrane to the other by a mechanism involving conformational change, either by facilitated diffusion or in a membrane potential dependent process if the solute is charged. - porters - uniporter activity z - facilitated diffusion - passive transmembrane transporter activity - - - - - - - - - - Enables the transmembrane transfer of an ion by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. - ionotropic neurotransmitter receptor activity - transmitter-gated ion channel activity - - - - - - - - - Enables the transport of a solute across a membrane via a large pore, un-gated channel. Examples include gap junctions, which transport substances from one cell to another; and porins which transport substances in and out of bacteria, mitochondria and chloroplasts. - non-gated, wide pore channel activity - gap junction activity - wide pore channel activity - - - - - - - - - Enables the transmembrane transfer of a solute by a channel whose open state is dependent on the voltage across the membrane in which it is embedded. - voltage-gated channel activity - - - - - - - - - Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. - ligand-gated channel activity - - - - - - - - - - Enables the transmembrane transfer of a solute by a channel that opens when a specific neurotransmitter has been bound by the channel complex or one of its constituent parts. - extracellular substance gated channel activity - neurotransmitter-gated channel activity - transmitter-gated channel activity - - - - - - - - - Enables the transmembrane transfer of a solute by a channel that opens in response to a specific stimulus. - gated channel activity - - - - - - - - - Enables the energy-independent facilitated diffusion, mediated by passage of a specific solute through a transmembrane aqueous pore or channel. Stereospecificity is not exhibited but this transport may be specific for a particular molecular species or class of molecules. - substrate-specific channel activity - - - - - - - - - - Enables the transmembrane transfer of a solute by a channel that opens in response to a specific ion stimulus. - ion gated channel activity - - - - - - - - - - Enables the transmembrane transfer of a cation by a voltage-gated channel. A cation is a positively charged ion. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. - voltage-gated cation channel activity - - - - - - - - - - - Selectively enables the transmembrane transfer of a cation by a channel that opens upon binding acetylcholine. - acetylcholine-activated cation-selective channel activity - acetylcholine-gated cation channel activity - iontropic acetylcholine receptor activity - nAChR - nicotinergic acetylcholine receptor activity - nicotinic acetylcholine-activated cation-selective channel activity - acetylcholine-gated cation-selective channel activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. + regulation of cellular anabolism + regulation of cellular biosynthesis + regulation of cellular formation + regulation of cellular synthesis + regulation of cellular biosynthetic process - + - - + + + + + + + + + + + + + + + - - + + - Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. - substrate-specific transporter activity - substrate-specific transmembrane transporter activity - uptake permease activity - uptake transmembrane transporter activity - transmembrane transporter activity + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. + down regulation of cellular biosynthetic process + down-regulation of cellular biosynthetic process + downregulation of cellular biosynthetic process + negative regulation of cellular anabolism + negative regulation of cellular biosynthesis + negative regulation of cellular formation + negative regulation of cellular synthesis + inhibition of cellular biosynthetic process + negative regulation of cellular biosynthetic process - + - - - - Enables the transfer of inorganic cations from one side of a membrane to the other. Inorganic cations are atoms or small molecules with a positive charge that do not contain carbon in covalent linkage. - di-, tri-valent inorganic cation transmembrane transporter activity - inorganic cation transmembrane transporter activity + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. + positive regulation of cellular anabolism + positive regulation of cellular biosynthesis + positive regulation of cellular formation + positive regulation of cellular synthesis + up regulation of cellular biosynthetic process + up-regulation of cellular biosynthetic process + upregulation of cellular biosynthetic process + activation of cellular biosynthetic process + stimulation of cellular biosynthetic process + positive regulation of cellular biosynthetic process - + - + - + - - + + - + - Any process that modulates the frequency, rate or extent of transmembrane transporter activity. - regulation of transmembrane transporter activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. + regulation of cellular breakdown + regulation of cellular catabolism + regulation of cellular degradation + regulation of cellular catabolic process - + - + - + - - + + - + + + - - + + - Any process that modulates the frequency, rate or extent of gene expression as a consequence of a process in which a signal is released and/or conveyed from one location to another. - regulation of gene expression as a consequence of signal transmission - signal transduction involved in regulation of gene expression + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. + down regulation of cellular catabolic process + down-regulation of cellular catabolic process + downregulation of cellular catabolic process + negative regulation of cellular breakdown + negative regulation of cellular catabolism + negative regulation of cellular degradation + inhibition of cellular catabolic process + negative regulation of cellular catabolic process - + - - - A series of molecular signals initiated by the binding of the cell surface receptor CD40 to one of its physiological ligands, and ending with regulation of a downstream cellular process, e.g. transcription. - CD40 signalling pathway - CD40 signaling pathway + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. + positive regulation of cellular breakdown + positive regulation of cellular catabolism + positive regulation of cellular degradation + up regulation of cellular catabolic process + up-regulation of cellular catabolic process + upregulation of cellular catabolic process + activation of cellular catabolic process + stimulation of cellular catabolic process + positive regulation of cellular catabolic process - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of a signaling process. - regulation of signaling process - regulation of signalling process - regulation of signaling + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. + regulation of sulfur amino acid metabolism + regulation of sulfur amino acid metabolic process - + - - - The entirety of a process in which information is transmitted within a biological system. This process begins with an active signal and ends when a cellular response has been triggered. - biological signaling - signaling process - signalling - signalling process - single organism signaling - signaling + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. + down regulation of sulfur amino acid metabolic process + down-regulation of sulfur amino acid metabolic process + downregulation of sulfur amino acid metabolic process + negative regulation of sulfur amino acid metabolism + inhibition of sulfur amino acid metabolic process + negative regulation of sulfur amino acid metabolic process - + - + - + - - + + + - + - Any process that activates, maintains or increases the frequency, rate or extent of a signaling process. - positive regulation of signalling process - positive regulation of signaling process - positive regulation of signaling + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. + positive regulation of sulfur amino acid metabolism + up regulation of sulfur amino acid metabolic process + up-regulation of sulfur amino acid metabolic process + upregulation of sulfur amino acid metabolic process + activation of sulfur amino acid metabolic process + stimulation of sulfur amino acid metabolic process + positive regulation of sulfur amino acid metabolic process - + - + - - + + - - + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of a signaling process. - negative regulation of signaling process - negative regulation of signalling process - negative regulation of signaling + Any process that modulates the frequency, rate or extent of cell killing, the process in which a cell brings about the death of another cell, either in the same or a different organism. + regulation of cell killing - + - + - + - - + + - + + - - + + - The process in which a signal is secreted or discharged into the extracellular medium from a cellular source. - signal secretion - signal release - - - - - - - - - The directed movement of metal ions, any metal ion with an electric charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - heavy metal ion transport - metal ion transport - - - - - - - - - - Any process involved in the maintenance of an internal steady state of cations at the level of a cell. - cellular cation homeostasis - - - - - - - - - A cellular component that forms a specialized region of connection between two or more cells or between a cell and the extracellular matrix. At a cell junction, anchoring proteins extend through the plasma membrane to link cytoskeletal proteins in one cell to cytoskeletal proteins in neighboring cells or to proteins in the extracellular matrix. - cell junction - - - - - - - - - - A cell-cell junction in which: on the cytoplasmic surface of each interacting plasma membrane is a dense plaque composed of a mixture of intracellular anchor proteins; a bundle of keratin intermediate filaments is attached to the surface of each plaque; transmembrane adhesion proteins of the cadherin family bind to the plaques and interact through their extracellular domains to hold the adjacent membranes together by a Ca2+-dependent mechanism. - macula adherens - spot desmosome - desmosome - - - - - - - - - - The regulated release of a peptide hormone from a cell. - peptide hormone secretion - - - - - - - - - The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. - blood cell biosynthesis - blood cell formation - haemopoiesis - hematopoiesis - hemopoiesis + Any process that stops, prevents, or reduces the frequency, rate or extent of cell killing. + down regulation of cell killing + down-regulation of cell killing + downregulation of cell killing + inhibition of cell killing + negative regulation of cell killing - + - - - - The process in which a relatively unspecialized precursor cell acquires specialized features of a lymphocyte. A lymphocyte is a leukocyte commonly found in the blood and lymph that has the characteristics of a large nucleus, a neutral staining cytoplasm, and prominent heterochromatin. - lymphocyte cell differentiation - lymphocytic blood cell differentiation - lymphocyte development - lymphocyte differentiation + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cell killing. + up regulation of cell killing + up-regulation of cell killing + upregulation of cell killing + activation of cell killing + stimulation of cell killing + positive regulation of cell killing - + - + - + - - + - Any process that modulates the frequency, rate or extent of endocytosis. - regulation of endocytosis + Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. + regulation of cell projection organisation + regulation of cell projection organization and biogenesis + regulation of cell projection organization - + - - + + + + + + + + + + + + + + - - + + - A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. - secretory vesicle - secretory granule + Any process that stops, prevents, or reduces the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. + down regulation of cell projection organization + down-regulation of cell projection organization + downregulation of cell projection organization + negative regulation of cell projection organisation + inhibition of cell projection organization + negative regulation of cell projection organization and biogenesis + negative regulation of cell projection organization - + - - - - - The chemical reactions and pathways resulting in the formation of sphingolipids, any of a class of lipids containing the long-chain amine diol sphingosine or a closely related base (a sphingoid). - sphingolipid anabolism - sphingolipid biosynthesis - sphingolipid formation - sphingolipid synthesis - sphingolipid biosynthetic process + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the process involved in the formation, arrangement of constituent parts, or disassembly of cell projections. + positive regulation of cell projection organisation + up regulation of cell projection organization + up-regulation of cell projection organization + upregulation of cell projection organization + activation of cell projection organization + stimulation of cell projection organization + positive regulation of cell projection organization and biogenesis + positive regulation of cell projection organization - + - - - The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. - cell differentiation + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of a defense response. + regulation of defense response - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of attachment of a cell to another cell or to the extracellular matrix. - cell adhesion receptor regulator activity - regulation of cell adhesion + Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. + down regulation of defense response + down-regulation of defense response + downregulation of defense response + inhibition of defense response + negative regulation of defense response - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of the hydrolysis of a peptide bond or bonds within a protein. - regulation of peptidolysis - regulation of proteolysis + Any process that activates or increases the frequency, rate or extent of a defense response. + up regulation of defense response + up-regulation of defense response + upregulation of defense response + activation of defense response + stimulation of defense response + positive regulation of defense response - + - + - + - - - - + - + - Any process that modulates the frequency, rate or extent of blood coagulation. - regulation of blood coagulation + Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. + regulation of protein modification process - + - + - - + + - - - - + + - - + + - Any process that activates or increases the frequency, rate or extent of blood coagulation. - up regulation of blood coagulation - up-regulation of blood coagulation - upregulation of blood coagulation - activation of blood coagulation - stimulation of blood coagulation - positive regulation of blood coagulation + Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. + down regulation of protein modification + down-regulation of protein modification + downregulation of protein modification + inhibition of protein modification + negative regulation of protein modification process - + - + - - + + - - - - + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of blood coagulation. - down regulation of blood coagulation - down-regulation of blood coagulation - downregulation of blood coagulation - inhibition of blood coagulation - negative regulation of blood coagulation + Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. + up regulation of protein modification + up-regulation of protein modification + upregulation of protein modification + activation of protein modification + stimulation of protein modification + positive regulation of protein modification process - + - - - The chemical reactions and pathways involving glycosaminoglycans, any one of a group of polysaccharides that contain amino sugars. Formerly known as mucopolysaccharides, they include hyaluronic acid and chondroitin, which provide lubrication in joints and form part of the matrix of cartilage. The three-dimensional structure of these molecules enables them to trap water, which forms a gel and gives glycosaminoglycans their elastic properties. - glycosaminoglycan metabolism - glycosaminoglycan metabolic process + + + + Interacting selectively and non-covalently with a carboxylic acid, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). + carboxylic acid binding - + - - - - The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. - hyaluronan metabolism - hyaluronan metabolic process + + + + + + + + + + + + + + + A vesicle found in the cytoplasm of a cell. + cytoplasmic membrane bounded vesicle + cytoplasmic membrane-enclosed vesicle + cytoplasmic, membrane-bounded vesicle + cytoplasmic vesicle - + - - - - The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. - T lymphocyte differentiation - T-cell differentiation - T-lymphocyte differentiation - T cell development - T cell differentiation + + + A localization process that acts on a protein complex; the complex is transported to, or maintained in, a specific location. + establishment and maintenance of protein complex localization + protein complex localisation + protein complex localization + protein-containing complex localization - + - - - The covalent alteration of one or more fatty acids in a lipid, resulting in a change in the properties of the lipid. - lipid modification + + + The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. + NMJ + motor endplate + neuromuscular junction - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of bone formation. - regulation of bone biosynthesis - regulation of bone formation - regulation of ossification + Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. + regulation of myelination - + - + - + - - + + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of bone formation. - down regulation of ossification - down-regulation of ossification - downregulation of ossification - negative regulation of bone biosynthesis - negative regulation of bone formation - inhibition of ossification - negative regulation of ossification - - - - - - - - - Any process involved in the controlled movement of a flagellated sperm cell. - sperm motility - sperm movement - flagellated sperm movement - flagellated sperm motility + Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. + down regulation of myelination + down-regulation of myelination + downregulation of myelination + inhibition of myelination + negative regulation of myelination - + - + - - + + - + + + + - - + + - Any process that modulates the frequency, rate or extent of cell migration. - regulation of cell migration + Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. + up regulation of myelination + up-regulation of myelination + upregulation of myelination + activation of myelination + stimulation of myelination + positive regulation of myelination - + - + - - + + - - + - - + + - Any process that activates or increases the frequency, rate or extent of cell migration. - up regulation of cell migration - up-regulation of cell migration - upregulation of cell migration - activation of cell migration - stimulation of cell migration - positive regulation of cell migration + Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of neurological system. + regulation of neurological process + regulation of neurophysiological process + regulation of neurological system process - + - + - + - - + + - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. - down regulation of cell migration - down-regulation of cell migration - downregulation of cell migration - inhibition of cell migration - negative regulation of cell migration - - - - - - - - - - - - + - Catalysis of the reaction: vitamin D3 + NADPH + H+ + O2 = calcidiol + NADP+ + H2O. - cholecalciferol 25-hydroxylase activity - vitamin D3 25-hydroxylase activity - - - - - - - - - The expulsion of feces from the rectum. - defecation - - - - - - - - - The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. - axon - - - - - - - - - Any process in which an organism enters and maintains a periodic, readily reversible state of reduced awareness and metabolic activity. Usually accompanied by physical relaxation, the onset of sleep in humans and other mammals is marked by a change in the electrical activity of the brain. - diapause - dormancy - lethargus - sleep + Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. + down regulation of neurological process + down-regulation of neurological process + downregulation of neurological process + negative regulation of neurological process + negative regulation of neurophysiological process + inhibition of neurological process + negative regulation of neurological system process - + - + - - + + - - - - - + + - - + + - Any process that modulates the frequency, rate or extent of complement activation. - regulation of complement cascade - regulation of complement activation - - - - - - - - - - A series of molecular signals generated as a consequence of a intracellular steroid hormone receptor binding to one of its physiological ligands. - steroid hormone receptor signaling pathway - steroid hormone receptor signalling pathway - intracellular steroid hormone receptor signaling pathway - - - - - - - - - Any series of molecular signals generated as a consequence of an androgen binding to its receptor. - androgen receptor signalling pathway - androgen receptor signaling pathway - - - - - - - - - Any series of molecular signals initiated by a ligand binding to an receptor located within a cell. - intracellular receptor mediated signaling pathway - intracellular receptor-mediated signaling pathway - intracellular receptor-mediated signalling pathway - intracellular receptor signaling pathway + Any process that activates or increases the frequency, rate or extent of a neurophysiological process. + positive regulation of neurological process + positive regulation of neurophysiological process + up regulation of neurological process + up-regulation of neurological process + upregulation of neurological process + activation of neurological process + stimulation of neurological process + positive regulation of neurological system process - + - - - - - - - - - - - - - - - The function of interacting (directly or indirectly) with receptors such that the proportion of receptors in the active form is changed. - receptor regulator activity + + + 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 stimulus reflecting the presence, absence, or concentration of nutrients. + response to nutrient levels - + - - - - - - - - - Combining with a neurotransmitter and transmitting the signal to initiate a change in cell activity. - neurotransmitter receptor activity + + + + + + 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 extracellular stimulus. + cellular response to extracellular stimulus - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a vitamin, one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. - regulation of vitamin metabolism - regulation of vitamin metabolic process + + + + 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 stimulus reflecting the presence, absence, or concentration of nutrients. + cellular response to nutrient levels - + - - - The process of binding or confining any triester of glycerol such that it is separated from other components of a biological system. - retention of triacylglycerol - retention of triglyceride - sequestering of triacylglycerol - sequestration of triacylglycerol - sequestration of triglyceride - storage of triacylglycerol - storage of triglyceride - triacylglycerol retention - triacylglycerol sequestering - triacylglycerol sequestration - triacylglycerol storage - triglyceride retention - triglyceride sequestering - triglyceride sequestration - triglyceride storage - sequestering of triglyceride + + + + + 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 nutrient stimulus. + cellular response to nutrient - + - + - + - - + + + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. - regulation of nucleotide anabolism - regulation of nucleotide biosynthesis - regulation of nucleotide formation - regulation of nucleotide synthesis - regulation of nucleotide biosynthetic process + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. + regulation of glucocorticoid metabolism + regulation of glucocorticoid metabolic process - + - + - + - - - + + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. - down regulation of nucleotide biosynthetic process - down-regulation of nucleotide biosynthetic process - downregulation of nucleotide biosynthetic process - negative regulation of nucleotide anabolism - negative regulation of nucleotide biosynthesis - negative regulation of nucleotide formation - negative regulation of nucleotide synthesis - inhibition of nucleotide biosynthetic process - negative regulation of nucleotide biosynthetic process + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. + down regulation of glucocorticoid metabolic process + down-regulation of glucocorticoid metabolic process + downregulation of glucocorticoid metabolic process + negative regulation of glucocorticoid metabolism + inhibition of glucocorticoid metabolic process + negative regulation of glucocorticoid metabolic process - + - + - + - - - + + + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of nucleotides. - positive regulation of nucleotide anabolism - positive regulation of nucleotide biosynthesis - positive regulation of nucleotide formation - positive regulation of nucleotide synthesis - up regulation of nucleotide biosynthetic process - up-regulation of nucleotide biosynthetic process - upregulation of nucleotide biosynthetic process - activation of nucleotide biosynthetic process - stimulation of nucleotide biosynthetic process - positive regulation of nucleotide biosynthetic process + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. + positive regulation of glucocorticoid metabolism + up regulation of glucocorticoid metabolic process + up-regulation of glucocorticoid metabolic process + upregulation of glucocorticoid metabolic process + activation of glucocorticoid metabolic process + stimulation of glucocorticoid metabolic process + positive regulation of glucocorticoid metabolic process - + - + - + - - - + + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. - regulation of nucleotide breakdown - regulation of nucleotide catabolism - regulation of nucleotide degradation - regulation of nucleotide catabolic process + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. + regulation of glucocorticoid biosynthetic process - + - + - + - - - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. - down regulation of nucleotide catabolic process - down-regulation of nucleotide catabolic process - downregulation of nucleotide catabolic process - negative regulation of nucleotide breakdown - negative regulation of nucleotide catabolism - negative regulation of nucleotide degradation - inhibition of nucleotide catabolic process - negative regulation of nucleotide catabolic process + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. + down regulation of glucocorticoid biosynthetic process + down-regulation of glucocorticoid biosynthetic process + downregulation of glucocorticoid biosynthetic process + inhibition of glucocorticoid biosynthetic process + negative regulation of glucocorticoid biosynthetic process - + - + - + - - - - + + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of nucleotides. - positive regulation of nucleotide breakdown - positive regulation of nucleotide catabolism - positive regulation of nucleotide degradation - up regulation of nucleotide catabolic process - up-regulation of nucleotide catabolic process - upregulation of nucleotide catabolic process - activation of nucleotide catabolic process - stimulation of nucleotide catabolic process - positive regulation of nucleotide catabolic process - - - - - - - - - Any chromosome other than a sex chromosome. - autosome + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. + up regulation of glucocorticoid biosynthetic process + up-regulation of glucocorticoid biosynthetic process + upregulation of glucocorticoid biosynthetic process + activation of glucocorticoid biosynthetic process + stimulation of glucocorticoid biosynthetic process + positive regulation of glucocorticoid biosynthetic process - + - - - The process whose specific outcome is the progression of the mammary gland over time, from its formation to the mature structure. The mammary gland is a large compound sebaceous gland that in female mammals is modified to secrete milk. Its development starts with the formation of the mammary line and ends as the mature gland cycles between nursing and weaning stages. - mammogenesis - mammary gland development + + + + + + + + + + Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. + mitochondrial membrane - + - - + + + - + - The process whose specific outcome is the progression of the midbrain over time, from its formation to the mature structure. The midbrain is the middle division of the three primary divisions of the developing chordate brain or the corresponding part of the adult brain (in vertebrates, includes a ventral part containing the cerebral peduncles and a dorsal tectum containing the corpora quadrigemina and that surrounds the aqueduct of Sylvius connecting the third and fourth ventricles). - mesencephalon development - midbrain development + A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes. + organelle envelope - + - + + + The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. + membrane-enclosed lumen + + + + + + + + + A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. + envelope + + + + + + + + + + The volume enclosed by the nuclear inner membrane. + nuclear lumen + + + + + + + + + Any small, fluid-filled, spherical organelle enclosed by membrane. + membrane-bounded vesicle + membrane-enclosed vesicle + vesicle + + + + + + + - + - - + + - - + + + - - + + - Any collagen trimer that passes through a lipid bilayer membrane. - MACIT - transmembrane collagen trimer - - - - - - - - - - An integral membrane complex that possesses NADH oxidoreductase activity. The complex is one of the components of the electron transport chain. It catalyzes the transfer of a pair of electrons from NADH to a quinone. - Complex I - NADH dehydrogenase complex (plastoquinone) - NADH dehydrogenase complex (quinone) - NADH dehydrogenase complex (ubiquinone) - NADH:plastoquinone reductase complex - plastid NADH dehydrogenase complex (plastoquinone) - NADH dehydrogenase complex + Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. + up regulation of insulin secretion + up-regulation of insulin secretion + upregulation of insulin secretion + activation of insulin secretion + stimulation of insulin secretion + positive regulation of insulin secretion - + - - - A nonmembrane-bound oligomeric protein complex that participates in bidirectional transport of molecules (cargo) along axonemal microtubules. - intraflagellar transport complex - intraflagellar transport particle - IFT complex - intraciliary transport particle + + + + + + + + + + + + + + + + + + + + + + + + + + The chemical reactions and pathways involving mitochondrial DNA. + mitochondrial DNA metabolism + mtDNA metabolic process + mtDNA metabolism + mitochondrial DNA metabolic process - + - - - A structure lying external to one or more cells, which provides structural support for cells or tissues. - extracellular matrix + + + The assembly of a bleb, a cell extension caused by localized decoupling of the cytoskeleton from the plasma membrane and characterized by rapid formation, rounded shape, and scarcity of organelles within the protrusion. Plasma membrane blebbing occurs during apoptosis and other cellular processes, including cell locomotion, cell division, and as a result of physical or chemical stresses. + blebbing + membrane blebbing + cell blebbing + plasma membrane bleb assembly + plasma membrane blebbing + bleb assembly - + - - - + + + + + + + + + + + + + + - - + + - A membrane that is one of the two lipid bilayers of an organelle envelope or the outermost membrane of single membrane bound organelle. - intracellular membrane - organelle membrane - - - - - - - - - A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms: (1) biosynthesis predominantly at the megakaryocyte (MK) level (with some vestigial platelet synthesis) (e.g. platelet factor 4) and (2) endocytosis and pinocytosis at both the MK and circulating platelet levels (e.g. fibrinogen (Fg) and IgG). - platelet alpha-granule - platelet alpha granule + Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. + down regulation of protein binding + down-regulation of protein binding + downregulation of protein binding + inhibition of protein binding + negative regulation of protein binding - + - + - + - - + + - + + - - + + - A developmental process involving two tissues in which one tissue (the inducer) produces a signal that directs cell fate commitment of cells in the second tissue (the responder). - developmental induction + Any process that activates or increases the frequency, rate or extent of protein binding. + up regulation of protein binding + up-regulation of protein binding + upregulation of protein binding + activation of protein binding + stimulation of protein binding + positive regulation of protein binding - + - - - The component of a membrane consisting of the gene products having some covalently attached portion, for example part of a peptide sequence or some other covalently attached group such as a GPI anchor, which spans or is embedded in one or both leaflets of the membrane. - intrinsic to membrane - intrinsic component of membrane + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of a response to an external stimulus. + regulation of response to external stimulus - + - + - + - - + + - - - The component of the plasma membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. - intrinsic to plasma membrane - intrinsic component of plasma membrane + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. + down regulation of response to external stimulus + down-regulation of response to external stimulus + downregulation of response to external stimulus + inhibition of response to external stimulus + negative regulation of response to external stimulus - + - + - + - - + + - - + + - - + + - The component of the organelle membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. - intrinsic to organelle membrane - intrinsic component of organelle membrane + Any process that activates, maintains or increases the rate of a response to an external stimulus. + up regulation of response to external stimulus + up-regulation of response to external stimulus + upregulation of response to external stimulus + activation of response to external stimulus + stimulation of response to external stimulus + positive regulation of response to external stimulus - + - + - + - - + + - - - The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. - integral to organelle membrane - integral component of organelle membrane + + + + + + + + Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. + regulation of response to extracellular stimulus - + - + - + - - + + - + + - - + + - The component of the mitochondrial inner membrane consisting of the gene products and protein complexes having either part of their peptide sequence embedded in the hydrophobic region of the membrane or some other covalently attached group such as a GPI anchor that is similarly embedded in the membrane. - intrinsic to mitochondrial inner membrane - intrinsic component of mitochondrial inner membrane + Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. + down regulation of response to extracellular stimulus + down-regulation of response to extracellular stimulus + downregulation of response to extracellular stimulus + inhibition of response to extracellular stimulus + negative regulation of response to extracellular stimulus - + - + - + - - + + - - - The component of the mitochondrial inner membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. - integral to mitochondrial inner membrane - integral component of mitochondrial inner membrane + + + + + + + + + Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. + up regulation of response to extracellular stimulus + up-regulation of response to extracellular stimulus + upregulation of response to extracellular stimulus + activation of response to extracellular stimulus + stimulation of response to extracellular stimulus + positive regulation of response to extracellular stimulus - + - + - + - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. - regulation of cellular metabolism - regulation of cellular metabolic process + Any process that modulates the frequency, rate or extent of a response to nutrient levels. + regulation of response to nutrient levels - + - + - + - - - + + - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. - down regulation of cellular metabolic process - down-regulation of cellular metabolic process - downregulation of cellular metabolic process - negative regulation of cellular metabolism - inhibition of cellular metabolic process - negative regulation of cellular metabolic process + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. + down regulation of response to nutrient levels + down-regulation of response to nutrient levels + downregulation of response to nutrient levels + inhibition of response to nutrient levels + negative regulation of response to nutrient levels - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances. - positive regulation of cellular metabolism - up regulation of cellular metabolic process - up-regulation of cellular metabolic process - upregulation of cellular metabolic process - activation of cellular metabolic process - stimulation of cellular metabolic process - positive regulation of cellular metabolic process + Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. + up regulation of response to nutrient levels + up-regulation of response to nutrient levels + upregulation of response to nutrient levels + activation of response to nutrient levels + stimulation of response to nutrient levels + positive regulation of response to nutrient levels - + - + + + + + + + + + + + Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. + riboflavin transporter activity + riboflavin transmembrane transporter activity + + + + + + + + + + + + The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. + riboflavin transport + + + + + + + - + - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. - regulation of cellular anabolism - regulation of cellular biosynthesis - regulation of cellular formation - regulation of cellular synthesis - regulation of cellular biosynthetic process + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. + regulation of cellular protein metabolism + regulation of cellular protein metabolic process - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. - down regulation of cellular biosynthetic process - down-regulation of cellular biosynthetic process - downregulation of cellular biosynthetic process - negative regulation of cellular anabolism - negative regulation of cellular biosynthesis - negative regulation of cellular formation - negative regulation of cellular synthesis - inhibition of cellular biosynthetic process - negative regulation of cellular biosynthetic process + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. + down regulation of cellular protein metabolic process + down-regulation of cellular protein metabolic process + downregulation of cellular protein metabolic process + negative regulation of cellular protein metabolism + inhibition of cellular protein metabolic process + negative regulation of cellular protein metabolic process - + - + - + - - + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. - positive regulation of cellular anabolism - positive regulation of cellular biosynthesis - positive regulation of cellular formation - positive regulation of cellular synthesis - up regulation of cellular biosynthetic process - up-regulation of cellular biosynthetic process - upregulation of cellular biosynthetic process - activation of cellular biosynthetic process - stimulation of cellular biosynthetic process - positive regulation of cellular biosynthetic process + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. + positive regulation of cellular protein metabolism + up regulation of cellular protein metabolic process + up-regulation of cellular protein metabolic process + upregulation of cellular protein metabolic process + activation of cellular protein metabolic process + stimulation of cellular protein metabolic process + positive regulation of cellular protein metabolic process - + - + - + - - + + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. - regulation of cellular breakdown - regulation of cellular catabolism - regulation of cellular degradation - regulation of cellular catabolic process + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone. + regulation of hormone metabolism + regulation of hormone metabolic process - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. - down regulation of cellular catabolic process - down-regulation of cellular catabolic process - downregulation of cellular catabolic process - negative regulation of cellular breakdown - negative regulation of cellular catabolism - negative regulation of cellular degradation - inhibition of cellular catabolic process - negative regulation of cellular catabolic process + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any hormone. + down regulation of hormone metabolic process + down-regulation of hormone metabolic process + downregulation of hormone metabolic process + negative regulation of hormone metabolism + inhibition of hormone metabolic process + negative regulation of hormone metabolic process - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. - positive regulation of cellular breakdown - positive regulation of cellular catabolism - positive regulation of cellular degradation - up regulation of cellular catabolic process - up-regulation of cellular catabolic process - upregulation of cellular catabolic process - activation of cellular catabolic process - stimulation of cellular catabolic process - positive regulation of cellular catabolic process + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone. + positive regulation of hormone metabolism + up regulation of hormone metabolic process + up-regulation of hormone metabolic process + upregulation of hormone metabolic process + activation of hormone metabolic process + stimulation of hormone metabolic process + positive regulation of hormone metabolic process - + - + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. + down regulation of hormone biosynthetic process + down-regulation of hormone biosynthetic process + downregulation of hormone biosynthetic process + inhibition of hormone biosynthetic process + negative regulation of hormone biosynthetic process + + + + + + + - + - - + + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. - regulation of sulfur amino acid metabolism - regulation of sulfur amino acid metabolic process + Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of lipid transport - + - + - + - - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. - down regulation of sulfur amino acid metabolic process - down-regulation of sulfur amino acid metabolic process - downregulation of sulfur amino acid metabolic process - negative regulation of sulfur amino acid metabolism - inhibition of sulfur amino acid metabolic process - negative regulation of sulfur amino acid metabolic process + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + down regulation of lipid transport + down-regulation of lipid transport + downregulation of lipid transport + inhibition of lipid transport + negative regulation of lipid transport - + - + - + - - - + + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving sulfur amino acids. - positive regulation of sulfur amino acid metabolism - up regulation of sulfur amino acid metabolic process - up-regulation of sulfur amino acid metabolic process - upregulation of sulfur amino acid metabolic process - activation of sulfur amino acid metabolic process - stimulation of sulfur amino acid metabolic process - positive regulation of sulfur amino acid metabolic process + Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + up regulation of lipid transport + up-regulation of lipid transport + upregulation of lipid transport + activation of lipid transport + stimulation of lipid transport + positive regulation of lipid transport - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of a defense response. - regulation of defense response + Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. + regulation of intracellular transport - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of a defense response. - down regulation of defense response - down-regulation of defense response - downregulation of defense response - inhibition of defense response - negative regulation of defense response + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. + down regulation of intracellular transport + down-regulation of intracellular transport + downregulation of intracellular transport + inhibition of intracellular transport + negative regulation of intracellular transport - + - + - + - - + + - + - Any process that activates or increases the frequency, rate or extent of a defense response. - up regulation of defense response - up-regulation of defense response - upregulation of defense response - activation of defense response - stimulation of defense response - positive regulation of defense response + Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. + up regulation of intracellular transport + up-regulation of intracellular transport + upregulation of intracellular transport + activation of intracellular transport + stimulation of intracellular transport + positive regulation of intracellular transport - + - + - + - + - + - Any process that modulates the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. - regulation of protein modification process + Any process that modulates the activity of a transporter. + regulation of transporter activity - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. - down regulation of protein modification - down-regulation of protein modification - downregulation of protein modification - inhibition of protein modification - negative regulation of protein modification process + Any process that stops or reduces the activity of a transporter. + down regulation of transporter activity + down-regulation of transporter activity + downregulation of transporter activity + inhibition of transporter activity + negative regulation of transporter activity - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate or extent of the covalent alteration of one or more amino acid residues within a protein. - up regulation of protein modification - up-regulation of protein modification - upregulation of protein modification - activation of protein modification - stimulation of protein modification - positive regulation of protein modification process - - - - - - - - - - Interacting selectively and non-covalently with a carboxylic acid, any organic acid containing one or more carboxyl (COOH) groups or anions (COO-). - carboxylic acid binding - - - - - - - - - - - - - - - - - - - - - A vesicle found in the cytoplasm of a cell. - cytoplasmic membrane bounded vesicle - cytoplasmic membrane-enclosed vesicle - cytoplasmic, membrane-bounded vesicle - cytoplasmic vesicle - - - - - - - - - The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. - NMJ - motor endplate - neuromuscular junction + Any process that activates or increases the activity of a transporter. + up regulation of transporter activity + up-regulation of transporter activity + upregulation of transporter activity + activation of transporter activity + stimulation of transporter activity + positive regulation of transporter activity - + - + - + - - + + - + - Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons. - regulation of myelination + Any process that modulates the activity of an ion transporter. + regulation of ion transporter activity + regulation of ion transmembrane transporter activity - + - + - + - - - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the formation of a myelin sheath around nerve axons. - down regulation of myelination - down-regulation of myelination - downregulation of myelination - inhibition of myelination - negative regulation of myelination + Any process that stops or reduces the activity of an ion transporter. + down regulation of ion transporter activity + down-regulation of ion transporter activity + downregulation of ion transporter activity + negative regulation of ion transporter activity + inhibition of ion transporter activity + negative regulation of ion transmembrane transporter activity - + - + - + - - - - + + + - + - Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. - up regulation of myelination - up-regulation of myelination - upregulation of myelination - activation of myelination - stimulation of myelination - positive regulation of myelination + Any process that activates or increases the activity of an ion transporter. + positive regulation of ion transporter activity + up regulation of ion transporter activity + up-regulation of ion transporter activity + upregulation of ion transporter activity + activation of ion transporter activity + stimulation of ion transporter activity + positive regulation of ion transmembrane transporter activity - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate or extent of a neurophysiological process, an organ system process carried out by any of the organs or tissues of neurological system. - regulation of neurological process - regulation of neurophysiological process - regulation of neurological system process + Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings. + Golgi calcium ion concentration regulation + calcium ion homeostasis in Golgi + regulation of Golgi calcium ion concentration + regulation of calcium ion concentration in Golgi + Golgi calcium ion homeostasis - + - + + + Any biological process, occurring at the level of a multicellular organism, pertinent to its function. + organismal physiological process + single-multicellular organism process + multicellular organismal process + + + + + + + + + A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. + development + single-organism developmental process + developmental process + + + + + + + + + + The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. + multicellular organism reproduction + + + + + + + - + - - + + - - - - - - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of a neurophysiological process. - down regulation of neurological process - down-regulation of neurological process - downregulation of neurological process - negative regulation of neurological process - negative regulation of neurophysiological process - inhibition of neurological process - negative regulation of neurological system process + + + The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. + integral to mitochondrial membrane + integral component of mitochondrial membrane - + - + - + - - + + - - - - - - - - - Any process that activates or increases the frequency, rate or extent of a neurophysiological process. - positive regulation of neurological process - positive regulation of neurophysiological process - up regulation of neurological process - up-regulation of neurological process - upregulation of neurological process - activation of neurological process - stimulation of neurological process - positive regulation of neurological system process - - - - - - - - - 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 stimulus reflecting the presence, absence, or concentration of nutrients. - response to nutrient levels - - - - - - - - - - - - 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 extracellular stimulus. - cellular response to extracellular 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 stimulus reflecting the presence, absence, or concentration of nutrients. - cellular response to nutrient levels + + + + The directed movement of a protein from one location to another within a lipid bilayer. + protein translocation within membrane + receptor translocation within membrane + receptor transport within lipid bilayer + protein transport within lipid bilayer - + - - - - - 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 nutrient stimulus. - cellular response to nutrient + + + The appearance of interferon-gamma due to biosynthesis or secretion following a cellular stimulus, resulting in an increase in its intracellular or extracellular levels. Interferon-gamma is also known as type II interferon. + type II IFN production + type II interferon production + IFNG production + interferon-gamma production - + - + - + - - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. - regulation of glucocorticoid metabolism - regulation of glucocorticoid metabolic process + Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. + regulation of type II interferon production + regulation of interferon-gamma production - + - + - + - - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. - down regulation of glucocorticoid metabolic process - down-regulation of glucocorticoid metabolic process - downregulation of glucocorticoid metabolic process - negative regulation of glucocorticoid metabolism - inhibition of glucocorticoid metabolic process - negative regulation of glucocorticoid metabolic process + Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. + negative regulation of type II interferon production + down regulation of interferon-gamma production + down-regulation of interferon-gamma production + downregulation of interferon-gamma production + inhibition of interferon-gamma production + negative regulation of interferon-gamma production - + - + - + - - - - + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving glucocorticoids. - positive regulation of glucocorticoid metabolism - up regulation of glucocorticoid metabolic process - up-regulation of glucocorticoid metabolic process - upregulation of glucocorticoid metabolic process - activation of glucocorticoid metabolic process - stimulation of glucocorticoid metabolic process - positive regulation of glucocorticoid metabolic process + Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon. + positive regulation of type II interferon production + up regulation of interferon-gamma production + up-regulation of interferon-gamma production + upregulation of interferon-gamma production + activation of interferon-gamma production + stimulation of interferon-gamma production + positive regulation of interferon-gamma production - + - + - + - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. - regulation of glucocorticoid biosynthetic process + Any process that modulates the activity of a monooxygenase. + regulation of monooxygenase activity - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. - down regulation of glucocorticoid biosynthetic process - down-regulation of glucocorticoid biosynthetic process - downregulation of glucocorticoid biosynthetic process - inhibition of glucocorticoid biosynthetic process - negative regulation of glucocorticoid biosynthetic process + Any process that stops or reduces the activity of a monooxygenase. + down regulation of monooxygenase activity + down-regulation of monooxygenase activity + downregulation of monooxygenase activity + inhibition of monooxygenase activity + negative regulation of monooxygenase activity - + - + - + - - - + + - - - - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glucocorticoids. - up regulation of glucocorticoid biosynthetic process - up-regulation of glucocorticoid biosynthetic process - upregulation of glucocorticoid biosynthetic process - activation of glucocorticoid biosynthetic process - stimulation of glucocorticoid biosynthetic process - positive regulation of glucocorticoid biosynthetic process - - - - - - - - - - - - - + - Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. - mitochondrial membrane + Any process that activates or increases the activity of a monooxygenase. + up regulation of monooxygenase activity + up-regulation of monooxygenase activity + upregulation of monooxygenase activity + activation of monooxygenase activity + stimulation of monooxygenase activity + positive regulation of monooxygenase activity - + - - - - - - - - - - A double membrane structure enclosing an organelle, including two lipid bilayers and the region between them. In some cases, an organelle envelope may have more than two membranes. - organelle envelope + + + + + The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. + RNA anabolism + RNA biosynthesis + RNA formation + RNA synthesis + RNA biosynthetic process - + - - - The enclosed volume within a sealed membrane or between two sealed membranes. Encompasses the volume enclosed by the membranes of a particular organelle, e.g. endoplasmic reticulum lumen, or the space between the two lipid bilayers of a double membrane surrounding an organelle, e.g. nuclear envelope lumen. - membrane-enclosed lumen + + + The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). + monocarboxylate metabolic process + monocarboxylic acid metabolism + monocarboxylic acid metabolic process - + - - - A multilayered structure surrounding all or part of a cell; encompasses one or more lipid bilayers, and may include a cell wall layer; also includes the space between layers. - envelope + + + + + + + + + + + + + + + All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. + plasma membrane bounded cell projection cytoplasm - + - - - - The volume enclosed by the nuclear inner membrane. - nuclear lumen + + + + + 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 hormone stimulus. + cellular response to hormone stimulus - + - - - Any small, fluid-filled, spherical organelle enclosed by membrane. - membrane-bounded vesicle - membrane-enclosed vesicle - vesicle + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. + regulation of localisation + regulation of localization - + - + - + - - + + - - - - - - - + - - + + - The chemical reactions and pathways involving mitochondrial DNA. - mitochondrial DNA metabolism - mtDNA metabolic process - mtDNA metabolism - mitochondrial DNA metabolic process + Any process that modulates the frequency, rate or extent of any process in which a protein is transported to, or maintained in, a specific location. + regulation of protein localisation + regulation of protein localization - + - + - - + + - - + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of protein binding. - down regulation of protein binding - down-regulation of protein binding - downregulation of protein binding - inhibition of protein binding - negative regulation of protein binding + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. + regulation of polysaccharide metabolic process - + - + - - + + - - + - - + + - Any process that activates or increases the frequency, rate or extent of protein binding. - up regulation of protein binding - up-regulation of protein binding - upregulation of protein binding - activation of protein binding - stimulation of protein binding - positive regulation of protein binding + Any process that modulates the frequency, rate or extent of any cellular process that depends upon or alters the microtubule cytoskeleton. + regulation of microtubule-based process - + - + - + - + - + - Any process that modulates the frequency, rate or extent of a response to an external stimulus. - regulation of response to external stimulus + Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of organic acid transport - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an external stimulus. - down regulation of response to external stimulus - down-regulation of response to external stimulus - downregulation of response to external stimulus - inhibition of response to external stimulus - negative regulation of response to external stimulus + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + down regulation of organic acid transport + down-regulation of organic acid transport + downregulation of organic acid transport + inhibition of organic acid transport + negative regulation of organic acid transport - + - + - + - - + + - + - Any process that activates, maintains or increases the rate of a response to an external stimulus. - up regulation of response to external stimulus - up-regulation of response to external stimulus - upregulation of response to external stimulus - activation of response to external stimulus - stimulation of response to external stimulus - positive regulation of response to external stimulus + Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + up regulation of organic acid transport + up-regulation of organic acid transport + upregulation of organic acid transport + activation of organic acid transport + stimulation of organic acid transport + positive regulation of organic acid transport - + - + + + + The controlled release of a substance by a cell. + cellular secretion + secretion by cell + + + + + + + + + + The controlled release of a substance by a tissue. + tissue secretion + expulsion of gland contents + secretion by tissue + + + + + + + + + + + The process in which cellular structures, including whole cells or cell parts, are generated and organized. + cellular structure morphogenesis + cellular component morphogenesis + + + + + + + + + A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. + macromolecular complex + macromolecule complex + protein containing complex + protein complex + protein-protein complex + protein-containing complex + + + + + + + + + A protein complex composed of a subunit or subunits capable of binding the Fc portion of an immunoglobulin with additional signaling components. The complex functions as a receptor for immunoglobulin. + immunoglobulin receptor complex + Fc-receptor complex + FcR complex + Fc receptor complex + + + + + + + + + A protein complex composed of an Fc-gamma RIII alpha chain and an Fc-epsilon RI gamma chain dimer with or without an Fc-epsilon RI beta chain and additional signaling components. The complex functions primarily as an activating receptor for IgG. + IgG receptor complex + immunoglobulin G receptor complex + FcgRIII complex + Fc-gamma receptor III complex + + + + + + + - + - + - + - Any process that modulates the frequency, rate or extent of a response to an extracellular stimulus. - regulation of response to extracellular stimulus + Any process that modulates the frequency, rate, or extent of mast cell activation. + regulation of mast cell activation - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of a response to an extracellular stimulus. - down regulation of response to extracellular stimulus - down-regulation of response to extracellular stimulus - downregulation of response to extracellular stimulus - inhibition of response to extracellular stimulus - negative regulation of response to extracellular stimulus + Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation. + negative regulation of mast cell activation - + - + - + - - + + - + - Any process that activates, maintains or increases the rate of a response to an extracellular stimulus. - up regulation of response to extracellular stimulus - up-regulation of response to extracellular stimulus - upregulation of response to extracellular stimulus - activation of response to extracellular stimulus - stimulation of response to extracellular stimulus - positive regulation of response to extracellular stimulus + Any process that activates or increases the frequency, rate, or extent of mast cell activation. + positive regulation of mast cell activation - + - + - + - + + + - + - Any process that modulates the frequency, rate or extent of a response to nutrient levels. - regulation of response to nutrient levels + Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response. + regulation of mast cell activation during immune response + regulation of mast cell activation involved in immune response - + - + - + - - + + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of a response to nutrient levels. - down regulation of response to nutrient levels - down-regulation of response to nutrient levels - downregulation of response to nutrient levels - inhibition of response to nutrient levels - negative regulation of response to nutrient levels + Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response. + negative regulation of mast cell activation during immune response + negative regulation of mast cell activation involved in immune response - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate or extent of a response to nutrient levels. - up regulation of response to nutrient levels - up-regulation of response to nutrient levels - upregulation of response to nutrient levels - activation of response to nutrient levels - stimulation of response to nutrient levels - positive regulation of response to nutrient levels + Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response. + positive regulation of mast cell activation during immune response + positive regulation of mast cell activation involved in immune response - + - - - - - - - - - - - Enables the transfer of riboflavin from one side of a membrane to the other. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. - riboflavin transporter activity - riboflavin transmembrane transporter activity + + + + + + The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. + tetrapyrrole metabolism + tetrapyrrole metabolic process - + - - - - - - The directed movement of riboflavin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Riboflavin (vitamin B2) is a water-soluble B-complex vitamin, converted in the cell to FMN and FAD, cofactors required for the function of flavoproteins. - riboflavin transport + + + Any process in which a macromolecule is transported to, or maintained in, a specific location. + macromolecule localisation + macromolecule localization - + - + - + - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. - regulation of cellular protein metabolism - regulation of cellular protein metabolic process + Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. + regulation of organelle organisation + regulation of organelle organization and biogenesis + regulation of organelle organization - + - + - - + + - - - + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. - down regulation of cellular protein metabolic process - down-regulation of cellular protein metabolic process - downregulation of cellular protein metabolic process - negative regulation of cellular protein metabolism - inhibition of cellular protein metabolic process - negative regulation of cellular protein metabolic process + Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a chromosome. + regulation of chromosome organisation + regulation of chromosome organization and biogenesis + regulation of chromosome organization - + - + - - + + - - - + + + - - + + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving a protein, occurring at the level of an individual cell. - positive regulation of cellular protein metabolism - up regulation of cellular protein metabolic process - up-regulation of cellular protein metabolic process - upregulation of cellular protein metabolic process - activation of cellular protein metabolic process - stimulation of cellular protein metabolic process - positive regulation of cellular protein metabolic process + Any process that modulates the frequency, rate or extent of sister chromatid segregation. + regulation of sister chromatid segregation - + - + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation. + negative regulation of sister chromatid segregation + + + + + + + - + - - + + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving any hormone. - regulation of hormone metabolism - regulation of hormone metabolic process + Any process that modulates the frequency, rate or extent of sister chromatid segregation during mitosis. + regulation of mitotic sister chromatid segregation - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving any hormone. - down regulation of hormone metabolic process - down-regulation of hormone metabolic process - downregulation of hormone metabolic process - negative regulation of hormone metabolism - inhibition of hormone metabolic process - negative regulation of hormone metabolic process + Any process that stops, prevents, or reduces the frequency, rate or extent of sister chromatid segregation during mitosis. + negative regulation of mitotic sister chromatid segregation - + - + + + The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. + thymic T cell differentiation + thymocyte cell differentiation + thymocyte differentiation + T cell development in thymus + T cell differentiation in thymus + + + + + + + - - + + - - + - - + + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving any hormone. - positive regulation of hormone metabolism - up regulation of hormone metabolic process - up-regulation of hormone metabolic process - upregulation of hormone metabolic process - activation of hormone metabolic process - stimulation of hormone metabolic process - positive regulation of hormone metabolic process + Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus. + regulation of thymic T cell differentiation + regulation of thymocyte cell differentiation + regulation of thymocyte differentiation + regulation of T cell development in thymus + regulation of T cell differentiation in thymus - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of hormones. - down regulation of hormone biosynthetic process - down-regulation of hormone biosynthetic process - downregulation of hormone biosynthetic process - inhibition of hormone biosynthetic process - negative regulation of hormone biosynthetic process + Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus. + negative regulation of thymic T cell differentiation + negative regulation of thymocyte cell differentiation + negative regulation of thymocyte differentiation + negative regulation of T cell development in thymus + negative regulation of T cell differentiation in thymus - + - + - - + + - - + + - - + + - Any process that modulates the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of lipid transport + Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus. + positive regulation of thymic T cell differentiation + positive regulation of thymocyte cell differentiation + positive regulation of thymocyte differentiation + positive regulation of T cell development in thymus + positive regulation of T cell differentiation in thymus - + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing. + negative regulation of RNA splicing + + + + + - + - - + + - - - + + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - down regulation of lipid transport - down-regulation of lipid transport - downregulation of lipid transport - inhibition of lipid transport - negative regulation of lipid transport + Any process that activates or increases the frequency, rate or extent of RNA splicing. + positive regulation of RNA splicing - + - + - - + + - - - + - - + + - Any process that activates or increases the frequency, rate or extent of the directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - up regulation of lipid transport - up-regulation of lipid transport - upregulation of lipid transport - activation of lipid transport - stimulation of lipid transport - positive regulation of lipid transport + Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. + regulation of steroid hormone receptor signaling pathway + regulation of steroid hormone receptor signalling pathway + regulation of intracellular steroid hormone receptor signaling pathway - + - + - - + + - - + + - - + + - Any process that modulates the frequency, rate or extent of the directed movement of substances within cells. - regulation of intracellular transport + Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. + negative regulation of steroid hormone receptor signaling pathway + negative regulation of steroid hormone receptor signalling pathway + negative regulation of intracellular steroid hormone receptor signaling pathway - + - + - - + + - - + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of substances within cells. - down regulation of intracellular transport - down-regulation of intracellular transport - downregulation of intracellular transport - inhibition of intracellular transport - negative regulation of intracellular transport + Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. + positive regulation of steroid hormone receptor signaling pathway + positive regulation of steroid hormone receptor signalling pathway + positive regulation of intracellular steroid hormone receptor signaling pathway - + - + + + The process in which immune receptor V, D, and J, or V and J gene segments, depending on the specific receptor, are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). + V(D)J joining + V-D-J joining + V-D-J recombination + V-J joining + V-J recombination + V(D)J recombination + + + + + + + + + + The process in which immunoglobulin gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). For immunoglobulin heavy chains V, D, and J gene segments are joined, and for immunoglobulin light chains V and J gene segments are joined. + immunoglobulin V(D)J joining + immunoglobulin V-D-J joining + immunoglobulin V-D-J recombination + immunoglobulin V-J joining + immunoglobulin V-J recombination + immunoglobulin V(D)J recombination + + + + + + + - - + + - + + - - + + - Any process that activates or increases the frequency, rate or extent of the directed movement of substances within cells. - up regulation of intracellular transport - up-regulation of intracellular transport - upregulation of intracellular transport - activation of intracellular transport - stimulation of intracellular transport - positive regulation of intracellular transport + Any process that modulates the frequency, rate or extent of the directed movement of proteins within cells. + regulation of intracellular protein transport - + - + - + - + + - + - Any process that modulates the activity of a transporter. - regulation of transporter activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. + regulation of amine metabolism + regulation of cellular amine metabolic process - + - + - + - - - + + + - + - Any process that stops or reduces the activity of a transporter. - down regulation of transporter activity - down-regulation of transporter activity - downregulation of transporter activity - inhibition of transporter activity - negative regulation of transporter activity + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. + negative regulation of amine metabolism + negative regulation of cellular amine metabolic process - + - + - + - - - + + + - + - Any process that activates or increases the activity of a transporter. - up regulation of transporter activity - up-regulation of transporter activity - upregulation of transporter activity - activation of transporter activity - stimulation of transporter activity - positive regulation of transporter activity + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. + positive regulation of amine metabolism + positive regulation of cellular amine metabolic process - + - + - + - - + + - - + + - - + + - Any process that modulates the activity of an ion transporter. - regulation of ion transporter activity - regulation of ion transmembrane transporter activity + A part of an axon, a cell projection of a neuron. + axon part - + - + + + 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 vitamin stimulus. + response to vitamin + + + + + + + + + + + + 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 vitamin D stimulus. + response to calciferol + response to cholecalciferol + response to ergocalciferol + response to vitamin D + + + + + + + - - + + - - - + - - + + - Any process that stops or reduces the activity of an ion transporter. - down regulation of ion transporter activity - down-regulation of ion transporter activity - downregulation of ion transporter activity - negative regulation of ion transporter activity - inhibition of ion transporter activity - negative regulation of ion transmembrane transporter activity + Any process that modulates the frequency, rate or extent of collagen binding. + regulation of collagen binding - + - + - - + + - - - + + - - + + - Any process that activates or increases the activity of an ion transporter. - positive regulation of ion transporter activity - up regulation of ion transporter activity - up-regulation of ion transporter activity - upregulation of ion transporter activity - activation of ion transporter activity - stimulation of ion transporter activity - positive regulation of ion transmembrane transporter activity + Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. + down regulation of collagen binding + down-regulation of collagen binding + downregulation of collagen binding + inhibition of collagen binding + negative regulation of collagen binding - + - + - + - - + + - + + - - + + - Any process involved in the maintenance of an internal steady state of calcium ions within the Golgi apparatus of a cell or between the Golgi and its surroundings. - Golgi calcium ion concentration regulation - calcium ion homeostasis in Golgi - regulation of Golgi calcium ion concentration - regulation of calcium ion concentration in Golgi - Golgi calcium ion homeostasis + Any process that activates or increases the frequency, rate or extent of collagen binding. + up regulation of collagen binding + up-regulation of collagen binding + upregulation of collagen binding + activation of collagen binding + stimulation of collagen binding + positive regulation of collagen binding - + - - - Any biological process, occurring at the level of a multicellular organism, pertinent to its function. - organismal physiological process - single-multicellular organism process - multicellular organismal process + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a secretory granule. A secretory granule is a small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. + secretory granule organisation + secretory granule organization and biogenesis + secretory granule organization - + - - - A biological process whose specific outcome is the progression of an integrated living unit: an anatomical structure (which may be a subcellular structure, cell, tissue, or organ), or organism over time from an initial condition to a later condition. - development - single-organism developmental process - developmental process + + + A process in which a protein is transported to, or maintained in, a location within an organelle. + protein localisation to organelle + protein localization in organelle + protein localization to organelle - + - - - - The biological process in which new individuals are produced by one or two multicellular organisms. The new individuals inherit some proportion of their genetic material from the parent or parents. - multicellular organism reproduction + + + + 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 stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). + cellular response to stress - + - + - + - - + + - - - The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. - integral to mitochondrial membrane - integral component of mitochondrial membrane + + + + + + + + The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol. + protein amino acid glycosylation in cytosol + protein glycosylation in cytosol - + - + - + - - + + - + - - + + - Any process that modulates the activity of a monooxygenase. - regulation of monooxygenase activity + The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. + protein amino acid glycosylation in Golgi + terminal glycosylation + protein glycosylation in Golgi - + - + - + - - + + + + - + - Any process that stops or reduces the activity of a monooxygenase. - down regulation of monooxygenase activity - down-regulation of monooxygenase activity - downregulation of monooxygenase activity - inhibition of monooxygenase activity - negative regulation of monooxygenase activity + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of dopamine. + down regulation of dopamine secretion + down-regulation of dopamine secretion + downregulation of dopamine secretion + inhibition of dopamine secretion + negative regulation of dopamine secretion - + - + - + - - + + + + - + - Any process that activates or increases the activity of a monooxygenase. - up regulation of monooxygenase activity - up-regulation of monooxygenase activity - upregulation of monooxygenase activity - activation of monooxygenase activity - stimulation of monooxygenase activity - positive regulation of monooxygenase activity - - - - - - - - - - - The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers. Refers not only to transcription but also to e.g. viral RNA replication. - RNA anabolism - RNA biosynthesis - RNA formation - RNA synthesis - RNA biosynthetic process - - - - - - - - - The chemical reactions and pathways involving monocarboxylic acids, any organic acid containing one carboxyl (COOH) group or anion (COO-). - monocarboxylate metabolic process - monocarboxylic acid metabolism - monocarboxylic acid metabolic process - - - - - - - - - - - - - - - - - - - - - All of the contents of a plasma membrane bounded cell projection, excluding the plasma membrane surrounding the projection. - plasma membrane bounded cell projection cytoplasm + Any process that activates or increases the frequency, rate or extent of the regulated release of dopamine. + up regulation of dopamine secretion + up-regulation of dopamine secretion + upregulation of dopamine secretion + activation of dopamine secretion + stimulation of dopamine secretion + positive regulation of dopamine secretion - - - - - - - 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 hormone stimulus. - cellular response to hormone stimulus - - - - - + - + - - + + - + + + - - + + - - Any process that modulates the frequency, rate or extent of any process in which a cell, a substance, or a cellular entity is transported to, or maintained in, a specific location. - regulation of localisation - regulation of localization + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. + down regulation of catecholamine secretion + down-regulation of catecholamine secretion + downregulation of catecholamine secretion + inhibition of catecholamine secretion + negative regulation of catecholamine secretion - + - + - - + + - - + + + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving polysaccharides. - regulation of polysaccharide metabolic process + Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. + up regulation of catecholamine secretion + up-regulation of catecholamine secretion + upregulation of catecholamine secretion + activation of catecholamine secretion + stimulation of catecholamine secretion + positive regulation of catecholamine secretion - + - + - - + + - + + + - - + + - Any process that modulates the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of organic acid transport + Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. + down regulation of kinase activity + down-regulation of kinase activity + downregulation of kinase activity + inhibition of kinase activity + kinase inhibitor + negative regulation of kinase activity - + - + - - + + - - + + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - down regulation of organic acid transport - down-regulation of organic acid transport - downregulation of organic acid transport - inhibition of organic acid transport - negative regulation of organic acid transport + Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. + up regulation of kinase activity + up-regulation of kinase activity + upregulation of kinase activity + kinase activator + stimulation of kinase activity + positive regulation of kinase activity - + - + - + - - + + - - + - - + + - Any process that activates or increases the frequency, rate or extent of the directed movement of organic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - up regulation of organic acid transport - up-regulation of organic acid transport - upregulation of organic acid transport - activation of organic acid transport - stimulation of organic acid transport - positive regulation of organic acid transport + A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. + DNA incision involved in nucleotide-excision repair + nucleic acid cleavage involved in nucleotide-excision repair + nucleotide-excision repair, DNA incision - + - - - - The controlled release of a substance by a cell. - cellular secretion - secretion by cell + + + Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues. + D-galactose-6-sulfate:alkyltransferase (cyclizing) activity + galactose 6-sulfatase activity + galactose-6-sulfatase activity + porphyran sulfatase activity + galactose-6-sulfurylase activity - + - - - - The controlled release of a substance by a tissue. - tissue secretion - expulsion of gland contents - secretion by tissue + + + 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 lipid stimulus. + response to lipid - + - - - A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. - macromolecular complex - macromolecule complex - protein containing complex - protein complex - protein-protein complex - protein-containing complex + + + 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 cytokine stimulus. + response to cytokine stimulus + response to cytokine - + - + + + Any process of regulating the production and elimination of erythrocytes within an organism. + RBC homeostasis + red blood cell homeostasis + erythrocyte homeostasis + + + + + + + - + - + - + - Any process that modulates the frequency, rate, or extent of mast cell activation. - regulation of mast cell activation + Any process that modulates the frequency, rate, or extent of tissue remodeling. + regulation of tissue remodeling - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation. - negative regulation of mast cell activation + Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. + negative regulation of tissue remodeling - + - + - + - - + + - + - Any process that activates or increases the frequency, rate, or extent of mast cell activation. - positive regulation of mast cell activation + Any process that activates or increases the frequency, rate, or extent of tissue remodeling. + positive regulation of tissue remodeling - + - + + + + The process in which a carbohydrate is transported across a membrane. + carbohydrate membrane transport + transmembrane carbohydrate transport + carbohydrate transmembrane transport + + + + + + + + + + A process in which an ion is transported across a membrane. + ion membrane transport + transmembrane ion transport + ion transmembrane transport + + + + + + + - + - - - + + - + - Any process that modulates the frequency, rate, or extent of mast cell activation as part of an immune response. - regulation of mast cell activation during immune response - regulation of mast cell activation involved in immune response + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. + regulation of amide metabolism + regulation of cellular amide metabolic process - + - + - + - - - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate, or extent of mast cell activation as part of an immune response. - negative regulation of mast cell activation during immune response - negative regulation of mast cell activation involved in immune response + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. + negative regulation of amide metabolism + negative regulation of cellular amide metabolic process - + - + - + - - - + + + - + - Any process that activates or increases the frequency, rate, or extent of mast cell activation as part of an immune response. - positive regulation of mast cell activation during immune response - positive regulation of mast cell activation involved in immune response - - - - - - - - - - - - The chemical reactions and pathways involving tetrapyrroles, natural pigments containing four pyrrole rings joined by one-carbon units linking position 2 of one pyrrole ring to position 5 of the next. - tetrapyrrole metabolism - tetrapyrrole metabolic process - - - - - - - - - Any process in which a macromolecule is transported to, or maintained in, a specific location. - macromolecule localisation - macromolecule localization + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. + positive regulation of amide metabolism + positive regulation of cellular amide metabolic process - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of an organelle. - regulation of organelle organisation - regulation of organelle organization and biogenesis - regulation of organelle organization + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea. + regulation of urea metabolism + regulation of urea metabolic process - + - - - The process in which a precursor cell type acquires the specialized features of a T cell via a differentiation pathway dependent upon transit through the thymus. - thymic T cell differentiation - thymocyte cell differentiation - thymocyte differentiation - T cell development in thymus - T cell differentiation in thymus + + + + + + + + + The portion of the nuclear lumen proximal to the inner nuclear membrane. + nuclear periphery - + - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of T cell differentiation in the thymus. - regulation of thymic T cell differentiation - regulation of thymocyte cell differentiation - regulation of thymocyte differentiation - regulation of T cell development in thymus - regulation of T cell differentiation in thymus + + + + + The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. + nucleobase, nucleoside and nucleotide anabolism + nucleobase, nucleoside and nucleotide biosynthesis + nucleobase, nucleoside and nucleotide formation + nucleobase, nucleoside and nucleotide synthesis + nucleobase-containing small molecule biosynthetic process + + + + + + + + + + The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. + lipid oxidation + + + + + + + + + + Any process in which a protein is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. + cellular protein localisation + channel localizer activity + cellular protein localization + + + + + + + + + + The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. + cellular nitrogen compound metabolism + cellular nitrogen compound metabolic process + + + + + + + + + + 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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. + cellular response to UV light stimulus + cellular response to UV radiation stimulus + cellular response to ultraviolet light stimulus + cellular response to ultraviolet radiation stimulus + cellular response to UV + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. + cellular biopolymer biosynthetic process + cellular macromolecule anabolism + cellular macromolecule biosynthesis + cellular macromolecule formation + cellular macromolecule synthesis + cellular macromolecule biosynthetic process + + + + + + + + + + + + The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. + cortisol metabolism + cortisol metabolic process + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. + cortisol biosynthesis + cortisol formation + cortisol synthesis + cortisol anabolism + cortisol biosynthetic process + + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. + nucleobase, nucleoside, nucleotide and nucleic acid anabolism + nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis + nucleobase, nucleoside, nucleotide and nucleic acid formation + nucleobase, nucleoside, nucleotide and nucleic acid synthesis + nucleobase-containing compound biosynthetic process - + - - - - - - - - - - - - - - - - - - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation in the thymus. - negative regulation of thymic T cell differentiation - negative regulation of thymocyte cell differentiation - negative regulation of thymocyte differentiation - negative regulation of T cell development in thymus - negative regulation of T cell differentiation in thymus + + + + + + + The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids. + nucleobase, nucleoside, nucleotide and nucleic acid breakdown + nucleobase, nucleoside, nucleotide and nucleic acid catabolism + nucleobase, nucleoside, nucleotide and nucleic acid degradation + nucleobase, nucleoside, nucleotide and nucleic acid catabolic process + nucleobase-containing compound catabolic process - + - + + + + A process in which an iron ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. + iron ion membrane transport + transmembrane iron transport + high affinity iron ion transport + high-affinity iron ion transmembrane transport + high-affinity iron ion transport + low affinity iron ion transport + low-affinity iron ion transmembrane transport + low-affinity iron ion transport + iron ion transmembrane transport + + + + + + + - - + + - - + - - + + - Any process that activates or increases the frequency, rate or extent of T cell differentiation in the thymus. - positive regulation of thymic T cell differentiation - positive regulation of thymocyte cell differentiation - positive regulation of thymocyte differentiation - positive regulation of T cell development in thymus - positive regulation of T cell differentiation in thymus + Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of Fe transport + regulation of iron transport + regulation of iron ion transport - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of RNA splicing. - negative regulation of RNA splicing + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + down regulation of iron ion transport + down-regulation of iron ion transport + downregulation of iron ion transport + negative regulation of iron transport + inhibition of iron ion transport + negative regulation of iron ion transport - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate or extent of RNA splicing. - positive regulation of RNA splicing + Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + positive regulation of iron transport + up regulation of iron ion transport + up-regulation of iron ion transport + upregulation of iron ion transport + activation of iron ion transport + stimulation of iron ion transport + positive regulation of iron ion transport - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. - regulation of steroid hormone receptor signaling pathway - regulation of steroid hormone receptor signalling pathway - regulation of intracellular steroid hormone receptor signaling pathway + Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) from one side of a membrane to the other by means of some agent such as a transporter or pore. + regulation of iron ion membrane transport + regulation of transmembrane Fe transport + regulation of transmembrane iron ion transport + regulation of transmembrane iron transport + regulation of iron ion transmembrane transport - + - + - + - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. - negative regulation of steroid hormone receptor signaling pathway - negative regulation of steroid hormone receptor signalling pathway - negative regulation of intracellular steroid hormone receptor signaling pathway + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. + down regulation of transmembrane iron ion transport + down-regulation of transmembrane iron ion transport + downregulation of transmembrane iron ion transport + negative regulation of iron ion membrane transport + negative regulation of transmembrane iron ion transport + negative regulation of transmembrane iron transport + inhibition of transmembrane iron ion transport + negative regulation of iron ion transmembrane transport - + - + - + - - + + + - + - Any process that activates or increases the frequency, rate or extent of the activity of any intracellular steroid hormone receptor signaling pathway. - positive regulation of steroid hormone receptor signaling pathway - positive regulation of steroid hormone receptor signalling pathway - positive regulation of intracellular steroid hormone receptor signaling pathway + Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions from one side of a membrane to the other by means of some agent such as a transporter or pore. + positive regulation of iron ion membrane transport + positive regulation of transmembrane iron ion transport + positive regulation of transmembrane iron transport + up regulation of transmembrane iron ion transport + up-regulation of transmembrane iron ion transport + upregulation of transmembrane iron ion transport + activation of transmembrane iron ion transport + stimulation of transmembrane iron ion transport + positive regulation of iron ion transmembrane transport - + - + - + - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform amines. - regulation of amine metabolism - regulation of cellular amine metabolic process + Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. + regulation of membrane transport + regulation of transmembrane transport - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amines. - negative regulation of amine metabolism - negative regulation of cellular amine metabolic process + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. + down regulation of transmembrane transport + down-regulation of transmembrane transport + downregulation of transmembrane transport + negative regulation of membrane transport + inhibition of transmembrane transport + negative regulation of transmembrane transport - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amines. - positive regulation of amine metabolism - positive regulation of cellular amine metabolic process + Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. + positive regulation of membrane transport + up regulation of transmembrane transport + up-regulation of transmembrane transport + upregulation of transmembrane transport + activation of transmembrane transport + stimulation of transmembrane transport + positive regulation of transmembrane transport - + - + - + - - + + - - + + - - + + - A part of an axon, a cell projection of a neuron. - axon part - - - - - - - - - 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 vitamin stimulus. - response to vitamin - - - - - - - - - - - - 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 vitamin D stimulus. - response to calciferol - response to cholecalciferol - response to ergocalciferol - response to vitamin D + Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. + regulation of ion membrane transport + regulation of transmembrane ion transport + regulation of ion transmembrane transport - + - + - - + + - + + + - - + + - Any process that modulates the frequency, rate or extent of collagen binding. - regulation of collagen binding + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. + down regulation of transmembrane ion transport + down-regulation of transmembrane ion transport + downregulation of transmembrane ion transport + negative regulation of ion membrane transport + negative regulation of transmembrane ion transport + inhibition of transmembrane ion transport + negative regulation of ion transmembrane transport - + - + - - + + - - + + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of collagen binding. - down regulation of collagen binding - down-regulation of collagen binding - downregulation of collagen binding - inhibition of collagen binding - negative regulation of collagen binding + Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. + positive regulation of ion membrane transport + positive regulation of transmembrane ion transport + up regulation of transmembrane ion transport + up-regulation of transmembrane ion transport + upregulation of transmembrane ion transport + activation of transmembrane ion transport + stimulation of transmembrane ion transport + positive regulation of ion transmembrane transport - + - + - + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate or extent of collagen binding. - up regulation of collagen binding - up-regulation of collagen binding - upregulation of collagen binding - activation of collagen binding - stimulation of collagen binding - positive regulation of collagen binding + The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. + mitochondrial protein modification + mitochondrial protein processing - + - - - - 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 stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation). - cellular response to stress + + + + + + + + + The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. + cardiac cell differentiation + heart cell differentiation + cardiocyte differentiation - + - - - - - - - - - - - - - + + + - - + + - The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in the cytosol. - protein amino acid glycosylation in cytosol - protein glycosylation in cytosol + The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. + ciliary axoneme assembly + cilium axoneme assembly + flagellar axoneme assembly + flagellum axoneme assembly + axoneme biogenesis + cilium axoneme biogenesis + axoneme assembly - + - - - - - - - - - - - - - + + - - + + - The addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid in any compartment of the Golgi apparatus. - protein amino acid glycosylation in Golgi - terminal glycosylation - protein glycosylation in Golgi + Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. + tube lumen formation + lumen formation in an anatomical structure + tube formation - + - - - - - - - - - - - - - - - - - - - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a catecholamine. - down regulation of catecholamine secretion - down-regulation of catecholamine secretion - downregulation of catecholamine secretion - inhibition of catecholamine secretion - negative regulation of catecholamine secretion + + + Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes. + regulation of tube size - + - + + + + Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. + social behaviour + cooperative behavior + social behavior + + + + + + + - - + + - - - + - - + + - Any process that activates or increases the frequency, rate or extent of the regulated release of a catecholamine. - up regulation of catecholamine secretion - up-regulation of catecholamine secretion - upregulation of catecholamine secretion - activation of catecholamine secretion - stimulation of catecholamine secretion - positive regulation of catecholamine secretion + Any process that modulates the activity of glutamate-cysteine ligase. + regulation of glutamate-cysteine ligase activity - + - + - + - - - + + - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. - down regulation of kinase activity - down-regulation of kinase activity - downregulation of kinase activity - inhibition of kinase activity - kinase inhibitor - negative regulation of kinase activity + + + + Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase. + down regulation of glutamate-cysteine ligase activity + down-regulation of glutamate-cysteine ligase activity + downregulation of glutamate-cysteine ligase activity + inhibition of glutamate-cysteine ligase activity + negative regulation of glutamate-cysteine ligase activity - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. - up regulation of kinase activity - up-regulation of kinase activity - upregulation of kinase activity - kinase activator - stimulation of kinase activity - positive regulation of kinase activity + Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate. + up regulation of glutamate-cysteine ligase activity + up-regulation of glutamate-cysteine ligase activity + upregulation of glutamate-cysteine ligase activity + activation of glutamate-cysteine ligase activity + stimulation of glutamate-cysteine ligase activity + positive regulation of glutamate-cysteine ligase activity - + - - - - - - - - - - - - - + + - - + + - A process that results in the endonucleolytic cleavage of the damaged strand of DNA. The incision occurs at the junction of single-stranded DNA and double-stranded DNA that is formed when the DNA duplex is unwound. - DNA incision involved in nucleotide-excision repair - nucleic acid cleavage involved in nucleotide-excision repair - nucleotide-excision repair, DNA incision + A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription. + ionotropic glutamate receptor signalling pathway + ionotropic glutamate receptor signaling pathway - + - - - Catalysis of the elimination of sulfate from the D-galactose 6-sulfate residues of porphyran, producing 3,6-anhydrogalactose residues. - D-galactose-6-sulfate:alkyltransferase (cyclizing) activity - galactose 6-sulfatase activity - galactose-6-sulfatase activity - porphyran sulfatase activity - galactose-6-sulfurylase activity + + + + + + + + + The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. + tube morphogenesis - + - - - 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 lipid stimulus. - response to lipid + + + + + + + + + The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. + tube development - + - - - 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 cytokine stimulus. - response to cytokine stimulus - response to cytokine + + + Any process that modulates the diameter of a tube. + regulation of tube diameter - + - - - Any process of regulating the production and elimination of erythrocytes within an organism. - RBC homeostasis - red blood cell homeostasis - erythrocyte homeostasis + + + An immunoglobulin-like complex that is present in at least the plasma membrane of pre-B cells, and that is composed of two identical immunoglobulin heavy chains and two surrogate light chains, each composed of the lambda-5 and VpreB proteins, and a signaling subunit, a heterodimer of the Ig-alpha and Ig-beta proteins. + pre-BCR + pre-B cell receptor complex - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate, or extent of tissue remodeling. - regulation of tissue remodeling + The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. + cell migration involved in vasculogenesis - + - + + + + The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. + vitamin membrane transport + vitamin transmembrane transport + + + + + + + - + - - + + - - + - - + + - Any process that stops, prevents, or reduces the frequency, rate, or extent of tissue remodeling. - negative regulation of tissue remodeling + The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. + intracellular signaling chain + intracellular protein kinase cascade + intracellular signal transduction pathway + protein kinase cascade + signal transmission via intracellular cascade + intracellular signaling cascade + intracellular signaling pathway + signal transduction via intracellular signaling cascade + intracellular signal transduction - + - + + + + The transfer of information occurring at the level of a multicellular organism. + multicellular organismal signalling + multicellular organismal signaling + + + + + + + - + - - + + - - + - - + + - Any process that activates or increases the frequency, rate, or extent of tissue remodeling. - positive regulation of tissue remodeling + The bidirectional movement of large protein complexes along microtubules within a cilium that contributes to cilium assembly. + intraflagellar transport + intraciliary transport involved in cilium morphogenesis + intraflagellar transport involved in cilium morphogenesis + intraciliary transport involved in cilium assembly - + - - - - The process in which a carbohydrate is transported across a membrane. - carbohydrate membrane transport - transmembrane carbohydrate transport - carbohydrate transmembrane transport + + + The regulated release of parathyroid hormone into the circulatory system. + PTH secretion + parathormone secretion + parathyrin secretion + parathyroid hormone secretion - + - - - - A process in which an ion is transported across a membrane. - ion membrane transport - transmembrane ion transport - ion transmembrane transport + + + + The regulated release of any steroid that acts as a hormone into the circulatory system. + steroid hormone secretion - + - - - - - - - - - - - - - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving amides. - regulation of amide metabolism - regulation of cellular amide metabolic process + + + The regulated release of any corticosteroid hormone into the circulatory system. + corticosteroid secretion + corticosteroid hormone secretion - + - + + + The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. + mineralocorticoid secretion + + + + + + + + + + The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. + aldosterone secretion + + + + + + + + + The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. + androgen secretion + + + + + + + - + - - + + - - - - - - - - - - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways involving amides. - negative regulation of amide metabolism - negative regulation of cellular amide metabolic process + + + Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter. + regulation of gluconeogenesis by regulation of transcription from Pol II promoter + regulation of glucose biosynthesis by regulation of transcription from Pol II promoter + regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter + regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter + regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter - + - + - + - + - - - - - - - - - - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways involving amides. - positive regulation of amide metabolism - positive regulation of cellular amide metabolic process + + + + Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. + regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter + regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter + regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter + regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter + regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter + regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter + regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter + regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter + regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter + positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter - + - + - + - - + + - - - - - - - - - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving urea. - regulation of urea metabolism - regulation of urea metabolic process + + + + Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. + positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter + positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter + positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter + positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter + positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter + positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter + positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter + positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter + positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter + positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter + positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter + positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter + positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter + positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter + positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter + positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter - + - - - - - - - - - The portion of the nuclear lumen proximal to the inner nuclear membrane. - nuclear periphery + + + Interacting selectively and non-covalently with a small molecule, any low molecular weight, monomeric, non-encoded molecule. + small molecule binding - + - - - - - The chemical reactions and pathways resulting in the formation of a nucleobase-containing small molecule: a nucleobase, a nucleoside, or a nucleotide. - nucleobase, nucleoside and nucleotide anabolism - nucleobase, nucleoside and nucleotide biosynthesis - nucleobase, nucleoside and nucleotide formation - nucleobase, nucleoside and nucleotide synthesis - nucleobase-containing small molecule biosynthetic process + + + + The regulated release of calcitonin, a peptide hormone that participates in calcium and phosphorus metabolism, from a cell. + calcitonin secretion - + - - - - The removal of one or more electrons from a lipid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydrogen. - lipid oxidation + + + + The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). + protein modification + protein modification process - + - - - - The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells. - cellular nitrogen compound metabolism - cellular nitrogen compound metabolic process + + + Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate. + gamma-glutamyltranspeptidase activity + glutathionase activity + glutathione hydrolase activity - + - - - - 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 ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. - cellular response to UV light stimulus - cellular response to UV radiation stimulus - cellular response to ultraviolet light stimulus - cellular response to ultraviolet radiation stimulus - cellular response to UV + + + + + + + + Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol. + 1alpha,25(OH)2D3 biosynthesis + 1alpha,25-dihydroxycholecalciferol biosynthesis + 1alpha,25-dihydroxyvitamin D3 biosynthesis + calcitriol biosynthesis from calciol + vitamin D3 activation + calcitriol biosynthetic process from calciol - + - - - - - The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells. - cellular biopolymer biosynthetic process - cellular macromolecule anabolism - cellular macromolecule biosynthesis - cellular macromolecule formation - cellular macromolecule synthesis - cellular macromolecule biosynthetic process + + + + + + + + + + + + + + + + + + + + Any process in which DNA and associated proteins are formed into a compact, orderly structure within a nucleoid. + nucleoid DNA packaging - + - - - - - - The chemical reactions and pathways involving cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. - cortisol metabolism - cortisol metabolic process + + + Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. + receptor activity + receptor activity involved in signal transduction + signaling receptor activity - + - - - - - - The chemical reactions and pathways resulting in the formation of cortisol, the steroid hormone 11-beta-17,21-trihydroxypregn-4-ene-3,20-dione. Cortisol is synthesized from cholesterol in the adrenal gland and controls carbohydrate, fat and protein metabolism and has anti-inflammatory properties. - cortisol biosynthesis - cortisol formation - cortisol synthesis - cortisol anabolism - cortisol biosynthetic process + + + + + + + + + + + + + + + Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. + transmembrane collagen receptor activity + collagen receptor activity - + - - - - - - - The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids. - nucleobase, nucleoside, nucleotide and nucleic acid anabolism - nucleobase, nucleoside, nucleotide and nucleic acid biosynthesis - nucleobase, nucleoside, nucleotide and nucleic acid formation - nucleobase, nucleoside, nucleotide and nucleic acid synthesis - nucleobase-containing compound biosynthetic process + + + A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription. + collagen-activated signalling pathway + collagen-activated signaling pathway - + - - - - - - - The chemical reactions and pathways resulting in the breakdown of nucleobases, nucleosides, nucleotides and nucleic acids. - nucleobase, nucleoside, nucleotide and nucleic acid breakdown - nucleobase, nucleoside, nucleotide and nucleic acid catabolism - nucleobase, nucleoside, nucleotide and nucleic acid degradation - nucleobase, nucleoside, nucleotide and nucleic acid catabolic process - nucleobase-containing compound catabolic process + + + Self-propelled movement of a cell or organism from one location to another. + locomotion - + - + - + - + - + - Any process that modulates the frequency, rate or extent of the directed movement of iron ions (Fe) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of Fe transport - regulation of iron transport - regulation of iron ion transport + Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. + regulation of locomotion - + - + - + - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - down regulation of iron ion transport - down-regulation of iron ion transport - downregulation of iron ion transport - negative regulation of iron transport - inhibition of iron ion transport - negative regulation of iron ion transport + Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. + down regulation of locomotion + down-regulation of locomotion + downregulation of locomotion + inhibition of locomotion + negative regulation of locomotion - + - + - + - - + + - + - Any process that activates or increases the frequency, rate or extent of the directed movement of iron ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - positive regulation of iron transport - up regulation of iron ion transport - up-regulation of iron ion transport - upregulation of iron ion transport - activation of iron ion transport - stimulation of iron ion transport - positive regulation of iron ion transport + Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. + up regulation of locomotion + up-regulation of locomotion + upregulation of locomotion + activation of locomotion + stimulation of locomotion + positive regulation of locomotion - + - + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of embryonic development. + up regulation of embryonic development + up-regulation of embryonic development + upregulation of embryonic development + activation of embryonic development + stimulation of embryonic development + positive regulation of embryonic development + + + + + + + - + - + + + - + - Any process that modulates the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. - regulation of membrane transport - regulation of transmembrane transport + Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. + regulation of meiosis + regulation of meiotic nuclear division - + - + + + The series of events that restore integrity to a damaged tissue, following an injury. + wound healing + + + + + + + - - + + - - + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. - down regulation of transmembrane transport - down-regulation of transmembrane transport - downregulation of transmembrane transport - negative regulation of membrane transport - inhibition of transmembrane transport - negative regulation of transmembrane transport + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine. + regulation of pteridine metabolism + regulation of pteridine metabolic process - + - + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate or extent of the directed movement of a solute from one side of a membrane to the other. - positive regulation of membrane transport - up regulation of transmembrane transport - up-regulation of transmembrane transport - upregulation of transmembrane transport - activation of transmembrane transport - stimulation of transmembrane transport - positive regulation of transmembrane transport + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. + regulation of catecholamine metabolism + regulation of catecholamine metabolic process - + - + + + + + + + + + + + + + + + + The bidirectional movement of large protein complexes along microtubules within a cilium, mediated by motor proteins. + intraflagellar transport + intraflagellar transport involved in cilium organization + intraflagellar transport involved in microtubule-based flagellum organisation + IFT + intraciliary transport + + + + + + + + + An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin. + Th1 immune response + T-helper 1 type immune response + + + + + + + + + An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. + T-helper 2 type immune response + Th2 immune response + type 2 immune response + + + + + + + + + A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. + T lymphocyte receptor complex + T-cell receptor complex + T-lymphocyte receptor complex + TCR complex + TCR + T cell receptor complex + + + + + + + + + A T cell receptor complex in which the TCR heterodimer comprises alpha and beta chains, associated with the CD3 complex; recognizes a complex consisting of an antigen-derived peptide bound to a class I or class II MHC protein. + alpha-beta T lymphocyte receptor complex + alpha-beta T-cell receptor complex + alpha-beta T-lymphocyte receptor complex + alpha-beta TCR complex + alpha-beta T cell receptor complex + + + + + + + + + The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. + T lymphocyte activation + T-cell activation + T-lymphocyte activation + T cell activation + + + + + + + + + The change in morphology and behavior of a mature or immature B cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. + B lymphocyte activation + B-cell activation + B-lymphocyte activation + B cell activation + + + + + + + + + A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. + macrophage activation + + + + + + + - + - - + - + - Any process that modulates the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. - regulation of ion membrane transport - regulation of transmembrane ion transport - regulation of ion transmembrane transport + Any process that modulates the frequency, rate or extent of cell proliferation. + regulation of cell proliferation - + - + + + + The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. + neurotransmitter metabolism + neurotransmitter metabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. + neurotransmitter breakdown + neurotransmitter catabolism + neurotransmitter degradation + neurotransmitter catabolic process + + + + + + + + + The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. + lipoprotein metabolism + lipoprotein metabolic process + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. + lipoprotein anabolism + lipoprotein biosynthesis + lipoprotein formation + lipoprotein synthesis + lipoprotein biosynthetic process + + + + + + + + + Interacting selectively and non-covalently with a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. + neurotransmitter binding + + + + + + + + + + + The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. + ketone metabolism + cellular ketone metabolic process + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. + ketone anabolism + ketone biosynthesis + ketone formation + ketone synthesis + ketone biosynthetic process + + + + + + + + + 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 chemical stimulus. + response to chemical stimulus + response to chemical substance + response to chemical + + + + + + + - - + + - - - + + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. - down regulation of transmembrane ion transport - down-regulation of transmembrane ion transport - downregulation of transmembrane ion transport - negative regulation of ion membrane transport - negative regulation of transmembrane ion transport - inhibition of transmembrane ion transport - negative regulation of ion transmembrane transport + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. + regulation of fatty acid anabolism + regulation of fatty acid biosynthesis + regulation of fatty acid formation + regulation of fatty acid synthesis + regulation of fatty acid biosynthetic process + + + + + + + + + A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure. + negative regulation of blood vessel size + vasoconstriction - + - + - - + + - - - + - - + + - Any process that activates or increases the frequency, rate or extent of the directed movement of ions from one side of a membrane to the other. - positive regulation of ion membrane transport - positive regulation of transmembrane ion transport - up regulation of transmembrane ion transport - up-regulation of transmembrane ion transport - upregulation of transmembrane ion transport - activation of transmembrane ion transport - stimulation of transmembrane ion transport - positive regulation of ion transmembrane transport + Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. + regulation of REM sleep + regulation of circadian sleep/wake cycle, REM sleep - + - + - + - - + + - - - - - - - - - The peptide cleavage of mitochondrial proteins, including cleavage contributing to their import. - mitochondrial protein modification - mitochondrial protein processing - - - - - - - - + + + + - - + + - The process in which a relatively unspecialized cell acquires the specialized structural and/or functional features of a cell that will form part of the cardiac organ of an individual. - cardiac cell differentiation - heart cell differentiation - cardiocyte differentiation + Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. + down regulation of circadian sleep/wake cycle, sleep + down-regulation of circadian sleep/wake cycle, sleep + downregulation of circadian sleep/wake cycle, sleep + negative regulation of sleep + inhibition of circadian sleep/wake cycle, sleep + negative regulation of circadian sleep/wake cycle, sleep - + - - + + + + + + + + + + + + + + - - + + - Creation of the central hole of a tube in an anatomical structure through which gases and/or liquids flow. - tube lumen formation - lumen formation in an anatomical structure - tube formation - - - - - - - - - Ensuring that a tube is of the correct length and diameter. Tube size must be maintained not only during tube formation, but also throughout development and in some physiological processes. - regulation of tube size - - - - - - - - - - Behavior directed towards society, or taking place between members of the same species. Occurs predominantly, or only, in individuals that are part of a group. - social behaviour - cooperative behavior - social behavior + Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. + down regulation of circadian sleep/wake cycle, REM sleep + down-regulation of circadian sleep/wake cycle, REM sleep + downregulation of circadian sleep/wake cycle, REM sleep + negative regulation of REM sleep + inhibition of circadian sleep/wake cycle, REM sleep + negative regulation of circadian sleep/wake cycle, REM sleep - + - + - + - + - + - Any process that modulates the activity of glutamate-cysteine ligase. - regulation of glutamate-cysteine ligase activity + Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. + regulation of phosphorylation - + - + - + - - + + - + - Any process that stops or reduces the activity of the enzyme glutamate-cysteine ligase. - down regulation of glutamate-cysteine ligase activity - down-regulation of glutamate-cysteine ligase activity - downregulation of glutamate-cysteine ligase activity - inhibition of glutamate-cysteine ligase activity - negative regulation of glutamate-cysteine ligase activity + Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. + down regulation of phosphorylation + down-regulation of phosphorylation + downregulation of phosphorylation + inhibition of phosphorylation + negative regulation of phosphorylation - + - + - + - - + + - + - Any process that activates or increases the activity of glutamate-cysteine ligase, typically by lowering its sensitivity to inhibition by glutathione and by increasing its affinity for glutamate. - up regulation of glutamate-cysteine ligase activity - up-regulation of glutamate-cysteine ligase activity - upregulation of glutamate-cysteine ligase activity - activation of glutamate-cysteine ligase activity - stimulation of glutamate-cysteine ligase activity - positive regulation of glutamate-cysteine ligase activity + Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. + up regulation of phosphorylation + up-regulation of phosphorylation + upregulation of phosphorylation + activation of phosphorylation + stimulation of phosphorylation + positive regulation of phosphorylation - + - - + + - - + + - A series of molecular signals initiated by glutamate binding to a glutamate receptor on the surface of the target cell, followed by the movement of ions through a channel in the receptor complex. Ends with regulation of a downstream cellular process, e.g. transcription. - ionotropic glutamate receptor signalling pathway - ionotropic glutamate receptor signaling pathway + The directed movement of a motile cell or organism in response to an external stimulus. + directed movement in response to stimulus + taxis - + - - - - - - - - - The process in which the anatomical structures of a tube are generated and organized. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues, with tube shape and organization varying from the single-celled excretory organ in Caenorhabditis elegans to the branching trees of the mammalian kidney and insect tracheal system. - tube morphogenesis + + + + + The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). + vitamin D metabolism + calciferol metabolic process + calciferol metabolism + cholecalciferol metabolic process + cholecalciferol metabolism + ergocalciferol metabolic process + ergocalciferol metabolism + vitamin D metabolic process - + - - - - - - - - - The process whose specific outcome is the progression of a tube over time, from its initial formation to a mature structure. Epithelial and endothelial tubes transport gases, liquids and cells from one site to another and form the basic structure of many organs and tissues including lung and trachea, kidney, the mammary gland, the vascular system and the gastrointestinal and urinary-genital tracts. - tube development + + + + The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. + fat-soluble vitamin anabolism + fat-soluble vitamin biosynthesis + fat-soluble vitamin formation + fat-soluble vitamin synthesis + fat-soluble vitamin biosynthetic process - + - - - Any process that modulates the diameter of a tube. - regulation of tube diameter + + + + + + The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). + vitamin D anabolism + vitamin D biosynthesis + vitamin D formation + vitamin D synthesis + calciferol biosynthesis + calciferol biosynthetic process + cholecalciferol biosynthesis + cholecalciferol biosynthetic process + ergocalciferol biosynthesis + ergocalciferol biosynthetic process + vitamin D biosynthetic process - + - - - - - - - - - - - - - - - - - - - - The orderly movement of a cell from one site to another that will contribute to the differentiation of an endothelial cell that will form de novo blood vessels and tubes. - cell migration involved in vasculogenesis + + + Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. + regulation of membrane potential - + - - - - The process in which a vitamin is transported across a membrane. A vitamin is one of a number of unrelated organic substances that occur in many foods in small amounts and that are necessary in trace amounts for the normal metabolic functioning of the body. - vitamin membrane transport - vitamin transmembrane transport + + + The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents. + amino acid derivative biosynthetic process + cellular amino acid derivative anabolism + cellular amino acid derivative biosynthesis + cellular amino acid derivative biosynthetic process + cellular amino acid derivative formation + cellular amino acid derivative synthesis + cellular modified amino acid anabolism + cellular modified amino acid biosynthesis + cellular modified amino acid formation + cellular modified amino acid synthesis + cellular modified amino acid biosynthetic process - + - - - - - - - - - - - - - - - - - - - - The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. - intracellular signaling chain - intracellular protein kinase cascade - intracellular signal transduction pathway - protein kinase cascade - signal transmission via intracellular cascade - intracellular signaling cascade - intracellular signaling pathway - signal transduction via intracellular signaling cascade - intracellular signal transduction + + + + + The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. + thyroid hormone metabolism + thyroid hormone metabolic process - + - - - - The transfer of information occurring at the level of a multicellular organism. - multicellular organismal signalling - multicellular organismal signaling + + + + + The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. + catecholamine anabolism + catecholamine biosynthesis + catecholamine formation + catecholamine synthesis + catecholamine biosynthetic process - + - - - The regulated release of parathyroid hormone into the circulatory system. - PTH secretion - parathormone secretion - parathyrin secretion - parathyroid hormone secretion + + + + + + + The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. + indole and derivative metabolic process + indole and derivative metabolism + indole-containing compound metabolism + ketole metabolic process + ketole metabolism + indole derivative metabolic process + indole derivative metabolism + indole-containing compound metabolic process - + - - - - The regulated release of any steroid that acts as a hormone into the circulatory system. - steroid hormone secretion + + + + The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. + hormone metabolism + hormone metabolic process - + - - - The regulated release of any corticosteroid hormone into the circulatory system. - corticosteroid secretion - corticosteroid hormone secretion + + + + The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. + hormone anabolism + hormone biosynthesis + hormone formation + hormone synthesis + hormone biosynthetic process - + - - - The regulated release of any mineralocorticoid into the circulatory system. Mineralocorticoids are a class of steroid hormones that regulate water and electrolyte metabolism. - mineralocorticoid secretion + + + A tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. Melanosomes are synthesized in melanocyte cells. + melanosome - + - - - - The regulated release of aldosterone into the circulatory system. Aldosterone is a pregnane-based steroid hormone produced by the outer-section (zona glomerulosa) of the adrenal cortex in the adrenal gland, and acts on the distal tubules and collecting ducts of the kidney to cause the conservation of sodium, secretion of potassium, increased water retention, and increased blood pressure. The overall effect of aldosterone is to increase reabsorption of ions and water in the kidney. - aldosterone secretion + + + The process whose specific outcome is the progression of a dentin-containing tooth over time, from its formation to the mature structure. A dentin-containing tooth is a hard, bony organ borne on the jaw or other bone of a vertebrate, and is composed mainly of dentin, a dense calcified substance, covered by a layer of enamel. + odontogeny + odontosis + tooth development + odontogenesis of dentine-containing teeth + odontogenesis of dentine-containing tooth + odontogenesis of dentin-containing tooth - + - - - The regulated release of an androgen into the circulatory system. Androgens are steroid hormones that stimulate or control the development and maintenance of masculine characteristics in vertebrates. - androgen secretion + + + The process whose specific outcome is the progression of a tooth or teeth over time, from formation to the mature structure(s). A tooth is any hard bony, calcareous, or chitinous organ found in the mouth or pharynx of an animal and used in procuring or masticating food. + odontogeny + odontosis + tooth morphogenesis + odontogenesis of calcareous or chitinous tooth + tooth development + odontogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the formation and development of a tooth or teeth. + regulation of tooth development + regulation of odontogenesis of calcareous or chitinous tooth + regulation of odontogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the formation and development of a tooth or teeth. + positive regulation of tooth development + up regulation of odontogenesis + up-regulation of odontogenesis + upregulation of odontogenesis + activation of odontogenesis + positive regulation of odontogenesis of calcareous or chitinous tooth + stimulation of odontogenesis + positive regulation of odontogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of a tooth or teeth. + down regulation of odontogenesis + down-regulation of odontogenesis + downregulation of odontogenesis + negative regulation of tooth development + inhibition of odontogenesis + negative regulation of odontogenesis of calcareous or chitinous tooth + negative regulation of odontogenesis - + - + - + - + - - - Any process that modulates the frequency, rate or extent of gluconeogenesis, by regulation of transcription from an RNA polymerase II promoter. - regulation of gluconeogenesis by regulation of transcription from Pol II promoter - regulation of glucose biosynthesis by regulation of transcription from Pol II promoter - regulation of glucose biosynthesis by regulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthetic process by regulation of transcription from Pol II promoter - regulation of glucose biosynthetic process by regulation of transcription from RNA polymerase II promoter - regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter + + + + + + + + Any process that modulates the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. + regulation of odontogenesis of dentine-containing teeth + regulation of odontogenesis of dentine-containing tooth + regulation of odontogenesis of dentin-containing tooth - + - + - + - + - - - - Any process that activates or increases the frequency, rate or extent of gluconeogenesis by activating or increasing the frequency, rate or extent of transcription from an RNA polymerase II promoter. - regulation of gluconeogenesis by activation of transcription from RNA polymerase II promoter - regulation of gluconeogenesis by positive regulation of transcription from Pol II promoter - regulation of gluconeogenesis by stimulation of transcription from RNA polymerase II promoter - regulation of gluconeogenesis by up regulation of transcription from RNA polymerase II promoter - regulation of gluconeogenesis by up-regulation of transcription from RNA polymerase II promoter - regulation of gluconeogenesis by upregulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthesis by positive regulation of transcription from Pol II promoter - regulation of glucose biosynthesis by positive regulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthesis by up regulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthesis by up-regulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthesis by upregulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthetic process by positive regulation of transcription from Pol II promoter - regulation of glucose biosynthetic process by up regulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthetic process by up-regulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthetic process by upregulation of transcription from RNA polymerase II promoter - regulation of glucose biosynthetic process by positive regulation of transcription from RNA polymerase II promoter - positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages that are borne on the jaws, or on other bones in the walls of the mouth or pharynx of most vertebrates. + activation of odontogenesis + stimulation of odontogenesis + up regulation of odontogenesis + up-regulation of odontogenesis + upregulation of odontogenesis + positive regulation of odontogenesis of dentine-containing teeth + positive regulation of odontogenesis of dentine-containing tooth + positive regulation of odontogenesis of dentin-containing tooth - + - + - + - + - - - - Any process that activates or increases the frequency, rate or extent of gluconeogenesis by stopping, preventing, or reducing the frequency, rate or extent of transcription from an RNA polymerase II promoter. - positive regulation of gluconeogenesis by down regulation of transcription from RNA polymerase II promoter - positive regulation of gluconeogenesis by down-regulation of transcription from RNA polymerase II promoter - positive regulation of gluconeogenesis by downregulation of transcription from RNA polymerase II promoter - positive regulation of gluconeogenesis by negative regulation of transcription from Pol II promoter - positive regulation of glucose biosynthesis by down regulation of transcription from RNA polymerase II promoter - positive regulation of glucose biosynthesis by down-regulation of transcription from RNA polymerase II promoter - positive regulation of glucose biosynthesis by downregulation of transcription from RNA polymerase II promoter - positive regulation of glucose biosynthesis by negative regulation of transcription from Pol II promoter - positive regulation of glucose biosynthetic process by down regulation of transcription from RNA polymerase II promoter - positive regulation of glucose biosynthetic process by down-regulation of transcription from RNA polymerase II promoter - positive regulation of glucose biosynthetic process by downregulation of transcription from RNA polymerase II promoter - positive regulation of glucose biosynthetic process by negative regulation of transcription from Pol II promoter - positive regulation of glucose biosynthetic process by negative regulation of transcription from RNA polymerase II promoter - positive regulation of gluconeogenesis by inhibition of transcription from RNA polymerase II promoter - positive regulation of glucose biosynthesis by negative regulation of transcription from RNA polymerase II promoter - positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the formation and development of teeth, the hard, bony appendages which are borne on the jaws, or on other bones in the walls of the mouth or pharynx. + down regulation of odontogenesis + down-regulation of odontogenesis + downregulation of odontogenesis + inhibition of odontogenesis + negative regulation of odontogenesis + negative regulation of odontogenesis of dentine-containing teeth + negative regulation of odontogenesis of dentine-containing tooth + negative regulation of odontogenesis of dentin-containing tooth - + - + + + 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 drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. + drug resistance + drug susceptibility/resistance + response to drug + + + + + + + + + The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. + myelinogenesis + myelination + + + + + + + + + + + + The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid. + pteridine and derivative metabolic process + pteridine and derivative metabolism + pteridine-containing compound metabolism + pterin metabolic process + pterin metabolism + pteridine-containing compound metabolic process + + + + + + + - Interacting selectively and non-covalently with a small molecule, any low molecular weight, monomeric, non-encoded molecule. - small molecule binding + Interacting selectively and non-covalently with any hormone, naturally occurring substances secreted by specialized cells that affect the metabolism or behavior of other cells possessing functional receptors for the hormone. + hormone binding - + - - - - The covalent alteration of one or more amino acids occurring in proteins, peptides and nascent polypeptides (co-translational, post-translational modifications). Includes the modification of charged tRNAs that are destined to occur in a protein (pre-translation modification). - protein modification - protein modification process + + + + + + + + + + An immunoglobulin complex that is secreted into extracellular space and found in mucosal areas or other tissues or circulating in the blood or lymph. In its canonical form, a circulating immunoglobulin complex is composed of two identical heavy chains and two identical light chains, held together by disulfide bonds. Some forms of are polymers of the basic structure and contain additional components such as J-chain and the secretory component. + antibody + immunoglobulin complex, circulating - + - - - Catalysis of the reaction: glutathione + H2O = L-cysteinylglycine + L-glutamate. - gamma-glutamyltranspeptidase activity - glutathionase activity - glutathione hydrolase activity + + + + Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). + microbody - + - - - - - - - - Conversion of vitamin D3 from its largely inactive form (calciol, also called cholecalciferol) into a hormonally active form (calcitriol). Conversion requires 25-hydroxylation of calciol in the liver to form calcidiol, and subsequent 1,alpha-hydroxylation of calcidiol in the kidney to form calcitriol. - 1alpha,25(OH)2D3 biosynthesis - 1alpha,25-dihydroxycholecalciferol biosynthesis - 1alpha,25-dihydroxyvitamin D3 biosynthesis - calcitriol biosynthesis from calciol - vitamin D3 activation - calcitriol biosynthetic process from calciol + + + + Primary lysosomal granule found in neutrophil granulocytes. Contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. + primary granule + azurophil granule - + - - - Receiving a signal and transmitting it in the cell to initiate a change in cell activity. A signal is a physical entity or change in state that is used to transfer information in order to trigger a response. - receptor activity - receptor activity involved in signal transduction - signaling receptor activity + + + A membrane-bounded, cytoplasmic secretory granule found in enzyme-secreting cells and visible by light microscopy. Contain zymogen, an inactive enzyme precursor, often of a digestive enzyme. + zymogen granule - + - - + + - - - - - - - + - Combining with a collagen and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. - transmembrane collagen receptor activity - collagen receptor activity + The lipid bilayer surrounding a zymogen granule. + zymogen granule membrane - + - - - A series of molecular signals initiated by collagen binding to a cell surface receptor, and ending with regulation of a downstream cellular process, e.g. transcription. - collagen-activated signalling pathway - collagen-activated signaling pathway + + + Any biological process involved in the maintenance of an internal steady state. + homeostasis + activation of homeostatic process + inhibition of homeostatic process + negative regulation of homeostatic process + positive regulation of homeostatic process + regulation of homeostatic process + homeostatic process - + - - - Self-propelled movement of a cell or organism from one location to another. - locomotion + + + A transmembrane protein complex composed of an MHC alpha chain and, in most cases, either an MHC class II beta chain or an invariant beta2-microglobin chain, and with or without a bound peptide, lipid, or polysaccharide antigen. + MHC protein complex - + - + + + A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen. + MHC class II protein complex + + + + + + + + + Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. + positive regulation of cholesterol homeostasis + regulation of cholesterol homeostasis + cholesterol homeostasis + + + + + + + - + - - + + - + + + - - + + - Any process that modulates the frequency, rate or extent of locomotion of a cell or organism. - regulation of locomotion + The region of a mitochondrion to which the DNA is confined. + mitochondrial nucleoid - + - + + + + + + + + + The process in which a relatively unspecialized cell acquires specialized features of a muscle cell. + myogenesis + muscle cell differentiation + + + + + + + + + + The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease. + drug breakdown + drug catabolism + drug degradation + drug catabolic process + + + + + + + + + + Reactions triggered in response to the presence of a bacterium that act to protect the cell or organism. + defence response to bacteria + defence response to bacterium + defense response to bacteria + antibacterial peptide activity + defense response to bacterium + + + + + + + + + The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. + circadian sleep/wake cycle + + + + + + + + + + + + + + + A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. + circadian sleep/wake cycle, REM sleep + + + + + + + - - + + - - + + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of locomotion of a cell or organism. - down regulation of locomotion - down-regulation of locomotion - downregulation of locomotion - inhibition of locomotion - negative regulation of locomotion + Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. + regulation of circadian sleep/wake cycle - + - + - - + + - - + - - + + - Any process that activates or increases the frequency, rate or extent of locomotion of a cell or organism. - up regulation of locomotion - up-regulation of locomotion - upregulation of locomotion - activation of locomotion - stimulation of locomotion - positive regulation of locomotion + Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. + regulation of circadian rhythm - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate or extent of embryonic development. - up regulation of embryonic development - up-regulation of embryonic development - upregulation of embryonic development - activation of embryonic development - stimulation of embryonic development - positive regulation of embryonic development + Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. + up regulation of circadian rhythm + up-regulation of circadian rhythm + upregulation of circadian rhythm + activation of circadian rhythm + stimulation of circadian rhythm + positive regulation of circadian rhythm - + - + - - + + - - - + + - - + + - Any process that modulates the frequency, rate or extent of meiotic nuclear division, the process in which the nucleus of a diploid cell divides twice forming four haploid cells, one or more of which usually function as gametes. - regulation of meiosis - regulation of meiotic nuclear division + Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. + down regulation of circadian rhythm + down-regulation of circadian rhythm + downregulation of circadian rhythm + inhibition of circadian rhythm + negative regulation of circadian rhythm - + - - - The series of events that restore integrity to a damaged tissue, following an injury. - wound healing + + + The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. + eating behaviour + eating behavior - + - + - + - - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving pteridine. - regulation of pteridine metabolism - regulation of pteridine metabolic process + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. + regulation of sulfur metabolism + regulation of sulphur metabolic process + regulation of sulphur metabolism + regulation of sulfur metabolic process - + - + - + - - + + - - + + + + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving catecholamines. - regulation of catecholamine metabolism - regulation of catecholamine metabolic process + The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. + mitochondrial proton transport + mitochondrial ATP synthesis coupled proton transport - + - - - An immune response which is associated with resistance to intracellular bacteria, fungi, and protozoa, and pathological conditions such as arthritis, and which is typically orchestrated by the production of particular cytokines by T-helper 1 cells, most notably interferon-gamma, IL-2, and lymphotoxin. - Th1 immune response - T-helper 1 type immune response + + + + + The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate. + vitamin B6 metabolism + vitamin B6 metabolic process - + - - - An immune response which is associated with resistance to extracellular organisms such as helminths and pathological conditions such as allergy, which is orchestrated by the production of particular cytokines, most notably IL-4, IL-5, IL-10, and IL-13, by any of a variety of cell types including T-helper 2 cells, eosinophils, basophils, mast cells, and nuocytes, resulting in enhanced production of certain antibody isotypes and other effects. - T-helper 2 type immune response - Th2 immune response - type 2 immune response + + + Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. + bull's eye body + platelet dense body + platelet dense granule - + - - - The change in morphology and behavior of a mature or immature T cell resulting from exposure to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. - T lymphocyte activation - T-cell activation - T-lymphocyte activation - T cell activation + + + + The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate. + pyruvate anabolism + pyruvate biosynthesis + pyruvate formation + pyruvate synthesis + pyruvate biosynthetic process - + - - - A change in morphology and behavior of a macrophage resulting from exposure to a cytokine, chemokine, cellular ligand, or soluble factor. - macrophage activation + + + The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + amide transport - + - + - + - + - + - Any process that modulates the frequency, rate or extent of cell proliferation. - regulation of cell proliferation - - - - - - - - - - The chemical reactions and pathways involving neurotransmitters, any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. - neurotransmitter metabolism - neurotransmitter metabolic process - - - - - - - - - - The chemical reactions and pathways resulting in the breakdown of any of a group of substances that are released on excitation from the axon terminal of a presynaptic neuron of the central or peripheral nervous system and travel across the synaptic cleft to either excite or inhibit the target cell. - neurotransmitter breakdown - neurotransmitter catabolism - neurotransmitter degradation - neurotransmitter catabolic process + Any process that modulates the occurrence or rate of cell death by apoptotic process. + regulation of apoptosis + apoptosis regulator activity + regulation of apoptotic process - + - - - The chemical reactions and pathways involving any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. - lipoprotein metabolism - lipoprotein metabolic process + + + A prolongation or process extending from a cell, e.g. a flagellum or axon. + cell process + cellular process + cellular projection + cell projection - + - - - - - The chemical reactions and pathways resulting in the formation of any conjugated, water-soluble protein in which the covalently attached nonprotein group consists of a lipid or lipids. - lipoprotein anabolism - lipoprotein biosynthesis - lipoprotein formation - lipoprotein synthesis - lipoprotein biosynthetic process + + + + A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. + neuron process + neuron protrusion + neuronal cell projection + neurite + nerve fiber + neuron projection - + - - - Interacting selectively and non-covalently with a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. - neurotransmitter binding + + + The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. + chordate embryonic development - + - - - - - The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. - ketone metabolism - cellular ketone metabolic process + + + The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. + camera-type eye development - + - - - - - - The chemical reactions and pathways resulting in the formation of ketones, a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups. - ketone anabolism - ketone biosynthesis - ketone formation - ketone synthesis - ketone biosynthetic process + + + + + The process in which a monocyte acquires the specialized features of a dendritic cell, an immunocompetent cell of the lymphoid and hemopoietic systems and skin. + myeloid dendritic cell differentiation - + - - - 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 chemical stimulus. - response to chemical stimulus - response to chemical substance - response to chemical + + + + + + + + + + A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. + flavocytochrome b558 + respiratory-burst oxidase + NADPH oxidase complex - + - + - + - - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. - regulation of fatty acid anabolism - regulation of fatty acid biosynthesis - regulation of fatty acid formation - regulation of fatty acid synthesis - regulation of fatty acid biosynthetic process + Any process that modulates the frequency or rate of macrophage activation. + regulation of macrophage activation - + - - - A decrease in the diameter of blood vessels, especially arteries, due to constriction of smooth muscle cells that line the vessels, and usually causing an increase in blood pressure. - negative regulation of blood vessel size - vasoconstriction + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. + down regulation of macrophage activation + down-regulation of macrophage activation + downregulation of macrophage activation + inhibition of macrophage activation + negative regulation of macrophage activation - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of rapid eye movement (REM) sleep. - regulation of REM sleep - regulation of circadian sleep/wake cycle, REM sleep + Any process that stimulates, induces or increases the rate of macrophage activation. + up regulation of macrophage activation + up-regulation of macrophage activation + upregulation of macrophage activation + activation of macrophage activation + stimulation of macrophage activation + positive regulation of macrophage activation - + - + + + + + The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. + peptide anabolism + peptide biosynthesis + peptide formation + peptide synthesis + peptide biosynthetic process + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of structures in the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane, and also covers the host cell environment outside an intracellular parasite. + extracellular structure organisation + extracellular structure organization and biogenesis + extracellular structure organization + + + + + + + - - + + - - - - + + - - + + - Any process that stops, prevents or reduces the duration or quality of sleep, a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. - down regulation of circadian sleep/wake cycle, sleep - down-regulation of circadian sleep/wake cycle, sleep - downregulation of circadian sleep/wake cycle, sleep - negative regulation of sleep - inhibition of circadian sleep/wake cycle, sleep - negative regulation of circadian sleep/wake cycle, sleep + Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. + up regulation of apoptosis + up-regulation of apoptosis + upregulation of apoptosis + activation of apoptosis + positive regulation of apoptosis + stimulation of apoptosis + pro-apoptosis + positive regulation of apoptotic process - + - + - + - - + + - + - Any process that stops, prevents or reduces the duration or quality of rapid eye movement (REM) sleep. - down regulation of circadian sleep/wake cycle, REM sleep - down-regulation of circadian sleep/wake cycle, REM sleep - downregulation of circadian sleep/wake cycle, REM sleep - negative regulation of REM sleep - inhibition of circadian sleep/wake cycle, REM sleep - negative regulation of circadian sleep/wake cycle, REM sleep + Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process. + anti-apoptosis + down regulation of apoptosis + down-regulation of apoptosis + downregulation of apoptosis + inhibition of apoptosis + negative regulation of apoptosis + apoptosis inhibitor activity + pro-survival + negative regulation of apoptotic process - + - + - + - + - + - Any process that modulates the frequency, rate or extent of addition of phosphate groups into a molecule. - regulation of phosphorylation + Any process that modulates the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. + regulation of non-apoptotic programmed cell death + regulation of programmed cell death - + - + - - + + - - + + - - + + - Any process that stops, prevents or decreases the rate of addition of phosphate groups to a molecule. - down regulation of phosphorylation - down-regulation of phosphorylation - downregulation of phosphorylation - inhibition of phosphorylation - negative regulation of phosphorylation + Any process that activates or increases the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. + up regulation of programmed cell death + up-regulation of programmed cell death + upregulation of programmed cell death + activation of programmed cell death + positive regulation of non-apoptotic programmed cell death + stimulation of programmed cell death + positive regulation of programmed cell death - + - + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to a molecule. - up regulation of phosphorylation - up-regulation of phosphorylation - upregulation of phosphorylation - activation of phosphorylation - stimulation of phosphorylation - positive regulation of phosphorylation + Any process that stops, prevents, or reduces the frequency, rate or extent of programmed cell death, cell death resulting from activation of endogenous cellular processes. + down regulation of programmed cell death + down-regulation of programmed cell death + downregulation of programmed cell death + inhibition of programmed cell death + negative regulation of non-apoptotic programmed cell death + negative regulation of programmed cell death - + - - + + - + - The directed movement of a motile cell or organism in response to an external stimulus. - directed movement in response to stimulus - taxis - - - - - - - - - - - The chemical reactions and pathways involving vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). - vitamin D metabolism - calciferol metabolic process - calciferol metabolism - cholecalciferol metabolic process - cholecalciferol metabolism - ergocalciferol metabolic process - ergocalciferol metabolism - vitamin D metabolic process - - - - - - - - - - The chemical reactions and pathways resulting in the formation of any of a diverse group of vitamins that are soluble in organic solvents and relatively insoluble in water. - fat-soluble vitamin anabolism - fat-soluble vitamin biosynthesis - fat-soluble vitamin formation - fat-soluble vitamin synthesis - fat-soluble vitamin biosynthetic process + The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. + penile erection - + - - - - - - The chemical reactions and pathways resulting in the formation of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism. Specific forms of vitamin D include calciferol (ergocalciferol; vitamin D2) and cholecalciferol (calciol; vitamin D3). - vitamin D anabolism - vitamin D biosynthesis - vitamin D formation - vitamin D synthesis - calciferol biosynthesis - calciferol biosynthetic process - cholecalciferol biosynthesis - cholecalciferol biosynthetic process - ergocalciferol biosynthesis - ergocalciferol biosynthetic process - vitamin D biosynthetic process + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the activity of an enzyme. + positive regulation of enzyme activity + up regulation of enzyme activity + up-regulation of enzyme activity + upregulation of enzyme activity + activation of enzyme activity + activation of metalloenzyme activity + positive regulation of metalloenzyme activity + stimulation of enzyme activity + stimulation of metalloenzyme activity + up regulation of metalloenzyme activity + up-regulation of metalloenzyme activity + upregulation of metalloenzyme activity + positive regulation of catalytic activity - + - - - Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. - regulation of membrane potential + + + + + + + + + + + + + + + + + + + + + Any process that stops or reduces the activity of an enzyme. + down regulation of enzyme activity + down-regulation of enzyme activity + down-regulation of metalloenzyme activity + downregulation of enzyme activity + negative regulation of enzyme activity + down regulation of metalloenzyme activity + downregulation of metalloenzyme activity + inhibition of enzyme activity + inhibition of metalloenzyme activity + negative regulation of metalloenzyme activity + negative regulation of catalytic activity - + - - - The chemical reactions and pathways resulting in the formation of compounds derived from amino acids, organic acids containing one or more amino substituents. - amino acid derivative biosynthetic process - cellular amino acid derivative anabolism - cellular amino acid derivative biosynthesis - cellular amino acid derivative biosynthetic process - cellular amino acid derivative formation - cellular amino acid derivative synthesis - cellular modified amino acid anabolism - cellular modified amino acid biosynthesis - cellular modified amino acid formation - cellular modified amino acid synthesis - cellular modified amino acid biosynthetic process + + + + + + + + + + + + + + + + + + + + Any process that modulates I-kappaB kinase/NF-kappaB signaling. + regulation of I-kappaB kinase/NF-kappaB cascade + regulation of I-kappaB kinase/NF-kappaB signaling - + - - - - - The chemical reactions and pathways involving any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. - thyroid hormone metabolism - thyroid hormone metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. + stimulation of I-kappaB kinase/NF-kappaB cascade + activation of I-kappaB kinase/NF-kappaB cascade + positive regulation of I-kappaB kinase/NF-kappaB cascade + up regulation of I-kappaB kinase/NF-kappaB cascade + up-regulation of I-kappaB kinase/NF-kappaB cascade + upregulation of I-kappaB kinase/NF-kappaB cascade + positive regulation of I-kappaB kinase/NF-kappaB signaling - + - - - - - The chemical reactions and pathways resulting in the formation of any of a group of physiologically important biogenic amines that possess a catechol (3,4-dihydroxyphenyl) nucleus and are derivatives of 3,4-dihydroxyphenylethylamine. - catecholamine anabolism - catecholamine biosynthesis - catecholamine formation - catecholamine synthesis - catecholamine biosynthetic process + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. + inhibition of I-kappaB kinase/NF-kappaB cascade + down regulation of I-kappaB kinase/NF-kappaB cascade + down-regulation of I-kappaB kinase/NF-kappaB cascade + downregulation of I-kappaB kinase/NF-kappaB cascade + negative regulation of I-kappaB kinase/NF-kappaB cascade + negative regulation of I-kappaB kinase/NF-kappaB signaling - + - - - - - - - The chemical reactions and pathways involving compounds that contain an indole (2,3-benzopyrrole) skeleton. - indole and derivative metabolic process - indole and derivative metabolism - indole-containing compound metabolism - ketole metabolic process - ketole metabolism - indole derivative metabolic process - indole derivative metabolism - indole-containing compound metabolic process + + + Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli. + surfactant homeostasis - + - - - - The chemical reactions and pathways involving any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. - hormone metabolism - hormone metabolic process + + + Interacting selectively and non-covalently with ions, charged atoms or groups of atoms. + atom binding + ion binding - + - - - - The chemical reactions and pathways resulting in the formation of any hormone, naturally occurring substances secreted by specialized cells that affects the metabolism or behavior of other cells possessing functional receptors for the hormone. - hormone anabolism - hormone biosynthesis - hormone formation - hormone synthesis - hormone biosynthetic process + + + Interacting selectively and non-covalently with anions, charged atoms or groups of atoms with a net negative charge. + anion binding - + - - - 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 drug stimulus. A drug is a substance used in the diagnosis, treatment or prevention of a disease. - drug resistance - drug susceptibility/resistance - response to drug + + + The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. + biopolymer metabolic process + macromolecule metabolism + organismal macromolecule metabolism + multicellular organismal macromolecule metabolic process + macromolecule metabolic process - + - - - The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. - myelinogenesis - myelination + + + Interacting selectively and non-covalently with an organic acid, any acidic compound containing carbon in covalent linkage. + organic acid binding - + - - - - - - The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid. - pteridine and derivative metabolic process - pteridine and derivative metabolism - pteridine-containing compound metabolism - pterin metabolic process - pterin metabolism - pteridine-containing compound metabolic process + + + + 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 external biotic stimulus, an external stimulus caused by, or produced by living things. + response to external biotic stimulus - + - - - Interacting selectively and non-covalently with any hormone, naturally occurring substances secreted by specialized cells that affect the metabolism or behavior of other cells possessing functional receptors for the hormone. - hormone binding + + + + + + + + + The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. + myelin maintenance - + - - - - Cytoplasmic organelles, spherical or oval in shape, that are bounded by a single membrane and contain oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). - microbody + + + Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. + organelle - + - - - Any biological process involved in the maintenance of an internal steady state. - homeostasis - activation of homeostatic process - inhibition of homeostatic process - negative regulation of homeostatic process - positive regulation of homeostatic process - regulation of homeostatic process - homeostatic process + + + Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. + membrane-enclosed organelle + membrane-bounded organelle - + - - - Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell. - positive regulation of cholesterol homeostasis - regulation of cholesterol homeostasis - cholesterol homeostasis + + + Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. + non-membrane-enclosed organelle + non-membrane-bounded organelle - + - + - + - + - - - - - - - - - - The region of a mitochondrion to which the DNA is confined. - mitochondrial nucleoid - - - - - - - - - - The chemical reactions and pathways resulting in the breakdown of a drug, a substance used in the diagnosis, treatment or prevention of a disease. - drug breakdown - drug catabolism - drug degradation - drug catabolic process + + + Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. + intracellular organelle - + - - - The cycle from wakefulness through an orderly succession of sleep states and stages that occurs on an approximately 24 hour rhythm. - circadian sleep/wake cycle + + + + + + + + + + + + + + + Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. + extracellular organelle - + - - - - - - - - - A stage in the circadian sleep cycle during which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity. - circadian sleep/wake cycle, REM sleep + + + + Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. + intracellular membrane-enclosed organelle + intracellular membrane-bounded organelle - + - + - + - - + + - - - - - - - - - - Any process that modulates the frequency, rate or extent of the circadian sleep/wake cycle. - regulation of circadian sleep/wake cycle + + + Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. + intracellular non-membrane-enclosed organelle + intracellular non-membrane-bounded organelle - + - + - + - - + + - - - - - - - - Any process that modulates the frequency, rate or extent of a circadian rhythm. A circadian rhythm is a biological process in an organism that recurs with a regularity of approximately 24 hours. - regulation of circadian rhythm + + + The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. + organelle lumen - + - + + + true + + + + + + + + + Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. + receptor complex + + + + + + + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate or extent of a circadian rhythm behavior. - up regulation of circadian rhythm - up-regulation of circadian rhythm - upregulation of circadian rhythm - activation of circadian rhythm - stimulation of circadian rhythm - positive regulation of circadian rhythm + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. + regulation of carbohydrate anabolism + regulation of carbohydrate biosynthesis + regulation of carbohydrate formation + regulation of carbohydrate synthesis + regulation of carbohydrate biosynthetic process - + - + - - + + - - + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of a circadian rhythm behavior. - down regulation of circadian rhythm - down-regulation of circadian rhythm - downregulation of circadian rhythm - inhibition of circadian rhythm - negative regulation of circadian rhythm - - - - - - - - - The specific behavior of an organism relating to the intake of food, any substance (usually solid) that can be metabolized by an organism to give energy and build tissue. - eating behaviour - eating behavior + Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of ion transport - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving sulfur, the nonmetallic element sulfur or compounds that contain sulfur. - regulation of sulfur metabolism - regulation of sulphur metabolic process - regulation of sulphur metabolism - regulation of sulfur metabolic process + Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + up regulation of ion transport + up-regulation of ion transport + upregulation of ion transport + activation of ion transport + stimulation of ion transport + positive regulation of ion transport - + - + - + - - + + - - - - + + - - + + - - The transport of protons across a mitochondrial membrane to generate an electrochemical gradient (proton-motive force) that powers ATP synthesis. - mitochondrial proton transport - mitochondrial ATP synthesis coupled proton transport - - - - - - - - - - - The chemical reactions and pathways involving any of the vitamin B6 compounds: pyridoxal, pyridoxamine and pyridoxine and the active form, pyridoxal phosphate. - vitamin B6 metabolism - vitamin B6 metabolic process - - - - - - - - - Electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. - bull's eye body - platelet dense body - platelet dense granule - - - - - - - - - - The chemical reactions and pathways resulting in the formation of pyruvate, 2-oxopropanoate. - pyruvate anabolism - pyruvate biosynthesis - pyruvate formation - pyruvate synthesis - pyruvate biosynthetic process - - - - - - - - - The directed movement of an amide, any compound containing one, two, or three acyl groups attached to a nitrogen atom, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - amide transport - - - - - - - - - A prolongation or process extending from a cell, e.g. a flagellum or axon. - cell process - cellular process - cellular projection - cell projection + + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + down regulation of ion transport + down-regulation of ion transport + downregulation of ion transport + inhibition of ion transport + negative regulation of ion transport - + - - - - A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. - neuron process - neuron protrusion - neuronal cell projection - neurite - nerve fiber - neuron projection + + + + + Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. + muscle fiber + muscle fibre + contractile fibre + contractile fiber - + - - - The process whose specific outcome is the progression of the embryo over time, from zygote formation through a stage including a notochord and neural tube until birth or egg hatching. - chordate embryonic development + + + The process of sparing immature T cells which react with self-MHC protein complexes with low affinity levels from apoptotic death. + positive T lymphocyte selection + positive T-cell selection + positive T-lymphocyte selection + positive T cell selection - + - - - The process whose specific outcome is the progression of the camera-type eye over time, from its formation to the mature structure. The camera-type eye is an organ of sight that receives light through an aperture and focuses it through a lens, projecting it on a photoreceptor field. - camera-type eye development + + + + + + + + + A receptor complex found on immature T cells consisting of a T cell receptor beta chain and the pre-TCR-alpha chain, along with additional signaling components including CD3 family members and additional signaling proteins. + pre-T lymphocyte receptor complex + pre-T-cell receptor complex + pre-T-lymphocyte receptor complex + pre-TCR complex + pre-T cell receptor complex - + - - - + + + + + + + + + + + + + + - - + + - A enzyme complex of which the core is a heterodimer composed of a light (alpha) and heavy (beta) chain, and requires several other water-soluble proteins of cytosolic origin for activity. Functions in superoxide generation by the NADPH-dependent reduction of O2. - flavocytochrome b558 - respiratory-burst oxidase - NADPH oxidase complex + Any process that increases the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). + up regulation of DNA binding + up-regulation of DNA binding + upregulation of DNA binding + activation of DNA binding + stimulation of DNA binding + positive regulation of DNA binding - + - + - - + + - + + - - + + - Any process that modulates the frequency or rate of macrophage activation. - regulation of macrophage activation + Any process that stops or reduces the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). + down regulation of DNA binding + down-regulation of DNA binding + downregulation of DNA binding + inhibition of DNA binding + negative regulation of DNA binding - + - + - - + + - - + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage activation. - down regulation of macrophage activation - down-regulation of macrophage activation - downregulation of macrophage activation - inhibition of macrophage activation - negative regulation of macrophage activation + Any process that modulates the frequency, rate or extent of protein binding. + regulation of protein binding - + - + + + + + + + + + A series of molecular signals mediated by a steroid hormone binding to a receptor. + steroid hormone mediated signalling + steroid hormone mediated signaling pathway + + + + + + + + + The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. + macromolecule modification + + + + + + + + + + The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. + macromolecule glycosylation + + + + + + + - - + + - - + + + - - + + - Any process that stimulates, induces or increases the rate of macrophage activation. - up regulation of macrophage activation - up-regulation of macrophage activation - upregulation of macrophage activation - activation of macrophage activation - stimulation of macrophage activation - positive regulation of macrophage activation + Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. + negative regulation of transcription factor activity + down regulation of transcription factor activity + down-regulation of transcription factor activity + downregulation of transcription factor activity + negative regulation of sequence-specific DNA binding transcription factor activity + inhibition of transcription factor activity + negative regulation of DNA binding transcription factor activity - + - - - - - The chemical reactions and pathways resulting in the formation of peptides, compounds of 2 or more (but usually less than 100) amino acids where the alpha carboxyl group of one is bound to the alpha amino group of another. This may include the translation of a precursor protein and its subsequent processing into a functional peptide. - peptide anabolism - peptide biosynthesis - peptide formation - peptide synthesis - peptide biosynthetic process + + + The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). + keto acid metabolic process + keto acid metabolism + ketoacid metabolic process + ketoacid metabolism + oxo acid metabolic process + oxo acid metabolism + oxoacid metabolism + oxoacid metabolic process - + - - + + + + + + + + + + + + + - - + + - The hardening, enlarging and rising of the penis which often occurs in the sexually aroused male and enables sexual intercourse. Achieved by increased inflow of blood into the vessels of erectile tissue, and decreased outflow. - penile erection + Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds. + regulation of cellular respiration - + - + - - + + - - + - - + + - Any process that activates or increases the activity of an enzyme. - positive regulation of enzyme activity - up regulation of enzyme activity - up-regulation of enzyme activity - upregulation of enzyme activity - activation of enzyme activity - activation of metalloenzyme activity - positive regulation of metalloenzyme activity - stimulation of enzyme activity - stimulation of metalloenzyme activity - up regulation of metalloenzyme activity - up-regulation of metalloenzyme activity - upregulation of metalloenzyme activity - positive regulation of catalytic activity + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. + regulation of generation of precursor metabolites and energy - + - + - - + + - - + + - - + + - Any process that stops or reduces the activity of an enzyme. - down regulation of enzyme activity - down-regulation of enzyme activity - down-regulation of metalloenzyme activity - downregulation of enzyme activity - negative regulation of enzyme activity - down regulation of metalloenzyme activity - downregulation of metalloenzyme activity - inhibition of enzyme activity - inhibition of metalloenzyme activity - negative regulation of metalloenzyme activity - negative regulation of catalytic activity + Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. + regulation of carbohydrate catabolic process - + - + + + The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. + pigmentation + + + + + + + - + - + + - + - Any process that modulates I-kappaB kinase/NF-kappaB signaling. - regulation of I-kappaB kinase/NF-kappaB cascade - regulation of I-kappaB kinase/NF-kappaB signaling + Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. + regulation of RNA splicing - + - + + + + + + + + + + + + + + + The process of restoring mitochondrial DNA after damage. + mitochondrial DNA repair + + + + + + + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. - stimulation of I-kappaB kinase/NF-kappaB cascade - activation of I-kappaB kinase/NF-kappaB cascade - positive regulation of I-kappaB kinase/NF-kappaB cascade - up regulation of I-kappaB kinase/NF-kappaB cascade - up-regulation of I-kappaB kinase/NF-kappaB cascade - upregulation of I-kappaB kinase/NF-kappaB cascade - positive regulation of I-kappaB kinase/NF-kappaB signaling + Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. + regulation of kinase activity - + - + - - + + - - + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of -kappaB kinase/NF-kappaB signaling. - inhibition of I-kappaB kinase/NF-kappaB cascade - down regulation of I-kappaB kinase/NF-kappaB cascade - down-regulation of I-kappaB kinase/NF-kappaB cascade - downregulation of I-kappaB kinase/NF-kappaB cascade - negative regulation of I-kappaB kinase/NF-kappaB cascade - negative regulation of I-kappaB kinase/NF-kappaB signaling + Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. + regulation of respiratory gaseous exchange - + - - - Interacting selectively and non-covalently with ions, charged atoms or groups of atoms. - atom binding - ion binding + + + The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. + amide metabolism + cellular amide metabolic process - + - - - Interacting selectively and non-covalently with anions, charged atoms or groups of atoms with a net negative charge. - anion binding + + + + The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. + amide biosynthetic process - + - - - The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass. - biopolymer metabolic process - macromolecule metabolism - organismal macromolecule metabolism - multicellular organismal macromolecule metabolic process - macromolecule metabolic process + + + The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). + dicarboxylate metabolic process + dicarboxylate metabolism + dicarboxylic acid metabolism + dicarboxylic acid metabolic process - + - - - Interacting selectively and non-covalently with an organic acid, any acidic compound containing carbon in covalent linkage. - organic acid binding + + + Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+. + D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating) + NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity + glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating) + triosephosphate dehydrogenase (NAD(P)) + triosephosphate dehydrogenase (NAD(P)+) + glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity - + - - + + + + + + + + + + + + + - - + + - The process of preserving the structure and function of mature myelin. This includes maintaining the compact structure of myelin necessary for its electrical insulating characteristics as well as the structure of non-compact regions such as Schmidt-Lantermann clefts and paranodal loops. This does not include processes responsible for maintaining the nodes of Ranvier, which are not part of the myelin sheath. - myelin maintenance + Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. + regulation of multi-organism process - + - - - Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane. - organelle + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. + negative regulation of multi-organism process + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. + positive regulation of multi-organism process - + - - - Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. - membrane-enclosed organelle - membrane-bounded organelle + + + + + + + + + + + + + + + + + + + + The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. + ossification involved in bone remodelling + ossification involved in bone remodeling - + - - - Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane. Includes ribosomes, the cytoskeleton and chromosomes. - non-membrane-enclosed organelle - non-membrane-bounded organelle + + + The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. + glucan metabolism + glucan metabolic process - + - + - + - - + + - - - Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. - intracellular organelle + + + + + + + + Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. + regulation of system process - + - + - + - - + + - - - Organized structure of distinctive morphology and function, occurring outside the cell. Includes, for example, extracellular membrane vesicles (EMVs) and the cellulosomes of anaerobic bacteria and fungi. - extracellular organelle + + + + + + + + Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. + regulation of digestive system process - + - - - - Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. - intracellular membrane-enclosed organelle - intracellular membrane-bounded organelle + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. + regulation of endocrine system process + regulation of endocrine process - + - + - + - - + + - - - Organized structure of distinctive morphology and function, not bounded by a lipid bilayer membrane and occurring within the cell. Includes ribosomes, the cytoskeleton and chromosomes. - intracellular non-membrane-enclosed organelle - intracellular non-membrane-bounded organelle + + + + + + + + + Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. + regulation of excretion - + - + - + - - + + - - - The internal volume enclosed by the membranes of a particular organelle; includes the volume enclosed by a single organelle membrane, e.g. endoplasmic reticulum lumen, or the volume enclosed by the innermost of the two lipid bilayers of an organelle envelope, e.g. nuclear lumen. - organelle lumen + + + + + + + + + Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. + regulation of respiratory system process - + - + - + - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of carbohydrates. - regulation of carbohydrate anabolism - regulation of carbohydrate biosynthesis - regulation of carbohydrate formation - regulation of carbohydrate synthesis - regulation of carbohydrate biosynthetic process + Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of anion transport - + - + + + A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. + cellular component biogenesis at cellular level + cellular component biogenesis + + + + + + + - + - + - + - Any process that modulates the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of ion transport + Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. + regulation of cellular component biogenesis - + - + - + - - + + - + - Any process that activates or increases the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - up regulation of ion transport - up-regulation of ion transport - upregulation of ion transport - activation of ion transport - stimulation of ion transport - positive regulation of ion transport + Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. + positive regulation of cellular component biogenesis - + - + - + - - + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - down regulation of ion transport - down-regulation of ion transport - downregulation of ion transport - inhibition of ion transport - negative regulation of ion transport - - - - - - - - - - - Fibers, composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. - muscle fiber - muscle fibre - contractile fibre - contractile fiber + Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. + negative regulation of molecular function - + - + - - + + - + - - + + - Any process that modulates the frequency, rate or extent of protein binding. - regulation of protein binding + Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. + positive regulation of molecular function - + - - - - - - - - - A series of molecular signals mediated by a steroid hormone binding to a receptor. - steroid hormone mediated signalling - steroid hormone mediated signaling pathway + + + + The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. + cellular amine metabolic process - + - + + + + The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells. + cellular alcohol metabolic process + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell. + cellular alcohol biosynthetic process + + + + + + + + + + The chemical reactions and pathways by which individual cells transform chemical substances. + cellular metabolism + intermediary metabolism + cellular metabolic process + + + + + + + + + The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. + primary metabolism + primary metabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. + cellular breakdown + cellular catabolism + cellular degradation + cellular catabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. + cellular anabolism + cellular biosynthesis + cellular formation + cellular synthesis + cellular biosynthetic process + + + + + + + + + + The chemical reactions and pathways involving lipids, as carried out by individual cells. + cellular lipid metabolism + cellular lipid metabolic process + + + + + + + - The covalent alteration of one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule, resulting in a change in its properties. - macromolecule modification + + The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. + cellular biopolymer metabolic process + cellular macromolecule metabolism + cellular macromolecule metabolic process + + + + + + + + + + The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. + cellular carbohydrate metabolism + main pathways of carbohydrate metabolic process + main pathways of carbohydrate metabolism + cellular carbohydrate metabolic process + + + + + + + + + + + The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. + cellular glycan metabolic process + cellular glycan metabolism + cellular polysaccharide metabolism + cellular polysaccharide metabolic process + + + + + + + + + + The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. + cellular protein metabolism + cellular protein metabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds. + nitrogen compound breakdown + nitrogen compound catabolism + nitrogen compound degradation + cellular nitrogen compound catabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. + nitrogen compound anabolism + nitrogen compound biosynthesis + nitrogen compound formation + nitrogen compound synthesis + cellular nitrogen compound biosynthetic process + + + + + + + + + + The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. + sulfur compound anabolism + sulfur compound biosynthesis + sulfur compound formation + sulfur compound synthesis + sulfur biosynthesis + sulfur biosynthetic process + sulfur compound biosynthetic process + + + + + + + + + The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. + small molecule metabolism + small molecule metabolic process + + + + + + + + + + The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. + small molecule catabolism + small molecule catabolic process - + - - - - The covalent attachment of a glycosyl residue to one or more monomeric units in a polypeptide, polynucleotide, polysaccharide, or other biological macromolecule. - macromolecule glycosylation + + + + The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. + small molecule biosynthesis + small molecule biosynthetic process - + - + - + - - + + - - - + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of the activity of a transcription factor, any factor involved in the initiation or regulation of transcription. - negative regulation of transcription factor activity - down regulation of transcription factor activity - down-regulation of transcription factor activity - downregulation of transcription factor activity - negative regulation of sequence-specific DNA binding transcription factor activity - inhibition of transcription factor activity - negative regulation of DNA binding transcription factor activity + Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants). + extracellular matrix part + extracellular matrix component - + - - - The chemical reactions and pathways involving any oxoacid; an oxoacid is a compound which contains oxygen, at least one other element, and at least one hydrogen bound to oxygen, and which produces a conjugate base by loss of positive hydrogen ion(s) (hydrons). - keto acid metabolic process - keto acid metabolism - ketoacid metabolic process - ketoacid metabolism - oxo acid metabolic process - oxo acid metabolism - oxoacid metabolism - oxoacid metabolic process + + + + + + + + + + + + + + + + + + + + Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. + extracellular structure + extracellular region part - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate or extent of cellular respiration, the enzymatic release of energy from organic compounds. - regulation of cellular respiration + Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane. + organelle part - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of precursor metabolites, substances from which energy is derived, and the processes involved in the liberation of energy from these substances. - regulation of generation of precursor metabolites and energy + Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. + intracellular part - + - + - + - - + + - - + - - + + - Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of carbohydrates. - regulation of carbohydrate catabolic process + Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. + membrane part - + - - - The accumulation of pigment in an organism, tissue or cell, either by increased deposition or by increased number of cells. - pigmentation + + + + + + + + + + + + + + + + + + + + Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. + chromosomal component + chromosome component + chromosome part + chromosomal part - + - + - + - - + + - - + - - + + - Any process that modulates the frequency, rate or extent of RNA splicing, the process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. - regulation of RNA splicing + Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. + nuclear subcomponent + nucleus component + nuclear part - + - + - + - + - - - The process of restoring mitochondrial DNA after damage. - mitochondrial DNA repair + + + + + + + + + Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. + mitochondrial subcomponent + mitochondrion component + mitochondrial part - + - + - + - - + + - - + + - - + + - Any process that modulates the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. - regulation of kinase activity + Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. + Golgi component + Golgi subcomponent + Golgi apparatus part - + - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment. - regulation of respiratory gaseous exchange - - - - - - - - - The chemical reactions and pathways involving an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group, as carried out by individual cells. - amide metabolism - cellular amide metabolic process - - - - - - - - - - The chemical reactions and pathways resulting in the formation of an amide, any derivative of an oxoacid in which an acidic hydroxy group has been replaced by an amino or substituted amino group. - amide biosynthetic process - - - - - - - - - The chemical reactions and pathways involving dicarboxylic acids, any organic acid containing two carboxyl (COOH) groups or anions (COO-). - dicarboxylate metabolic process - dicarboxylate metabolism - dicarboxylic acid metabolism - dicarboxylic acid metabolic process - - - - - - - - - Catalysis of the reaction: D-glyceraldehyde 3-phosphate + phosphate + NAD(P)+ = 3-phospho-D-glyceroyl phosphate + NAD(P)H + H+. - D-glyceraldehyde 3-phosphate:NAD(P)+ oxidoreductase (phosphorylating) - NAD(P)-dependent glyceraldehyde-3-phosphate dehydrogenase activity - glyceraldehyde-3-phosphate dehydrogenase (NAD(P)) (phosphorylating) - triosephosphate dehydrogenase (NAD(P)) - triosephosphate dehydrogenase (NAD(P)+) - glyceraldehyde-3-phosphate dehydrogenase (NAD(P)+) (phosphorylating) activity + Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. + cytoplasmic vesicle part - + - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. - regulation of multi-organism process + Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. + vacuole component + vacuolar part - + - + - + - - + + - - + + - - + + - Any process that stops, prevents, or reduces the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. - negative regulation of multi-organism process + Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). + microbody part - + - + - + - - + + - - + - - + + - Any process that activates or increases the frequency, rate or extent of a multi-organism process, a process in which an organism has an effect on another organism of the same or different species. - positive regulation of multi-organism process + Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2). + peroxisome component + peroxisomal part - + - + - + - + - + + - + - The formation or growth of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone, involved in response to injury or other physical, physiological or environmental stress stimuli. - ossification involved in bone remodelling - ossification involved in bone remodeling - - - - - - - - - The chemical reactions and pathways involving glucans, polysaccharides consisting only of glucose residues. - glucan metabolism - glucan metabolic process + Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. + cilial part + cilium part + microtubule-based flagellum part + flagellar part + flagellum component + flagellum part + ciliary part - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate or extent of a system process, a multicellular organismal process carried out by any of the organs or tissues in an organ system. - regulation of system process + Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. + cytoplasm component + cytoplasmic part - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate or extent of a digestive system process, a physical, chemical, or biochemical process carried out by living organisms to break down ingested nutrients into components that may be easily absorbed and directed into metabolism. - regulation of digestive system process + Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components. + cytosol component + cytosolic part - + - + + + + + + + + + + A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane. + intracellular organelle part + + + + + + + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of an endocrine process, a process involving the secretion of or response to endocrine hormones. An endocrine hormone is a hormone released into the circulatory system. - regulation of endocrine system process - regulation of endocrine process + Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. + muscle fiber component + muscle fibre component + contractile fibre component + contractile fiber part - + - + - + - - + + - - + - - + + - Any process that modulates the frequency, rate, or extent of excretion, the elimination by an organism of the waste products that arise as a result of metabolic activity. - regulation of excretion + Any constituent part of a nucleolus, a small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. + nucleolus component + nucleolar part - + - + - + - - + + - - + + - - + + - Any process that modulates the frequency, rate or extent of a respiratory system process, an organ system process carried out by any of the organs or tissues of the respiratory system. - regulation of respiratory system process + Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. + nuclear chromosome part - + - + - + - - + + - + + - - + + - Any process that modulates the frequency, rate or extent of the directed movement of anions, atoms or small molecules with a net negative charge into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - regulation of anion transport - - - - - - - - - A process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. Includes biosynthesis of constituent macromolecules, and those macromolecular modifications that are involved in synthesis or assembly of the cellular component. - cellular component biogenesis at cellular level - cellular component biogenesis + Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. + mitochondrial membrane part - + - + - + - - + + - + - - + + - Any process that modulates the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. - regulation of cellular component biogenesis + Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. + synaptic component + synapse part - + - + - + - - + + - - + + - - + + - Any process that activates or increases the frequency, rate or extent of cellular component biogenesis, a process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a cellular component. - positive regulation of cellular component biogenesis + Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. + plasma membrane part - + - + - + - - + + - + - - + + - Any process that stops or reduces the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. - negative regulation of molecular function + Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon. + cell projection part - + - + - + - - + + - + - - + + - Any process that activates or increases the rate or extent of a molecular function, an elemental biological activity occurring at the molecular level, such as catalysis or binding. - positive regulation of molecular function + Any constituent part of a cell, the basic structural and functional unit of all organisms. + cellular subcomponent + protoplast + cell part - + - - - - The chemical reactions and pathways involving any organic compound that is weakly basic in character and contains an amino or a substituted amino group, as carried out by individual cells. Amines are called primary, secondary, or tertiary according to whether one, two, or three carbon atoms are attached to the nitrogen atom. - cellular amine metabolic process + + + + A biological process that directly contributes to the process of producing new individuals, involving another organism. + multi-organism reproductive process - + - - - - The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, as carried out by individual cells. - cellular alcohol metabolic process + + + + A multicellular organism process which involves another multicellular organism of the same or different species. + multi-multicellular organism process - + - - - - - The chemical reactions and pathways resulting in the formation of alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom, carried out at the level of an individual cell. - cellular alcohol biosynthetic process + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. + microtubule-based flagellum organization + cilium organization - + - - - - The chemical reactions and pathways by which individual cells transform chemical substances. - cellular metabolism - intermediary metabolism - cellular metabolic process + + + + + + + + + + + + + + + A membrane raft that is part of the plasma membrane. + plasma membrane raft - + - - - The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism. - primary metabolism - primary metabolic process + + + Interacting selectively and non-covalently with a macromolecular complex. + protein complex binding + macromolecular complex binding + protein-containing complex binding - + - - - - The chemical reactions and pathways resulting in the breakdown of substances, carried out by individual cells. - cellular breakdown - cellular catabolism - cellular degradation - cellular catabolic process + + + + + The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. + glycerolipid anabolism + glycerolipid biosynthesis + glycerolipid formation + glycerolipid synthesis + glycerolipid biosynthetic process - + - - - - The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells. - cellular anabolism - cellular biosynthesis - cellular formation - cellular synthesis - cellular biosynthetic process + + + + + + + + + The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. + T lymphocyte selection + T-cell selection + T-lymphocyte selection + T cell selection - + - - - - The chemical reactions and pathways involving lipids, as carried out by individual cells. - cellular lipid metabolism - cellular lipid metabolic process + + + + + + + + + The process of T cell selection that occurs in the thymus. + thymic T lymphocyte selection + thymic T-cell selection + thymic T-lymphocyte selection + thymic T cell selection - + - - - - The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells. - cellular biopolymer metabolic process - cellular macromolecule metabolism - cellular macromolecule metabolic process + + + + Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. + innate immunity + nonspecific immune response + innate immune response - + - - - - The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y, as carried out by individual cells. - cellular carbohydrate metabolism - main pathways of carbohydrate metabolic process - main pathways of carbohydrate metabolism - cellular carbohydrate metabolic process + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. + regulation of innate immune response - + - - - - - The chemical reactions and pathways involving polysaccharides, polymers of more than 10 monosaccharide residues joined by glycosidic linkages, as carried out by individual cells. - cellular glycan metabolic process - cellular glycan metabolism - cellular polysaccharide metabolism - cellular polysaccharide metabolic process + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. + up regulation of innate immune response + up-regulation of innate immune response + upregulation of innate immune response + stimulation of innate immune response + positive regulation of innate immune response - + - - - - The chemical reactions and pathways involving a specific protein, rather than of proteins in general, occurring at the level of an individual cell. Includes cellular protein modification. - cellular protein metabolism - cellular protein metabolic process + + + + The directed movement of azoles, heterocyclic compounds found in many biologically important substances, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + azole transport - + - - - - The chemical reactions and pathways resulting in the breakdown of organic and inorganic nitrogenous compounds. - nitrogen compound breakdown - nitrogen compound catabolism - nitrogen compound degradation - cellular nitrogen compound catabolic process + + + Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. + lipid raft + GEM domain + glycolipid-enriched membrane domain + membrane raft - + - - - - The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds. - nitrogen compound anabolism - nitrogen compound biosynthesis - nitrogen compound formation - nitrogen compound synthesis - cellular nitrogen compound biosynthetic process + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). + regulation of bone resorption - + - - - - The chemical reactions and pathways resulting in the formation of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. - sulfur compound anabolism - sulfur compound biosynthesis - sulfur compound formation - sulfur compound synthesis - sulfur biosynthesis - sulfur biosynthetic process - sulfur compound biosynthetic process + + + + + + + + + + + + + + + + + + + + + The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle. + meiotic chromosome segregation - + - - - The chemical reactions and pathways involving small molecules, any low molecular weight, monomeric, non-encoded molecule. - small molecule metabolism - small molecule metabolic process + + + + + + + + + + + + + + + + + + + + + + The cell cycle process in which sister chromatids are organized and then physically separated and randomly apportioned to two sets during the second division of the meiotic cell cycle. + meiosis II, chromosome segregation + meiotic sister chromatid segregation - + - - - - The chemical reactions and pathways resulting in the breakdown of small molecules, any low molecular weight, monomeric, non-encoded molecule. - small molecule catabolism - small molecule catabolic process + + + + + + + + + The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. + cell fate commitment + + + + + + + + + + + + + + + + + + + + + + + + + + Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. + cell fate commitment, cell-cell signaling + cell fate commitment, cell-cell signalling + cell-cell signaling during in cell fate commitment + cell-cell signaling resulting in cell fate commitment + cell-cell signalling during cell fate commitment + cell-cell signalling resulting in cell fate commitment + cell-cell signalling involved in cell fate specification + cell-cell signaling involved in cell fate commitment - + - - - - The chemical reactions and pathways resulting in the formation of small molecules, any low molecular weight, monomeric, non-encoded molecule. - small molecule biosynthesis - small molecule biosynthetic process + + + + The directed movement of a protein to a specific location. + establishment of protein localisation + protein positioning + protein recruitment + establishment of protein localization - + - + - + - - + + - + - - + + - Any constituent part of the extracellular matrix, the structure lying external to one or more cells, which provides structural support for cells or tissues; may be completely external to the cell (as in animals) or be part of the cell (as often seen in plants). - extracellular matrix part - extracellular matrix component + Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. + regulation of sleep + regulation of circadian sleep/wake cycle, sleep - + - + + + + The switching of activated B cells from IgM biosynthesis to biosynthesis of other isotypes of immunoglobulin, accomplished through a recombination process involving an intrachromosomal deletion involving switch regions that reside 5' of each constant region gene segment in the immunoglobulin heavy chain locus. + class switch recombination + class switching + isotype switch recombination + isotype switching + + + + + + + - + - - + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of isotype switching. + regulation of class switch recombination + regulation of class switching + regulation of isotype switch recombination + regulation of isotype switching + + + + + + + + The junction between a nerve fiber of one neuron and another neuron, muscle fiber or glial cell. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. + synaptic junction + mixed synapse + electrotonic synapse + synapse + + + + + + + + - + - Any constituent part of the extracellular region, the space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers constituent parts of the host cell environment outside an intracellular parasite. - extracellular structure - extracellular region part + A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. + post-synaptic membrane + postsynaptic membrane - + - + - + - + - - - - - - - - Any constituent part of an organelle, an organized structure of distinctive morphology and function. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, but excludes the plasma membrane. - organelle part + + + Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order. + pyruvate dehydrogenase complex (lipoamide) + cytosolic pyruvate dehydrogenase complex - + - + + + + Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). + dihydrolipoyl dehydrogenase complex + pyruvate dehydrogenase complex (lipoamide) + pyruvate dehydrogenase complex + + + + + + + + + + A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. + hydrogen-translocating F-type ATPase complex + hydrogen-transporting ATP synthase complex + proton-transporting F-type ATPase complex + proton-transporting ATP synthase complex + + + + + + + - + - + - - - - - - - - Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm. - intracellular part + + + A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. + hydrogen-translocating F-type ATPase complex + proton-transporting ATP synthase complex + hydrogen-transporting ATP synthase + plasma membrane hydrogen-translocating F-type ATPase complex + plasma membrane proton-transporting ATP synthase complex - + - + + + + Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex. + NADH dehydrogenase (ubiquinone) complex + NADH dehydrogenase complex (ubiquinone) + NADH-Q oxidoreductase complex + electron transport complex I + respiratory chain complex I + + + + + + + - + - + - + + + - + - Any constituent part of a membrane, a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins. - membrane part + A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species. + NADH dehydrogenase (ubiquinone) complex + respiratory chain complex I + plasma membrane respiratory chain complex I - + - + + + + + + A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species. + complex III + cytochrome bc(1) complex + cytochrome bc1 complex + ubiquinol-cytochrome c oxidoreductase complex + ubiquinol-cytochrome-c reductase complex + CoQH2-cytochrome c reductase complex + coenzyme Q-cytochrome c oxidoreductase complex + coenzyme Q-cytochrome c reductase complex + electron transport complex III + respiratory chain complex III + + + + + + + - + - + - + + - + - Any constituent part of a chromosome, a structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. - chromosomal component - chromosome component - chromosome part - chromosomal part + A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species. + respiratory chain complex III + ubiquinol-cytochrome c oxidoreductase complex + ubiquinol-cytochrome-c reductase complex + plasma membrane coenzyme Q-cytochrome c oxidoreductase complex + plasma membrane coenzyme Q-cytochrome c reductase complex + plasma membrane cytochrome bc1 complex + plasma membrane ubiquinol-cytochrome-c reductase complex + plasma membrane respiratory chain complex III - + - - - - - - - - - - - - - + + + + A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. + immune cell activation + leucocyte activation + leukocyte activation + + + + + + + + + The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). + respiration + oxidative metabolic process + oxidative metabolism + cellular respiration + + + + + + + + + The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. + adipocyte cell differentiation + adipocyte differentiation + adipose cell differentiation + adipogenesis + fat cell differentiation + + + + + + + + - + - Any constituent part of the nucleus, a membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. - nuclear subcomponent - nucleus component - nuclear part + The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. + bone resorption - + - + - + - - + + - - + + + - - + + - Any constituent part of a mitochondrion, a semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. - mitochondrial subcomponent - mitochondrion component - mitochondrial part + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. + regulation of cholesterol anabolism + regulation of cholesterol biosynthesis + regulation of cholesterol formation + regulation of cholesterol synthesis + regulation of cholesterol biosynthetic process - + - + - + - - + + - - + + + + - - + + - Any constituent part of the Golgi apparatus, a compound membranous cytoplasmic organelle of eukaryotic cells, consisting of flattened, ribosome-free vesicles arranged in a more or less regular stack. - Golgi component - Golgi subcomponent - Golgi apparatus part + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. + down regulation of cholesterol biosynthetic process + down-regulation of cholesterol biosynthetic process + downregulation of cholesterol biosynthetic process + negative regulation of cholesterol anabolism + negative regulation of cholesterol biosynthesis + negative regulation of cholesterol formation + negative regulation of cholesterol synthesis + inhibition of cholesterol biosynthetic process + negative regulation of cholesterol biosynthetic process - + - + - + - - + + - - + + + + - - + + - Any constituent part of cytoplasmic vesicle, a vesicle formed of membrane or protein, found in the cytoplasm of a cell. - cytoplasmic vesicle part + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. + positive regulation of cholesterol anabolism + positive regulation of cholesterol biosynthesis + positive regulation of cholesterol formation + positive regulation of cholesterol synthesis + up regulation of cholesterol biosynthetic process + up-regulation of cholesterol biosynthetic process + upregulation of cholesterol biosynthetic process + activation of cholesterol biosynthetic process + stimulation of cholesterol biosynthetic process + positive regulation of cholesterol biosynthetic process - + - + + + The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors. + mast cell activation + + + + + + + - + - - + + - - + + - - + + - Any constituent part of a vacuole, a closed structure, found only in eukaryotic cells, that is completely surrounded by unit membrane and contains liquid material. - vacuole component - vacuolar part + Any process that modulates the frequency, rate or extent of B cell differentiation. + regulation of B lymphocyte differentiation + regulation of B-cell differentiation + regulation of B-lymphocyte differentiation + regulation of B cell development + regulation of B cell differentiation - + - + - + - - + + - - + + + - - + + - Any constituent part of a microbody, a cytoplasmic organelle, spherical or oval in shape, that is bounded by a single membrane and contains oxidative enzymes, especially those utilizing hydrogen peroxide (H2O2). - microbody part + Any process that stops, prevents, or reduces the frequency, rate or extent of B cell differentiation. + down regulation of B cell differentiation + down-regulation of B cell differentiation + downregulation of B cell differentiation + negative regulation of B lymphocyte differentiation + negative regulation of B-cell differentiation + negative regulation of B-lymphocyte differentiation + inhibition of B cell differentiation + negative regulation of B cell development + negative regulation of B cell differentiation - + - + - + - - + + - + + + - - + + - Any constituent part of a peroxisome, a small, membrane-bounded organelle that uses dioxygen (O2) to oxidize organic molecules; contains some enzymes that produce and others that degrade hydrogen peroxide (H2O2). - peroxisome component - peroxisomal part + Any process that activates or increases the frequency, rate or extent of B cell differentiation. + positive regulation of B lymphocyte differentiation + positive regulation of B-cell differentiation + positive regulation of B-lymphocyte differentiation + up regulation of B cell differentiation + up-regulation of B cell differentiation + upregulation of B cell differentiation + activation of B cell differentiation + stimulation of B cell differentiation + positive regulation of B cell development + positive regulation of B cell differentiation - + - + - + - - + + - - + + - - + + - Any constituent part of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. - cilial part - cilium part - microtubule-based flagellum part - flagellar part - flagellum component - flagellum part - ciliary part + Any process that modulates the frequency, rate or extent of T cell differentiation. + regulation of T lymphocyte differentiation + regulation of T-cell differentiation + regulation of T-lymphocyte differentiation + regulation of T cell development + regulation of T cell differentiation - + - + - + - - + + - + + + - - + + - Any constituent part of the cytoplasm, all of the contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. - cytoplasm component - cytoplasmic part + Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. + down regulation of T cell differentiation + down-regulation of T cell differentiation + downregulation of T cell differentiation + negative regulation of T lymphocyte differentiation + negative regulation of T-cell differentiation + negative regulation of T-lymphocyte differentiation + inhibition of T cell differentiation + negative regulation of T cell development + negative regulation of T cell differentiation - + - + - + - - + + - + + + - - + + - Any constituent part of cytosol, that part of the cytoplasm that does not contain membranous or particulate subcellular components. - cytosol component - cytosolic part + Any process that activates or increases the frequency, rate or extent of T cell differentiation. + positive regulation of T lymphocyte differentiation + positive regulation of T-cell differentiation + positive regulation of T-lymphocyte differentiation + up regulation of T cell differentiation + up-regulation of T cell differentiation + upregulation of T cell differentiation + activation of T cell differentiation + stimulation of T cell differentiation + positive regulation of T cell development + positive regulation of T cell differentiation - + - - - + + + + + + + + + + + + + + - - + + - A constituent part of an intracellular organelle, an organized structure of distinctive morphology and function, occurring within the cell. Includes constituent parts of the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton but excludes the plasma membrane. - intracellular organelle part + Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. + regulation of cell differentiation - + - + - + - - + + - - + + + - - + + - Any constituent part of a contractile fiber, a fiber composed of actin, myosin, and associated proteins, found in cells of smooth or striated muscle. - muscle fiber component - muscle fibre component - contractile fibre component - contractile fiber part + Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. + down regulation of cell differentiation + down-regulation of cell differentiation + downregulation of cell differentiation + inhibition of cell differentiation + negative regulation of cell differentiation - + - + - + - - + + - - + + + - - + + - Any constituent part of a nuclear chromosome, a chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. - nuclear chromosome part + Any process that activates or increases the frequency, rate or extent of cell differentiation. + up regulation of cell differentiation + up-regulation of cell differentiation + upregulation of cell differentiation + activation of cell differentiation + stimulation of cell differentiation + positive regulation of cell differentiation - + - + - + - - + + - - + - - + + - Any constituent part of a mitochondrial membrane, either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope. - mitochondrial membrane part + Any process that modulates the frequency, rate or extent of adipocyte differentiation. + regulation of adipocyte cell differentiation + regulation of adipocyte differentiation + regulation of fat cell differentiation - + - + - + - - + + - + + - - + + - Any constituent part of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. - synaptic component - synapse part + Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. + down regulation of fat cell differentiation + down-regulation of fat cell differentiation + downregulation of fat cell differentiation + negative regulation of adipocyte cell differentiation + negative regulation of adipocyte differentiation + inhibition of fat cell differentiation + negative regulation of fat cell differentiation - + - + - + - - + + - - + + - - + + - Any constituent part of the plasma membrane, the membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. - plasma membrane part + Any process that activates or increases the frequency, rate or extent of adipocyte differentiation. + positive regulation of adipocyte cell differentiation + positive regulation of adipocyte differentiation + up regulation of fat cell differentiation + up-regulation of fat cell differentiation + upregulation of fat cell differentiation + activation of fat cell differentiation + stimulation of fat cell differentiation + positive regulation of fat cell differentiation - + - + - + - - + + - + + - - + + - Any constituent part of a cell projection, a prolongation or process extending from a cell, e.g. a flagellum or axon. - cell projection part + Any process that modulates the frequency, rate or extent of lymphocyte differentiation. + regulation of lymphocyte development + regulation of lymphocyte differentiation - + - + - + - - + + - + + + - - + + - Any constituent part of a cell, the basic structural and functional unit of all organisms. - cellular subcomponent - protoplast - cell part - - - - - - - - - - A biological process that directly contributes to the process of producing new individuals, involving another organism. - multi-organism reproductive process - - - - - - - - - - A multicellular organism process which involves another multicellular organism of the same or different species. - multi-multicellular organism process + Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. + down regulation of lymphocyte differentiation + down-regulation of lymphocyte differentiation + downregulation of lymphocyte differentiation + inhibition of lymphocyte differentiation + negative regulation of lymphocyte development + negative regulation of lymphocyte differentiation - + - + - + - - + + - - - A membrane raft that is part of the plasma membrane. - plasma membrane raft - - - - - - - - - Interacting selectively and non-covalently with a macromolecular complex. - protein complex binding - macromolecular complex binding - protein-containing complex binding - - - - - - - - - - - The chemical reactions and pathways resulting in the formation of glycerolipids, any lipid with a glycerol backbone. - glycerolipid anabolism - glycerolipid biosynthesis - glycerolipid formation - glycerolipid synthesis - glycerolipid biosynthetic process - - - - - - - - + + + - - + + - The process in which T cells that express T cell receptors that are restricted by self MHC protein complexes and tolerant to self antigens are selected for further maturation. - T lymphocyte selection - T-cell selection - T-lymphocyte selection - T cell selection + Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. + up regulation of lymphocyte differentiation + up-regulation of lymphocyte differentiation + upregulation of lymphocyte differentiation + activation of lymphocyte differentiation + stimulation of lymphocyte differentiation + positive regulation of lymphocyte development + positive regulation of lymphocyte differentiation - + - - + + + + + + + + + + + + + + - - + + - The process of T cell selection that occurs in the thymus. - thymic T lymphocyte selection - thymic T-cell selection - thymic T-lymphocyte selection - thymic T cell selection - - - - - - - - - - Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. - innate immunity - nonspecific immune response - innate immune response + Any process that modulates the frequency, rate or extent of myeloid cell differentiation. + regulation of myeloid cell differentiation - + - + - - + + - - + + + - - + + - Any process that modulates the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. - regulation of innate immune response + Any process that stops, prevents, or reduces the frequency, rate or extent of myeloid cell differentiation. + down regulation of myeloid cell differentiation + down-regulation of myeloid cell differentiation + downregulation of myeloid cell differentiation + inhibition of myeloid cell differentiation + negative regulation of myeloid cell differentiation - + - + - + - - - + + + - + - Any process that activates or increases the frequency, rate or extent of the innate immune response, the organism's first line of defense against infection. - up regulation of innate immune response - up-regulation of innate immune response - upregulation of innate immune response - stimulation of innate immune response - positive regulation of innate immune response - - - - - - - - - - The directed movement of azoles, heterocyclic compounds found in many biologically important substances, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. - azole transport - - - - - - - - - Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. - lipid raft - GEM domain - glycolipid-enriched membrane domain - membrane raft + Any process that activates or increases the frequency, rate or extent of myeloid cell differentiation. + up regulation of myeloid cell differentiation + up-regulation of myeloid cell differentiation + upregulation of myeloid cell differentiation + activation of myeloid cell differentiation + stimulation of myeloid cell differentiation + positive regulation of myeloid cell differentiation - + - + - + - - + - + - Any process that modulates the frequency, rate or extent of bone tissue loss (resorption). - regulation of bone resorption + Any process that modulates the frequency, rate or extent of basophil differentiation. + regulation of basophil differentiation - + - - + + + + + + + + + + + + + + - - + + - The commitment of cells to specific cell fates and their capacity to differentiate into particular kinds of cells. Positional information is established through protein signals that emanate from a localized source within a cell (the initial one-cell zygote) or within a developmental field. - cell fate commitment + Any process that stops, prevents, or reduces the frequency, rate or extent of basophil differentiation. + down regulation of basophil differentiation + down-regulation of basophil differentiation + downregulation of basophil differentiation + inhibition of basophil differentiation + negative regulation of basophil differentiation - + - + - + - - + + - + + - - + + - Signaling at long or short range between cells that results in the commitment of a cell to a certain fate. - cell fate commitment, cell-cell signaling - cell fate commitment, cell-cell signalling - cell-cell signaling during in cell fate commitment - cell-cell signaling resulting in cell fate commitment - cell-cell signalling during cell fate commitment - cell-cell signalling resulting in cell fate commitment - cell-cell signalling involved in cell fate specification - cell-cell signaling involved in cell fate commitment + Any process that activates or increases the frequency, rate or extent of basophil differentiation. + up regulation of basophil differentiation + up-regulation of basophil differentiation + upregulation of basophil differentiation + activation of basophil differentiation + stimulation of basophil differentiation + positive regulation of basophil differentiation - + - + - + - + + - + - Any process that modulates the frequency, rate or extent of sleep; a readily reversible state of reduced awareness and metabolic activity that occurs periodically in many animals. - regulation of sleep - regulation of circadian sleep/wake cycle, sleep - - - - - - - - - The junction between a nerve fiber of one neuron and another neuron, muscle fiber or glial cell. As the nerve fiber approaches the synapse it enlarges into a specialized structure, the presynaptic nerve ending, which contains mitochondria and synaptic vesicles. At the tip of the nerve ending is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic nerve ending secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane. - synaptic junction - mixed synapse - electrotonic synapse - synapse + Any process that modulates the frequency, rate or extent of erythrocyte differentiation. + regulation of RBC differentiation + regulation of red blood cell differentiation + regulation of erythrocyte differentiation - + - - + + + + + + + + + + + + + + - - + + - A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. - post-synaptic membrane - postsynaptic membrane + Any process that stops, prevents, or reduces the frequency, rate or extent of erythrocyte differentiation. + down regulation of erythrocyte differentiation + down-regulation of erythrocyte differentiation + downregulation of erythrocyte differentiation + negative regulation of RBC differentiation + negative regulation of red blood cell differentiation + inhibition of erythrocyte differentiation + negative regulation of erythrocyte differentiation - + - + - + - - + + - - - Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). Usually contains fewer subunits than its eukaryotic counterpart; for example, the E. coli complex contains 12 E1 dimers, 8 E2 trimers, and 6 E3 dimers arranged in highly symmetric cubic order. - pyruvate dehydrogenase complex (lipoamide) - cytosolic pyruvate dehydrogenase complex - - - - - - - - - - Complex that carries out the oxidative decarboxylation of pyruvate to form acetyl-CoA; comprises subunits possessing three catalytic activities: pyruvate dehydrogenase (E1), dihydrolipoamide S-acetyltransferase (E2), and dihydrolipoamide dehydrogenase (E3). - dihydrolipoyl dehydrogenase complex - pyruvate dehydrogenase complex (lipoamide) - pyruvate dehydrogenase complex + + + + + + + + + Any process that activates or increases the frequency, rate or extent of erythrocyte differentiation. + positive regulation of RBC differentiation + positive regulation of red blood cell differentiation + up regulation of erythrocyte differentiation + up-regulation of erythrocyte differentiation + upregulation of erythrocyte differentiation + activation of erythrocyte differentiation + stimulation of erythrocyte differentiation + positive regulation of erythrocyte differentiation - + - - - - A proton-transporting two-sector ATPase complex that catalyzes the phosphorylation of ADP to ATP during oxidative phosphorylation. The complex comprises a membrane sector (F0) that carries out proton transport and a cytoplasmic compartment sector (F1) that catalyzes ATP synthesis by a rotational mechanism; the extramembrane sector (containing 3 a and 3 b subunits) is connected via the d-subunit to the membrane sector by several smaller subunits. Within this complex, the g and e subunits and the 9-12 c subunits rotate by consecutive 120 degree angles and perform parts of ATP synthesis. This movement is driven by the hydrogen ion electrochemical potential gradient. - hydrogen-translocating F-type ATPase complex - hydrogen-transporting ATP synthase complex - proton-transporting F-type ATPase complex - proton-transporting ATP synthase complex + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of macrophage differentiation. + regulation of macrophage differentiation - + - + - + - - + + - - - A proton-transporting ATP synthase complex found in the plasma membrane. Examples of this component are found in Bacterial species. - hydrogen-translocating F-type ATPase complex - proton-transporting ATP synthase complex - hydrogen-transporting ATP synthase - plasma membrane hydrogen-translocating F-type ATPase complex - plasma membrane proton-transporting ATP synthase complex + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of macrophage differentiation. + down regulation of macrophage differentiation + down-regulation of macrophage differentiation + downregulation of macrophage differentiation + inhibition of macrophage differentiation + negative regulation of macrophage differentiation - + - - - - Respiratory chain complex I is an enzyme of the respiratory chain. It consists of several polypeptide chains and is L-shaped, with a horizontal arm lying in the membrane and a vertical arm that projects into the matrix. The electrons of NADH enter the chain at this complex. - NADH dehydrogenase (ubiquinone) complex - NADH dehydrogenase complex (ubiquinone) - NADH-Q oxidoreductase complex - electron transport complex I - respiratory chain complex I + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of macrophage differentiation. + up regulation of macrophage differentiation + up-regulation of macrophage differentiation + upregulation of macrophage differentiation + activation of macrophage differentiation + stimulation of macrophage differentiation + positive regulation of macrophage differentiation - + - + - + - - + + - - - + - - + + - A subcomplex of the respiratory chain located in the plasma membrane. It contains about 25 different polypeptide subunits, including NADH dehydrogenase (ubiquinone), flavin mononucleotide and several different iron-sulfur clusters containing non-heme iron. The iron undergoes oxidation-reduction between Fe(II) and Fe(III), and catalyzes proton translocation linked to the oxidation of NADH by ubiquinone. Examples of this component are found in bacterial species. - NADH dehydrogenase (ubiquinone) complex - respiratory chain complex I - plasma membrane respiratory chain complex I + Any process that modulates the frequency, rate or extent of megakaryocyte differentiation. + regulation of megakaryocyte differentiation - + - - - - - - A protein complex that transfers electrons from ubiquinol to cytochrome c and translocates two protons across a membrane. The complex contains a core structure of three catalytic subunits: cytochrome b, the Rieske iron sulfur protein (ISP), and cytochrome c1, which are arranged in an integral membrane-bound dimeric complex; additional subunits are present, and vary among different species. - complex III - cytochrome bc(1) complex - cytochrome bc1 complex - ubiquinol-cytochrome c oxidoreductase complex - ubiquinol-cytochrome-c reductase complex - CoQH2-cytochrome c reductase complex - coenzyme Q-cytochrome c oxidoreductase complex - coenzyme Q-cytochrome c reductase complex - electron transport complex III - respiratory chain complex III + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of megakaryocyte differentiation. + down regulation of megakaryocyte differentiation + down-regulation of megakaryocyte differentiation + downregulation of megakaryocyte differentiation + inhibition of megakaryocyte differentiation + negative regulation of megakaryocyte differentiation - + - + - + - - + + - - + + - - + + - A part of the respiratory chain located in the plasma membrane, containing about 10 polypeptide subunits including four redox centers: cytochrome b/b6, cytochrome c1 and an 2Fe-2S cluster. Catalyzes the oxidation of ubiquinol by oxidized cytochrome c1. Examples of this component are found in bacterial species. - respiratory chain complex III - ubiquinol-cytochrome c oxidoreductase complex - ubiquinol-cytochrome-c reductase complex - plasma membrane coenzyme Q-cytochrome c oxidoreductase complex - plasma membrane coenzyme Q-cytochrome c reductase complex - plasma membrane cytochrome bc1 complex - plasma membrane ubiquinol-cytochrome-c reductase complex - plasma membrane respiratory chain complex III + Any process that activates or increases the frequency, rate or extent of megakaryocyte differentiation. + up regulation of megakaryocyte differentiation + up-regulation of megakaryocyte differentiation + upregulation of megakaryocyte differentiation + activation of megakaryocyte differentiation + stimulation of megakaryocyte differentiation + positive regulation of megakaryocyte differentiation - + - - - - A change in morphology and behavior of a leukocyte resulting from exposure to a specific antigen, mitogen, cytokine, cellular ligand, or soluble factor. - immune cell activation - leucocyte activation - leukocyte activation + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of monocyte differentiation. + regulation of monocyte differentiation - + - - - The enzymatic release of energy from inorganic and organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration). - respiration - oxidative metabolic process - oxidative metabolism - cellular respiration + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of monocyte differentiation. + down regulation of monocyte differentiation + down-regulation of monocyte differentiation + downregulation of monocyte differentiation + inhibition of monocyte differentiation + negative regulation of monocyte differentiation - + - - + + + + + + + + + + + + + + - - + + - The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products. - bone resorption + Any process that activates or increases the frequency, rate or extent of monocyte differentiation. + up regulation of monocyte differentiation + up-regulation of monocyte differentiation + upregulation of monocyte differentiation + activation of monocyte differentiation + stimulation of monocyte differentiation + positive regulation of monocyte differentiation - + - + - + - - - + - + - Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. - regulation of cholesterol anabolism - regulation of cholesterol biosynthesis - regulation of cholesterol formation - regulation of cholesterol synthesis - regulation of cholesterol biosynthetic process + Any process that modulates the frequency, rate or extent of neuron differentiation. + regulation of neuron differentiation - + - + - + - - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. - down regulation of cholesterol biosynthetic process - down-regulation of cholesterol biosynthetic process - downregulation of cholesterol biosynthetic process - negative regulation of cholesterol anabolism - negative regulation of cholesterol biosynthesis - negative regulation of cholesterol formation - negative regulation of cholesterol synthesis - inhibition of cholesterol biosynthetic process - negative regulation of cholesterol biosynthetic process + Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. + down regulation of neuron differentiation + down-regulation of neuron differentiation + downregulation of neuron differentiation + inhibition of neuron differentiation + negative regulation of neuron differentiation - + - + - + - - - - + + - + - Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol. - positive regulation of cholesterol anabolism - positive regulation of cholesterol biosynthesis - positive regulation of cholesterol formation - positive regulation of cholesterol synthesis - up regulation of cholesterol biosynthetic process - up-regulation of cholesterol biosynthetic process - upregulation of cholesterol biosynthetic process - activation of cholesterol biosynthetic process - stimulation of cholesterol biosynthetic process - positive regulation of cholesterol biosynthetic process - - - - - - - - - The change in morphology and behavior of a mast cell resulting from exposure to a cytokine, chemokine, soluble factor, or to (at least in mammals) an antigen which the mast cell has specifically bound via IgE bound to Fc-epsilonRI receptors. - mast cell activation + Any process that activates or increases the frequency, rate or extent of neuron differentiation. + up regulation of neuron differentiation + up-regulation of neuron differentiation + upregulation of neuron differentiation + activation of neuron differentiation + stimulation of neuron differentiation + positive regulation of neuron differentiation - + - + - + - - + + - + - Any process that modulates the frequency, rate or extent of T cell differentiation. - regulation of T lymphocyte differentiation - regulation of T-cell differentiation - regulation of T-lymphocyte differentiation - regulation of T cell development - regulation of T cell differentiation + Any process that modulates the frequency, rate or extent of osteoblast differentiation. + regulation of osteoblast differentiation - + - + - + - - - + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of T cell differentiation. - down regulation of T cell differentiation - down-regulation of T cell differentiation - downregulation of T cell differentiation - negative regulation of T lymphocyte differentiation - negative regulation of T-cell differentiation - negative regulation of T-lymphocyte differentiation - inhibition of T cell differentiation - negative regulation of T cell development - negative regulation of T cell differentiation + Any process that stops, prevents, or reduces the frequency, rate or extent of osteoblast differentiation. + down regulation of osteoblast differentiation + down-regulation of osteoblast differentiation + downregulation of osteoblast differentiation + inhibition of osteoblast differentiation + negative regulation of osteoblast differentiation - + - + - + - - - + + + - + - Any process that activates or increases the frequency, rate or extent of T cell differentiation. - positive regulation of T lymphocyte differentiation - positive regulation of T-cell differentiation - positive regulation of T-lymphocyte differentiation - up regulation of T cell differentiation - up-regulation of T cell differentiation - upregulation of T cell differentiation - activation of T cell differentiation - stimulation of T cell differentiation - positive regulation of T cell development - positive regulation of T cell differentiation + Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. + up regulation of osteoblast differentiation + up-regulation of osteoblast differentiation + upregulation of osteoblast differentiation + activation of osteoblast differentiation + stimulation of osteoblast differentiation + positive regulation of osteoblast differentiation - + - + - + - - + - + - Any process that modulates the frequency, rate or extent of cell differentiation, the process in which relatively unspecialized cells acquire specialized structural and functional features. - regulation of cell differentiation + Any process that modulates the frequency, rate or extent of osteoclast differentiation. + regulation of osteoclast differentiation - + - + - + - - - + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of cell differentiation. - down regulation of cell differentiation - down-regulation of cell differentiation - downregulation of cell differentiation - inhibition of cell differentiation - negative regulation of cell differentiation + Any process that stops, prevents, or reduces the frequency, rate or extent of osteoclast differentiation. + down regulation of osteoclast differentiation + down-regulation of osteoclast differentiation + downregulation of osteoclast differentiation + inhibition of osteoclast differentiation + negative regulation of osteoclast differentiation - + - + - + - - - + + - + - Any process that activates or increases the frequency, rate or extent of cell differentiation. - up regulation of cell differentiation - up-regulation of cell differentiation - upregulation of cell differentiation - activation of cell differentiation - stimulation of cell differentiation - positive regulation of cell differentiation + Any process that activates or increases the frequency, rate or extent of osteoclast differentiation. + up regulation of osteoclast differentiation + up-regulation of osteoclast differentiation + upregulation of osteoclast differentiation + activation of osteoclast differentiation + stimulation of osteoclast differentiation + positive regulation of osteoclast differentiation - + - + - + - - + + + + + - + - Any process that modulates the frequency, rate or extent of lymphocyte differentiation. - regulation of lymphocyte development - regulation of lymphocyte differentiation + Any process that modulates the frequency, rate or extent of spermatid nuclear differentiation. + regulation of spermatid nuclear differentiation - + - + - + - - - + + + + + + - + - Any process that stops, prevents, or reduces the frequency, rate or extent of lymphocyte differentiation. - down regulation of lymphocyte differentiation - down-regulation of lymphocyte differentiation - downregulation of lymphocyte differentiation - inhibition of lymphocyte differentiation - negative regulation of lymphocyte development - negative regulation of lymphocyte differentiation + Any process that stops, prevents, or reduces the frequency, rate or extent of spermatid nuclear differentiation. + down regulation of spermatid nuclear differentiation + down-regulation of spermatid nuclear differentiation + downregulation of spermatid nuclear differentiation + inhibition of spermatid nuclear differentiation + negative regulation of spermatid nuclear differentiation - + - + - + - - - + + + + + + - + - Any process that activates or increases the frequency, rate or extent of lymphocyte differentiation. - up regulation of lymphocyte differentiation - up-regulation of lymphocyte differentiation - upregulation of lymphocyte differentiation - activation of lymphocyte differentiation - stimulation of lymphocyte differentiation - positive regulation of lymphocyte development - positive regulation of lymphocyte differentiation + Any process that activates or increases the frequency, rate or extent of spermatid nuclear differentiation. + up regulation of spermatid nuclear differentiation + up-regulation of spermatid nuclear differentiation + upregulation of spermatid nuclear differentiation + activation of spermatid nuclear differentiation + stimulation of spermatid nuclear differentiation + positive regulation of spermatid nuclear differentiation @@ -26885,6 +35141,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the formation of a cilium. + positive regulation of flagellum assembly + up regulation of cilium assembly + up-regulation of cilium assembly + upregulation of cilium assembly + activation of cilium assembly + stimulation of cilium assembly + positive regulation of flagellum biogenesis + positive regulation of cilium assembly + + + + @@ -26952,6 +35244,71 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. + down regulation of action potential + down-regulation of action potential + downregulation of action potential + inhibition of action potential + negative regulation of action potential + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. + up regulation of action potential + up-regulation of action potential + upregulation of action potential + activation of action potential + stimulation of action potential + positive regulation of action potential + + + + @@ -27530,6 +35887,87 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of isotype switching. + down regulation of isotype switching + down-regulation of isotype switching + downregulation of isotype switching + negative regulation of class switch recombination + negative regulation of class switching + negative regulation of isotype switch recombination + inhibition of isotype switching + negative regulation of isotype switching + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of isotype switching. + positive regulation of class switch recombination + positive regulation of class switching + positive regulation of isotype switch recombination + up regulation of isotype switching + up-regulation of isotype switching + upregulation of isotype switching + activation of isotype switching + stimulation of isotype switching + positive regulation of isotype switching + + + + @@ -27668,6 +36106,145 @@ + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the rate or extent of mitosis. Mitosis is the division of the eukaryotic cell nucleus to produce two daughter nuclei that, usually, contain the identical chromosome complement to their mother. + down regulation of mitosis + down-regulation of mitosis + downregulation of mitosis + negative regulation of mitosis + inhibition of mitosis + negative regulation of mitotic nuclear division + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of mitosis. + positive regulation of mitosis + up regulation of mitosis + up-regulation of mitosis + upregulation of mitosis + activation of mitosis + mitogenic activity + stimulation of mitosis + positive regulation of mitotic nuclear division + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle development. + down regulation of striated muscle development + down-regulation of striated muscle development + downregulation of striated muscle development + inhibition of striated muscle development + negative regulation of striated muscle tissue development + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of striated muscle development. + up regulation of striated muscle development + up-regulation of striated muscle development + upregulation of striated muscle development + activation of striated muscle development + stimulation of striated muscle development + positive regulation of striated muscle tissue development + + + + @@ -27955,6 +36532,71 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of DNA recombination. + down regulation of DNA recombination + down-regulation of DNA recombination + downregulation of DNA recombination + inhibition of DNA recombination + negative regulation of DNA recombination + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of DNA recombination. + up regulation of DNA recombination + up-regulation of DNA recombination + upregulation of DNA recombination + activation of DNA recombination + stimulation of DNA recombination + positive regulation of DNA recombination + + + + @@ -28231,6 +36873,75 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the rate or extent of progression through the mitotic cell cycle. + down regulation of progression through mitotic cell cycle + down-regulation of progression through mitotic cell cycle + downregulation of progression through mitotic cell cycle + negative regulation of mitotic cell cycle progression + negative regulation of progression through mitotic cell cycle + inhibition of progression through mitotic cell cycle + negative regulation of mitotic cell cycle + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the rate or extent of progression through the mitotic cell cycle. + positive regulation of mitotic cell cycle progression + positive regulation of progression through mitotic cell cycle + up regulation of progression through mitotic cell cycle + up-regulation of progression through mitotic cell cycle + upregulation of progression through mitotic cell cycle + activation of progression through mitotic cell cycle + stimulation of progression through mitotic cell cycle + positive regulation of mitotic cell cycle + + + + @@ -29370,6 +38081,39 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of insulin. + down regulation of insulin secretion + down-regulation of insulin secretion + downregulation of insulin secretion + inhibition of insulin secretion + negative regulation of insulin secretion + + + + @@ -29813,6 +38557,22 @@ + + + + + + + + + + + Enables the transfer of transition metal ions from one side of a membrane to the other. A transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver. + transition metal ion transmembrane transporter activity + + + + @@ -29865,6 +38625,24 @@ + + + + + + + + + + + + + Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-). + carboxylic acid transmembrane transporter activity + + + + @@ -29896,6 +38674,27 @@ + + + + + Catalysis of the reaction: cytolipin-H + CMP-N-acetylneuraminate = alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide + CMP. Alpha-N-acetylneuraminyl-2,3-beta-D-galactosyl-1,4-beta-D-glucosylceramide is also known as GM3. + CMP-acetylneuraminate-lactosylceramide-sialyltransferase + cytidine monophosphoacetylneuraminate-lactosylceramide sialyltransferase + CMP-N-acetylneuraminate:lactosylceramide alpha-2,3-N-acetylneuraminyltransferase activity + CMP-acetylneuraminic acid:lactosylceramide sialyltransferase activity + CMP-sialic acid:lactosylceramide-sialyltransferase activity + GM3 synthase activity + GM3 synthetase activity + cytidine monophosphoacetylneuraminate-lactosylceramide alpha2,3- sialyltransferase activity + ganglioside GM3 synthase activity + ganglioside GM3 synthetase activity + SAT 1 + lactosylceramide alpha-2,3-sialyltransferase activity + + + + @@ -29924,6 +38723,94 @@ + + + + + The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line. + somatic stem cell renewal + somatic stem cell division + + + + + + + + + + + + + + + + The meiotic divisions undergone by the primary and secondary spermatocytes to produce haploid spermatids. + spermatocyte cell division + spermatocyte division + + + + + + + + + The directed movement of substances into, out of or within the Golgi apparatus, mediated by vesicles. + Golgi-derived vesicle transport + Golgi vesicle transport + + + + + + + + + + + + + + + The process in which vesicles are directed to specific destination membranes during transport to, from or within the Golgi apparatus; mediated by the addition of specific coat proteins, including COPI and COPII proteins and clathrin, to the membrane during vesicle formation. + Golgi vesicle targeting + dictyosome vesicle targeting + vesicle targeting, to, from or within dictyosome + vesicle targeting, to, from or within Golgi + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or destination of vesicle-mediated transport to, from or within the Golgi apparatus. + regulation of Golgi vesicle targeting + regulation of vesicle targeting, to, from or within Golgi + + + + @@ -29934,6 +38821,25 @@ + + + + + + + + + + + + + A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. + sperm activation + sperm capacitation + + + + @@ -29962,6 +38868,24 @@ + + + + + + + + + + + + A developmental process, independent of morphogenetic (shape) change, that is required for a cell to attain its fully functional state. + functional differentiation + cell maturation + + + + @@ -30019,6 +38943,25 @@ + + + + + + + + + + + + + The process whose specific outcome is the progression of a spermatid over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. + spermatid cell differentiation + spermatid differentiation + + + + @@ -30427,6 +39370,100 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of muscle development. + regulation of muscle organ development + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of muscle development. + down regulation of muscle development + down-regulation of muscle development + downregulation of muscle development + inhibition of muscle development + negative regulation of muscle organ development + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates, maintains or increases the rate of muscle development. + up regulation of muscle development + up-regulation of muscle development + upregulation of muscle development + activation of muscle development + stimulation of muscle development + positive regulation of muscle organ development + + + + @@ -30444,6 +39481,17 @@ + + + + + The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. + neuron generation + generation of neurons + + + + @@ -30486,6 +39534,23 @@ + + + + + + + + + + + The process whose specific outcome is the progression of cardiac muscle over time, from its formation to the mature structure. + heart muscle development + cardiac muscle tissue development + + + + @@ -30502,6 +39567,16 @@ + + + + + A small, subcellular membrane-bounded vesicle containing pigment and/or pigment precursor molecules. Pigment granule biogenesis is poorly understood, as pigment granules are derived from multiple sources including the endoplasmic reticulum, coated vesicles, lysosomes, and endosomes. + pigment granule + + + + @@ -30650,6 +39725,17 @@ + + + + + + Any process involved in the maintenance of the internal steady state of the amount of a chemical at the level of the tissue. + chemical homeostasis within a tissue + + + + @@ -30927,6 +40013,104 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the controlled release of a protein from a cell. + regulation of protein secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the controlled release of a protein from a cell. + down regulation of protein secretion + down-regulation of protein secretion + downregulation of protein secretion + inhibition of protein secretion + negative regulation of protein secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the controlled release of a protein from a cell. + up regulation of protein secretion + up-regulation of protein secretion + upregulation of protein secretion + activation of protein secretion + stimulation of protein secretion + positive regulation of protein secretion + + + + @@ -31213,6 +40397,107 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of neurogenesis, the generation of cells in the nervous system. + regulation of neurogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. + down regulation of neurogenesis + down-regulation of neurogenesis + downregulation of neurogenesis + inhibition of neurogenesis + negative regulation of neurogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of neurogenesis, the generation of cells within the nervous system. + up regulation of neurogenesis + up-regulation of neurogenesis + upregulation of neurogenesis + activation of neurogenesis + stimulation of neurogenesis + positive regulation of neurogenesis + + + + @@ -31447,6 +40732,34 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of insulin. + regulation of insulin secretion + + + + @@ -31749,6 +41062,36 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of B cell activation. + regulation of B lymphocyte activation + regulation of B-cell activation + regulation of B-lymphocyte activation + regulation of B cell activation + + + + @@ -31877,6 +41220,41 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of B cell activation. + down regulation of B cell activation + down-regulation of B cell activation + downregulation of B cell activation + negative regulation of B lymphocyte activation + negative regulation of B-cell activation + negative regulation of B-lymphocyte activation + inhibition of B cell activation + negative regulation of B cell activation + + + + @@ -31914,6 +41292,42 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of B cell activation. + positive regulation of B lymphocyte activation + positive regulation of B-cell activation + positive regulation of B-lymphocyte activation + up regulation of B cell activation + up-regulation of B cell activation + upregulation of B cell activation + activation of B cell activation + stimulation of B cell activation + positive regulation of B cell activation + + + + @@ -32020,6 +41434,22 @@ + + + + + + The movement of a leukocyte within or between different tissues and organs of the body. + immune cell migration + immune cell trafficking + leucocyte migration + leucocyte trafficking + leukocyte trafficking + leukocyte migration + + + + @@ -32032,6 +41462,72 @@ + + + + + + + + + + + + + + + + + + + + + + The series of events involved in sensory perception in which a sensory stimulus is received and converted into a molecular signal. + sensory detection of stimulus + sensory perception, sensory transduction of stimulus + sensory perception, stimulus detection + sensory transduction + detection of stimulus involved in sensory perception + + + + + + + + + + + + + + + + + + + + + + + + + + + The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. + sensory detection of light during visual perception + sensory detection of light stimulus during visual perception + sensory transduction of light during visual perception + sensory transduction of light stimulus during visual perception + visual perception, detection of light stimulus + visual perception, sensory transduction during perception of light + visual perception, sensory transduction of light stimulus + detection of light stimulus involved in visual perception + + + + @@ -32167,6 +41663,40 @@ + + + + + + + + + + + + + + + + + + + + + + + The series of events in which a light stimulus is received by a cell and converted into a molecular signal as part of the sensory perception of light. + sensory detection of light stimulus + sensory detection of light stimulus during sensory perception + sensory perception, sensory detection of light stimulus + sensory perception, sensory transduction of light stimulus + sensory transduction of light stimulus + sensory transduction of light stimulus during sensory perception + detection of light stimulus involved in sensory perception + + + + @@ -32181,6 +41711,110 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of the chemical reactions and pathways resulting in the breakdown of lipids. + regulation of lipid breakdown + regulation of lipid catabolism + regulation of lipid degradation + regulation of lipid catabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. + down regulation of lipid catabolic process + down-regulation of lipid catabolic process + downregulation of lipid catabolic process + negative regulation of lipid breakdown + negative regulation of lipid catabolism + negative regulation of lipid degradation + inhibition of lipid catabolic process + negative regulation of lipid catabolic process + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of lipids. + positive regulation of lipid breakdown + positive regulation of lipid catabolism + positive regulation of lipid degradation + up regulation of lipid catabolic process + up-regulation of lipid catabolic process + upregulation of lipid catabolic process + activation of lipid catabolic process + stimulation of lipid catabolic process + positive regulation of lipid catabolic process + + + + @@ -32920,6 +42554,33 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of DNA binding. DNA binding is any process in which a gene product interacts selectively with DNA (deoxyribonucleic acid). + regulation of DNA binding + + + + @@ -33020,6 +42681,201 @@ + + + + + The process in which a relatively unspecialized cell acquires specialized features of a striated muscle cell; striated muscle fibers are divided by transverse bands into striations, and cardiac and voluntary muscle are types of striated muscle. + voluntary muscle cell differentiation + striated muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of muscle cell differentiation. + regulation of muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of muscle cell differentiation. + down regulation of muscle cell differentiation + down-regulation of muscle cell differentiation + downregulation of muscle cell differentiation + inhibition of muscle cell differentiation + negative regulation of muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of muscle cell differentiation. + up regulation of muscle cell differentiation + up-regulation of muscle cell differentiation + upregulation of muscle cell differentiation + activation of muscle cell differentiation + stimulation of muscle cell differentiation + positive regulation of muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of striated muscle cell differentiation. + regulation of striated muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of striated muscle cell differentiation. + down regulation of striated muscle cell differentiation + down-regulation of striated muscle cell differentiation + downregulation of striated muscle cell differentiation + inhibition of striated muscle cell differentiation + negative regulation of striated muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of striated muscle cell differentiation. + up regulation of striated muscle cell differentiation + up-regulation of striated muscle cell differentiation + upregulation of striated muscle cell differentiation + activation of striated muscle cell differentiation + stimulation of striated muscle cell differentiation + positive regulation of striated muscle cell differentiation + + + + @@ -33246,6 +43102,17 @@ + + + + + The directed movement of a cofactor into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. A cofactor is a substance that is required for the activity of an enzyme or other protein. + vitamin or cofactor transport + cofactor transport + + + + @@ -33468,6 +43335,129 @@ + + + + + + + + + + + + + + + + + The process whose specific outcome is the progression of a cartilage element over time, from its formation to the mature structure. Cartilage elements are skeletal elements that consist of connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. + cartilage biogenesis + cartilage biosynthesis + cartilage element development + cartilage formation + cartilage organ development + chondrogenesis + cartilage development + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + up regulation of protein transport + up-regulation of protein transport + upregulation of protein transport + activation of protein transport + stimulation of protein transport + positive regulation of protein transport + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of protein transport + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a protein into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + down regulation of protein transport + down-regulation of protein transport + downregulation of protein transport + inhibition of protein transport + negative regulation of protein transport + + + + @@ -34007,6 +43997,57 @@ + + + + + A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of chromosomes, structures composed of a very long molecule of DNA and associated proteins that carries hereditary information. This term covers covalent modifications at the molecular level as well as spatial relationships among the major components of a chromosome. + chromosome organisation + chromosome organization and biogenesis + maintenance of genome integrity + nuclear genome maintenance + chromosome organization + + + + + + + + + The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. + cell division + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the physical partitioning and separation of a cell into daughter cells. + regulation of cell division + + + + @@ -34810,6 +44851,104 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. + regulation of cytoskeleton organisation + regulation of cytoskeleton organization and biogenesis + regulation of cytoskeleton organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. + down regulation of cytoskeleton organization + down-regulation of cytoskeleton organization + downregulation of cytoskeleton organization + negative regulation of cytoskeleton organisation + inhibition of cytoskeleton organization + negative regulation of cytoskeleton organization and biogenesis + negative regulation of cytoskeleton organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. + positive regulation of cytoskeleton organisation + up regulation of cytoskeleton organization + up-regulation of cytoskeleton organization + upregulation of cytoskeleton organization + activation of cytoskeleton organization + stimulation of cytoskeleton organization + positive regulation of cytoskeleton organization and biogenesis + positive regulation of cytoskeleton organization + + + + @@ -34843,6 +44982,98 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + regulation of neurotransmitter transport + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + down regulation of neurotransmitter transport + down-regulation of neurotransmitter transport + downregulation of neurotransmitter transport + inhibition of neurotransmitter transport + negative regulation of neurotransmitter transport + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + up regulation of neurotransmitter transport + up-regulation of neurotransmitter transport + upregulation of neurotransmitter transport + activation of neurotransmitter transport + stimulation of neurotransmitter transport + positive regulation of neurotransmitter transport + + + + @@ -34859,6 +45090,43 @@ + + + + + The series of events in which a stimulus is received by a cell or organism and converted into a molecular signal. + stimulus detection + perception of stimulus + stimulus sensing + detection of stimulus + + + + + + + + + + + The directed movement of histamine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Histamine is a physiologically active amine, found in plant and animal tissue and released from mast cells as part of an allergic reaction in humans. + histamine transport + + + + + + + + + Any process in which an organelle is transported to, and/or maintained in, a specific location. + establishment and maintenance of organelle localization + organelle localisation + organelle localization + + + + @@ -34876,6 +45144,19 @@ + + + + + Any process in which a vesicle or vesicles are transported to, and/or maintained in, a specific location. + cytoplasmic vesicle localization + establishment and maintenance of vesicle localization + vesicle localisation + vesicle localization + + + + @@ -34914,6 +45195,31 @@ + + + + + + + The directed movement of a vesicle to a specific location. + establishment of vesicle localisation + establishment of vesicle localization + + + + + + + + + + The directed movement of an organelle to a specific location. + establishment of organelle localisation + establishment of organelle localization + + + + @@ -35001,6 +45307,17 @@ + + + + + + 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 stimulus from another living organism. + response to other organism + + + + @@ -35047,6 +45364,71 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cell division. + up regulation of cell division + up-regulation of cell division + upregulation of cell division + activation of cell division + stimulation of cell division + positive regulation of cell division + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of cell division. + down regulation of cell division + down-regulation of cell division + downregulation of cell division + inhibition of cell division + negative regulation of cell division + + + + @@ -35585,6 +45967,199 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. + regulation of conduction of nerve impulse + regulation of transmission of nerve impulse + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. + down regulation of transmission of nerve impulse + down-regulation of transmission of nerve impulse + downregulation of transmission of nerve impulse + negative regulation of conduction of nerve impulse + inhibition of transmission of nerve impulse + negative regulation of transmission of nerve impulse + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates, maintains or increases the frequency, rate or extent of transmission of a nerve impulse, the sequential electrochemical polarization and depolarization that travels across the membrane of a neuron in response to stimulation. + positive regulation of conduction of nerve impulse + up regulation of transmission of nerve impulse + up-regulation of transmission of nerve impulse + upregulation of transmission of nerve impulse + activation of transmission of nerve impulse + stimulation of transmission of nerve impulse + positive regulation of transmission of nerve impulse + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. + regulation of chromosome segregation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. + up regulation of chromosome segregation + up-regulation of chromosome segregation + upregulation of chromosome segregation + activation of chromosome segregation + stimulation of chromosome segregation + positive regulation of chromosome segregation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets. + down regulation of chromosome segregation + down-regulation of chromosome segregation + downregulation of chromosome segregation + inhibition of chromosome segregation + negative regulation of chromosome segregation + + + + @@ -35657,6 +46232,120 @@ + + + + + + + + + + + + The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. + cardiomyocyte differentiation + heart muscle cell differentiation + cardiac muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cardiac muscle tissue development. + regulation of heart muscle development + regulation of cardiac muscle tissue development + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates, maintains or increases the frequency, rate or extent of cardiac muscle tissue development. + positive regulation of heart muscle development + up regulation of cardiac muscle development + up-regulation of cardiac muscle development + upregulation of cardiac muscle development + activation of cardiac muscle development + stimulation of cardiac muscle development + positive regulation of cardiac muscle tissue development + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of cardiac muscle tissue development. + down regulation of cardiac muscle development + down-regulation of cardiac muscle development + downregulation of cardiac muscle development + negative regulation of heart muscle development + inhibition of cardiac muscle development + negative regulation of cardiac muscle tissue development + + + + @@ -36072,6 +46761,33 @@ + + + + + + + + + + + + + + + + + + + + + + The assembly, arrangement, or disassembly of cytoskeletal structures that is involved in the internalization of bacteria, immune complexes and other particulate matter or of an apoptotic cell by phagocytosis. + cytoskeletal rearrangement involved in phagocytosis, engulfment + + + + @@ -36158,6 +46874,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of growth hormone from a cell. + regulation of growth hormone secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the frequency, rate or extent of the regulated release of growth hormone from a cell. + positive regulation of growth hormone secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases or stops the frequency, rate or extent of the regulated release of growth hormone from a cell. + negative regulation of growth hormone secretion + + + + @@ -36296,6 +47095,61 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole. + ciliogenesis + cilium assembly + cilium formation + microtubule-based flagellum assembly + cilium biogenesis + cilium morphogenesis + cilium organization + cilium assembly + + + + @@ -36419,6 +47273,23 @@ + + + + + + + + + + + + The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis). + cell chemotaxis + + + + @@ -36463,6 +47334,99 @@ + + + + + The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. + mast cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. + regulation of mast cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. + positive regulation of mast cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency or extent of mast cell differentiation, the process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a mast cell. A mast cell is a cell that is found in almost all tissues containing numerous basophilic granules and capable of releasing large amounts of histamine and heparin upon activation. + negative regulation of mast cell differentiation + + + + @@ -36647,6 +47611,35 @@ + + + + + + + + + + + + + + + + + + + + + + + The process in which the controlled movement of a flagellated sperm cell is initiated as part of the process required for flagellated sperm to reach fertilization competence. + positive regulation of sperm motility involved in capacitation + positive regulation of flagellated sperm motility involved in capacitation + + + + @@ -36664,6 +47657,73 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of cell projection assembly. + regulation of cell projection formation + regulation of cell projection assembly + + + + + + + + + The progression of muscle tissue over time, from its initial formation to its mature state. Muscle tissue is a contractile tissue made up of actin and myosin fibers. + muscle tissue development + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate or frequency of cell death. Cell death is the specific activation or halting of processes within a cell so that its vital functions markedly cease, rather than simply deteriorating gradually over time, which culminates in cell death. + negative regulation of cell death + + + + @@ -36723,6 +47783,36 @@ + + + + + + + + + + + + + + + + + + + + + + Any apoptotic process that contributes to the shaping of an anatomical structure. + apoptosis involved in morphogenesis + apoptosis involved in development + morphogenetic apoptosis + apoptotic process involved in morphogenesis + + + + @@ -36734,6 +47824,23 @@ + + + + + + + + + + + The process in which a mesenchymal cell, acquires specialized structural and/or functional features of a chondroblast. Differentiation includes the processes involved in commitment of a cell to a chondroblast fate. A chondroblast is a precursor cell to chondrocytes. + chondrocyte progenitor cell differentiation + chondroblast differentiation + + + + @@ -36772,6 +47879,33 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of chromosome condensation, the progressive compaction of dispersed interphase chromatin into threadlike chromosomes prior to mitotic or meiotic nuclear division, or during apoptosis, in eukaryotic cells. + regulation of chromosome condensation + + + + @@ -36800,6 +47934,34 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of microtubule-based movement, the movement of organelles, other microtubules and other particles along microtubules, mediated by motor proteins. + regulation of microtubule-based movement + + + + @@ -36995,6 +48157,33 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the occurrence or rate of cell death by apoptosis that results in the maintenance of the steady-state number of cells within a tissue. + regulation of apoptosis involved in tissue homeostasis + + + + @@ -37127,6 +48316,91 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. + regulation of cartilage development + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. + positive regulation of cartilage development + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency, or extent of cartilage development, the process whose specific outcome is the progression of the cartilage over time, from its formation to the mature structure. Cartilage is a connective tissue dominated by extracellular matrix containing collagen type II and large amounts of proteoglycan, particularly chondroitin sulfate. + negative regulation of cartilage development + + + + @@ -37183,6 +48457,16 @@ + + + + + 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. + muscle structure development + + + + @@ -37285,6 +48569,26 @@ + + + + + The progression of a connective tissue over time, from its formation to the mature structure. + connective tissue development + + + + + + + + + A process in which a protein is transported to, or maintained in, a location within a cilium. + protein localization to cilium + + + + @@ -37415,6 +48719,29 @@ + + + + + An immune response against microbes mediated by anti-microbial peptides in body fluid. + peptide-mediated antimicrobial humoral response + antimicrobial peptide-mediated antimicrobial humoral response + antimicrobial humoral immune response mediated by antimicrobial peptide + + + + + + + + + A process that coontributes to the second meiotic division. The second meiotic division separates chromatids resulting in a haploid number of chromosomes. + second meiotic division + meiosis II cell cycle process + + + + @@ -37648,6 +48975,190 @@ + + + + + + + + + + + + + + + + + A process of chromosome organization that is involved in a meiotic cell cycle. + chromosome organisation involved in meiosis + meiotic chromosome organization + chromosome organization involved in meiotic cell cycle + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the directed movement of a protein to a specific location. + regulation of establishment of protein localisation + regulation of establishment of protein localization + + + + + + + + + The regulated release of somatostatin from secretory granules in the D cells of the pancreas. + somatostatin secretion + + + + + + + + + + + + The regulated release of mucus by the mucosa. Mucus is a viscous slimy secretion consisting of mucins and various inorganic salts dissolved in water, with suspended epithelial cells and leukocytes. The mucosa, or mucous membrane, is the membrane covered with epithelium that lines the tubular organs of the body. Mucins are carbohydrate-rich glycoproteins that have a lubricating and protective function. + mucus production + mucus secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. + regulation of mucus production + regulation of mucus secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. + negative regulation of mucus production + negative regulation of mucus secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the regulated release of mucus from a cell or a tissue. + positive regulation of mucus production + positive regulation of mucus secretion + + + + + + + + + + + + + + + The controlled release of molecules that form the extracellular matrix, including carbohydrates and glycoproteins by a cell. + ECM constituent secretion + ECM secretion + extracellular matrix constituent secretion + + + + @@ -37707,6 +49218,36 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. + regulation of microtubule cytoskeleton organisation + regulation of microtubule dynamics + regulation of microtubule cytoskeleton organization + + + + @@ -37899,6 +49440,18 @@ + + + + + + Any process in which a macromolecule is transported to, and/or maintained in, a specific location at the level of a cell. Localization at the cellular level encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. + cellular macromolecule localisation + cellular macromolecule localization + + + + @@ -38144,6 +49697,17 @@ + + + + + + The aggregation, arrangement and bonding together of a set of components to form an organelle. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. + organelle assembly + + + + @@ -38265,6 +49829,17 @@ + + + + + A cellular process that results in a change in the spatial configuration of a DNA molecule. A conformation change can bend DNA, or alter the, twist, writhe, or linking number of a DNA molecule. + DNA conformation modification + DNA conformation change + + + + @@ -38408,6 +49983,100 @@ + + + + + + The movement of a granulocyte in response to an external stimulus. + granulocyte chemotaxis + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. + regulation of granulocyte chemotaxis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. + negative regulation of granulocyte chemotaxis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency or extent of granulocyte chemotaxis. Granulocyte chemotaxis is the movement of a granulocyte in response to an external stimulus. + positive regulation of granulocyte chemotaxis + + + + @@ -38462,6 +50131,91 @@ + + + + + The process in which immunoglobulin heavy chain V, D, and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). + immunoglobulin V(D)J joining + immunoglobulin V(D)J recombination + immunoglobulin V-D-J joining + immunoglobulin heavy chain V-D-J recombination + + + + + + + + + The process in which immunoglobulin light chain V and J gene segments are recombined within a single locus utilizing the conserved heptamer and nonomer recombination signal sequences (RSS). + immunoglobulin V(D)J joining + immunoglobulin V(D)J recombination + immunoglobulin V-J joining + immunoglobulin light chain V-J recombination + + + + + + + + + A protein complex composed of two identical immunoglobulin heavy chains of an IgG isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgG 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. + IgG1 + IgG2 + IgG2a + IgG2b + IgG2c + IgG3 + IgG4 + IgG immunoglobulin complex + + + + + + + + + A protein complex composed of two identical immunoglobulin heavy chains of the IgD isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgD 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. + IgD immunoglobulin complex + + + + + + + + + A protein complex composed of two identical immunoglobulin heavy chains of the IgE isotype and two identical immunoglobulin light chains, held together by disulfide bonds. An IgE 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. + IgE immunoglobulin complex + + + + + + + + + A protein complex composed of two identical immunoglobulin heavy chains of the IgA isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and sometimes complexed with J chain or J chain and secretory component. An IgA 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. + IgA1 antibody + IgA2 antibody + IgA immunoglobulin complex + + + + + + + + + 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. + IgM immunoglobulin complex + + + + @@ -38495,6 +50249,25 @@ + + + + + + + + + + + + + The aggregation, arrangement and bonding together of a set of components to form an extracellular vesicular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Exosomes are defined by their size, which generally ranges from 30 nm to 100 nm. + extracellular vesicular exosome assembly + extracellular exosome assembly + + + + @@ -39133,6 +50906,92 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. + regulation of neutrophil chemotaxis + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. + positive regulation of neutrophil chemotaxis + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. + negative regulation of neutrophil chemotaxis + + + + @@ -39233,6 +51092,33 @@ + + + + + + + + + + + + + + + + + + + + + + Any process in which mitochondrial DNA and associated proteins are formed into a compact, orderly structure. + mitochondrial DNA packaging + + + + @@ -39409,6 +51295,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. + regulation of somatostatin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. + positive regulation of somatostatin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency, extent of the regulated release of somatostatin from secretory granules in the D cells of the pancreas. + negative regulation of somatostatin secretion + + + + @@ -39631,6 +51600,66 @@ + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the directed movement of proteins within cells. + positive regulation of intracellular protein transport + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of the directed movement of proteins within cells. + negative regulation of intracellular protein transport + + + + @@ -39856,6 +51885,16 @@ + + + + + The process in which a precursor cell type acquires the specialized features of a dendritic cell. A dendritic cell is a leukocyte of dendritic lineage specialized in the uptake, processing, and transport of antigens to lymph nodes for the purpose of stimulating an immune response via T cell activation. + dendritic cell differentiation + + + + @@ -39888,6 +51927,60 @@ + + + + + + The process whose specific outcome is the formation of tooth enamel, occurring in two stages: secretory stage and maturation stage. + enamel development + amelogenesis + + + + + + + + + + + + + + + A series of molecular signals which triggers the apoptotic death of a cell. The pathway starts with reception of a signal, and ends when the execution phase of apoptosis is triggered. + apoptotic signalling pathway + induction of apoptosis by extracellular signals + apoptotic signaling pathway + + + + + + + + + + + + + + + + + + + + + A stage of the apoptotic process that starts with the controlled breakdown of the cell through the action of effector caspases or other effector molecules (e.g. cathepsins, calpains etc.). Key steps of the execution phase are rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. + execution phase of apoptotic process + apoptosis + execution phase of apoptosis + + + + @@ -39934,6 +52027,36 @@ + + + + + The covalent attachment of sialic acid to a substrate molecule. + sialylation + + + + + + + + + The movement of a myeloid leukocyte within or between different tissues and organs of the body. + myeloid leukocyte migration + + + + + + + + + The movement of a granulocyte within or between different tissues and organs of the body. + granulocyte migration + + + + @@ -39966,6 +52089,40 @@ + + + + + + + + + + + The docking of a cytosolic centriole/basal body to the plasma membrane via the ciliary transition fibers. In some species this may happen via an intermediate step, by first docking to the ciliary vesicle via the ciliary transition fibers. The basal body-ciliary vesicle then relocates to the plasma membrane, followed by the ciliary vesicle fusing with the plasma membrane, effectively attaching the basal body to the plasma membrane. + ciliary basal body docking + anchoring of the basal body to the plasma membrane + ciliary basal body-plasma membrane docking + + + + + + + + + + + + + + + The process in which vesicles formed at the trans-Golgi network are directed to the plasma membrane surrounding the base of the cilium, including the ciliary pocket, mediated by molecules at the vesicle membrane and target membrane surfaces. + vesicle targeting, trans-Golgi to periciliary membrane compartment + + + + @@ -39977,6 +52134,21 @@ + + + + + The assembly and secretion of an extracellular exosome, a membrane-bounded vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. + exosome assembly or secretion + exosome biogenesis + exosome production + ILV assembly + intraluminal vesicle assembly + extracellular exosome biogenesis + + + + @@ -40023,6 +52195,17 @@ + + + + + + Reactions triggered in response to the presence of another organism that act to protect the cell or organism from damage caused by that organism. + defense response to other organism + + + + @@ -40046,6 +52229,16 @@ + + + + + The lipid bilayer that forms the outer-most layer of an organelle. + bounding membrane of organelle + + + + @@ -40522,6 +52715,17 @@ + + + + + + Any protein complex that is part of the plasma membrane and which functions as a receptor. + plasma membrane receptor complex + + + + @@ -40559,6 +52763,17 @@ + + + + + + The process in which genetic material, in the form of nuclear chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets. Nuclear chromosome segregation begins with the condensation of chromosomes, includes chromosome separation, and ends when chromosomes have completed movement to the spindle poles. + nuclear chromosome segregation + + + + @@ -40619,6 +52834,34 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of action potential creation, propagation or termination. This typically occurs via modulation of the activity or expression of voltage-gated ion channels. + regulation of action potential + + + + @@ -40862,6 +53105,47 @@ + + + + + + A microtubule-based process that results in the transport of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. + microtubule-based transport + + + + + + + + + + + + + + + + + + + + + + + + + + + The regulated release of dopamine from an axon. + axonal DA release + axonal dopamine release + axonal dopamine secretion + + + + @@ -41723,6 +54007,139 @@ + + + + + + Formation of a prolongation or process extending and that is bounded by plasma membrane, e.g. a cilium, lamellipodium, or axon. + plasma membrane bounded cell projection assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of plasma membrane bounded cell projection assembly. + regulation of plasma membrane bounded cell projection assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of plasma membrane bounded cell projection assembly. + negative regulation of plasma membrane bounded cell projection assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of plasma membrane bounded cell projection assembly. + positive regulation of plasma membrane bounded cell projection assembly + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of plasma membrane bounded cell projections. + regulation of plasma membrane bounded cell projection organization + + + + + + + + + A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a plasma membrane bounded prolongation or process extending from a cell, e.g. a cilium or axon. + plasma membrane bounded cell projection organization + + + + @@ -41810,6 +54227,28 @@ + + + + + + + + + + + + + + + + + A mitotic cell cycle process comprising the steps by which the nucleus of a eukaryotic cell divides; the process involves condensation of chromosomal DNA into a highly compacted form. Canonically, mitosis produces two daughter nuclei whose chromosome complement is identical to that of the mother cell. + mitotic nuclear division + + + + @@ -41864,6 +54303,17 @@ + + + + + + The process by which an organelle membrane interacts with another membrane via molecular tethers that physically bridge the two membranes and attach them to each other. + organelle localization by membrane tethering + + + + @@ -41884,6 +54334,17 @@ + + + + + The assembly and secretion a set of components to form an extracellular vesicule, a membrane-bounded vesicle that is released into the extracellular region. Extracellular vesicles include exosomes, microvesicles and apoptotic bodies, based on the mechanism by which they are released from cells and differentiated based on their size and content. + extracellular vesicle assembly + extracellular vesicle biogenesis + + + + @@ -41977,6 +54438,99 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytokine production involved in inflammatory response. + regulation of cytokine production involved in acute inflammatory response + regulation of cytokine production involved in inflammatory response + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cytokine production involved in inflammatory response. + down regulation of cytokine production involved in acute inflammatory response + negative regulation of cytokine production involved in acute inflammatory response + down regulation of cytokine production involved in inflammatory response + negative regulation of cytokine production involved in inflammatory response + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cytokine production involved in inflammatory response. + up regulation of cytokine production involved in acute inflammatory response + positive regulation of cytokine production involved in acute inflammatory response + up regulation of cytokine production involved in inflammatory response + positive regulation of cytokine production involved in inflammatory response + + + + @@ -42218,6 +54772,97 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of execution phase of apoptosis. + regulation of execution phase of apoptosis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of execution phase of apoptosis. + down regulation of execution phase of apoptosis + down-regulation of execution phase of apoptosis + downregulation of execution phase of apoptosis + inhibition of execution phase of apoptosis + negative regulation of execution phase of apoptosis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of execution phase of apoptosis. + up regulation of execution phase of apoptosis + up-regulation of execution phase of apoptosis + upregulation of execution phase of apoptosis + activation of execution phase of apoptosis + positive regulation of execution phase of apoptosis + + + + @@ -42773,6 +55418,150 @@ + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of defense response to bacterium. + regulation of defence response to bacteria + regulation of defence response to bacterium + regulation of defense response to bacteria + regulation of antibacterial peptide activity + regulation of defense response to bacterium + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of defense response to bacterium. + down regulation of defence response to bacteria + down regulation of defence response to bacterium + down regulation of defense response to bacteria + down regulation of defense response to bacterium + down-regulation of defence response to bacteria + down-regulation of defence response to bacterium + down-regulation of defense response to bacteria + down-regulation of defense response to bacterium + downregulation of defence response to bacteria + downregulation of defence response to bacterium + downregulation of defense response to bacteria + downregulation of defense response to bacterium + inhibition of defence response to bacteria + inhibition of defence response to bacterium + inhibition of defense response to bacteria + negative regulation of defence response to bacteria + negative regulation of defence response to bacterium + negative regulation of defense response to bacteria + inhibition of defense response to bacterium + down regulation of antibacterial peptide activity + down-regulation of antibacterial peptide activity + downregulation of antibacterial peptide activity + inhibition of antibacterial peptide activity + negative regulation of antibacterial peptide activity + negative regulation of defense response to bacterium + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of defense response to bacterium. + activation of defence response to bacteria + activation of defence response to bacterium + activation of defense response to bacteria + positive regulation of defence response to bacteria + positive regulation of defence response to bacterium + positive regulation of defense response to bacteria + up regulation of defence response to bacteria + up regulation of defence response to bacterium + up regulation of defense response to bacteria + up regulation of defense response to bacterium + up-regulation of defence response to bacteria + up-regulation of defence response to bacterium + up-regulation of defense response to bacteria + up-regulation of defense response to bacterium + upregulation of defence response to bacteria + upregulation of defence response to bacterium + upregulation of defense response to bacteria + upregulation of defense response to bacterium + activation of defense response to bacterium + activation of antibacterial peptide activity + positive regulation of antibacterial peptide activity + up regulation of antibacterial peptide activity + up-regulation of antibacterial peptide activity + upregulation of antibacterial peptide activity + positive regulation of defense response to bacterium + + + + @@ -43130,6 +55919,35 @@ + + + + + + + + + + + + + + + + + + + + + + Any gene expression that is involved in extracellular matrix organization. Gene expression includes both transcription to produce an RNA transcript, and the translation of that mRNA into protein. Protein maturation is included in gene expression when required to form an active form of a product from an inactive precursor form. + expression of extracellular matrix proteins + extracellular matrix protein production + gene expression involved in extracellular matrix organization + + + + @@ -43294,6 +56112,16 @@ + + + + + The directed movement of a carbohydrate derivative into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + carbohydrate derivative transport + + + + @@ -43629,6 +56457,23 @@ + + + + + + + + + + + Enables the transfer of carbohydrate derivative from one side of a membrane to the other. + carbohydrate derivative transporter activity + carbohydrate derivative transmembrane transporter activity + + + + @@ -43669,6 +56514,133 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of hematopoietic progenitor cell differentiation. + regulation of haematopoietic progenitor cell differentiation + regulation of haemopoietic progenitor cell differentiation + regulation of hemopoietic progenitor cell differentiation + regulation of hematopoietic progenitor cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of hematopoietic progenitor cell differentiation. + down regulation of haematopoietic progenitor cell differentiation + down regulation of haemopoietic progenitor cell differentiation + down regulation of hemopoietic progenitor cell differentiation + down-regulation of haematopoietic progenitor cell differentiation + down-regulation of haemopoietic progenitor cell differentiation + down-regulation of hemopoietic progenitor cell differentiation + downregulation of haematopoietic progenitor cell differentiation + downregulation of haemopoietic progenitor cell differentiation + downregulation of hemopoietic progenitor cell differentiation + inhibition of haematopoietic progenitor cell differentiation + inhibition of haemopoietic progenitor cell differentiation + negative regulation of haematopoietic progenitor cell differentiation + negative regulation of haemopoietic progenitor cell differentiation + negative regulation of hemopoietic progenitor cell differentiation + inhibition of hemopoietic progenitor cell differentiation + down regulation of hematopoietic progenitor cell differentiation + down-regulation of hematopoietic progenitor cell differentiation + downregulation of hematopoietic progenitor cell differentiation + inhibition of hematopoietic progenitor cell differentiation + negative regulation of hematopoietic progenitor cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of hematopoietic progenitor cell differentiation. + activation of haematopoietic progenitor cell differentiation + activation of haemopoietic progenitor cell differentiation + positive regulation of haematopoietic progenitor cell differentiation + positive regulation of haemopoietic progenitor cell differentiation + positive regulation of hemopoietic progenitor cell differentiation + up regulation of haematopoietic progenitor cell differentiation + up regulation of haemopoietic progenitor cell differentiation + up regulation of hemopoietic progenitor cell differentiation + up-regulation of haematopoietic progenitor cell differentiation + up-regulation of haemopoietic progenitor cell differentiation + up-regulation of hemopoietic progenitor cell differentiation + upregulation of haematopoietic progenitor cell differentiation + upregulation of haemopoietic progenitor cell differentiation + upregulation of hemopoietic progenitor cell differentiation + activation of hemopoietic progenitor cell differentiation + activation of hematopoietic progenitor cell differentiation + up regulation of hematopoietic progenitor cell differentiation + up-regulation of hematopoietic progenitor cell differentiation + upregulation of hematopoietic progenitor cell differentiation + positive regulation of hematopoietic progenitor cell differentiation + + + + @@ -44368,6 +57340,97 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of muscle tissue development. + regulation of muscle tissue development + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. + down regulation of muscle tissue development + down-regulation of muscle tissue development + downregulation of muscle tissue development + inhibition of muscle tissue development + negative regulation of muscle tissue development + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of muscle tissue development. + up regulation of muscle tissue development + up-regulation of muscle tissue development + upregulation of muscle tissue development + activation of muscle tissue development + positive regulation of muscle tissue development + + + + @@ -44380,6 +57443,79 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cilium assembly. + regulation of ciliogenesis + regulation of cilium biogenesis + regulation of cilium assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cilium assembly. + down regulation of ciliogenesis + down regulation of cilium assembly + down-regulation of ciliogenesis + down-regulation of cilium assembly + downregulation of ciliogenesis + downregulation of cilium assembly + inhibition of ciliogenesis + negative regulation of ciliogenesis + inhibition of cilium assembly + down regulation of cilium biogenesis + down-regulation of cilium biogenesis + downregulation of cilium biogenesis + inhibition of cilium biogenesis + negative regulation of cilium biogenesis + negative regulation of cilium assembly + + + + @@ -44619,6 +57755,99 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of organelle assembly. + regulation of organelle assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of organelle assembly. + down regulation of organelle assembly + down-regulation of organelle assembly + downregulation of organelle assembly + inhibition of organelle assembly + negative regulation of organelle assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of organelle assembly. + up regulation of organelle assembly + up-regulation of organelle assembly + upregulation of organelle assembly + activation of organelle assembly + positive regulation of organelle assembly + + + + @@ -44642,6 +57871,40 @@ + + + + + + + + + + + + + + + + + + + + + + Any apoptotic process that is involved in blood vessel morphogenesis. + apoptotic cell death involved in patterning of blood vessels + apoptotic programmed cell death involved in patterning of blood vessels + programmed cell death by apoptosis involved in patterning of blood vessels + apoptosis involved in patterning of blood vessels + apoptotic program involved in patterning of blood vessels + type I programmed cell death involved in patterning of blood vessels + signaling (initiator) caspase activity involved in patterning of blood vessels + apoptotic process involved in blood vessel morphogenesis + + + + @@ -44652,6 +57915,173 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of apoptotic process involved in morphogenesis. + regulation of apoptosis involved in morphogenesis + regulation of apoptosis involved in development + regulation of morphogenetic apoptosis + regulation of apoptotic process involved in morphogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in morphogenesis. + down regulation of apoptotic process involved in morphogenesis + down-regulation of apoptotic process involved in morphogenesis + downregulation of apoptotic process involved in morphogenesis + down regulation of apoptosis involved in morphogenesis + down-regulation of apoptosis involved in morphogenesis + downregulation of apoptosis involved in morphogenesis + inhibition of apoptosis involved in morphogenesis + inhibition of apoptotic process involved in morphogenesis + negative regulation of apoptosis involved in morphogenesis + down regulation of apoptosis involved in development + down regulation of morphogenetic apoptosis + down-regulation of apoptosis involved in development + down-regulation of morphogenetic apoptosis + downregulation of apoptosis involved in development + downregulation of morphogenetic apoptosis + inhibition of apoptosis involved in development + inhibition of morphogenetic apoptosis + negative regulation of apoptosis involved in development + negative regulation of morphogenetic apoptosis + negative regulation of apoptotic process involved in morphogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of apoptotic process involved in morphogenesis. + up regulation of apoptotic process involved in morphogenesis + up-regulation of apoptotic process involved in morphogenesis + upregulation of apoptotic process involved in morphogenesis + activation of apoptosis involved in morphogenesis + activation of apoptotic process involved in morphogenesis + positive regulation of apoptosis involved in morphogenesis + up regulation of apoptosis involved in morphogenesis + up-regulation of apoptosis involved in morphogenesis + upregulation of apoptosis involved in morphogenesis + activation of apoptosis involved in development + activation of morphogenetic apoptosis + positive regulation of apoptosis involved in development + positive regulation of morphogenetic apoptosis + up regulation of apoptosis involved in development + up regulation of morphogenetic apoptosis + up-regulation of apoptosis involved in development + up-regulation of morphogenetic apoptosis + upregulation of apoptosis involved in development + upregulation of morphogenetic apoptosis + positive regulation of apoptotic process involved in morphogenesis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of chromosome condensation. + down regulation of chromosome condensation + down regulation of eukaryotic chromosome condensation + down regulation of nuclear chromosome condensation + down-regulation of chromosome condensation + down-regulation of eukaryotic chromosome condensation + down-regulation of nuclear chromosome condensation + downregulation of chromosome condensation + downregulation of eukaryotic chromosome condensation + downregulation of nuclear chromosome condensation + negative regulation of eukaryotic chromosome condensation + negative regulation of nuclear chromosome condensation + inhibition of chromosome condensation + inhibition of eukaryotic chromosome condensation + inhibition of nuclear chromosome condensation + negative regulation of chromosome condensation + + + + @@ -44663,6 +58093,117 @@ + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of sperm capacitation. + regulation of sperm activation + regulation of sperm capacitation + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of sperm capacitation. + down regulation of sperm capacitation + down-regulation of sperm capacitation + downregulation of sperm capacitation + inhibition of sperm capacitation + down regulation of sperm activation + down-regulation of sperm activation + downregulation of sperm activation + inhibition of sperm activation + negative regulation of sperm activation + negative regulation of sperm capacitation + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of sperm capacitation. + up regulation of sperm capacitation + up-regulation of sperm capacitation + upregulation of sperm capacitation + activation of sperm capacitation + activation of sperm activation + positive regulation of sperm activation + up regulation of sperm activation + up-regulation of sperm activation + upregulation of sperm activation + positive regulation of sperm capacitation + + + + @@ -44954,6 +58495,97 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of neutrophil migration. + regulation of neutrophil migration + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of neutrophil migration. + down regulation of neutrophil migration + down-regulation of neutrophil migration + downregulation of neutrophil migration + inhibition of neutrophil migration + negative regulation of neutrophil migration + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of neutrophil migration. + up regulation of neutrophil migration + up-regulation of neutrophil migration + upregulation of neutrophil migration + activation of neutrophil migration + positive regulation of neutrophil migration + + + + @@ -45088,6 +58720,86 @@ + + + + + + + + + + + + + + + + + + + + + + Any apoptotic process that is involved in anatomical structure development. + apoptotic cell death involved in anatomical structure development + apoptotic cell death involved in development of an anatomical structure + apoptotic process involved in anatomical structure development + apoptotic process involved in development of an anatomical structure + apoptotic programmed cell death involved in anatomical structure development + apoptotic programmed cell death involved in development of an anatomical structure + programmed cell death by apoptosis involved in anatomical structure development + programmed cell death by apoptosis involved in development of an anatomical structure + activation of apoptosis involved in anatomical structure development + activation of apoptosis involved in development of an anatomical structure + apoptosis involved in anatomical structure development + apoptosis involved in development of an anatomical structure + apoptosis signaling involved in anatomical structure development + apoptosis signaling involved in development of an anatomical structure + apoptotic program involved in anatomical structure development + apoptotic program involved in development of an anatomical structure + type I programmed cell death involved in anatomical structure development + type I programmed cell death involved in development of an anatomical structure + apoptosis activator activity involved in anatomical structure development + apoptosis activator activity involved in development of an anatomical structure + commitment to apoptosis involved in anatomical structure development + commitment to apoptosis involved in development of an anatomical structure + induction of apoptosis by p53 involved in anatomical structure development + induction of apoptosis by p53 involved in development of an anatomical structure + induction of apoptosis involved in anatomical structure development + induction of apoptosis involved in development of an anatomical structure + signaling (initiator) caspase activity involved in anatomical structure development + signaling (initiator) caspase activity involved in development of an anatomical structure + apoptotic process involved in development + + + + + + + + + + + + + + + + + + + + + Any microtubule cytoskeleton organization that is involved in mitosis. + microtubule cytoskeleton organisation involved in mitosis + microtubule dynamics involved in mitosis + microtubule cytoskeleton organization and biogenesis involved in mitosis + microtubule cytoskeleton organization involved in mitosis + + + + @@ -45722,12 +59434,40 @@ + A process that is part of the meiotic cell cycle. meiotic cell cycle process + + + + + + + + + + + + + + + + + + + + + + A process that is part of the mitotic cell cycle. + mitotic cell cycle process + + + + @@ -45791,6 +59531,119 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of extracellular matrix organization. + regulation of extracellular matrix organisation + regulation of extracellular matrix organization and biogenesis + regulation of extracellular matrix organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of extracellular matrix organization. + down regulation of extracellular matrix organisation + down regulation of extracellular matrix organization + down-regulation of extracellular matrix organisation + down-regulation of extracellular matrix organization + downregulation of extracellular matrix organisation + downregulation of extracellular matrix organization + negative regulation of extracellular matrix organisation + inhibition of extracellular matrix organisation + inhibition of extracellular matrix organization + down regulation of extracellular matrix organization and biogenesis + down-regulation of extracellular matrix organization and biogenesis + downregulation of extracellular matrix organization and biogenesis + inhibition of extracellular matrix organization and biogenesis + negative regulation of extracellular matrix organization and biogenesis + negative regulation of extracellular matrix organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of extracellular matrix organization. + positive regulation of extracellular matrix organisation + up regulation of extracellular matrix organisation + up regulation of extracellular matrix organization + up-regulation of extracellular matrix organisation + up-regulation of extracellular matrix organization + upregulation of extracellular matrix organisation + upregulation of extracellular matrix organization + activation of extracellular matrix organisation + activation of extracellular matrix organization + activation of extracellular matrix organization and biogenesis + positive regulation of extracellular matrix organization and biogenesis + up regulation of extracellular matrix organization and biogenesis + up-regulation of extracellular matrix organization and biogenesis + upregulation of extracellular matrix organization and biogenesis + positive regulation of extracellular matrix organization + + + + @@ -45977,6 +59830,16 @@ + + + + + The process in which a relatively unspecialized cell acquires the specialized features of a mononuclear cell. + mononuclear cell differentiation + + + + @@ -46600,6 +60463,202 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of nucleus organization. + regulation of nuclear organisation + regulation of nuclear organization + regulation of nuclear morphology + regulation of nuclear organization and biogenesis + regulation of nucleus organization and biogenesis + regulation of nucleus organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of mitotic chromosome condensation. + regulation of mitotic chromosome condensation + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of mitotic chromosome condensation. + up regulation of mitotic chromosome condensation + up-regulation of mitotic chromosome condensation + upregulation of mitotic chromosome condensation + activation of mitotic chromosome condensation + positive regulation of mitotic chromosome condensation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cell maturation. + regulation of functional differentiation + regulation of cell maturation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cell maturation. + down regulation of cell maturation + down-regulation of cell maturation + downregulation of cell maturation + inhibition of cell maturation + down regulation of functional differentiation + down-regulation of functional differentiation + downregulation of functional differentiation + inhibition of functional differentiation + negative regulation of functional differentiation + negative regulation of cell maturation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cell maturation. + up regulation of cell maturation + up-regulation of cell maturation + upregulation of cell maturation + activation of cell maturation + activation of functional differentiation + positive regulation of functional differentiation + up regulation of functional differentiation + up-regulation of functional differentiation + upregulation of functional differentiation + positive regulation of cell maturation + + + + @@ -47018,6 +61077,100 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of extracellular vesicular exosome assembly. + regulation of extracellular vesicular exosome assembly + regulation of extracellular exosome assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of extracellular vesicular exosome assembly. + down regulation of extracellular vesicular exosome assembly + down-regulation of extracellular vesicular exosome assembly + downregulation of extracellular vesicular exosome assembly + negative regulation of extracellular vesicular exosome assembly + inhibition of extracellular vesicular exosome assembly + negative regulation of extracellular exosome assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of extracellular vesicular exosome assembly. + up regulation of extracellular vesicular exosome assembly + up-regulation of extracellular vesicular exosome assembly + upregulation of extracellular vesicular exosome assembly + activation of extracellular vesicular exosome assembly + positive regulation of extracellular vesicular exosome assembly + positive regulation of extracellular exosome assembly + + + + @@ -47041,6 +61194,97 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of protein localization to cilium. + regulation of protein localization to cilium + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to cilium. + down regulation of protein localization to cilium + down-regulation of protein localization to cilium + downregulation of protein localization to cilium + inhibition of protein localization to cilium + negative regulation of protein localization to cilium + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of protein localization to cilium. + up regulation of protein localization to cilium + up-regulation of protein localization to cilium + upregulation of protein localization to cilium + activation of protein localization to cilium + positive regulation of protein localization to cilium + + + + @@ -48184,6 +62428,131 @@ + + + + + + The process in which an organic acid is transported across a membrane. + organic acid transmembrane transport + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. + regulation of cellular protein localisation + regulation of channel localizer activity + regulation of cellular protein localization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. + down regulation of cellular protein localisation + down regulation of cellular protein localization + down-regulation of cellular protein localisation + down-regulation of cellular protein localization + downregulation of cellular protein localisation + downregulation of cellular protein localization + negative regulation of cellular protein localisation + down regulation of channel localizer activity + down-regulation of channel localizer activity + downregulation of channel localizer activity + inhibition of cellular protein localisation + inhibition of cellular protein localization + inhibition of channel localizer activity + negative regulation of channel localizer activity + negative regulation of cellular protein localization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cellular protein localization. Cellular protein localization is any process in which a protein is transported to, and/or maintained in, a specific location and encompasses movement within the cell, from within the cell to the cell surface, or from one location to another at the surface of a cell. + positive regulation of cellular protein localisation + up regulation of cellular protein localisation + up regulation of cellular protein localization + up-regulation of cellular protein localisation + up-regulation of cellular protein localization + upregulation of cellular protein localisation + upregulation of cellular protein localization + activation of cellular protein localisation + activation of cellular protein localization + activation of channel localizer activity + positive regulation of channel localizer activity + up regulation of channel localizer activity + up-regulation of channel localizer activity + upregulation of channel localizer activity + positive regulation of cellular protein localization + + + + @@ -48695,6 +63064,47 @@ + + + + + + + + + + + + + + + + + + + + + + Any positive regulation of transcription from RNA polymerase II promoter that is involved in neuron differentiation. + activation of transcription from RNA polymerase II promoter involved in neuron differentiation + positive regulation of transcription from Pol II promoter involved in neuron differentiation + stimulation of transcription from RNA polymerase II promoter involved in neuron differentiation + up regulation of transcription from RNA polymerase II promoter involved in neuron differentiation + up-regulation of transcription from RNA polymerase II promoter involved in neuron differentiation + upregulation of transcription from RNA polymerase II promoter involved in neuron differentiation + stimulation of global transcription from RNA polymerase II promoter involved in neuron differentiation + activation of global transcription from RNA polymerase II promoter involved in neuron differentiation + positive regulation of gene-specific transcription from RNA polymerase II promoter involved in neuron differentiation + positive regulation of global transcription from Pol II promoter involved in neuron differentiation + positive regulation of transcription from RNA polymerase II promoter, global involved in neuron differentiation + up regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation + up-regulation of global transcription from RNA polymerase II promoter involved in neuron differentiation + upregulation of global transcription from RNA polymerase II promoter involved in neuron differentiation + positive regulation of transcription from RNA polymerase II promoter involved in neuron differentiation + + + + @@ -48915,6 +63325,244 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of bleb assembly. + regulation of cell blebbing + regulation of bleb assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of bleb assembly. + down regulation of bleb assembly + down regulation of cell blebbing + down-regulation of bleb assembly + down-regulation of cell blebbing + downregulation of bleb assembly + downregulation of cell blebbing + negative regulation of cell blebbing + inhibition of bleb assembly + inhibition of cell blebbing + negative regulation of bleb assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of bleb assembly. + positive regulation of cell blebbing + up regulation of bleb assembly + up regulation of cell blebbing + up-regulation of bleb assembly + up-regulation of cell blebbing + upregulation of bleb assembly + upregulation of cell blebbing + activation of bleb assembly + activation of cell blebbing + positive regulation of bleb assembly + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of serine C-palmitoyltransferase activity. + regulation of serine palmitoyltransferase + regulation of 3-oxosphinganine synthetase activity + regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + regulation of SPT + regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + regulation of serine C-palmitoyltransferase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of serine C-palmitoyltransferase activity. + down regulation of 3-oxosphinganine synthetase activity + down regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + down regulation of serine C-palmitoyltransferase activity + down-regulation of 3-oxosphinganine synthetase activity + down-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + down-regulation of serine C-palmitoyltransferase activity + downregulation of 3-oxosphinganine synthetase activity + downregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + downregulation of serine C-palmitoyltransferase activity + negative regulation of 3-oxosphinganine synthetase activity + negative regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + inhibition of 3-oxosphinganine synthetase activity + inhibition of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + inhibition of serine C-palmitoyltransferase activity + down regulation of SPT + down regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + down-regulation of SPT + down-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + downregulation of SPT + downregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + inhibition of SPT + inhibition of acyl-CoA:serine C-2 acyltransferase decarboxylating + negative regulation of SPT + negative regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + negative regulation of serine C-palmitoyltransferase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of serine C-palmitoyltransferase activity. + positive regulation of 3-oxosphinganine synthetase activity + positive regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + up regulation of 3-oxosphinganine synthetase activity + up regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + up regulation of serine C-palmitoyltransferase activity + up-regulation of 3-oxosphinganine synthetase activity + up-regulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + up-regulation of serine C-palmitoyltransferase activity + upregulation of 3-oxosphinganine synthetase activity + upregulation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + upregulation of serine C-palmitoyltransferase activity + activation of 3-oxosphinganine synthetase activity + activation of palmitoyl-CoA:L-serine C-palmitoyltransferase (decarboxylating) activity + activation of serine C-palmitoyltransferase activity + activation of SPT + activation of acyl-CoA:serine C-2 acyltransferase decarboxylating + positive regulation of SPT + positive regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + up regulation of SPT + up regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + up-regulation of SPT + up-regulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + upregulation of SPT + upregulation of acyl-CoA:serine C-2 acyltransferase decarboxylating + positive regulation of serine C-palmitoyltransferase activity + + + + @@ -49044,6 +63692,213 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of calcitonin secretion. + regulation of calcitonin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of calcitonin secretion. + down regulation of calcitonin secretion + down-regulation of calcitonin secretion + downregulation of calcitonin secretion + inhibition of calcitonin secretion + negative regulation of calcitonin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of calcitonin secretion. + up regulation of calcitonin secretion + up-regulation of calcitonin secretion + upregulation of calcitonin secretion + activation of calcitonin secretion + positive regulation of calcitonin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of secretory granule organization. + regulation of secretory granule organisation + regulation of secretory granule organization and biogenesis + regulation of secretory granule organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of secretory granule organization. + down regulation of secretory granule organisation + down regulation of secretory granule organization + down-regulation of secretory granule organisation + down-regulation of secretory granule organization + downregulation of secretory granule organisation + downregulation of secretory granule organization + negative regulation of secretory granule organisation + inhibition of secretory granule organisation + inhibition of secretory granule organization + down regulation of secretory granule organization and biogenesis + down-regulation of secretory granule organization and biogenesis + downregulation of secretory granule organization and biogenesis + inhibition of secretory granule organization and biogenesis + negative regulation of secretory granule organization and biogenesis + negative regulation of secretory granule organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of secretory granule organization. + positive regulation of secretory granule organisation + up regulation of secretory granule organisation + up regulation of secretory granule organization + up-regulation of secretory granule organisation + up-regulation of secretory granule organization + upregulation of secretory granule organisation + upregulation of secretory granule organization + activation of secretory granule organisation + activation of secretory granule organization + activation of secretory granule organization and biogenesis + positive regulation of secretory granule organization and biogenesis + up regulation of secretory granule organization and biogenesis + up-regulation of secretory granule organization and biogenesis + upregulation of secretory granule organization and biogenesis + positive regulation of secretory granule organization + + + + @@ -49294,6 +64149,108 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of somatic stem cell division. + regulation of somatic stem cell renewal + regulation of somatic stem cell division + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of somatic stem cell division. + down regulation of somatic stem cell division + down regulation of somatic stem cell renewal + down-regulation of somatic stem cell division + down-regulation of somatic stem cell renewal + downregulation of somatic stem cell division + downregulation of somatic stem cell renewal + negative regulation of somatic stem cell renewal + inhibition of somatic stem cell division + inhibition of somatic stem cell renewal + negative regulation of somatic stem cell division + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of somatic stem cell division. + positive regulation of somatic stem cell renewal + up regulation of somatic stem cell division + up regulation of somatic stem cell renewal + up-regulation of somatic stem cell division + up-regulation of somatic stem cell renewal + upregulation of somatic stem cell division + upregulation of somatic stem cell renewal + activation of somatic stem cell division + activation of somatic stem cell renewal + positive regulation of somatic stem cell division + + + + @@ -49388,6 +64345,408 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic process involved in development. + down regulation of apoptotic cell death involved in anatomical structure development + down regulation of apoptotic cell death involved in development of an anatomical structure + down regulation of apoptotic process involved in anatomical structure development + down regulation of apoptotic process involved in development + down regulation of apoptotic process involved in development of an anatomical structure + down regulation of apoptotic programmed cell death involved in anatomical structure development + down regulation of apoptotic programmed cell death involved in development of an anatomical structure + down regulation of programmed cell death by apoptosis involved in anatomical structure development + down regulation of programmed cell death by apoptosis involved in development of an anatomical structure + down-regulation of apoptotic cell death involved in anatomical structure development + down-regulation of apoptotic cell death involved in development of an anatomical structure + down-regulation of apoptotic process involved in anatomical structure development + down-regulation of apoptotic process involved in development + down-regulation of apoptotic process involved in development of an anatomical structure + down-regulation of apoptotic programmed cell death involved in anatomical structure development + down-regulation of apoptotic programmed cell death involved in development of an anatomical structure + down-regulation of programmed cell death by apoptosis involved in anatomical structure development + down-regulation of programmed cell death by apoptosis involved in development of an anatomical structure + downregulation of apoptotic cell death involved in anatomical structure development + downregulation of apoptotic cell death involved in development of an anatomical structure + downregulation of apoptotic process involved in anatomical structure development + downregulation of apoptotic process involved in development + downregulation of apoptotic process involved in development of an anatomical structure + downregulation of apoptotic programmed cell death involved in anatomical structure development + downregulation of apoptotic programmed cell death involved in development of an anatomical structure + downregulation of programmed cell death by apoptosis involved in anatomical structure development + downregulation of programmed cell death by apoptosis involved in development of an anatomical structure + negative regulation of apoptotic cell death involved in anatomical structure development + negative regulation of apoptotic cell death involved in development of an anatomical structure + negative regulation of apoptotic process involved in anatomical structure development + negative regulation of apoptotic process involved in development of an anatomical structure + negative regulation of apoptotic programmed cell death involved in anatomical structure development + negative regulation of apoptotic programmed cell death involved in development of an anatomical structure + negative regulation of programmed cell death by apoptosis involved in anatomical structure development + negative regulation of programmed cell death by apoptosis involved in development of an anatomical structure + down regulation of activation of apoptosis involved in anatomical structure development + down regulation of activation of apoptosis involved in development of an anatomical structure + down regulation of apoptosis involved in anatomical structure development + down regulation of apoptosis involved in development of an anatomical structure + down regulation of apoptosis signaling involved in anatomical structure development + down regulation of apoptosis signaling involved in development of an anatomical structure + down regulation of apoptotic program involved in anatomical structure development + down regulation of apoptotic program involved in development of an anatomical structure + down regulation of type I programmed cell death involved in anatomical structure development + down regulation of type I programmed cell death involved in development of an anatomical structure + down-regulation of activation of apoptosis involved in anatomical structure development + down-regulation of activation of apoptosis involved in development of an anatomical structure + down-regulation of apoptosis involved in anatomical structure development + down-regulation of apoptosis involved in development of an anatomical structure + down-regulation of apoptosis signaling involved in anatomical structure development + down-regulation of apoptosis signaling involved in development of an anatomical structure + down-regulation of apoptotic program involved in anatomical structure development + down-regulation of apoptotic program involved in development of an anatomical structure + down-regulation of type I programmed cell death involved in anatomical structure development + down-regulation of type I programmed cell death involved in development of an anatomical structure + downregulation of activation of apoptosis involved in anatomical structure development + downregulation of activation of apoptosis involved in development of an anatomical structure + downregulation of apoptosis involved in anatomical structure development + downregulation of apoptosis involved in development of an anatomical structure + downregulation of apoptosis signaling involved in anatomical structure development + downregulation of apoptosis signaling involved in development of an anatomical structure + downregulation of apoptotic program involved in anatomical structure development + downregulation of apoptotic program involved in development of an anatomical structure + downregulation of type I programmed cell death involved in anatomical structure development + downregulation of type I programmed cell death involved in development of an anatomical structure + inhibition of activation of apoptosis involved in anatomical structure development + inhibition of activation of apoptosis involved in development of an anatomical structure + inhibition of apoptosis involved in anatomical structure development + inhibition of apoptosis involved in development of an anatomical structure + inhibition of apoptosis signaling involved in anatomical structure development + inhibition of apoptosis signaling involved in development of an anatomical structure + inhibition of apoptotic cell death involved in anatomical structure development + inhibition of apoptotic cell death involved in development of an anatomical structure + inhibition of apoptotic process involved in anatomical structure development + inhibition of apoptotic process involved in development + inhibition of apoptotic process involved in development of an anatomical structure + inhibition of apoptotic program involved in anatomical structure development + inhibition of apoptotic program involved in development of an anatomical structure + inhibition of apoptotic programmed cell death involved in anatomical structure development + inhibition of apoptotic programmed cell death involved in development of an anatomical structure + inhibition of programmed cell death by apoptosis involved in anatomical structure development + inhibition of programmed cell death by apoptosis involved in development of an anatomical structure + inhibition of type I programmed cell death involved in anatomical structure development + inhibition of type I programmed cell death involved in development of an anatomical structure + negative regulation of activation of apoptosis involved in anatomical structure development + negative regulation of activation of apoptosis involved in development of an anatomical structure + negative regulation of apoptosis involved in anatomical structure development + negative regulation of apoptosis involved in development of an anatomical structure + negative regulation of apoptosis signaling involved in anatomical structure development + negative regulation of apoptosis signaling involved in development of an anatomical structure + negative regulation of apoptotic program involved in anatomical structure development + negative regulation of apoptotic program involved in development of an anatomical structure + negative regulation of type I programmed cell death involved in anatomical structure development + negative regulation of type I programmed cell death involved in development of an anatomical structure + down regulation of apoptosis activator activity involved in anatomical structure development + down regulation of apoptosis activator activity involved in development of an anatomical structure + down regulation of commitment to apoptosis involved in anatomical structure development + down regulation of commitment to apoptosis involved in development of an anatomical structure + down regulation of induction of apoptosis by p53 involved in anatomical structure development + down regulation of induction of apoptosis by p53 involved in development of an anatomical structure + down regulation of induction of apoptosis involved in anatomical structure development + down regulation of induction of apoptosis involved in development of an anatomical structure + down regulation of signaling (initiator) caspase activity involved in anatomical structure development + down regulation of signaling (initiator) caspase activity involved in development of an anatomical structure + down-regulation of apoptosis activator activity involved in anatomical structure development + down-regulation of apoptosis activator activity involved in development of an anatomical structure + down-regulation of commitment to apoptosis involved in anatomical structure development + down-regulation of commitment to apoptosis involved in development of an anatomical structure + down-regulation of induction of apoptosis by p53 involved in anatomical structure development + down-regulation of induction of apoptosis by p53 involved in development of an anatomical structure + down-regulation of induction of apoptosis involved in anatomical structure development + down-regulation of induction of apoptosis involved in development of an anatomical structure + down-regulation of signaling (initiator) caspase activity involved in anatomical structure development + down-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure + downregulation of apoptosis activator activity involved in anatomical structure development + downregulation of apoptosis activator activity involved in development of an anatomical structure + downregulation of commitment to apoptosis involved in anatomical structure development + downregulation of commitment to apoptosis involved in development of an anatomical structure + downregulation of induction of apoptosis by p53 involved in anatomical structure development + downregulation of induction of apoptosis by p53 involved in development of an anatomical structure + downregulation of induction of apoptosis involved in anatomical structure development + downregulation of induction of apoptosis involved in development of an anatomical structure + downregulation of signaling (initiator) caspase activity involved in anatomical structure development + downregulation of signaling (initiator) caspase activity involved in development of an anatomical structure + inhibition of apoptosis activator activity involved in anatomical structure development + inhibition of apoptosis activator activity involved in development of an anatomical structure + inhibition of commitment to apoptosis involved in anatomical structure development + inhibition of commitment to apoptosis involved in development of an anatomical structure + inhibition of induction of apoptosis by p53 involved in anatomical structure development + inhibition of induction of apoptosis by p53 involved in development of an anatomical structure + inhibition of induction of apoptosis involved in anatomical structure development + inhibition of induction of apoptosis involved in development of an anatomical structure + inhibition of signaling (initiator) caspase activity involved in anatomical structure development + inhibition of signaling (initiator) caspase activity involved in development of an anatomical structure + negative regulation of apoptosis activator activity involved in anatomical structure development + negative regulation of apoptosis activator activity involved in development of an anatomical structure + negative regulation of commitment to apoptosis involved in anatomical structure development + negative regulation of commitment to apoptosis involved in development of an anatomical structure + negative regulation of induction of apoptosis by p53 involved in anatomical structure development + negative regulation of induction of apoptosis by p53 involved in development of an anatomical structure + negative regulation of induction of apoptosis involved in anatomical structure development + negative regulation of induction of apoptosis involved in development of an anatomical structure + negative regulation of signaling (initiator) caspase activity involved in anatomical structure development + negative regulation of signaling (initiator) caspase activity involved in development of an anatomical structure + negative regulation of apoptotic process involved in development + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of apoptotic process involved in development. + positive regulation of apoptotic cell death involved in anatomical structure development + positive regulation of apoptotic cell death involved in development of an anatomical structure + positive regulation of apoptotic process involved in anatomical structure development + positive regulation of apoptotic process involved in development of an anatomical structure + positive regulation of apoptotic programmed cell death involved in anatomical structure development + positive regulation of apoptotic programmed cell death involved in development of an anatomical structure + positive regulation of programmed cell death by apoptosis involved in anatomical structure development + positive regulation of programmed cell death by apoptosis involved in development of an anatomical structure + up regulation of apoptotic cell death involved in anatomical structure development + up regulation of apoptotic cell death involved in development of an anatomical structure + up regulation of apoptotic process involved in anatomical structure development + up regulation of apoptotic process involved in development + up regulation of apoptotic process involved in development of an anatomical structure + up regulation of apoptotic programmed cell death involved in anatomical structure development + up regulation of apoptotic programmed cell death involved in development of an anatomical structure + up regulation of programmed cell death by apoptosis involved in anatomical structure development + up regulation of programmed cell death by apoptosis involved in development of an anatomical structure + up-regulation of apoptotic cell death involved in anatomical structure development + up-regulation of apoptotic cell death involved in development of an anatomical structure + up-regulation of apoptotic process involved in anatomical structure development + up-regulation of apoptotic process involved in development + up-regulation of apoptotic process involved in development of an anatomical structure + up-regulation of apoptotic programmed cell death involved in anatomical structure development + up-regulation of apoptotic programmed cell death involved in development of an anatomical structure + up-regulation of programmed cell death by apoptosis involved in anatomical structure development + up-regulation of programmed cell death by apoptosis involved in development of an anatomical structure + upregulation of apoptotic cell death involved in anatomical structure development + upregulation of apoptotic cell death involved in development of an anatomical structure + upregulation of apoptotic process involved in anatomical structure development + upregulation of apoptotic process involved in development + upregulation of apoptotic process involved in development of an anatomical structure + upregulation of apoptotic programmed cell death involved in anatomical structure development + upregulation of apoptotic programmed cell death involved in development of an anatomical structure + upregulation of programmed cell death by apoptosis involved in anatomical structure development + upregulation of programmed cell death by apoptosis involved in development of an anatomical structure + activation of activation of apoptosis involved in anatomical structure development + activation of activation of apoptosis involved in development of an anatomical structure + activation of apoptosis involved in anatomical structure development + activation of apoptosis involved in development of an anatomical structure + activation of apoptosis signaling involved in anatomical structure development + activation of apoptosis signaling involved in development of an anatomical structure + activation of apoptotic cell death involved in anatomical structure development + activation of apoptotic cell death involved in development of an anatomical structure + activation of apoptotic process involved in anatomical structure development + activation of apoptotic process involved in development + activation of apoptotic process involved in development of an anatomical structure + activation of apoptotic program involved in anatomical structure development + activation of apoptotic program involved in development of an anatomical structure + activation of apoptotic programmed cell death involved in anatomical structure development + activation of apoptotic programmed cell death involved in development of an anatomical structure + activation of programmed cell death by apoptosis involved in anatomical structure development + activation of programmed cell death by apoptosis involved in development of an anatomical structure + activation of type I programmed cell death involved in anatomical structure development + activation of type I programmed cell death involved in development of an anatomical structure + positive regulation of activation of apoptosis involved in anatomical structure development + positive regulation of activation of apoptosis involved in development of an anatomical structure + positive regulation of apoptosis involved in anatomical structure development + positive regulation of apoptosis involved in development of an anatomical structure + positive regulation of apoptosis signaling involved in anatomical structure development + positive regulation of apoptosis signaling involved in development of an anatomical structure + positive regulation of apoptotic program involved in anatomical structure development + positive regulation of apoptotic program involved in development of an anatomical structure + positive regulation of type I programmed cell death involved in anatomical structure development + positive regulation of type I programmed cell death involved in development of an anatomical structure + up regulation of activation of apoptosis involved in anatomical structure development + up regulation of activation of apoptosis involved in development of an anatomical structure + up regulation of apoptosis involved in anatomical structure development + up regulation of apoptosis involved in development of an anatomical structure + up regulation of apoptosis signaling involved in anatomical structure development + up regulation of apoptosis signaling involved in development of an anatomical structure + up regulation of apoptotic program involved in anatomical structure development + up regulation of apoptotic program involved in development of an anatomical structure + up regulation of type I programmed cell death involved in anatomical structure development + up regulation of type I programmed cell death involved in development of an anatomical structure + up-regulation of activation of apoptosis involved in anatomical structure development + up-regulation of activation of apoptosis involved in development of an anatomical structure + up-regulation of apoptosis involved in anatomical structure development + up-regulation of apoptosis involved in development of an anatomical structure + up-regulation of apoptosis signaling involved in anatomical structure development + up-regulation of apoptosis signaling involved in development of an anatomical structure + up-regulation of apoptotic program involved in anatomical structure development + up-regulation of apoptotic program involved in development of an anatomical structure + up-regulation of type I programmed cell death involved in anatomical structure development + up-regulation of type I programmed cell death involved in development of an anatomical structure + upregulation of activation of apoptosis involved in anatomical structure development + upregulation of activation of apoptosis involved in development of an anatomical structure + upregulation of apoptosis involved in anatomical structure development + upregulation of apoptosis involved in development of an anatomical structure + upregulation of apoptosis signaling involved in anatomical structure development + upregulation of apoptosis signaling involved in development of an anatomical structure + upregulation of apoptotic program involved in anatomical structure development + upregulation of apoptotic program involved in development of an anatomical structure + upregulation of type I programmed cell death involved in anatomical structure development + upregulation of type I programmed cell death involved in development of an anatomical structure + activation of apoptosis activator activity involved in anatomical structure development + activation of apoptosis activator activity involved in development of an anatomical structure + activation of commitment to apoptosis involved in anatomical structure development + activation of commitment to apoptosis involved in development of an anatomical structure + activation of induction of apoptosis by p53 involved in anatomical structure development + activation of induction of apoptosis by p53 involved in development of an anatomical structure + activation of induction of apoptosis involved in anatomical structure development + activation of induction of apoptosis involved in development of an anatomical structure + activation of signaling (initiator) caspase activity involved in anatomical structure development + activation of signaling (initiator) caspase activity involved in development of an anatomical structure + positive regulation of apoptosis activator activity involved in anatomical structure development + positive regulation of apoptosis activator activity involved in development of an anatomical structure + positive regulation of commitment to apoptosis involved in anatomical structure development + positive regulation of commitment to apoptosis involved in development of an anatomical structure + positive regulation of induction of apoptosis by p53 involved in anatomical structure development + positive regulation of induction of apoptosis by p53 involved in development of an anatomical structure + positive regulation of induction of apoptosis involved in anatomical structure development + positive regulation of induction of apoptosis involved in development of an anatomical structure + positive regulation of signaling (initiator) caspase activity involved in anatomical structure development + positive regulation of signaling (initiator) caspase activity involved in development of an anatomical structure + up regulation of apoptosis activator activity involved in anatomical structure development + up regulation of apoptosis activator activity involved in development of an anatomical structure + up regulation of commitment to apoptosis involved in anatomical structure development + up regulation of commitment to apoptosis involved in development of an anatomical structure + up regulation of induction of apoptosis by p53 involved in anatomical structure development + up regulation of induction of apoptosis by p53 involved in development of an anatomical structure + up regulation of induction of apoptosis involved in anatomical structure development + up regulation of induction of apoptosis involved in development of an anatomical structure + up regulation of signaling (initiator) caspase activity involved in anatomical structure development + up regulation of signaling (initiator) caspase activity involved in development of an anatomical structure + up-regulation of apoptosis activator activity involved in anatomical structure development + up-regulation of apoptosis activator activity involved in development of an anatomical structure + up-regulation of commitment to apoptosis involved in anatomical structure development + up-regulation of commitment to apoptosis involved in development of an anatomical structure + up-regulation of induction of apoptosis by p53 involved in anatomical structure development + up-regulation of induction of apoptosis by p53 involved in development of an anatomical structure + up-regulation of induction of apoptosis involved in anatomical structure development + up-regulation of induction of apoptosis involved in development of an anatomical structure + up-regulation of signaling (initiator) caspase activity involved in anatomical structure development + up-regulation of signaling (initiator) caspase activity involved in development of an anatomical structure + upregulation of apoptosis activator activity involved in anatomical structure development + upregulation of apoptosis activator activity involved in development of an anatomical structure + upregulation of commitment to apoptosis involved in anatomical structure development + upregulation of commitment to apoptosis involved in development of an anatomical structure + upregulation of induction of apoptosis by p53 involved in anatomical structure development + upregulation of induction of apoptosis by p53 involved in development of an anatomical structure + upregulation of induction of apoptosis involved in anatomical structure development + upregulation of induction of apoptosis involved in development of an anatomical structure + upregulation of signaling (initiator) caspase activity involved in anatomical structure development + upregulation of signaling (initiator) caspase activity involved in development of an anatomical structure + positive regulation of apoptotic process involved in development + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of apoptotic process involved in development. + regulation of apoptotic cell death involved in anatomical structure development + regulation of apoptotic cell death involved in development of an anatomical structure + regulation of apoptotic process involved in anatomical structure development + regulation of apoptotic process involved in development of an anatomical structure + regulation of apoptotic programmed cell death involved in anatomical structure development + regulation of apoptotic programmed cell death involved in development of an anatomical structure + regulation of programmed cell death by apoptosis involved in anatomical structure development + regulation of programmed cell death by apoptosis involved in development of an anatomical structure + regulation of activation of apoptosis involved in anatomical structure development + regulation of activation of apoptosis involved in development of an anatomical structure + regulation of apoptosis involved in anatomical structure development + regulation of apoptosis involved in development of an anatomical structure + regulation of apoptosis signaling involved in anatomical structure development + regulation of apoptosis signaling involved in development of an anatomical structure + regulation of apoptotic program involved in anatomical structure development + regulation of apoptotic program involved in development of an anatomical structure + regulation of type I programmed cell death involved in anatomical structure development + regulation of type I programmed cell death involved in development of an anatomical structure + regulation of apoptosis activator activity involved in anatomical structure development + regulation of apoptosis activator activity involved in development of an anatomical structure + regulation of commitment to apoptosis involved in anatomical structure development + regulation of commitment to apoptosis involved in development of an anatomical structure + regulation of induction of apoptosis by p53 involved in anatomical structure development + regulation of induction of apoptosis by p53 involved in development of an anatomical structure + regulation of induction of apoptosis involved in anatomical structure development + regulation of induction of apoptosis involved in development of an anatomical structure + regulation of signaling (initiator) caspase activity involved in anatomical structure development + regulation of signaling (initiator) caspase activity involved in development of an anatomical structure + regulation of apoptotic process involved in development + + + + @@ -49682,6 +65041,100 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of establishment of protein localization. + down regulation of establishment of protein localisation + down regulation of establishment of protein localization + down regulation of protein positioning + down regulation of protein recruitment + down-regulation of establishment of protein localisation + down-regulation of establishment of protein localization + down-regulation of protein positioning + down-regulation of protein recruitment + downregulation of establishment of protein localisation + downregulation of establishment of protein localization + downregulation of protein positioning + downregulation of protein recruitment + negative regulation of establishment of protein localisation + negative regulation of protein positioning + negative regulation of protein recruitment + inhibition of establishment of protein localisation + inhibition of establishment of protein localization + inhibition of protein positioning + inhibition of protein recruitment + negative regulation of establishment of protein localization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of establishment of protein localization. + positive regulation of establishment of protein localisation + positive regulation of protein positioning + positive regulation of protein recruitment + up regulation of establishment of protein localisation + up regulation of establishment of protein localization + up regulation of protein positioning + up regulation of protein recruitment + up-regulation of establishment of protein localisation + up-regulation of establishment of protein localization + up-regulation of protein positioning + up-regulation of protein recruitment + upregulation of establishment of protein localisation + upregulation of establishment of protein localization + upregulation of protein positioning + upregulation of protein recruitment + activation of establishment of protein localisation + activation of establishment of protein localization + activation of protein positioning + activation of protein recruitment + positive regulation of establishment of protein localization + + + + @@ -49743,6 +65196,18 @@ + + + + + + + The process in which carboxylic acid is transported across a membrane. + carboxylic acid transmembrane transport + + + + @@ -49777,6 +65242,243 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucosylceramidase activity. + regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + regulation of GCase activity + regulation of GlcCer-beta-glucosidase activity + regulation of acid beta-glucosidase activity + regulation of beta-D-glucocerebrosidase activity + regulation of beta-glucocerebrosidase activity + regulation of beta-glucosylceramidase activity + regulation of ceramide glucosidase activity + regulation of glucocerebrosidase activity + regulation of glucosphingosine glucosylhydrolase activity + regulation of glucosylcerebrosidase activity + regulation of glucosylsphingosine beta-D-glucosidase activity + regulation of glucosylsphingosine beta-glucosidase activity + regulation of psychosine hydrolase activity + regulation of glucosylceramidase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of glucosylceramidase activity. + down regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + down regulation of GlcCer-beta-glucosidase activity + down regulation of acid beta-glucosidase activity + down regulation of beta-D-glucocerebrosidase activity + down regulation of beta-glucocerebrosidase activity + down regulation of beta-glucosylceramidase activity + down regulation of ceramide glucosidase activity + down regulation of glucocerebrosidase activity + down regulation of glucosphingosine glucosylhydrolase activity + down regulation of glucosylceramidase activity + down regulation of glucosylcerebrosidase activity + down regulation of glucosylsphingosine beta-D-glucosidase activity + down regulation of glucosylsphingosine beta-glucosidase activity + down regulation of psychosine hydrolase activity + down-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + down-regulation of GlcCer-beta-glucosidase activity + down-regulation of acid beta-glucosidase activity + down-regulation of beta-D-glucocerebrosidase activity + down-regulation of beta-glucocerebrosidase activity + down-regulation of beta-glucosylceramidase activity + down-regulation of ceramide glucosidase activity + down-regulation of glucocerebrosidase activity + down-regulation of glucosphingosine glucosylhydrolase activity + down-regulation of glucosylceramidase activity + down-regulation of glucosylcerebrosidase activity + down-regulation of glucosylsphingosine beta-D-glucosidase activity + down-regulation of glucosylsphingosine beta-glucosidase activity + down-regulation of psychosine hydrolase activity + downregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + downregulation of GlcCer-beta-glucosidase activity + downregulation of acid beta-glucosidase activity + downregulation of beta-D-glucocerebrosidase activity + downregulation of beta-glucocerebrosidase activity + downregulation of beta-glucosylceramidase activity + downregulation of ceramide glucosidase activity + downregulation of glucocerebrosidase activity + downregulation of glucosphingosine glucosylhydrolase activity + downregulation of glucosylceramidase activity + downregulation of glucosylcerebrosidase activity + downregulation of glucosylsphingosine beta-D-glucosidase activity + downregulation of glucosylsphingosine beta-glucosidase activity + downregulation of psychosine hydrolase activity + negative regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + negative regulation of GCase activity + negative regulation of GlcCer-beta-glucosidase activity + negative regulation of acid beta-glucosidase activity + negative regulation of beta-D-glucocerebrosidase activity + negative regulation of beta-glucocerebrosidase activity + negative regulation of beta-glucosylceramidase activity + negative regulation of ceramide glucosidase activity + negative regulation of glucocerebrosidase activity + negative regulation of glucosphingosine glucosylhydrolase activity + negative regulation of glucosylcerebrosidase activity + negative regulation of glucosylsphingosine beta-D-glucosidase activity + negative regulation of glucosylsphingosine beta-glucosidase activity + negative regulation of psychosine hydrolase activity + inhibition of D-glucosyl-N-acylsphingosine glucohydrolase activity + inhibition of GlcCer-beta-glucosidase activity + inhibition of acid beta-glucosidase activity + inhibition of beta-D-glucocerebrosidase activity + inhibition of beta-glucocerebrosidase activity + inhibition of beta-glucosylceramidase activity + inhibition of ceramide glucosidase activity + inhibition of glucocerebrosidase activity + inhibition of glucosphingosine glucosylhydrolase activity + inhibition of glucosylceramidase activity + inhibition of glucosylcerebrosidase activity + inhibition of glucosylsphingosine beta-D-glucosidase activity + inhibition of glucosylsphingosine beta-glucosidase activity + inhibition of psychosine hydrolase activity + negative regulation of glucosylceramidase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of glucosylceramidase activity. + positive regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + positive regulation of GCase activity + positive regulation of GlcCer-beta-glucosidase activity + positive regulation of acid beta-glucosidase activity + positive regulation of beta-D-glucocerebrosidase activity + positive regulation of beta-glucocerebrosidase activity + positive regulation of beta-glucosylceramidase activity + positive regulation of ceramide glucosidase activity + positive regulation of glucocerebrosidase activity + positive regulation of glucosphingosine glucosylhydrolase activity + positive regulation of glucosylcerebrosidase activity + positive regulation of glucosylsphingosine beta-D-glucosidase activity + positive regulation of glucosylsphingosine beta-glucosidase activity + positive regulation of psychosine hydrolase activity + up regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + up regulation of GlcCer-beta-glucosidase activity + up regulation of acid beta-glucosidase activity + up regulation of beta-D-glucocerebrosidase activity + up regulation of beta-glucocerebrosidase activity + up regulation of beta-glucosylceramidase activity + up regulation of ceramide glucosidase activity + up regulation of glucocerebrosidase activity + up regulation of glucosphingosine glucosylhydrolase activity + up regulation of glucosylceramidase activity + up regulation of glucosylcerebrosidase activity + up regulation of glucosylsphingosine beta-D-glucosidase activity + up regulation of glucosylsphingosine beta-glucosidase activity + up regulation of psychosine hydrolase activity + up-regulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + up-regulation of GlcCer-beta-glucosidase activity + up-regulation of acid beta-glucosidase activity + up-regulation of beta-D-glucocerebrosidase activity + up-regulation of beta-glucocerebrosidase activity + up-regulation of beta-glucosylceramidase activity + up-regulation of ceramide glucosidase activity + up-regulation of glucocerebrosidase activity + up-regulation of glucosphingosine glucosylhydrolase activity + up-regulation of glucosylceramidase activity + up-regulation of glucosylcerebrosidase activity + up-regulation of glucosylsphingosine beta-D-glucosidase activity + up-regulation of glucosylsphingosine beta-glucosidase activity + up-regulation of psychosine hydrolase activity + upregulation of D-glucosyl-N-acylsphingosine glucohydrolase activity + upregulation of GlcCer-beta-glucosidase activity + upregulation of acid beta-glucosidase activity + upregulation of beta-D-glucocerebrosidase activity + upregulation of beta-glucocerebrosidase activity + upregulation of beta-glucosylceramidase activity + upregulation of ceramide glucosidase activity + upregulation of glucocerebrosidase activity + upregulation of glucosphingosine glucosylhydrolase activity + upregulation of glucosylceramidase activity + upregulation of glucosylcerebrosidase activity + upregulation of glucosylsphingosine beta-D-glucosidase activity + upregulation of glucosylsphingosine beta-glucosidase activity + upregulation of psychosine hydrolase activity + activation of D-glucosyl-N-acylsphingosine glucohydrolase activity + activation of GlcCer-beta-glucosidase activity + activation of acid beta-glucosidase activity + activation of beta-D-glucocerebrosidase activity + activation of beta-glucocerebrosidase activity + activation of beta-glucosylceramidase activity + activation of ceramide glucosidase activity + activation of glucocerebrosidase activity + activation of glucosphingosine glucosylhydrolase activity + activation of glucosylceramidase activity + activation of glucosylcerebrosidase activity + activation of glucosylsphingosine beta-D-glucosidase activity + activation of glucosylsphingosine beta-glucosidase activity + activation of psychosine hydrolase activity + positive regulation of glucosylceramidase activity + + + + @@ -49984,6 +65686,35 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of mitotic chromosome condensation. + negative regulation of mitotic chromosome condensation + + + + @@ -50365,6 +66096,27 @@ + + + + + + + + + + + The aggregation, arrangement and bonding together of a set of components to form a ciliary transition zone. + cilial transition zone assembly + cilial transition zone formation + ciliary transition zone formation + cilium transition zone assembly + cilium transition zone formation + ciliary transition zone assembly + + + + @@ -50578,6 +66330,71 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of chromosome condensation. + positive regulation of eukaryotic chromosome condensation + positive regulation of nuclear chromosome condensation + up regulation of chromosome condensation + up regulation of eukaryotic chromosome condensation + up regulation of nuclear chromosome condensation + up-regulation of chromosome condensation + up-regulation of eukaryotic chromosome condensation + up-regulation of nuclear chromosome condensation + upregulation of chromosome condensation + upregulation of eukaryotic chromosome condensation + upregulation of nuclear chromosome condensation + activation of chromosome condensation + activation of eukaryotic chromosome condensation + activation of nuclear chromosome condensation + positive regulation of chromosome condensation + + + + + + + + + + + + + + + + + + + + + Any DNA recombination that takes place in mitochondrion. + DNA recombination in mitochondria + mitochondrion DNA recombination + + + + @@ -50693,6 +66510,16 @@ + + + + + The movement of an neutrophil within or between different tissues and organs of the body. + neutrophil migration + + + + @@ -50747,6 +66574,21 @@ + + + + + A macromolecular complex containing both protein and RNA molecules. + RNA-protein complex + RNP + protein-RNA complex + ribonucleoprotein complex + intracellular ribonucleoprotein complex + ribonucleoprotein complex + + + + @@ -50804,6 +66646,34 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of stem cell division. + regulation of stem cell renewal + regulation of stem cell division + + + + @@ -51990,6 +67860,101 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cardiac muscle cell differentiation. + regulation of cardiomyocyte differentiation + regulation of heart muscle cell differentiation + regulation of cardiac muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cardiac muscle cell differentiation. + negative regulation of cardiomyocyte differentiation + negative regulation of heart muscle cell differentiation + negative regulation of cardiac muscle cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cardiac muscle cell differentiation. + positive regulation of cardiomyocyte differentiation + positive regulation of heart muscle cell differentiation + positive regulation of cardiac muscle cell differentiation + + + + @@ -53033,6 +68998,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of dendritic cell differentiation. + regulation of dendritic cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell differentiation. + negative regulation of dendritic cell differentiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of dendritic cell differentiation. + positive regulation of dendritic cell differentiation + + + + @@ -53178,6 +69226,159 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of apoptotic signaling pathway. + regulation of apoptotic signalling pathway + regulation of apoptotic signaling pathway + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of apoptotic signaling pathway. + negative regulation of apoptotic signalling pathway + negative regulation of apoptotic signaling pathway + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of apoptotic signaling pathway. + positive regulation of apoptotic signalling pathway + positive regulation of apoptotic signaling pathway + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of chromosome organization. + negative regulation of chromosome organisation + negative regulation of chromosome organization and biogenesis + negative regulation of maintenance of genome integrity + negative regulation of nuclear genome maintenance + negative regulation of chromosome organization + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of chromosome organization. + positive regulation of chromosome organisation + positive regulation of chromosome organization and biogenesis + positive regulation of maintenance of genome integrity + positive regulation of nuclear genome maintenance + positive regulation of chromosome organization + + + + diff --git a/src/ontology/imports/go_terms.txt b/src/ontology/imports/go_terms.txt index 655cbcbdd9..39b2179560 100644 --- a/src/ontology/imports/go_terms.txt +++ b/src/ontology/imports/go_terms.txt @@ -1,33 +1,306 @@ http://purl.obolibrary.org/obo/GO_0000002 +http://purl.obolibrary.org/obo/GO_0000003 +http://purl.obolibrary.org/obo/GO_0000018 +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_0000122 +http://purl.obolibrary.org/obo/GO_0000226 +http://purl.obolibrary.org/obo/GO_0000228 +http://purl.obolibrary.org/obo/GO_0000229 +http://purl.obolibrary.org/obo/GO_0000262 +http://purl.obolibrary.org/obo/GO_0000272 +http://purl.obolibrary.org/obo/GO_0000278 +http://purl.obolibrary.org/obo/GO_0000280 +http://purl.obolibrary.org/obo/GO_0000313 +http://purl.obolibrary.org/obo/GO_0000323 +http://purl.obolibrary.org/obo/GO_0000785 +http://purl.obolibrary.org/obo/GO_0000789 +http://purl.obolibrary.org/obo/GO_0000790 +http://purl.obolibrary.org/obo/GO_0000791 +http://purl.obolibrary.org/obo/GO_0000792 +http://purl.obolibrary.org/obo/GO_0000819 +http://purl.obolibrary.org/obo/GO_0000820 +http://purl.obolibrary.org/obo/GO_0000959 +http://purl.obolibrary.org/obo/GO_0000963 +http://purl.obolibrary.org/obo/GO_0000981 +http://purl.obolibrary.org/obo/GO_0000988 +http://purl.obolibrary.org/obo/GO_0001501 http://purl.obolibrary.org/obo/GO_0001503 +http://purl.obolibrary.org/obo/GO_0001505 +http://purl.obolibrary.org/obo/GO_0001508 +http://purl.obolibrary.org/obo/GO_0001523 +http://purl.obolibrary.org/obo/GO_0001568 http://purl.obolibrary.org/obo/GO_0001570 +http://purl.obolibrary.org/obo/GO_0001578 +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_0001755 +http://purl.obolibrary.org/obo/GO_0001773 +http://purl.obolibrary.org/obo/GO_0001775 http://purl.obolibrary.org/obo/GO_0001802 +http://purl.obolibrary.org/obo/GO_0001803 +http://purl.obolibrary.org/obo/GO_0001804 +http://purl.obolibrary.org/obo/GO_0001805 http://purl.obolibrary.org/obo/GO_0001806 +http://purl.obolibrary.org/obo/GO_0001807 +http://purl.obolibrary.org/obo/GO_0001808 +http://purl.obolibrary.org/obo/GO_0001809 +http://purl.obolibrary.org/obo/GO_0001810 +http://purl.obolibrary.org/obo/GO_0001811 +http://purl.obolibrary.org/obo/GO_0001812 +http://purl.obolibrary.org/obo/GO_0001816 +http://purl.obolibrary.org/obo/GO_0001817 +http://purl.obolibrary.org/obo/GO_0001818 +http://purl.obolibrary.org/obo/GO_0001819 +http://purl.obolibrary.org/obo/GO_0001820 +http://purl.obolibrary.org/obo/GO_0001821 +http://purl.obolibrary.org/obo/GO_0001838 +http://purl.obolibrary.org/obo/GO_0001841 http://purl.obolibrary.org/obo/GO_0001843 +http://purl.obolibrary.org/obo/GO_0001848 http://purl.obolibrary.org/obo/GO_0001867 +http://purl.obolibrary.org/obo/GO_0001868 +http://purl.obolibrary.org/obo/GO_0001869 +http://purl.obolibrary.org/obo/GO_0001870 http://purl.obolibrary.org/obo/GO_0001887 +http://purl.obolibrary.org/obo/GO_0001894 +http://purl.obolibrary.org/obo/GO_0001906 +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_0001944 +http://purl.obolibrary.org/obo/GO_0001959 +http://purl.obolibrary.org/obo/GO_0001960 +http://purl.obolibrary.org/obo/GO_0001961 http://purl.obolibrary.org/obo/GO_0001964 +http://purl.obolibrary.org/obo/GO_0002009 +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_0002200 +http://purl.obolibrary.org/obo/GO_0002204 +http://purl.obolibrary.org/obo/GO_0002208 +http://purl.obolibrary.org/obo/GO_0002225 +http://purl.obolibrary.org/obo/GO_0002228 +http://purl.obolibrary.org/obo/GO_0002232 +http://purl.obolibrary.org/obo/GO_0002233 +http://purl.obolibrary.org/obo/GO_0002244 +http://purl.obolibrary.org/obo/GO_0002246 http://purl.obolibrary.org/obo/GO_0002250 +http://purl.obolibrary.org/obo/GO_0002252 +http://purl.obolibrary.org/obo/GO_0002253 +http://purl.obolibrary.org/obo/GO_0002262 +http://purl.obolibrary.org/obo/GO_0002263 +http://purl.obolibrary.org/obo/GO_0002269 +http://purl.obolibrary.org/obo/GO_0002274 +http://purl.obolibrary.org/obo/GO_0002275 +http://purl.obolibrary.org/obo/GO_0002277 +http://purl.obolibrary.org/obo/GO_0002279 +http://purl.obolibrary.org/obo/GO_0002281 +http://purl.obolibrary.org/obo/GO_0002284 +http://purl.obolibrary.org/obo/GO_0002285 +http://purl.obolibrary.org/obo/GO_0002286 +http://purl.obolibrary.org/obo/GO_0002292 +http://purl.obolibrary.org/obo/GO_0002312 +http://purl.obolibrary.org/obo/GO_0002313 +http://purl.obolibrary.org/obo/GO_0002335 +http://purl.obolibrary.org/obo/GO_0002339 +http://purl.obolibrary.org/obo/GO_0002343 +http://purl.obolibrary.org/obo/GO_0002344 +http://purl.obolibrary.org/obo/GO_0002349 +http://purl.obolibrary.org/obo/GO_0002351 +http://purl.obolibrary.org/obo/GO_0002366 +http://purl.obolibrary.org/obo/GO_0002367 http://purl.obolibrary.org/obo/GO_0002376 +http://purl.obolibrary.org/obo/GO_0002377 +http://purl.obolibrary.org/obo/GO_0002381 +http://purl.obolibrary.org/obo/GO_0002429 +http://purl.obolibrary.org/obo/GO_0002430 +http://purl.obolibrary.org/obo/GO_0002433 +http://purl.obolibrary.org/obo/GO_0002437 +http://purl.obolibrary.org/obo/GO_0002438 +http://purl.obolibrary.org/obo/GO_0002440 +http://purl.obolibrary.org/obo/GO_0002441 +http://purl.obolibrary.org/obo/GO_0002442 +http://purl.obolibrary.org/obo/GO_0002443 +http://purl.obolibrary.org/obo/GO_0002444 http://purl.obolibrary.org/obo/GO_0002445 +http://purl.obolibrary.org/obo/GO_0002449 +http://purl.obolibrary.org/obo/GO_0002456 +http://purl.obolibrary.org/obo/GO_0002460 +http://purl.obolibrary.org/obo/GO_0002461 +http://purl.obolibrary.org/obo/GO_0002465 +http://purl.obolibrary.org/obo/GO_0002504 +http://purl.obolibrary.org/obo/GO_0002507 +http://purl.obolibrary.org/obo/GO_0002520 +http://purl.obolibrary.org/obo/GO_0002521 +http://purl.obolibrary.org/obo/GO_0002522 +http://purl.obolibrary.org/obo/GO_0002523 http://purl.obolibrary.org/obo/GO_0002524 +http://purl.obolibrary.org/obo/GO_0002526 +http://purl.obolibrary.org/obo/GO_0002532 +http://purl.obolibrary.org/obo/GO_0002534 +http://purl.obolibrary.org/obo/GO_0002538 +http://purl.obolibrary.org/obo/GO_0002539 +http://purl.obolibrary.org/obo/GO_0002562 +http://purl.obolibrary.org/obo/GO_0002573 +http://purl.obolibrary.org/obo/GO_0002574 +http://purl.obolibrary.org/obo/GO_0002577 +http://purl.obolibrary.org/obo/GO_0002578 +http://purl.obolibrary.org/obo/GO_0002579 +http://purl.obolibrary.org/obo/GO_0002580 +http://purl.obolibrary.org/obo/GO_0002581 +http://purl.obolibrary.org/obo/GO_0002582 +http://purl.obolibrary.org/obo/GO_0002637 +http://purl.obolibrary.org/obo/GO_0002638 +http://purl.obolibrary.org/obo/GO_0002639 +http://purl.obolibrary.org/obo/GO_0002643 +http://purl.obolibrary.org/obo/GO_0002644 +http://purl.obolibrary.org/obo/GO_0002645 +http://purl.obolibrary.org/obo/GO_0002652 +http://purl.obolibrary.org/obo/GO_0002653 +http://purl.obolibrary.org/obo/GO_0002654 +http://purl.obolibrary.org/obo/GO_0002658 +http://purl.obolibrary.org/obo/GO_0002659 +http://purl.obolibrary.org/obo/GO_0002660 +http://purl.obolibrary.org/obo/GO_0002673 +http://purl.obolibrary.org/obo/GO_0002674 +http://purl.obolibrary.org/obo/GO_0002675 +http://purl.obolibrary.org/obo/GO_0002682 +http://purl.obolibrary.org/obo/GO_0002683 +http://purl.obolibrary.org/obo/GO_0002684 +http://purl.obolibrary.org/obo/GO_0002685 +http://purl.obolibrary.org/obo/GO_0002686 +http://purl.obolibrary.org/obo/GO_0002687 +http://purl.obolibrary.org/obo/GO_0002688 +http://purl.obolibrary.org/obo/GO_0002689 +http://purl.obolibrary.org/obo/GO_0002690 +http://purl.obolibrary.org/obo/GO_0002694 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+http://purl.obolibrary.org/obo/GO_0002718 +http://purl.obolibrary.org/obo/GO_0002719 +http://purl.obolibrary.org/obo/GO_0002720 +http://purl.obolibrary.org/obo/GO_0002757 +http://purl.obolibrary.org/obo/GO_0002759 +http://purl.obolibrary.org/obo/GO_0002760 +http://purl.obolibrary.org/obo/GO_0002761 +http://purl.obolibrary.org/obo/GO_0002762 +http://purl.obolibrary.org/obo/GO_0002763 +http://purl.obolibrary.org/obo/GO_0002764 +http://purl.obolibrary.org/obo/GO_0002768 +http://purl.obolibrary.org/obo/GO_0002775 +http://purl.obolibrary.org/obo/GO_0002776 +http://purl.obolibrary.org/obo/GO_0002784 +http://purl.obolibrary.org/obo/GO_0002785 +http://purl.obolibrary.org/obo/GO_0002790 +http://purl.obolibrary.org/obo/GO_0002791 +http://purl.obolibrary.org/obo/GO_0002792 +http://purl.obolibrary.org/obo/GO_0002793 +http://purl.obolibrary.org/obo/GO_0002794 +http://purl.obolibrary.org/obo/GO_0002795 +http://purl.obolibrary.org/obo/GO_0002796 +http://purl.obolibrary.org/obo/GO_0002818 +http://purl.obolibrary.org/obo/GO_0002819 +http://purl.obolibrary.org/obo/GO_0002820 +http://purl.obolibrary.org/obo/GO_0002821 +http://purl.obolibrary.org/obo/GO_0002822 +http://purl.obolibrary.org/obo/GO_0002823 +http://purl.obolibrary.org/obo/GO_0002824 +http://purl.obolibrary.org/obo/GO_0002825 +http://purl.obolibrary.org/obo/GO_0002826 +http://purl.obolibrary.org/obo/GO_0002827 +http://purl.obolibrary.org/obo/GO_0002828 +http://purl.obolibrary.org/obo/GO_0002829 +http://purl.obolibrary.org/obo/GO_0002830 +http://purl.obolibrary.org/obo/GO_0002831 +http://purl.obolibrary.org/obo/GO_0002832 +http://purl.obolibrary.org/obo/GO_0002833 +http://purl.obolibrary.org/obo/GO_0002861 +http://purl.obolibrary.org/obo/GO_0002862 +http://purl.obolibrary.org/obo/GO_0002863 +http://purl.obolibrary.org/obo/GO_0002864 +http://purl.obolibrary.org/obo/GO_0002865 +http://purl.obolibrary.org/obo/GO_0002866 +http://purl.obolibrary.org/obo/GO_0002883 +http://purl.obolibrary.org/obo/GO_0002884 +http://purl.obolibrary.org/obo/GO_0002885 +http://purl.obolibrary.org/obo/GO_0002886 +http://purl.obolibrary.org/obo/GO_0002887 +http://purl.obolibrary.org/obo/GO_0002888 +http://purl.obolibrary.org/obo/GO_0002889 +http://purl.obolibrary.org/obo/GO_0002890 +http://purl.obolibrary.org/obo/GO_0002891 +http://purl.obolibrary.org/obo/GO_0002892 +http://purl.obolibrary.org/obo/GO_0002893 +http://purl.obolibrary.org/obo/GO_0002894 +http://purl.obolibrary.org/obo/GO_0002920 +http://purl.obolibrary.org/obo/GO_0002921 +http://purl.obolibrary.org/obo/GO_0002922 +http://purl.obolibrary.org/obo/GO_0003006 +http://purl.obolibrary.org/obo/GO_0003008 +http://purl.obolibrary.org/obo/GO_0003013 +http://purl.obolibrary.org/obo/GO_0003014 +http://purl.obolibrary.org/obo/GO_0003015 +http://purl.obolibrary.org/obo/GO_0003016 +http://purl.obolibrary.org/obo/GO_0003018 +http://purl.obolibrary.org/obo/GO_0003330 +http://purl.obolibrary.org/obo/GO_0003331 +http://purl.obolibrary.org/obo/GO_0003332 +http://purl.obolibrary.org/obo/GO_0003411 http://purl.obolibrary.org/obo/GO_0003674 +http://purl.obolibrary.org/obo/GO_0003676 +http://purl.obolibrary.org/obo/GO_0003677 +http://purl.obolibrary.org/obo/GO_0003700 +http://purl.obolibrary.org/obo/GO_0003707 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_0003867 +http://purl.obolibrary.org/obo/GO_0003872 +http://purl.obolibrary.org/obo/GO_0003940 http://purl.obolibrary.org/obo/GO_0003943 +http://purl.obolibrary.org/obo/GO_0003995 http://purl.obolibrary.org/obo/GO_0004000 http://purl.obolibrary.org/obo/GO_0004029 http://purl.obolibrary.org/obo/GO_0004046 http://purl.obolibrary.org/obo/GO_0004092 +http://purl.obolibrary.org/obo/GO_0004175 http://purl.obolibrary.org/obo/GO_0004252 +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_0004347 +http://purl.obolibrary.org/obo/GO_0004348 http://purl.obolibrary.org/obo/GO_0004351 http://purl.obolibrary.org/obo/GO_0004357 http://purl.obolibrary.org/obo/GO_0004363 @@ -36,258 +309,2678 @@ http://purl.obolibrary.org/obo/GO_0004423 http://purl.obolibrary.org/obo/GO_0004457 http://purl.obolibrary.org/obo/GO_0004466 http://purl.obolibrary.org/obo/GO_0004485 +http://purl.obolibrary.org/obo/GO_0004497 http://purl.obolibrary.org/obo/GO_0004509 +http://purl.obolibrary.org/obo/GO_0004553 +http://purl.obolibrary.org/obo/GO_0004557 +http://purl.obolibrary.org/obo/GO_0004561 +http://purl.obolibrary.org/obo/GO_0004563 http://purl.obolibrary.org/obo/GO_0004565 http://purl.obolibrary.org/obo/GO_0004566 +http://purl.obolibrary.org/obo/GO_0004601 http://purl.obolibrary.org/obo/GO_0004602 +http://purl.obolibrary.org/obo/GO_0004614 +http://purl.obolibrary.org/obo/GO_0004618 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+ + + + + + RBP3 + + + + + + + + + RBP4 + + + + + + + + + OPN1LW + + + + + + + + + RDH5 + + + + + + + + + PRPH2 + + + + + + + + + RDX + + + + + + + + + RECQL4 + + + + + + + + + RELN + + + + + + + + + REN + + + + + + + + + RERE + + + + + + + + + REST + + + + + + + + + RET + + + + + + + + + RFX5 + + + + + + + + + RFXANK + + + + + + + + + RFXAP + + + + + + + + + RGR + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/imports/hp_import.obo b/src/ontology/imports/hp_import.obo index 404d3794d9..dcb79a012f 100644 --- a/src/ontology/imports/hp_import.obo +++ b/src/ontology/imports/hp_import.obo @@ -1,6 +1,5 @@ format-version: 1.2 ontology: mondo/imports/hp_import -owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(AnnotationProperty())\n\n\nAnnotationAssertion( \"\")\n) [Term] id: HP:0000001 @@ -4918,6 +4917,25 @@ xref: UMLS:C0002871 xref: UMLS:C0162119 is_a: HP:0001877 ! Abnormal erythrocyte morphology +[Term] +id: HP:0001909 +name: Leukemia +namespace: human_phenotype +alt_id: HP:0005519 +alt_id: HP:0006726 +def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:probinson] +synonym: "Blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] +xref: MSH:D007938 +xref: MSH:D019337 +xref: SNOMEDCT_US:129154003 +xref: SNOMEDCT_US:269475001 +xref: SNOMEDCT_US:87163000 +xref: SNOMEDCT_US:93143009 +xref: UMLS:C0023418 +xref: UMLS:C0376545 +is_a: HP:0001881 ! Abnormal leukocyte morphology +is_a: HP:0004377 ! Hematological neoplasm + [Term] id: HP:0001911 name: Abnormal granulocyte morphology @@ -8687,6 +8705,21 @@ namespace: human_phenotype xref: UMLS:C1855889 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa +[Term] +id: HP:0005506 +name: Chronic myelogenous leukemia +namespace: human_phenotype +alt_id: HP:0005544 +def: "A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." [HPO:probinson] +synonym: "Chronic myelocytic leukemia" EXACT [] +synonym: "Chronic myeloid leukemia" EXACT [] +xref: DOID:8552 "chronic myeloid leukemia" +xref: MSH:D015464 +xref: SNOMEDCT_US:63364005 +xref: SNOMEDCT_US:92818009 +xref: UMLS:C0023473 +is_a: HP:0005558 ! Chronic leukemia + [Term] id: HP:0005508 name: Monoclonal immunoglobulin M proteinemia @@ -8725,6 +8758,20 @@ xref: SNOMEDCT_US:89655007 xref: UMLS:C1853118 is_a: HP:0012234 ! Agranulocytosis +[Term] +id: HP:0005558 +name: Chronic leukemia +namespace: human_phenotype +def: "A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia." [NCIT:C3483] +synonym: "Chronic blood cancer" BROAD layperson [ORCID:0000-0001-5208-3432] +xref: SNOMEDCT_US:128933000 +xref: SNOMEDCT_US:92812005 +xref: UMLS:C1279296 +xref: UMLS:C4280478 +is_a: HP:0001909 ! Leukemia +created_by: peter +creation_date: 2008-03-27T10:32:00Z + [Term] id: HP:0005561 name: Abnormality of bone marrow cell morphology diff --git a/src/ontology/imports/hp_import.owl b/src/ontology/imports/hp_import.owl index c2eec1f763..8d40415266 100644 --- a/src/ontology/imports/hp_import.owl +++ b/src/ontology/imports/hp_import.owl @@ -12689,6 +12689,43 @@ + + + + + + A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. + HP:0005519 + HP:0006726 + Blood cancer + MSH:D007938 + MSH:D019337 + SNOMEDCT_US:129154003 + SNOMEDCT_US:269475001 + SNOMEDCT_US:87163000 + SNOMEDCT_US:93143009 + UMLS:C0023418 + UMLS:C0376545 + human_phenotype + HP:0001909 + Leukemia + + + + + A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. + HPO:probinson + + + + + Blood cancer + ORCID:0000-0001-5208-3432 + + + + + @@ -21271,6 +21308,38 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h + + + + + A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. + HP:0005544 + DOID:8552 + MSH:D015464 + SNOMEDCT_US:63364005 + SNOMEDCT_US:92818009 + UMLS:C0023473 + Chronic myelocytic leukemia + Chronic myeloid leukemia + human_phenotype + HP:0005506 + Chronic myelogenous leukemia + + + + + A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. + HPO:probinson + + + + + DOID:8552 + chronic myeloid leukemia + + + + @@ -21343,6 +21412,38 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h + + + + + A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. + peter + 2008-03-27T10:32:00Z + Chronic blood cancer + SNOMEDCT_US:128933000 + SNOMEDCT_US:92812005 + UMLS:C1279296 + UMLS:C4280478 + human_phenotype + HP:0005558 + Chronic leukemia + + + + + A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. + NCIT:C3483 + + + + + Chronic blood cancer + ORCID:0000-0001-5208-3432 + + + + + diff --git a/src/ontology/imports/hp_terms.txt b/src/ontology/imports/hp_terms.txt index 030df92799..746dc1f8fd 100644 --- a/src/ontology/imports/hp_terms.txt +++ b/src/ontology/imports/hp_terms.txt @@ -1,91 +1,185 @@ +http://purl.obolibrary.org/obo/HP_0000001 +http://purl.obolibrary.org/obo/HP_0000002 +http://purl.obolibrary.org/obo/HP_0000005 http://purl.obolibrary.org/obo/HP_0000006 http://purl.obolibrary.org/obo/HP_0000007 +http://purl.obolibrary.org/obo/HP_0000008 +http://purl.obolibrary.org/obo/HP_0000009 http://purl.obolibrary.org/obo/HP_0000011 +http://purl.obolibrary.org/obo/HP_0000014 +http://purl.obolibrary.org/obo/HP_0000022 +http://purl.obolibrary.org/obo/HP_0000025 http://purl.obolibrary.org/obo/HP_0000027 http://purl.obolibrary.org/obo/HP_0000031 +http://purl.obolibrary.org/obo/HP_0000032 +http://purl.obolibrary.org/obo/HP_0000035 +http://purl.obolibrary.org/obo/HP_0000036 http://purl.obolibrary.org/obo/HP_0000037 http://purl.obolibrary.org/obo/HP_0000044 +http://purl.obolibrary.org/obo/HP_0000050 +http://purl.obolibrary.org/obo/HP_0000069 +http://purl.obolibrary.org/obo/HP_0000071 http://purl.obolibrary.org/obo/HP_0000074 +http://purl.obolibrary.org/obo/HP_0000077 +http://purl.obolibrary.org/obo/HP_0000078 +http://purl.obolibrary.org/obo/HP_0000079 +http://purl.obolibrary.org/obo/HP_0000080 http://purl.obolibrary.org/obo/HP_0000083 http://purl.obolibrary.org/obo/HP_0000090 http://purl.obolibrary.org/obo/HP_0000093 +http://purl.obolibrary.org/obo/HP_0000095 http://purl.obolibrary.org/obo/HP_0000096 +http://purl.obolibrary.org/obo/HP_0000098 http://purl.obolibrary.org/obo/HP_0000099 http://purl.obolibrary.org/obo/HP_0000107 http://purl.obolibrary.org/obo/HP_0000112 http://purl.obolibrary.org/obo/HP_0000113 +http://purl.obolibrary.org/obo/HP_0000118 +http://purl.obolibrary.org/obo/HP_0000119 +http://purl.obolibrary.org/obo/HP_0000123 http://purl.obolibrary.org/obo/HP_0000132 http://purl.obolibrary.org/obo/HP_0000133 +http://purl.obolibrary.org/obo/HP_0000135 +http://purl.obolibrary.org/obo/HP_0000140 +http://purl.obolibrary.org/obo/HP_0000142 +http://purl.obolibrary.org/obo/HP_0000144 +http://purl.obolibrary.org/obo/HP_0000152 +http://purl.obolibrary.org/obo/HP_0000153 +http://purl.obolibrary.org/obo/HP_0000157 +http://purl.obolibrary.org/obo/HP_0000159 +http://purl.obolibrary.org/obo/HP_0000163 +http://purl.obolibrary.org/obo/HP_0000164 +http://purl.obolibrary.org/obo/HP_0000168 +http://purl.obolibrary.org/obo/HP_0000174 http://purl.obolibrary.org/obo/HP_0000175 +http://purl.obolibrary.org/obo/HP_0000177 http://purl.obolibrary.org/obo/HP_0000201 +http://purl.obolibrary.org/obo/HP_0000202 http://purl.obolibrary.org/obo/HP_0000219 http://purl.obolibrary.org/obo/HP_0000230 +http://purl.obolibrary.org/obo/HP_0000233 +http://purl.obolibrary.org/obo/HP_0000234 http://purl.obolibrary.org/obo/HP_0000238 +http://purl.obolibrary.org/obo/HP_0000240 http://purl.obolibrary.org/obo/HP_0000252 http://purl.obolibrary.org/obo/HP_0000271 http://purl.obolibrary.org/obo/HP_0000272 +http://purl.obolibrary.org/obo/HP_0000274 http://purl.obolibrary.org/obo/HP_0000275 +http://purl.obolibrary.org/obo/HP_0000277 http://purl.obolibrary.org/obo/HP_0000278 http://purl.obolibrary.org/obo/HP_0000286 +http://purl.obolibrary.org/obo/HP_0000290 http://purl.obolibrary.org/obo/HP_0000297 +http://purl.obolibrary.org/obo/HP_0000301 +http://purl.obolibrary.org/obo/HP_0000309 +http://purl.obolibrary.org/obo/HP_0000315 http://purl.obolibrary.org/obo/HP_0000347 +http://purl.obolibrary.org/obo/HP_0000359 http://purl.obolibrary.org/obo/HP_0000360 +http://purl.obolibrary.org/obo/HP_0000364 http://purl.obolibrary.org/obo/HP_0000365 +http://purl.obolibrary.org/obo/HP_0000366 +http://purl.obolibrary.org/obo/HP_0000370 http://purl.obolibrary.org/obo/HP_0000405 http://purl.obolibrary.org/obo/HP_0000407 http://purl.obolibrary.org/obo/HP_0000421 +http://purl.obolibrary.org/obo/HP_0000478 +http://purl.obolibrary.org/obo/HP_0000479 +http://purl.obolibrary.org/obo/HP_0000481 http://purl.obolibrary.org/obo/HP_0000486 http://purl.obolibrary.org/obo/HP_0000491 http://purl.obolibrary.org/obo/HP_0000492 +http://purl.obolibrary.org/obo/HP_0000496 http://purl.obolibrary.org/obo/HP_0000501 +http://purl.obolibrary.org/obo/HP_0000502 +http://purl.obolibrary.org/obo/HP_0000504 +http://purl.obolibrary.org/obo/HP_0000505 http://purl.obolibrary.org/obo/HP_0000508 http://purl.obolibrary.org/obo/HP_0000509 +http://purl.obolibrary.org/obo/HP_0000517 http://purl.obolibrary.org/obo/HP_0000518 http://purl.obolibrary.org/obo/HP_0000520 http://purl.obolibrary.org/obo/HP_0000522 +http://purl.obolibrary.org/obo/HP_0000525 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http://purl.obolibrary.org/obo/HP_0031097 +http://purl.obolibrary.org/obo/HP_0031137 http://purl.obolibrary.org/obo/HP_0031247 http://purl.obolibrary.org/obo/HP_0031258 +http://purl.obolibrary.org/obo/HP_0031263 http://purl.obolibrary.org/obo/HP_0031348 +http://purl.obolibrary.org/obo/HP_0031365 +http://purl.obolibrary.org/obo/HP_0031466 +http://purl.obolibrary.org/obo/HP_0031481 +http://purl.obolibrary.org/obo/HP_0031650 +http://purl.obolibrary.org/obo/HP_0031652 +http://purl.obolibrary.org/obo/HP_0031653 +http://purl.obolibrary.org/obo/HP_0031690 +http://purl.obolibrary.org/obo/HP_0031703 +http://purl.obolibrary.org/obo/HP_0031704 +http://purl.obolibrary.org/obo/HP_0031797 +http://purl.obolibrary.org/obo/HP_0031816 +http://purl.obolibrary.org/obo/HP_0031899 +http://purl.obolibrary.org/obo/HP_0040006 http://purl.obolibrary.org/obo/HP_0040064 +http://purl.obolibrary.org/obo/HP_0040066 +http://purl.obolibrary.org/obo/HP_0040068 +http://purl.obolibrary.org/obo/HP_0040069 +http://purl.obolibrary.org/obo/HP_0040075 +http://purl.obolibrary.org/obo/HP_0040077 +http://purl.obolibrary.org/obo/HP_0040084 +http://purl.obolibrary.org/obo/HP_0040126 +http://purl.obolibrary.org/obo/HP_0040195 +http://purl.obolibrary.org/obo/HP_0040202 +http://purl.obolibrary.org/obo/HP_0040211 +http://purl.obolibrary.org/obo/HP_0040214 +http://purl.obolibrary.org/obo/HP_0040215 +http://purl.obolibrary.org/obo/HP_0040290 +http://purl.obolibrary.org/obo/HP_0045005 http://purl.obolibrary.org/obo/HP_0045014 +http://purl.obolibrary.org/obo/HP_0045058 http://purl.obolibrary.org/obo/HP_0045084 +http://purl.obolibrary.org/obo/HP_0100000 http://purl.obolibrary.org/obo/HP_0100022 +http://purl.obolibrary.org/obo/HP_0100033 http://purl.obolibrary.org/obo/HP_0100034 http://purl.obolibrary.org/obo/HP_0100035 +http://purl.obolibrary.org/obo/HP_0100037 http://purl.obolibrary.org/obo/HP_0100247 http://purl.obolibrary.org/obo/HP_0100255 http://purl.obolibrary.org/obo/HP_0100257 +http://purl.obolibrary.org/obo/HP_0100261 http://purl.obolibrary.org/obo/HP_0100267 +http://purl.obolibrary.org/obo/HP_0100276 +http://purl.obolibrary.org/obo/HP_0100299 +http://purl.obolibrary.org/obo/HP_0100303 http://purl.obolibrary.org/obo/HP_0100306 +http://purl.obolibrary.org/obo/HP_0100314 http://purl.obolibrary.org/obo/HP_0100324 +http://purl.obolibrary.org/obo/HP_0100326 +http://purl.obolibrary.org/obo/HP_0100360 +http://purl.obolibrary.org/obo/HP_0100491 http://purl.obolibrary.org/obo/HP_0100502 +http://purl.obolibrary.org/obo/HP_0100508 +http://purl.obolibrary.org/obo/HP_0100511 http://purl.obolibrary.org/obo/HP_0100512 http://purl.obolibrary.org/obo/HP_0100526 +http://purl.obolibrary.org/obo/HP_0100529 +http://purl.obolibrary.org/obo/HP_0100533 +http://purl.obolibrary.org/obo/HP_0100543 +http://purl.obolibrary.org/obo/HP_0100545 +http://purl.obolibrary.org/obo/HP_0100547 http://purl.obolibrary.org/obo/HP_0100584 http://purl.obolibrary.org/obo/HP_0100598 +http://purl.obolibrary.org/obo/HP_0100606 +http://purl.obolibrary.org/obo/HP_0100639 http://purl.obolibrary.org/obo/HP_0100640 http://purl.obolibrary.org/obo/HP_0100658 +http://purl.obolibrary.org/obo/HP_0100659 http://purl.obolibrary.org/obo/HP_0100699 http://purl.obolibrary.org/obo/HP_0100716 +http://purl.obolibrary.org/obo/HP_0100737 +http://purl.obolibrary.org/obo/HP_0100763 +http://purl.obolibrary.org/obo/HP_0100765 http://purl.obolibrary.org/obo/HP_0100774 http://purl.obolibrary.org/obo/HP_0100786 +http://purl.obolibrary.org/obo/HP_0100799 http://purl.obolibrary.org/obo/HP_0100806 http://purl.obolibrary.org/obo/HP_0100845 +http://purl.obolibrary.org/obo/HP_0100851 +http://purl.obolibrary.org/obo/HP_0100852 +http://purl.obolibrary.org/obo/HP_0100871 +http://purl.obolibrary.org/obo/HP_0100872 +http://purl.obolibrary.org/obo/HP_0100886 +http://purl.obolibrary.org/obo/HP_0100887 +http://purl.obolibrary.org/obo/HP_0100957 http://purl.obolibrary.org/obo/HP_0100963 +http://purl.obolibrary.org/obo/HP_0200000 +http://purl.obolibrary.org/obo/HP_0200036 http://purl.obolibrary.org/obo/HP_0200042 +http://purl.obolibrary.org/obo/HP_0410008 +http://purl.obolibrary.org/obo/HP_0410042 +http://purl.obolibrary.org/obo/HP_0410043 diff --git a/src/ontology/imports/mf_import.obo b/src/ontology/imports/mf_import.obo index 802381ca0c..630d0222e3 100644 --- a/src/ontology/imports/mf_import.obo +++ b/src/ontology/imports/mf_import.obo @@ -1,6 +1,5 @@ format-version: 1.2 ontology: mondo/imports/mf_import -owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\nDeclaration(NamedIndividual())\n\n############################\n# Classes\n############################\n\n# Class: ()\n\nEquivalentClasses( ObjectOneOf( ))\n\n# Class: ()\n\nEquivalentClasses( ObjectOneOf( ))\n\n# Class: ()\n\nEquivalentClasses( ObjectOneOf( ))\n\n# Class: ()\n\nSubClassOf( ObjectSomeValuesFrom( ObjectIntersectionOf( ObjectComplementOf())))\n\n# Class: ()\n\nEquivalentClasses( ObjectSomeValuesFrom( ))\n\n# Class: ()\n\nEquivalentClasses( ObjectOneOf())\n\n\n############################\n# Named Individuals\n############################\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n# Individual: ()\n\n\n\nDifferentIndividuals( )\nDifferentIndividuals( )\n) [Term] id: BFO:0000001 diff --git a/src/ontology/imports/mf_terms.txt b/src/ontology/imports/mf_terms.txt index 87af67bd9c..0621d112d9 100644 --- a/src/ontology/imports/mf_terms.txt +++ b/src/ontology/imports/mf_terms.txt @@ -7,5 +7,10 @@ http://purl.obolibrary.org/obo/MFOMD_0000119 http://purl.obolibrary.org/obo/MFOMD_0000122 http://purl.obolibrary.org/obo/MF_0000008 http://purl.obolibrary.org/obo/MF_0000013 +http://purl.obolibrary.org/obo/MF_0000017 http://purl.obolibrary.org/obo/MF_0000020 +http://purl.obolibrary.org/obo/MF_0000030 +http://purl.obolibrary.org/obo/MF_0000031 +http://purl.obolibrary.org/obo/MF_0000032 +http://purl.obolibrary.org/obo/MF_0000033 http://purl.obolibrary.org/obo/MF_0000061 diff --git a/src/ontology/imports/ncbitaxon_import.obo b/src/ontology/imports/ncbitaxon_import.obo index 7c3c7d00dc..9cdd3f6af5 100644 --- a/src/ontology/imports/ncbitaxon_import.obo +++ b/src/ontology/imports/ncbitaxon_import.obo @@ -1,6 +1,5 @@ format-version: 1.2 ontology: mondo/imports/ncbitaxon_import -owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\nDeclaration(AnnotationProperty())\n\n\nAnnotationAssertion( )\nAnnotationAssertion( \"GC_ID:1\"^^xsd:string)\nAnnotationAssertion( \"ncbi_taxonomy\"^^xsd:string)\nAnnotationAssertion( \"NCBITaxon:11161\"^^xsd:string)\nAnnotationAssertion(rdfs:label \"Mumps virus\"^^xsd:string)\nAnnotationAssertion( )\nAnnotationAssertion( \"GC_ID:11\"^^xsd:string)\nAnnotationAssertion( \"ncbi_taxonomy\"^^xsd:string)\nAnnotationAssertion( \"NCBITaxon:83553\"^^xsd:string)\nAnnotationAssertion(rdfs:label \"Chlamydophila\"^^xsd:string)\n) [Term] id: NCBITaxon:1 @@ -1140,6 +1139,25 @@ synonym: "Feline lentiviruses" RELATED synonym [] xref: GC_ID:1 is_a: NCBITaxon:11646 ! Lentivirus +[Term] +id: NCBITaxon:116704 +name: Eubrachyura +namespace: ncbi_taxonomy +alt_id: NCBITaxon:6795 +xref: GC_ID:1 +is_a: NCBITaxon:6752 ! Brachyura + +[Term] +id: NCBITaxon:116706 +name: Heterotremata +namespace: ncbi_taxonomy +alt_id: NCBITaxon:29963 +alt_id: NCBITaxon:6773 +alt_id: NCBITaxon:6803 +synonym: "Brachyrhyncha" RELATED in_part [] +xref: GC_ID:1 +is_a: NCBITaxon:116704 ! Eubrachyura + [Term] id: NCBITaxon:11673 name: Feline immunodeficiency virus @@ -2151,6 +2169,15 @@ xref: GC_ID:1 is_a: NCBITaxon:6685 ! Penaeidae property_value: has_rank NCBITaxon:genus +[Term] +id: NCBITaxon:133898 +name: Fenneropenaeus +namespace: ncbi_taxonomy +synonym: "Feneropenaeus" RELATED misspelling [] +xref: GC_ID:1 +is_a: NCBITaxon:6685 ! Penaeidae +property_value: has_rank NCBITaxon:genus + [Term] id: NCBITaxon:134362 name: Capnodiales @@ -4187,6 +4214,15 @@ synonym: "Diplomonadida group" RELATED synonym [] xref: GC_ID:1 is_a: NCBITaxon:2759 ! Eukaryota +[Term] +id: NCBITaxon:207598 +name: Homininae +namespace: ncbi_taxonomy +synonym: "Homo/Pan/Gorilla group" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:9604 ! Hominidae +property_value: has_rank NCBITaxon:subfamily + [Term] id: NCBITaxon:2085 name: Mycoplasmatales @@ -5006,6 +5042,17 @@ xref: GC_ID:1 is_a: NCBITaxon:279271 ! Leptotrombidium property_value: has_rank NCBITaxon:species +[Term] +id: NCBITaxon:29960 +name: Fenneropenaeus indicus +namespace: ncbi_taxonomy +synonym: "Feneropenaeus indicus" RELATED misspelling [] +synonym: "Penaeus (Fenneropenaeus) indicus" RELATED synonym [] +synonym: "Penaeus indicus" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:133898 ! Fenneropenaeus +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:30005 name: Anoplura @@ -5093,6 +5140,25 @@ xref: PMID:12082125 xref: PMID:15522813 is_a: NCBITaxon:314146 ! Euarchontoglires +[Term] +id: NCBITaxon:314293 +name: Simiiformes +namespace: ncbi_taxonomy +synonym: "Anthropoidea" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:376913 ! Haplorrhini +property_value: has_rank NCBITaxon:infraorder + +[Term] +id: NCBITaxon:314295 +name: Hominoidea +namespace: ncbi_taxonomy +synonym: "ape" EXACT common_name [] +synonym: "apes" EXACT genbank_common_name [] +xref: GC_ID:1 +is_a: NCBITaxon:9526 ! Catarrhini +property_value: has_rank NCBITaxon:superfamily + [Term] id: NCBITaxon:31604 name: Small ruminant morbillivirus @@ -6156,6 +6222,15 @@ xref: GC_ID:1 is_a: NCBITaxon:91835 ! fabids property_value: has_rank NCBITaxon:order +[Term] +id: NCBITaxon:374468 +name: Nakaseomyces +namespace: ncbi_taxonomy +xref: GC_ID:1 +xref: PMID:14654427 +is_a: NCBITaxon:4893 ! Saccharomycetaceae +property_value: has_rank NCBITaxon:genus + [Term] id: NCBITaxon:3745 name: Rosaceae @@ -6233,6 +6308,14 @@ xref: GC_ID:1 is_a: NCBITaxon:3754 ! Prunus property_value: has_rank NCBITaxon:species +[Term] +id: NCBITaxon:376913 +name: Haplorrhini +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:9443 ! Primates +property_value: has_rank NCBITaxon:suborder + [Term] id: NCBITaxon:37727 name: Talaromyces marneffei @@ -7576,6 +7659,16 @@ xref: GC_ID:1 is_a: NCBITaxon:4891 ! Saccharomycetes property_value: has_rank NCBITaxon:order +[Term] +id: NCBITaxon:4893 +name: Saccharomycetaceae +namespace: ncbi_taxonomy +alt_id: NCBITaxon:221665 +alt_id: NCBITaxon:44280 +xref: GC_ID:1 +is_a: NCBITaxon:4892 ! Saccharomycetales +property_value: has_rank NCBITaxon:family + [Term] id: NCBITaxon:49202 name: Dermacentor marginatus @@ -8118,6 +8211,18 @@ xref: PMID:26654112 is_a: NCBITaxon:1783272 ! Terrabacteria group property_value: has_rank NCBITaxon:phylum +[Term] +id: NCBITaxon:5478 +name: [Candida] glabrata +namespace: ncbi_taxonomy +synonym: "Candida glabrata" RELATED genbank_synonym [] +synonym: "Cryptococcus glabratus" RELATED synonym [] +synonym: "Torulopsis glabrata" RELATED synonym [] +xref: GC_ID:1 +xref: PMID:14654427 +is_a: NCBITaxon:600669 ! Nakaseomyces/Candida clade +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:548681 name: Herpesvirales @@ -8889,6 +8994,13 @@ xref: GC_ID:1 is_a: NCBITaxon:431838 ! Intramacronucleata property_value: has_rank NCBITaxon:class +[Term] +id: NCBITaxon:600669 +name: Nakaseomyces/Candida clade +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:374468 ! Nakaseomyces + [Term] id: NCBITaxon:6029 name: Microsporidia @@ -9893,6 +10005,25 @@ xref: GC_ID:1 is_a: NCBITaxon:133894 ! Penaeus property_value: has_rank NCBITaxon:species +[Term] +id: NCBITaxon:6690 +name: Farfantepenaeus aztecus +namespace: ncbi_taxonomy +synonym: "brown shrimp" EXACT genbank_common_name [] +synonym: "Penaeus (Farfantepenaeus) aztecus" RELATED synonym [] +synonym: "Penaeus aztecus" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:85653 ! Farfantepenaeus +property_value: has_rank NCBITaxon:species + +[Term] +id: NCBITaxon:6692 +name: Pleocyemata +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:6683 ! Decapoda +property_value: has_rank NCBITaxon:suborder + [Term] id: NCBITaxon:672 name: Vibrio vulnificus @@ -9904,6 +10035,43 @@ xref: PMID:8186099 is_a: NCBITaxon:662 ! Vibrio property_value: has_rank NCBITaxon:species +[Term] +id: NCBITaxon:6752 +name: Brachyura +namespace: ncbi_taxonomy +synonym: "short-tailed crabs" EXACT genbank_common_name [] +synonym: "true crabs" EXACT common_name [] +xref: GC_ID:1 +is_a: NCBITaxon:6692 ! Pleocyemata +property_value: has_rank NCBITaxon:infraorder + +[Term] +id: NCBITaxon:6757 +name: Portunidae +namespace: ncbi_taxonomy +synonym: "swimming crabs" EXACT genbank_common_name [] +xref: GC_ID:1 +is_a: NCBITaxon:6774 ! Portunoidea +property_value: has_rank NCBITaxon:family + +[Term] +id: NCBITaxon:6760 +name: Scylla +namespace: ncbi_taxonomy +synonym: "mangrove crabs" EXACT genbank_common_name [] +synonym: "mud crabs" EXACT common_name [] +xref: GC_ID:1 +is_a: NCBITaxon:6757 ! Portunidae +property_value: has_rank NCBITaxon:genus + +[Term] +id: NCBITaxon:6774 +name: Portunoidea +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:116706 ! Heterotremata +property_value: has_rank NCBITaxon:superfamily + [Term] id: NCBITaxon:68336 name: Bacteroidetes/Chlorobi group @@ -11415,6 +11583,15 @@ namespace: ncbi_taxonomy xref: GC_ID:1 is_a: NCBITaxon:50557 ! Insecta +[Term] +id: NCBITaxon:85552 +name: Scylla paramamosain +namespace: ncbi_taxonomy +synonym: "green mud crab" EXACT genbank_common_name [] +xref: GC_ID:1 +is_a: NCBITaxon:6760 ! Scylla +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:85604 name: Amphiesmenoptera @@ -11422,6 +11599,14 @@ namespace: ncbi_taxonomy xref: GC_ID:1 is_a: NCBITaxon:33392 ! Holometabola +[Term] +id: NCBITaxon:85653 +name: Farfantepenaeus +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:6685 ! Penaeidae +property_value: has_rank NCBITaxon:genus + [Term] id: NCBITaxon:85819 name: Phthiraptera @@ -11674,6 +11859,17 @@ xref: PMID:11760958 is_a: NCBITaxon:942 ! Anaplasmataceae property_value: has_rank NCBITaxon:genus +[Term] +id: NCBITaxon:9443 +name: Primates +namespace: ncbi_taxonomy +synonym: "Primata" RELATED synonym [] +synonym: "primate" EXACT equivalent_name [] +synonym: "primates" RELATED blast_name [] +xref: GC_ID:1 +is_a: NCBITaxon:314146 ! Euarchontoglires +property_value: has_rank NCBITaxon:order + [Term] id: NCBITaxon:945 name: Ehrlichia chaffeensis @@ -11724,6 +11920,43 @@ xref: PMID:1736961 is_a: NCBITaxon:33993 ! Neorickettsia property_value: has_rank NCBITaxon:species +[Term] +id: NCBITaxon:9526 +name: Catarrhini +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:314293 ! Simiiformes +property_value: has_rank NCBITaxon:parvorder + +[Term] +id: NCBITaxon:9604 +name: Hominidae +namespace: ncbi_taxonomy +synonym: "great apes" EXACT genbank_common_name [] +synonym: "Pongidae" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:314295 ! Hominoidea +property_value: has_rank NCBITaxon:family + +[Term] +id: NCBITaxon:9605 +name: Homo +namespace: ncbi_taxonomy +synonym: "humans" EXACT common_name [] +xref: GC_ID:1 +is_a: NCBITaxon:207598 ! Homininae +property_value: has_rank NCBITaxon:genus + +[Term] +id: NCBITaxon:9606 +name: Homo sapiens +namespace: ncbi_taxonomy +synonym: "human" EXACT genbank_common_name [] +synonym: "man" EXACT common_name [] +xref: GC_ID:1 +is_a: NCBITaxon:9605 ! Homo +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:967 name: Spirillum @@ -11769,6 +12002,37 @@ xref: GC_ID:1 is_a: NCBITaxon:35500 ! Pecora property_value: has_rank NCBITaxon:family +[Term] +id: NCBITaxon:9922 +name: Capra +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:9963 ! Caprinae +property_value: has_rank NCBITaxon:genus + +[Term] +id: NCBITaxon:9925 +name: Capra hircus +namespace: ncbi_taxonomy +alt_id: NCBITaxon:57076 +synonym: "Capra aegagrus hircus" RELATED synonym [] +synonym: "Carpa hircus" RELATED misspelling [] +synonym: "domestic goat" EXACT common_name [] +synonym: "goat" EXACT genbank_common_name [] +synonym: "goats" EXACT common_name [] +synonym: "South African angora goat" RELATED misspelling [] +xref: GC_ID:1 +is_a: NCBITaxon:9922 ! Capra +property_value: has_rank NCBITaxon:species + +[Term] +id: NCBITaxon:9963 +name: Caprinae +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:9895 ! Bovidae +property_value: has_rank NCBITaxon:subfamily + [Term] id: NCBITaxon:9989 name: Rodentia diff --git a/src/ontology/imports/ncbitaxon_import.owl b/src/ontology/imports/ncbitaxon_import.owl index 091fcc4562..66cb33bee8 100644 --- a/src/ontology/imports/ncbitaxon_import.owl +++ b/src/ontology/imports/ncbitaxon_import.owl @@ -3018,6 +3018,41 @@ + + + + + NCBITaxon:6795 + GC_ID:1 + ncbi_taxonomy + NCBITaxon:116704 + Eubrachyura + + + + + + + + + NCBITaxon:29963 + NCBITaxon:6773 + NCBITaxon:6803 + GC_ID:1 + ncbi_taxonomy + Brachyrhyncha + NCBITaxon:116706 + Heterotremata + + + + + Brachyrhyncha + + + + + @@ -5732,6 +5767,26 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + Feneropenaeus + NCBITaxon:133898 + Fenneropenaeus + + + + + Feneropenaeus + + + + + @@ -10060,6 +10115,26 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + Homo/Pan/Gorilla group + NCBITaxon:207598 + Homininae + + + + + Homo/Pan/Gorilla group + + + + + @@ -12063,6 +12138,40 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + Feneropenaeus indicus + Penaeus (Fenneropenaeus) indicus + Penaeus indicus + NCBITaxon:29960 + Fenneropenaeus indicus + + + + + Feneropenaeus indicus + + + + + + Penaeus (Fenneropenaeus) indicus + + + + + + Penaeus indicus + + + + + @@ -12225,6 +12334,53 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + Anthropoidea + NCBITaxon:314293 + Simiiformes + + + + + Anthropoidea + + + + + + + + + + + GC_ID:1 + ape + apes + ncbi_taxonomy + NCBITaxon:314295 + Hominoidea + + + + + ape + + + + + + apes + + + + + @@ -14581,6 +14737,20 @@ + + + + + + GC_ID:1 + PMID:14654427 + ncbi_taxonomy + NCBITaxon:374468 + Nakaseomyces + + + + @@ -14807,6 +14977,19 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:376913 + Haplorrhini + + + + @@ -17136,13 +17319,13 @@ - Commelinidae + Commeliniflorae - Commeliniflorae + Commelinidae @@ -17655,6 +17838,21 @@ + + + + + + NCBITaxon:221665 + NCBITaxon:44280 + GC_ID:1 + ncbi_taxonomy + NCBITaxon:4893 + Saccharomycetaceae + + + + @@ -18886,6 +19084,41 @@ + + + + + + GC_ID:1 + PMID:14654427 + ncbi_taxonomy + Candida glabrata + Cryptococcus glabratus + Torulopsis glabrata + NCBITaxon:5478 + [Candida] glabrata + + + + + Candida glabrata + + + + + + Cryptococcus glabratus + + + + + + Torulopsis glabrata + + + + + @@ -20533,6 +20766,18 @@ + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:600669 + Nakaseomyces/Candida clade + + + + @@ -22677,6 +22922,53 @@ + + + + + + GC_ID:1 + brown shrimp + ncbi_taxonomy + Penaeus (Farfantepenaeus) aztecus + Penaeus aztecus + NCBITaxon:6690 + Farfantepenaeus aztecus + + + + + brown shrimp + + + + + + Penaeus (Farfantepenaeus) aztecus + + + + + + Penaeus aztecus + + + + + + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:6692 + Pleocyemata + + + + @@ -22699,6 +22991,93 @@ + + + + + + GC_ID:1 + short-tailed crabs + true crabs + ncbi_taxonomy + NCBITaxon:6752 + Brachyura + + + + + short-tailed crabs + + + + + + true crabs + + + + + + + + + + + GC_ID:1 + swimming crabs + ncbi_taxonomy + NCBITaxon:6757 + Portunidae + + + + + swimming crabs + + + + + + + + + + + GC_ID:1 + mangrove crabs + mud crabs + ncbi_taxonomy + NCBITaxon:6760 + Scylla + + + + + mangrove crabs + + + + + + mud crabs + + + + + + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:6774 + Portunoidea + + + + @@ -26213,6 +26592,26 @@ + + + + + + GC_ID:1 + green mud crab + ncbi_taxonomy + NCBITaxon:85552 + Scylla paramamosain + + + + + green mud crab + + + + + @@ -26225,6 +26624,19 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:85653 + Farfantepenaeus + + + + @@ -26848,6 +27260,40 @@ + + + + + + GC_ID:1 + primate + ncbi_taxonomy + Primata + primates + NCBITaxon:9443 + Primates + + + + + primate + + + + + + Primata + + + + + + primates + + + + + @@ -26997,6 +27443,93 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:9526 + Catarrhini + + + + + + + + + + GC_ID:1 + great apes + ncbi_taxonomy + Pongidae + NCBITaxon:9604 + Hominidae + + + + + great apes + + + + + + Pongidae + + + + + + + + + + + GC_ID:1 + humans + ncbi_taxonomy + NCBITaxon:9605 + Homo + + + + + humans + + + + + + + + + + + GC_ID:1 + human + man + ncbi_taxonomy + NCBITaxon:9606 + Homo sapiens + + + + + human + + + + + + man + + + + + @@ -27104,6 +27637,88 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:9922 + Capra + + + + + + + + + + NCBITaxon:57076 + GC_ID:1 + domestic goat + goat + goats + ncbi_taxonomy + Capra aegagrus hircus + Carpa hircus + South African angora goat + NCBITaxon:9925 + Capra hircus + + + + + domestic goat + + + + + + goat + + + + + + goats + + + + + + Capra aegagrus hircus + + + + + + Carpa hircus + + + + + + South African angora goat + + + + + + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:9963 + Caprinae + + + + diff --git a/src/ontology/imports/pato_import.obo b/src/ontology/imports/pato_import.obo index 5cdb3eb88d..57674ce079 100644 --- a/src/ontology/imports/pato_import.obo +++ b/src/ontology/imports/pato_import.obo @@ -7,12 +7,44 @@ name: quality def: "A dependent entity that inheres in a bearer by virtue of how the bearer is related to other entities" [PATOC:GVG] synonym: "trait" EXACT [] +[Term] +id: PATO:0000025 +name: composition +def: "A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts." [PATOC:GVG] +synonym: "composed of" EXACT [] +synonym: "compositionality" EXACT [] +synonym: "content" EXACT [] +synonym: "structure, composition" EXACT [] +is_a: PATO:0000141 ! structure + +[Term] +id: PATO:0000033 +name: concentration of +def: "A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance." [Wikipedia:http\://en.wikipedia.org/wiki/concentration] +synonym: "concentration" EXACT [] +is_a: PATO:0002182 ! molecular quality + +[Term] +id: PATO:0000048 +name: hardness +def: "A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced" [merriam-webster:merriam-webster] +synonym: "impenetrability" RELATED [] +synonym: "toughness" RELATED [] +is_a: PATO:0001546 ! quality of a solid + [Term] id: PATO:0000051 name: morphology def: "A quality of a single physical entity inhering in the bearer by virtue of the bearer's size or shape or structure." [PATOC:GVG] is_a: PATO:0001241 ! physical object quality +[Term] +id: PATO:0000052 +name: shape +def: "A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc)." [PATOC:GVG] +synonym: "relational shape quality" EXACT [] +is_a: PATO:0000051 ! morphology + [Term] id: PATO:0000060 name: spatial pattern @@ -21,6 +53,23 @@ synonym: "distribution" EXACT [] synonym: "pattern" RELATED [] is_a: PATO:0000140 ! position +[Term] +id: PATO:0000068 +name: qualitative +is_a: PATO:0000001 ! quality + +[Term] +id: PATO:0000069 +name: deviation(from_normal) +def: "A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average." [PATOC:GVG] +is_a: PATO:0000068 ! qualitative + +[Term] +id: PATO:0000117 +name: size +def: "A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude." [WordNet:WordNet] +is_a: PATO:0000051 ! morphology + [Term] id: PATO:0000140 name: position @@ -38,12 +87,131 @@ synonym: "conformation" BROAD [VT:1000738] synonym: "relational structural quality" EXACT [] is_a: PATO:0000051 ! morphology +[Term] +id: PATO:0000146 +name: temperature +def: "A physical quality of the thermal energy of a system." [PATOC:GVG] +is_a: PATO:0001018 ! physical quality + +[Term] +id: PATO:0000261 +name: maturity +def: "A quality of a single physical entity which is held by a bearer when the latter exhibits complete growth, differentiation, or development." [Merriam-Webster:Merriam-Webster] +is_a: PATO:0001995 ! organismal quality + +[Term] +id: PATO:0000386 +name: hard +def: "A hardness quality of being rigid and resistant to pressure." [PATOC:GVG] +synonym: "firm" RELATED [] +synonym: "impenetrable" RELATED [] +synonym: "tough" RELATED [] +is_a: PATO:0000048 ! hardness +is_a: PATO:0002305 ! increased object quality +intersection_of: PATO:0000048 ! hardness +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0000387 +name: soft +def: "A hardness quality of giving little resistance to pressure." [PATOC:GVG] +is_a: PATO:0000048 ! hardness +is_a: PATO:0002303 ! decreased object quality +intersection_of: PATO:0000048 ! hardness +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + [Term] id: PATO:0000389 name: acute def: "A quality of a process inhering in a bearer by virtue of the bearer's having a sudden onset, sharp rise, and short course." [dictionary:reference] is_a: PATO:0001309 ! duration +[Term] +id: PATO:0000402 +name: branched +def: "A branchiness quality inhering in a bearer by virtue of the bearer's having branches." [WordNet:WordNet] +synonym: "ramified" EXACT [] +synonym: "ramiform" EXACT [] +is_a: PATO:0002009 ! branchiness + +[Term] +id: PATO:0000411 +name: circular +def: "A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center." [thefreedictionary.com:thefreedictionary.com] +synonym: "round" RELATED [] +synonym: "rounded" RELATED [] +is_a: PATO:0000947 ! elliptic + +[Term] +id: PATO:0000461 +name: normal +def: "A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average." [PATOC:GVG] +synonym: "average" RELATED [] +is_a: PATO:0000069 ! deviation(from_normal) + +[Term] +id: PATO:0000498 +name: increased duration +def: "A duration quality of a process which is relatively high." [PATOC:GVG] +synonym: "chronic" RELATED [] +synonym: "high time" EXACT [] +synonym: "increased period" EXACT [] +synonym: "increased time" EXACT [] +synonym: "prolonged period" RELATED [] +synonym: "slow time" RELATED [] +is_a: PATO:0001309 ! duration +is_a: PATO:0002304 ! increased process quality +intersection_of: PATO:0001309 ! duration +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0000499 +name: decreased duration +def: "A duration quality of a process which is relatively low." [PATOC:GVG] +synonym: "decreased period" EXACT [] +synonym: "decreased time" EXACT [] +synonym: "fast time" RELATED [] +synonym: "low period" EXACT [] +synonym: "shortened period" EXACT [] +is_a: PATO:0001309 ! duration +is_a: PATO:0002302 ! decreased process quality +intersection_of: PATO:0001309 ! duration +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0000586 +name: increased size +def: "A size quality which is relatively high." [PATOC:GVG] +synonym: "big" RELATED [] +synonym: "enlarged" RELATED [] +synonym: "expanded" RELATED [] +synonym: "great" RELATED [] +synonym: "large" RELATED [] +is_a: PATO:0000117 ! size +is_a: PATO:0002305 ! increased object quality +intersection_of: PATO:0000117 ! size +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0000587 +name: decreased size +def: "A size quality which is relatively low." [PATOC:GVG] +synonym: "hypoplasia" NARROW [] +synonym: "reduced" RELATED [] +synonym: "small" RELATED [] +synonym: "tiny" RELATED [] +synonym: "underdeveloped" NARROW [] +is_a: PATO:0000117 ! size +is_a: PATO:0002303 ! decreased object quality +intersection_of: PATO:0000117 ! size +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + [Term] id: PATO:0000627 name: localized @@ -58,6 +226,50 @@ name: necrotic def: "A structural quality inhering in a bearer by virtue of the bearer's undergoing unprogrammed cell death." [Wikipedia:http\://en.wikipedia.org/wiki/Necrotic] is_a: PATO:0000141 ! structure +[Term] +id: PATO:0000947 +name: elliptic +def: "A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section." [PATOC:GVG] +synonym: "ellipse-shaped" EXACT [] +synonym: "ellipsoid" EXACT [] +synonym: "elliptical" EXACT [] +synonym: "oval" RELATED [] +synonym: "ovoid" RELATED [] +is_a: PATO:0002318 ! superelliptic + +[Term] +id: PATO:0000957 +name: opacity +def: "An optical quality which obtains by virtue of the ability of the bearer to absorb visible light." [PATOC:GVG] +is_a: PATO:0001300 ! optical quality + +[Term] +id: PATO:0000963 +name: opaque +def: "A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy." [PATOC:GVG] +synonym: "clouding" RELATED [] +synonym: "cloudy" RELATED [] +synonym: "non-transparent" EXACT [] +is_a: PATO:0000957 ! opacity + +[Term] +id: PATO:0000970 +name: permeability +def: "A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion)." [Biology-online:Biology-online] +is_a: PATO:0000141 ! structure + +[Term] +id: PATO:0000973 +name: porosity +def: "A permeability quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices." [PATOC:GVG] +is_a: PATO:0000970 ! permeability + +[Term] +id: PATO:0000984 +name: porous +def: "A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices." [PATOC:GVG] +is_a: PATO:0000973 ! porosity + [Term] id: PATO:0001018 name: physical quality @@ -89,6 +301,42 @@ synonym: "quality of an object" EXACT [] synonym: "quality of continuant" EXACT [] is_a: PATO:0000001 ! quality +[Term] +id: PATO:0001291 +name: electromagnetic (EM) radiation quality +def: "A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation." [Wikipedia:http\://en.wikipedia.org/wiki/Electromagnetic_radiation] +is_a: PATO:0001739 ! radiation quality + +[Term] +id: PATO:0001300 +name: optical quality +def: "An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light." [PATOC:GVG] +is_a: PATO:0001291 ! electromagnetic (EM) radiation quality + +[Term] +id: PATO:0001305 +name: increased temperature +def: "A temperature which is relatively high." [PATOC:GVG] +synonym: "high temperature" EXACT [] +synonym: "hot" EXACT [] +is_a: PATO:0000146 ! temperature +is_a: PATO:0002305 ! increased object quality +intersection_of: PATO:0000146 ! temperature +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0001306 +name: decreased temperature +def: "A temperature which is relatively low." [PATOC:GVG] +synonym: "cold" EXACT [] +synonym: "low temperature" EXACT [] +is_a: PATO:0000146 ! temperature +is_a: PATO:0002303 ! decreased object quality +intersection_of: PATO:0000146 ! temperature +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + [Term] id: PATO:0001309 name: duration @@ -97,12 +345,134 @@ synonym: "period" EXACT [] synonym: "time" RELATED [] is_a: PATO:0002062 ! physical quality of a process +[Term] +id: PATO:0001374 +name: ploidy +def: "A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism." [Wikipedia:http\://en.wikipedia.org/wiki/Ploidy] +is_a: PATO:0001396 ! cellular quality + +[Term] +id: PATO:0001375 +name: haploid +def: "A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes." [Wikipedia:http\://en.wikipedia.org/wiki/Haploid] +is_a: PATO:0001393 ! euploid + +[Term] +id: PATO:0001393 +name: euploid +def: "A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes." [Wikipedia:http\://en.wikipedia.org/wiki/Euploid] +is_a: PATO:0001374 ! ploidy + +[Term] +id: PATO:0001394 +name: diploid +def: "A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father." [Wikipedia:http\://en.wikipedia.org/wiki/Diploid] +is_a: PATO:0001393 ! euploid + +[Term] +id: PATO:0001396 +name: cellular quality +def: "A monadic quality of continuant that exists at the cellular level of organisation." [PATOC:GVG] +is_a: PATO:0001241 ! physical object quality + +[Term] +id: PATO:0001397 +name: cellular potency +def: "A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types." [PATOC:GVG] +is_a: PATO:0001396 ! cellular quality + +[Term] +id: PATO:0001400 +name: unipotent +def: "A cellular potency that is the capacity to produce only one differentiated cell type." [Wikipedia:http\://en.wikipedia.org/wiki/Unipotent] +is_a: PATO:0001397 ! cellular potency + +[Term] +id: PATO:0001401 +name: oligopotent +def: "A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity." [PATOC:MAH] +is_a: PATO:0001397 ! cellular potency + +[Term] +id: PATO:0001402 +name: multipotent +def: "A cellular potency that is the capacity to form multiple differentiated cell types." [Wikipedia:http\://en.wikipedia.org/wiki/Multipotent] +is_a: PATO:0001397 ! cellular potency + +[Term] +id: PATO:0001404 +name: nucleate quality +def: "A cellular quality inhering in a bearer by virtue of bearer's number of nuclei." [PATOC:GVG] +is_a: PATO:0001396 ! cellular quality + +[Term] +id: PATO:0001405 +name: anucleate +def: "A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus." [Biology-online:Biology-online] +is_a: PATO:0001404 ! nucleate quality + +[Term] +id: PATO:0001407 +name: mononucleate +def: "A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus." [Biology-online:Biology-online] +is_a: PATO:0002505 ! nucleated + [Term] id: PATO:0001414 name: catalytic activity def: "A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action." [PATOC:GVG] is_a: PATO:0001018 ! physical quality +[Term] +id: PATO:0001475 +name: increased position +def: "A position which is relatively high." [PATOC:GVG] +synonym: "high position" RELATED [] +is_a: PATO:0000140 ! position +is_a: PATO:0002305 ! increased object quality +intersection_of: PATO:0000140 ! position +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0001476 +name: decreased position +def: "A positional which is relatively low." [PATOC:GVG] +synonym: "low position" RELATED [] +is_a: PATO:0000140 ! position +is_a: PATO:0002303 ! decreased object quality +intersection_of: PATO:0000140 ! position +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0001501 +name: immature +def: "A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development." [Merriam-Webster:Merriam-Webster] +synonym: "underdeveloped" RELATED [] +is_a: PATO:0000261 ! maturity + +[Term] +id: PATO:0001546 +name: quality of a solid +def: "A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable." [Chemistry:http\://chemistry.about.com/od/chemistryglossary/a/soliddefinition.htm] +synonym: "solidity" EXACT [] +is_a: PATO:0002198 ! quality of a substance + +[Term] +id: PATO:0001547 +name: quality of a gas +def: "A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape." [Chemistry:http\://chemistry.about.com/od/chemistryglossary/a/gasdefinition.htm, PATOC:GVG] +synonym: "gaseous" EXACT [] +is_a: PATO:0002198 ! quality of a substance + +[Term] +id: PATO:0001548 +name: quality of a liquid +def: "A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape." [url:http\://www.chemistry-dictionary.com/definition/liquid.php] +synonym: "liquidity" EXACT [] +is_a: PATO:0002198 ! quality of a substance + [Term] id: PATO:0001566 name: distributed @@ -111,6 +481,56 @@ synonym: "diffuse" EXACT [] synonym: "scattered" EXACT [] is_a: PATO:0000060 ! spatial pattern +[Term] +id: PATO:0001655 +name: osmolarity +def: "A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution." [Wikipedia:http\://en.wikipedia.org/wiki/Osmolarity] +is_a: PATO:0000033 ! concentration of + +[Term] +id: PATO:0001656 +name: decreased osmolarity +def: "A osmolarity which is relatively low." [PATOC:GVG] +synonym: "low osmolarity" EXACT [] +is_a: PATO:0001655 ! osmolarity +is_a: PATO:0002303 ! decreased object quality +intersection_of: PATO:0001655 ! osmolarity +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0001657 +name: increased osmolarity +def: "A osmolarity which is relatively high." [PATOC:GVG] +synonym: "high osmolarity" EXACT [] +is_a: PATO:0001655 ! osmolarity +is_a: PATO:0002305 ! increased object quality +intersection_of: PATO:0001655 ! osmolarity +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0001671 +name: increased distribution +def: "A distribution which is relatively high." [PATOC:GVG] +synonym: "high distribution" EXACT [] +is_a: PATO:0001475 ! increased position +is_a: PATO:0001566 ! distributed +intersection_of: PATO:0001566 ! distributed +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0001672 +name: decreased distribution +def: "A distribution which is relatively low." [PATOC:GVG] +synonym: "low distribution" EXACT [] +is_a: PATO:0001476 ! decreased position +is_a: PATO:0001566 ! distributed +intersection_of: PATO:0001566 ! distributed +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + [Term] id: PATO:0001673 name: cystic @@ -118,12 +538,87 @@ def: "Structure quality that is the presence of closed epithelium bounded capsul synonym: "cysts" NARROW [] is_a: PATO:0002014 ! structure, cavities +[Term] +id: PATO:0001739 +name: radiation quality +def: "A quality that inheres in an bearer by virtue of how that bearer interacts with radiation." [PATOC:GVG] +is_a: PATO:0001018 ! physical quality + +[Term] +id: PATO:0001759 +name: granular +def: "A composition quality inhering in a bearer by virtue of the bearer's containing granules." [thefreedictionary.com:thefreedictionary.com] +is_a: PATO:0000025 ! composition + +[Term] +id: PATO:0001857 +name: concave +def: "A shape quality in a bearer by virtue of the bearer's curving inward." [WordNet:WordNet] +is_a: PATO:0002005 ! concavity + [Term] id: PATO:0001863 name: chronic def: "A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration." [PATOC:cjm] is_a: PATO:0001309 ! duration +[Term] +id: PATO:0001873 +name: cylindrical +def: "A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section." [PATOC:MAH] +synonym: "rod-like" EXACT [] +synonym: "rod-shaped" EXACT [] +synonym: "tubulate" NARROW [] +is_a: PATO:0002007 ! convex 3-D shape +relationship: has_cross_section PATO:0000411 ! circular + +[Term] +id: PATO:0001874 +name: discoid +def: "A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter." [PATOC:cjm] +synonym: "disc-shaped" EXACT [] +synonym: "disk-shaped" EXACT [] +is_a: PATO:0001873 ! cylindrical + +[Term] +id: PATO:0001985 +name: frozen +def: "A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point." [OBI:OBI] +is_a: PATO:0000146 ! temperature + +[Term] +id: PATO:0001995 +name: organismal quality +def: "A quality that inheres in an entire organism or part of an organism." [PATOC:CJM] +is_a: PATO:0001241 ! physical object quality + +[Term] +id: PATO:0002005 +name: concavity +def: "Surface shape that refers to the inward or outward curvature of the surface." [PATOC:MAH] +is_a: PATO:0000052 ! shape + +[Term] +id: PATO:0002006 +name: 2-D shape +def: "A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity." [PATOC:CJM] +synonym: "2-D projection" RELATED [] +synonym: "cross-sectional" RELATED [] +is_a: PATO:0000052 ! shape + +[Term] +id: PATO:0002007 +name: convex 3-D shape +def: "A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave." [PATOC:CJM] +is_a: PATO:0002266 ! 3-D shape +relationship: has_cross_section PATO:0002006 ! 2-D shape + +[Term] +id: PATO:0002009 +name: branchiness +def: "A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity." [PATOC:MAH] +is_a: PATO:0000052 ! shape + [Term] id: PATO:0002011 name: neoplastic @@ -137,11 +632,49 @@ name: structure, cavities def: "A structural quality that inheres in a bearer by virtue of the bearer's containing hollow areas." [PATOC:GVG] is_a: PATO:0000141 ! structure +[Term] +id: PATO:0002039 +name: biconcave +def: "A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces." [PATOC:GVG] +is_a: PATO:0001857 ! concave + [Term] id: PATO:0002062 name: physical quality of a process is_a: PATO:0001236 ! process quality +[Term] +id: PATO:0002070 +name: affinity +def: "A molecular quality that arises from the molecular attraction exerted between two atoms or compounds." [PATOC:GVG] +is_a: PATO:0002182 ! molecular quality + +[Term] +id: PATO:0002071 +name: increased affinity +def: "An affinity which is relatively high." [PATOC:GVG] +is_a: PATO:0002070 ! affinity +is_a: PATO:0002305 ! increased object quality +intersection_of: PATO:0002070 ! affinity +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002072 +name: decreased affinity +def: "An affinity which is relatively low." [PATOC:GVG] +is_a: PATO:0002070 ! affinity +is_a: PATO:0002303 ! decreased object quality +intersection_of: PATO:0002070 ! affinity +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002094 +name: basophilic +def: "An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific ph conditions." [PATOC:GVG] +is_a: PATO:0002070 ! affinity + [Term] id: PATO:0002096 name: neoplastic, non-malignant @@ -166,6 +699,12 @@ def: "A disposition inhering in a tumour by virtue of the bearer's disposition t is_a: PATO:0002011 ! neoplastic disjoint_from: PATO:0002132 ! neoplastic, non-invasive +[Term] +id: PATO:0002124 +name: laminar +def: "A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer." [PATOC:GVG] +is_a: PATO:0000141 ! structure + [Term] id: PATO:0002129 name: neoplastic, invasive @@ -179,3 +718,161 @@ name: neoplastic, non-invasive def: "A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues." [PATOC:GVG] is_a: PATO:0002011 ! neoplastic +[Term] +id: PATO:0002182 +name: molecular quality +def: "A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc." [PATOC:GVG] +synonym: "relational molecular quality" EXACT [] +is_a: PATO:0001241 ! physical object quality + +[Term] +id: PATO:0002198 +name: quality of a substance +def: "A quality inhering in a bearer by virtue of its constitution." [PATOC:GVG] +is_a: PATO:0001018 ! physical quality + +[Term] +id: PATO:0002266 +name: 3-D shape +def: "A shape that inheres in a 3 dimensional entity." [PATOC:OREGON] +is_a: PATO:0000052 ! shape + +[Term] +id: PATO:0002300 +name: increased quality +def: "A quality that has a value that is increased compared to normal or average." [PATOC:GVG] +is_a: PATO:0000069 ! deviation(from_normal) +intersection_of: PATO:0000001 ! quality +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002301 +name: decreased quality +def: "A quality that has a value that is decreased compared to normal or average." [PATOC:GVG] +is_a: PATO:0000069 ! deviation(from_normal) +intersection_of: PATO:0000001 ! quality +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002302 +name: decreased process quality +def: "A quality of a process that has a value that is decreased compared to normal or average." [PATOC:GVG] +is_a: PATO:0001236 ! process quality +is_a: PATO:0002301 ! decreased quality +intersection_of: PATO:0001236 ! process quality +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002303 +name: decreased object quality +def: "A quality of an object that has a value that is decreased compared to normal or average." [PATOC:GVG] +is_a: PATO:0001241 ! physical object quality +is_a: PATO:0002301 ! decreased quality +intersection_of: PATO:0001241 ! physical object quality +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002304 +name: increased process quality +def: "A quality of a process that has a value that is increased compared to normal or average." [PATOC:GVG] +is_a: PATO:0001236 ! process quality +is_a: PATO:0002300 ! increased quality +intersection_of: PATO:0001236 ! process quality +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002305 +name: increased object quality +def: "A quality of an object that has a value that is increased compared to normal or average." [PATOC:GVG] +is_a: PATO:0001241 ! physical object quality +is_a: PATO:0002300 ! increased quality +intersection_of: PATO:0001241 ! physical object quality +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0002318 +name: superelliptic +def: "A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt" [wiktionary:superellipse] +synonym: "Lamé curve" EXACT [] +is_a: PATO:0002006 ! 2-D shape + +[Term] +id: PATO:0002505 +name: nucleated +def: "A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus." [PATOC:GVG] +is_a: PATO:0001404 ! nucleate quality + +[Term] +id: PATO:0015021 +name: combustibility +def: "The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids." [https://en.wikipedia.org/wiki/Combustibility, https://github.com/EnvironmentOntology/envo/issues/384] +is_a: PATO:0001018 ! physical quality + +[Term] +id: PATO:0015022 +name: increased combustibility +def: "An increase in combustibility." [] +synonym: "combustible" EXACT [] +is_a: PATO:0002305 ! increased object quality +is_a: PATO:0015021 ! combustibility +intersection_of: PATO:0015021 ! combustibility +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0015023 +name: decreased combustibility +def: "An decrease in combustibility." [] +synonym: "noncombustible" RELATED [] +is_a: PATO:0002303 ! decreased object quality +is_a: PATO:0015021 ! combustibility +intersection_of: PATO:0015021 ! combustibility +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0015024 +name: increased porosity +def: "An increase in porosity." [https://github.com/pato-ontology/pato/issues/110] +is_a: PATO:0000973 ! porosity +is_a: PATO:0002305 ! increased object quality +intersection_of: PATO:0000973 ! porosity +intersection_of: increased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: increased_in_magnitude_relative_to PATO:0000461 ! normal + +[Term] +id: PATO:0015025 +name: decreased porosity +def: "An decrease in porosity." [https://github.com/pato-ontology/pato/issues/110] +is_a: PATO:0000973 ! porosity +is_a: PATO:0002303 ! decreased object quality +intersection_of: PATO:0000973 ! porosity +intersection_of: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: decreased_in_magnitude_relative_to PATO:0000461 ! normal +relationship: opposite_of PATO:0015024 ! increased porosity + +[Typedef] +id: decreased_in_magnitude_relative_to +domain: PATO:0000001 ! quality +range: PATO:0000001 ! quality +is_transitive: true +is_a: different_in_magnitude_relative_to + +[Typedef] +id: different_in_magnitude_relative_to +domain: PATO:0000001 ! quality +range: PATO:0000001 ! quality + +[Typedef] +id: increased_in_magnitude_relative_to +domain: PATO:0000001 ! quality +range: PATO:0000001 ! quality +is_transitive: true +is_a: different_in_magnitude_relative_to + diff --git a/src/ontology/imports/pato_import.owl b/src/ontology/imports/pato_import.owl index c95f5a4500..ba5c6d7153 100644 --- a/src/ontology/imports/pato_import.owl +++ b/src/ontology/imports/pato_import.owl @@ -59,6 +59,60 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. + composed of + compositionality + content + structure, composition + composition + + + + + A single physical entity inhering in an bearer by virtue of the bearer's quantities or relative ratios of subparts. + PATOC:GVG + + + + + + + + + A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. + concentration + concentration of + + + + + A quality inhering in a substance by virtue of the amount of the bearer's there is mixed with another substance. + Wikipedia:http://en.wikipedia.org/wiki/concentration + + + + + + + + + A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced + impenetrability + toughness + hardness + + + + + A physical quality inhering in a bearer by virtue of the bearer's resistance to pressure, being broken, or pierced + merriam-webster:merriam-webster + + + + @@ -102,6 +211,23 @@ + + + + + A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). + relational shape quality + shape + + + + + A morphological quality inhering in a bearer by virtue of the bearer's ratios of distances between its features (points, edges, surfaces and also holes etc). + PATOC:GVG + + + + @@ -120,6 +246,47 @@ + + + + + qualitative + + + + + + + + + A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. + deviation(from_normal) + + + + + A quality inhering in a bearer by virtue of the whether the bearer differs from normal or average. + PATOC:GVG + + + + + + + + + A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. + size + + + + + A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude. + WordNet:WordNet + + + + @@ -163,6 +330,109 @@ + + + + + A physical quality of the thermal energy of a system. + temperature + + + + + A physical quality of the thermal energy of a system. + PATOC:GVG + + + + + + + + + A quality of a single physical entity which is held by a bearer when the latter exhibits complete growth, differentiation, or development. + maturity + + + + + A quality of a single physical entity which is held by a bearer when the latter exhibits complete growth, differentiation, or development. + Merriam-Webster:Merriam-Webster + + + + + + + + + + + + + + + + + + + + + + + + + + + A hardness quality of being rigid and resistant to pressure. + firm + impenetrable + tough + hard + + + + + A hardness quality of being rigid and resistant to pressure. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A hardness quality of giving little resistance to pressure. + soft + + + + + A hardness quality of giving little resistance to pressure. + PATOC:GVG + + + + @@ -179,6 +449,216 @@ + + + + + A branchiness quality inhering in a bearer by virtue of the bearer's having branches. + ramified + ramiform + branched + + + + + A branchiness quality inhering in a bearer by virtue of the bearer's having branches. + WordNet:WordNet + + + + + + + + + A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. + round + rounded + circular + + + + + A shape quality inhering in a bearer by virtue of the bearer's being such that every part of the surface or the circumference is equidistant from the center. + thefreedictionary.com:thefreedictionary.com + + + + + + + + + A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. + average + normal + + + + + A quality inhering in a bearer by virtue of the bearer's exhibiting no deviation from normal or average. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A duration quality of a process which is relatively high. + high time + increased period + increased time + chronic + prolonged period + slow time + increased duration + + + + + A duration quality of a process which is relatively high. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A duration quality of a process which is relatively low. + decreased period + decreased time + low period + shortened period + fast time + decreased duration + + + + + A duration quality of a process which is relatively low. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A size quality which is relatively high. + big + enlarged + expanded + great + large + increased size + + + + + A size quality which is relatively high. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A size quality which is relatively low. + hypoplasia + underdeveloped + reduced + small + tiny + decreased size + + + + + A size quality which is relatively low. + PATOC:GVG + + + + @@ -213,6 +693,110 @@ + + + + + A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. + ellipse-shaped + ellipsoid + elliptical + oval + ovoid + elliptic + + + + + A spheroid quality inhering in a bearer by virtue of the bearer's being oval with two axes of symmetry, as produced by a conical section. + PATOC:GVG + + + + + + + + + An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. + opacity + + + + + An optical quality which obtains by virtue of the ability of the bearer to absorb visible light. + PATOC:GVG + + + + + + + + + A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. + non-transparent + clouding + cloudy + opaque + + + + + A optical quality inhering in a bearer by virtue of the bearer's not being clear; not transmitting or reflecting light or radiant energy. + PATOC:GVG + + + + + + + + + A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion). + permeability + + + + + A structural quality inhering in a bearer by virtue of the bearer's disposition to being permeated or pervaded by a gas or liquid (as by osmosis or diffusion). + Biology-online:Biology-online + + + + + + + + + A permeability quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices. + porosity + + + + + A permeability quality inhering in a bearer by virtue of the bearer's disposition to admit the passage of gas or liquid through pores or interstices. + PATOC:GVG + + + + + + + + + A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices. + porous + + + + + A porosity quality inhering in a bearer by virtue of the bearer's being capable of admitting the passage of gas or liquid through pores or interstices. + PATOC:GVG + + + + @@ -274,87 +858,873 @@ - + - - - A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. - period - time - duration + + + A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. + electromagnetic (EM) radiation quality - + - A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. - PATOC:mellybelly + A physical quality that inheres in an bearer by virtue of how that bearer interacts with electromagnetic radiation. + Wikipedia:http://en.wikipedia.org/wiki/Electromagnetic_radiation - + - - - A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. - catalytic activity + + + An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. + optical quality - + - A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. + An EM radiation quality in which the EM radiation is within the fiat range of the spectrum visible deemed to be light. PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + A temperature which is relatively high. + high temperature + hot + increased temperature + + + + + A temperature which is relatively high. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A temperature which is relatively low. + cold + low temperature + decreased temperature + + + + + A temperature which is relatively low. + PATOC:GVG + + + + + + + + + A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. + period + time + duration + + + + + A process quality inhering in a bearer by virtue of the bearer's magnitude of the temporal extent between the starting and ending point. + PATOC:mellybelly + + + + + + + + + A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. + ploidy + + + + + A cellular quality inhering in a bearer by virtue of the bearer's number of homologous sets of chromosomes in the nucleus or primary chromosome-containing compartment of the cell, each set essentially coding for all the biological traits of the organism. + Wikipedia:http://en.wikipedia.org/wiki/Ploidy + + + + + + + + + A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes. + haploid + + + + + A ploidy quality inhering in a bearer by virtue of the bearer's containing a single set of homologous chromosomes. + Wikipedia:http://en.wikipedia.org/wiki/Haploid + + + + + + + + + A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. + euploid + + + + + A ploidy quality inhering in a bearer by virtue of the bearer's containing an integral multiple of the monoploid number, possibly excluding the sex-determining chromosomes. + Wikipedia:http://en.wikipedia.org/wiki/Euploid + + + + + + + + + A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father. + diploid + + + + + A ploidy quality inhering in a bearer by virtue of the bearer's having two copies (homologs) of each chromosome, usually one from the mother and one from the father. + Wikipedia:http://en.wikipedia.org/wiki/Diploid + + + + + + + + + A monadic quality of continuant that exists at the cellular level of organisation. + cellular quality + + + + + A monadic quality of continuant that exists at the cellular level of organisation. + PATOC:GVG + + + + + + + + + A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. + cellular potency + + + + + A cellular quality that arises by virtue of whether the bearer's disposition to differentiate into one or more mature cell types. + PATOC:GVG + + + + + + + + + A cellular potency that is the capacity to produce only one differentiated cell type. + unipotent + + + + + A cellular potency that is the capacity to produce only one differentiated cell type. + Wikipedia:http://en.wikipedia.org/wiki/Unipotent + + + + + + + + + A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. + oligopotent + + + + + A cellular potency that is the capacity to form multiple differentiated cell types of a specific lineage and lack self renewing capacity. + PATOC:MAH + + + + + + + + + A cellular potency that is the capacity to form multiple differentiated cell types. + multipotent + + + + + A cellular potency that is the capacity to form multiple differentiated cell types. + Wikipedia:http://en.wikipedia.org/wiki/Multipotent + + + + + + + + + A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. + nucleate quality + + + + + A cellular quality inhering in a bearer by virtue of bearer's number of nuclei. + PATOC:GVG + + + + + + + + + A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. + anucleate + + + + + A nucleate quality inhering in a bearer by virtue of the bearer's having no nucleus. + Biology-online:Biology-online + + + + + + + + + A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. + mononucleate + + + + + A nucleate quality inhering in a bearer by virtue of the bearer's having one nucleus. + Biology-online:Biology-online + + + + + + + + + A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. + catalytic activity + + + + + A physical quality inhering in a catalyst by virtue of the amount of the catalyst's action. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A position which is relatively high. + high position + increased position + + + + + A position which is relatively high. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A positional which is relatively low. + low position + decreased position + + + + + A positional which is relatively low. + PATOC:GVG + + + + + + + + + A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development. + underdeveloped + immature + + + + + A quality inhering in a bearer by virtue of the bearer's lacking complete growth, differentiation, or development. + Merriam-Webster:Merriam-Webster + + + + + + + + + A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. + solidity + quality of a solid + + + + + A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity characterized by particles arranged such that their shape and volume are relatively stable. + Chemistry:http://chemistry.about.com/od/chemistryglossary/a/soliddefinition.htm + + + + + + + + + A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. + gaseous + quality of a gas + + + + + A physical quality inhering in a bearer by virtue of the bearer's exhibiting the physical characteristics of an entity consisting of particles that have neither a defined volume nor defined shape. + Chemistry:http://chemistry.about.com/od/chemistryglossary/a/gasdefinition.htm + PATOC:GVG + + + + + + + + + A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. + liquidity + quality of a liquid + + + + + A physical quality inhering in an entity exhibiting the physical characteristics of an amorphous (non-crystalline) form of matter between a gas and a solid that has a definite volume, but no definite shape. + url:http://www.chemistry-dictionary.com/definition/liquid.php + + + + - - - A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. - diffuse - scattered - distributed + + + A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. + diffuse + scattered + distributed + + + + + A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. + WordNet:WordNet + + + + + + + + + A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution. + osmolarity + + + + + A concentration quality inhering in a bearer by virtue of the bearer's amount of osmoles of solute per liter of solution. + Wikipedia:http://en.wikipedia.org/wiki/Osmolarity + + + + + + + + + + + + + + + + + + + + + + + + + + + A osmolarity which is relatively low. + low osmolarity + decreased osmolarity + + + + + A osmolarity which is relatively low. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A osmolarity which is relatively high. + high osmolarity + increased osmolarity + + + + + A osmolarity which is relatively high. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A distribution which is relatively high. + high distribution + increased distribution + + + + + A distribution which is relatively high. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A distribution which is relatively low. + low distribution + decreased distribution + + + + + A distribution which is relatively low. + PATOC:GVG + + + + + + + + + Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. + cysts + cystic + + + + + Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. + PATOC:MAH + + + + + + + + + A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. + radiation quality + + + + + A quality that inheres in an bearer by virtue of how that bearer interacts with radiation. + PATOC:GVG + + + + + + + + + A composition quality inhering in a bearer by virtue of the bearer's containing granules. + granular + + + + + A composition quality inhering in a bearer by virtue of the bearer's containing granules. + thefreedictionary.com:thefreedictionary.com + + + + + + + + + A shape quality in a bearer by virtue of the bearer's curving inward. + concave + + + + + A shape quality in a bearer by virtue of the bearer's curving inward. + WordNet:WordNet + + + + + + + + + A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. + chronic + + + + + A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. + PATOC:cjm + + + + + + + + + + + + + + + A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. + rod-like + rod-shaped + tubulate + cylindrical - + - A spatial pattern inhering in a bearer by virtue of the bearer's being spread out or scattered about or divided up. - WordNet:WordNet + A convex 3-D shape quality inhering in a bearer by virtue of the bearer's exhibiting a consistently-sized round cross section. + PATOC:MAH - + - - - Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. - cysts - cystic + + + A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. + disc-shaped + disk-shaped + discoid - + - Structure quality that is the presence of closed epithelium bounded capsules containing one or more liquid or solid organism substances. + A shape quality inhering in a bearer by virtue of the bearer's being cylindrical, in which the height is less than the diameter. + PATOC:cjm + + + + + + + + + A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point. + frozen + + + + + A quality inhering in a bearer by virtue of the bearer's being kept below its freezing point. + OBI:OBI + + + + + + + + + A quality that inheres in an entire organism or part of an organism. + organismal quality + + + + + A quality that inheres in an entire organism or part of an organism. + PATOC:CJM + + + + + + + + + Surface shape that refers to the inward or outward curvature of the surface. + concavity + + + + + Surface shape that refers to the inward or outward curvature of the surface. PATOC:MAH - + - - - A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. - chronic + + + A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. + 2-D projection + cross-sectional + 2-D shape - + - A duration quality of a process inhering in a bearer by virtue of the bearer's having slow progressive course of indefinite duration. - PATOC:cjm + A shape that inheres in a 2 dimensional entity, such as a cross section or projection of a 3 dimensional entity. + PATOC:CJM + + + + + + + + + + + + + + + A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. + convex 3-D shape + + + + + A complete three dimensional shape in which for every line connecting pair of points on the object is within the object. Or: a shape lacking cavities. Contrast: concave. + PATOC:CJM + + + + + + + + + A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. + branchiness + + + + + A shape quality inhering in a bearer by virtue of the degree to which there are subdivisions or offshoots in a bearer entity. + PATOC:MAH @@ -392,6 +1762,22 @@ + + + + + A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. + biconcave + + + + + A concave quality inhering in a bearer by virtue of the bearer's curving inward on both sides or surfaces. + PATOC:GVG + + + + @@ -401,6 +1787,106 @@ + + + + + A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. + affinity + + + + + A molecular quality that arises from the molecular attraction exerted between two atoms or compounds. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + An affinity which is relatively high. + increased affinity + + + + + An affinity which is relatively high. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + An affinity which is relatively low. + decreased affinity + + + + + An affinity which is relatively low. + PATOC:GVG + + + + + + + + + An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific ph conditions. + basophilic + + + + + An affinity inhering in a tissue constituent by virtue of the bearer exhibiting a molecular interaction for basic dyes under specific ph conditions. + PATOC:GVG + + + + @@ -455,6 +1941,22 @@ + + + + + A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. + laminar + + + + + A quality inhering in a bearer by virtue of the bearer's processing the form of a thin plate sheet or layer. + PATOC:GVG + + + + @@ -485,6 +1987,439 @@ A disposition inhering in a tumour by virtue of the bearer's disposition not to invade surrounding tissues. PATOC:GVG + + + + + + + + A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. + relational molecular quality + molecular quality + + + + + A quality which inheres in a molecular entity, a single molecule, atom, ion, radical etc. + PATOC:GVG + + + + + + + + + A quality inhering in a bearer by virtue of its constitution. + quality of a substance + + + + + A quality inhering in a bearer by virtue of its constitution. + PATOC:GVG + + + + + + + + + A shape that inheres in a 3 dimensional entity. + 3-D shape + + + + + A shape that inheres in a 3 dimensional entity. + PATOC:OREGON + + + + + + + + + + + + + + + + + + + + + + + + + + A quality that has a value that is increased compared to normal or average. + increased quality + + + + + A quality that has a value that is increased compared to normal or average. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + A quality that has a value that is decreased compared to normal or average. + decreased quality + + + + + A quality that has a value that is decreased compared to normal or average. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A quality of a process that has a value that is decreased compared to normal or average. + decreased process quality + + + + + A quality of a process that has a value that is decreased compared to normal or average. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A quality of an object that has a value that is decreased compared to normal or average. + decreased object quality + + + + + A quality of an object that has a value that is decreased compared to normal or average. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A quality of a process that has a value that is increased compared to normal or average. + increased process quality + + + + + A quality of a process that has a value that is increased compared to normal or average. + PATOC:GVG + + + + + + + + + + + + + + + + + + + + + + + + + + + A quality of an object that has a value that is increased compared to normal or average. + increased object quality + + + + + A quality of an object that has a value that is increased compared to normal or average. + PATOC:GVG + + + + + + + + + A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt + Lamé curve + superelliptic + + + + + A shape constituting a transition between a rectangle and a circle; a closed curve, of which the circle and ellipse are special cases, whose parametric equation is x = a.cos2/rt, y = b.cos2/rt + wiktionary:superellipse + + + + + + + + + A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. + nucleated + + + + + A nucleate quality inhering in a bearer by virtue of the bearer's having one or more nucleus. + PATOC:GVG + + + + + + + + + The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids. + combustibility + + + + + The propensity of a material to undergo combustion. Combustion encompasses smouldering and flaming combustion. Combustibility is usually applied to solids. + https://en.wikipedia.org/wiki/Combustibility + https://github.com/EnvironmentOntology/envo/issues/384 + + + + + + + + + + + + + + + + + + + + + + + + + + + An increase in combustibility. + combustible + increased combustibility + + + + + + + + + + + + + + + + + + + + + + + + + + + An decrease in combustibility. + noncombustible + decreased combustibility + + + + + + + + + + + + + + + + + + + + + + + + + + + An increase in porosity. + increased porosity + + + + + An increase in porosity. + https://github.com/pato-ontology/pato/issues/110 + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + An decrease in porosity. + decreased porosity + + + + + An decrease in porosity. + https://github.com/pato-ontology/pato/issues/110 + diff --git a/src/ontology/imports/pato_terms.txt b/src/ontology/imports/pato_terms.txt index d427d1eb53..c657e1c680 100644 --- a/src/ontology/imports/pato_terms.txt +++ b/src/ontology/imports/pato_terms.txt @@ -1,12 +1,112 @@ +http://purl.obolibrary.org/obo/PATO_0000001 +http://purl.obolibrary.org/obo/PATO_0000025 +http://purl.obolibrary.org/obo/PATO_0000033 +http://purl.obolibrary.org/obo/PATO_0000048 +http://purl.obolibrary.org/obo/PATO_0000051 +http://purl.obolibrary.org/obo/PATO_0000052 +http://purl.obolibrary.org/obo/PATO_0000060 +http://purl.obolibrary.org/obo/PATO_0000068 +http://purl.obolibrary.org/obo/PATO_0000069 +http://purl.obolibrary.org/obo/PATO_0000117 +http://purl.obolibrary.org/obo/PATO_0000140 +http://purl.obolibrary.org/obo/PATO_0000141 +http://purl.obolibrary.org/obo/PATO_0000146 +http://purl.obolibrary.org/obo/PATO_0000261 +http://purl.obolibrary.org/obo/PATO_0000386 +http://purl.obolibrary.org/obo/PATO_0000387 http://purl.obolibrary.org/obo/PATO_0000389 +http://purl.obolibrary.org/obo/PATO_0000402 +http://purl.obolibrary.org/obo/PATO_0000411 +http://purl.obolibrary.org/obo/PATO_0000461 +http://purl.obolibrary.org/obo/PATO_0000498 +http://purl.obolibrary.org/obo/PATO_0000499 +http://purl.obolibrary.org/obo/PATO_0000586 +http://purl.obolibrary.org/obo/PATO_0000587 http://purl.obolibrary.org/obo/PATO_0000627 http://purl.obolibrary.org/obo/PATO_0000647 +http://purl.obolibrary.org/obo/PATO_0000947 +http://purl.obolibrary.org/obo/PATO_0000957 +http://purl.obolibrary.org/obo/PATO_0000963 +http://purl.obolibrary.org/obo/PATO_0000970 +http://purl.obolibrary.org/obo/PATO_0000973 +http://purl.obolibrary.org/obo/PATO_0000984 +http://purl.obolibrary.org/obo/PATO_0001018 +http://purl.obolibrary.org/obo/PATO_0001236 +http://purl.obolibrary.org/obo/PATO_0001241 +http://purl.obolibrary.org/obo/PATO_0001291 +http://purl.obolibrary.org/obo/PATO_0001300 +http://purl.obolibrary.org/obo/PATO_0001305 +http://purl.obolibrary.org/obo/PATO_0001306 +http://purl.obolibrary.org/obo/PATO_0001309 +http://purl.obolibrary.org/obo/PATO_0001374 +http://purl.obolibrary.org/obo/PATO_0001375 +http://purl.obolibrary.org/obo/PATO_0001393 +http://purl.obolibrary.org/obo/PATO_0001394 +http://purl.obolibrary.org/obo/PATO_0001396 +http://purl.obolibrary.org/obo/PATO_0001397 +http://purl.obolibrary.org/obo/PATO_0001400 +http://purl.obolibrary.org/obo/PATO_0001401 +http://purl.obolibrary.org/obo/PATO_0001402 +http://purl.obolibrary.org/obo/PATO_0001404 +http://purl.obolibrary.org/obo/PATO_0001405 +http://purl.obolibrary.org/obo/PATO_0001407 http://purl.obolibrary.org/obo/PATO_0001414 +http://purl.obolibrary.org/obo/PATO_0001475 +http://purl.obolibrary.org/obo/PATO_0001476 +http://purl.obolibrary.org/obo/PATO_0001501 +http://purl.obolibrary.org/obo/PATO_0001546 +http://purl.obolibrary.org/obo/PATO_0001547 +http://purl.obolibrary.org/obo/PATO_0001548 http://purl.obolibrary.org/obo/PATO_0001566 +http://purl.obolibrary.org/obo/PATO_0001655 +http://purl.obolibrary.org/obo/PATO_0001656 +http://purl.obolibrary.org/obo/PATO_0001657 +http://purl.obolibrary.org/obo/PATO_0001671 +http://purl.obolibrary.org/obo/PATO_0001672 http://purl.obolibrary.org/obo/PATO_0001673 +http://purl.obolibrary.org/obo/PATO_0001739 +http://purl.obolibrary.org/obo/PATO_0001759 +http://purl.obolibrary.org/obo/PATO_0001857 http://purl.obolibrary.org/obo/PATO_0001863 +http://purl.obolibrary.org/obo/PATO_0001873 +http://purl.obolibrary.org/obo/PATO_0001874 +http://purl.obolibrary.org/obo/PATO_0001985 +http://purl.obolibrary.org/obo/PATO_0001995 +http://purl.obolibrary.org/obo/PATO_0002005 +http://purl.obolibrary.org/obo/PATO_0002006 +http://purl.obolibrary.org/obo/PATO_0002007 +http://purl.obolibrary.org/obo/PATO_0002009 +http://purl.obolibrary.org/obo/PATO_0002011 +http://purl.obolibrary.org/obo/PATO_0002014 +http://purl.obolibrary.org/obo/PATO_0002039 +http://purl.obolibrary.org/obo/PATO_0002062 +http://purl.obolibrary.org/obo/PATO_0002070 +http://purl.obolibrary.org/obo/PATO_0002071 +http://purl.obolibrary.org/obo/PATO_0002072 +http://purl.obolibrary.org/obo/PATO_0002094 http://purl.obolibrary.org/obo/PATO_0002096 http://purl.obolibrary.org/obo/PATO_0002097 http://purl.obolibrary.org/obo/PATO_0002098 +http://purl.obolibrary.org/obo/PATO_0002124 http://purl.obolibrary.org/obo/PATO_0002129 http://purl.obolibrary.org/obo/PATO_0002132 +http://purl.obolibrary.org/obo/PATO_0002182 +http://purl.obolibrary.org/obo/PATO_0002198 +http://purl.obolibrary.org/obo/PATO_0002266 +http://purl.obolibrary.org/obo/PATO_0002300 +http://purl.obolibrary.org/obo/PATO_0002301 +http://purl.obolibrary.org/obo/PATO_0002302 +http://purl.obolibrary.org/obo/PATO_0002303 +http://purl.obolibrary.org/obo/PATO_0002304 +http://purl.obolibrary.org/obo/PATO_0002305 +http://purl.obolibrary.org/obo/PATO_0002318 +http://purl.obolibrary.org/obo/PATO_0002505 +http://purl.obolibrary.org/obo/PATO_0015021 +http://purl.obolibrary.org/obo/PATO_0015022 +http://purl.obolibrary.org/obo/PATO_0015023 +http://purl.obolibrary.org/obo/PATO_0015024 +http://purl.obolibrary.org/obo/PATO_0015025 +http://purl.obolibrary.org/obo/pato#decreased_in_magnitude_relative_to +http://purl.obolibrary.org/obo/pato#has_cross_section +http://purl.obolibrary.org/obo/pato#increased_in_magnitude_relative_to +http://purl.obolibrary.org/obo/pato#opposite_of diff --git a/src/ontology/imports/ro_import.obo b/src/ontology/imports/ro_import.obo index b24a5aca34..36788e7c5a 100644 --- a/src/ontology/imports/ro_import.obo +++ b/src/ontology/imports/ro_import.obo @@ -1,6 +1,5 @@ format-version: 1.2 ontology: mondo/imports/ro_import -owl-axioms: Prefix(owl:=)\nPrefix(rdf:=)\nPrefix(xml:=)\nPrefix(xsd:=)\nPrefix(rdfs:=)\n\n\nOntology(\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(Class())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\nDeclaration(ObjectProperty())\n############################\n# Object Properties\n############################\n\n# Object Property: ()\n\nSubObjectPropertyOf( ObjectInverseOf())\n\n# Object Property: ()\n\nObjectPropertyRange( ObjectUnionOf( ))\n\n\n############################\n# Classes\n############################\n\n# Class: ()\n\nDisjointClasses( ObjectSomeValuesFrom( ))\n\n# Class: ()\n\nDisjointClasses( ObjectSomeValuesFrom( ))\n\n\nSubClassOf(ObjectSomeValuesFrom( ) ObjectUnionOf(ObjectSomeValuesFrom( ObjectSomeValuesFrom( )) ObjectSomeValuesFrom( ObjectSomeValuesFrom( ObjectSomeValuesFrom( )))))\nSubObjectPropertyOf(ObjectPropertyChain( ) )\nSubObjectPropertyOf(ObjectPropertyChain( ) )\nSubObjectPropertyOf(ObjectPropertyChain( ) )\nSubObjectPropertyOf(ObjectPropertyChain( ) )\nSubObjectPropertyOf(ObjectPropertyChain( ) )\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()) ClassAtom( Variable()) ClassAtom( Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ClassAtom( Variable()) ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ClassAtom( Variable()) ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()) ClassAtom( Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ClassAtom( Variable()) ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\nDLSafeRule(Body(ObjectPropertyAtom( Variable() Variable()) ObjectPropertyAtom( Variable() Variable()))Head(ObjectPropertyAtom( Variable() Variable())))\n) [Term] id: BFO:0000002 @@ -30,6 +29,7 @@ is_a: BFO:0000003 ! occurrent id: BFO:0000016 name: disposition is_a: BFO:0000017 ! realizable entity +disjoint_from: BFO:0000023 ! role [Term] id: BFO:0000017 @@ -49,11 +49,23 @@ name: specifically dependent continuant def: "A continuant that inheres in or is borne by other entities. Every instance of A requires some specific instance of B which must always be the same." [] is_a: BFO:0000002 ! continuant +[Term] +id: BFO:0000023 +name: role +def: "A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts." [] +is_a: BFO:0000017 ! realizable entity + [Term] id: BFO:0000040 name: material entity def: "An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time." [] is_a: BFO:0000004 ! independent continuant +disjoint_from: BFO:0000141 ! immaterial entity + +[Term] +id: BFO:0000141 +name: immaterial entity +is_a: BFO:0000004 ! independent continuant [Term] id: CARO:0000003 @@ -65,6 +77,33 @@ id: CARO:0000006 name: material anatomical entity is_a: BFO:0000040 ! material entity +[Term] +id: CARO:0001000 +name: multi-cell-part structure +is_a: CARO:0000003 ! anatomical structure + +[Term] +id: CARO:0001001 +name: neuron projection bundle +is_a: CARO:0001000 ! multi-cell-part structure + +[Term] +id: CARO:0010000 +name: multicellular anatomical structure +is_a: CARO:0000003 ! anatomical structure +relationship: RO:0002207 CARO:0010000 ! directly develops from multicellular anatomical structure + +[Term] +id: CL:0000000 +name: cell +is_a: CARO:0000003 ! anatomical structure +relationship: RO:0002207 CL:0000000 ! directly develops from cell + +[Term] +id: CL:0000540 +name: neuron +is_a: CL:0000000 ! cell + [Term] id: GO:0003674 name: molecular_function @@ -79,6 +118,59 @@ id: GO:0008150 name: biological_process is_a: BFO:0000015 ! process +[Term] +id: PATO:0000001 +name: quality +is_a: BFO:0000020 ! specifically dependent continuant + +[Term] +id: PATO:0000051 +name: morphology +is_a: BFO:0000019 ! quality +is_a: PATO:0001241 ! physical object quality + +[Term] +id: PATO:0000052 +name: shape +is_a: PATO:0000051 ! morphology + +[Term] +id: PATO:0000141 +name: structure +is_a: PATO:0000051 ! morphology + +[Term] +id: PATO:0000402 +name: branched +is_a: PATO:0002009 ! branchiness + +[Term] +id: PATO:0001241 +name: physical object quality +is_a: PATO:0000001 ! quality + +[Term] +id: PATO:0002009 +name: branchiness +is_a: PATO:0000052 ! shape + +[Term] +id: PATO:0002124 +name: laminar +is_a: PATO:0000141 ! structure + +[Term] +id: RO:0002310 +name: exposure event or process +def: "A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism." [] +is_a: BFO:0000015 ! process + +[Term] +id: RO:0002577 +name: system +def: "A material entity consisting of multiple components that are causally integrated." [] +is_a: BFO:0000040 ! material entity + [Typedef] id: BFO:0000050 name: part of @@ -164,6 +256,32 @@ comment: Paraphrase of definition: a relation between an independent continuant property_value: IAO:0000111 "site of" xsd:string property_value: isDefinedBy http://purl.obolibrary.org/obo/bfo.owl +[Typedef] +id: RO:0000052 +name: inheres in +def: "a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence" [] +property_value: IAO:0000111 "inheres in" xsd:string +property_value: IAO:0000112 "this fragility inheres in this vase" xsd:string +property_value: IAO:0000112 "this red color inheres in this apple" xsd:string +property_value: IAO:0000116 "A dependent inheres in its bearer at all times for which the dependent exists." xsd:string +property_value: IAO:0000118 "inheres_in" xsd:string +property_value: RO:0001900 RO:0001901 +is_a: RO:0002314 ! inheres in part of +inverse_of: RO:0000053 ! bearer of + +[Typedef] +id: RO:0000053 +name: bearer of +def: "a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence" [] +property_value: IAO:0000111 "bearer of" xsd:string +property_value: IAO:0000112 "this apple is bearer of this red color" xsd:string +property_value: IAO:0000112 "this vase is bearer of this fragility" xsd:string +property_value: IAO:0000116 "A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist." xsd:string +property_value: IAO:0000118 "bearer_of" xsd:string +property_value: IAO:0000118 "is bearer of" xsd:string +property_value: RO:0001900 RO:0001901 +range: BFO:0000020 ! specifically dependent continuant + [Typedef] id: RO:0000056 name: participates in @@ -192,6 +310,170 @@ domain: BFO:0000003 ! occurrent range: BFO:0000002 ! continuant holds_over_chain: BFO:0000051 RO:0000057 +[Typedef] +id: RO:0000080 +name: quality of +def: "a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence" [] +property_value: IAO:0000112 "this red color is a quality of this apple" xsd:string +property_value: IAO:0000116 "A quality inheres in its bearer at all times for which the quality exists." xsd:string +property_value: IAO:0000118 "is quality of" xsd:string +property_value: IAO:0000118 "quality_of" xsd:string +is_a: RO:0000052 ! inheres in +inverse_of: RO:0000086 ! has quality + +[Typedef] +id: RO:0000081 +name: role of +def: "a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence" [] +property_value: IAO:0000112 "this investigator role is a role of this person" xsd:string +property_value: IAO:0000116 "A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists." xsd:string +property_value: IAO:0000118 "is role of" xsd:string +property_value: IAO:0000118 "role_of" xsd:string +is_a: RO:0000052 ! inheres in +inverse_of: RO:0000087 ! has role + +[Typedef] +id: RO:0000086 +name: has quality +def: "a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence" [] +property_value: IAO:0000112 "this apple has quality this red color" xsd:string +property_value: IAO:0000116 "A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist." xsd:string +property_value: IAO:0000118 "has_quality" xsd:string +range: BFO:0000019 ! quality +is_a: RO:0000053 ! bearer of + +[Typedef] +id: RO:0000087 +name: has role +def: "a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence" [] +property_value: IAO:0000112 "this person has role this investigator role (more colloquially: this person has this role of investigator)" xsd:string +property_value: IAO:0000116 "A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists." xsd:string +property_value: IAO:0000118 "has_role" xsd:string +domain: BFO:0000004 ! independent continuant +range: BFO:0000023 ! role +is_a: RO:0000053 ! bearer of + +[Typedef] +id: RO:0000300 +name: in neural circuit with +def: "A relation that holds between two neurons connected directly via a synapse, or indirectly via a series of synaptically connected neurons." [] +is_transitive: true + +[Typedef] +id: RO:0000301 +name: upstream in neural circuit with +def: "A relation that holds between a neuron that is synapsed_to another neuron or a neuron that is connected indirectly to another by a chain of neurons, each synapsed_to the next." [] +is_transitive: true +is_a: RO:0000300 ! in neural circuit with + +[Typedef] +id: RO:0000302 +name: downstream in neural circuit with +def: "A relation that holds between a neuron that is synapsed_to another neuron or a neuron that is connected indirectly to another by a chain of neurons, each synapsed_to the next." [] +is_transitive: true +is_a: RO:0000300 ! in neural circuit with + +[Typedef] +id: RO:0001000 +name: derives from +def: "a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity" [] +property_value: IAO:0000112 "this cell derives from this parent cell (cell division)" xsd:string +property_value: IAO:0000112 "this nucleus derives from this parent nucleus (nuclear division)" xsd:string +property_value: IAO:0000114 IAO:0000125 +property_value: IAO:0000116 "This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'." xsd:string +property_value: IAO:0000118 "derives_from" xsd:string +inverse_of: RO:0001001 ! derives into + +[Typedef] +id: RO:0001001 +name: derives into +def: "a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity" [] +property_value: IAO:0000112 "this parent cell derives into this cell (cell division)" xsd:string +property_value: IAO:0000112 "this parent nucleus derives into this nucleus (nuclear division)" xsd:string +property_value: IAO:0000114 IAO:0000125 +property_value: IAO:0000116 "This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'." xsd:string +property_value: IAO:0000118 "derives_into" xsd:string + +[Typedef] +id: RO:0001015 +name: location of +def: "a relation between two independent continuants, the location and the target, in which the target is entirely within the location" [] +property_value: IAO:0000111 "is location of" xsd:string +property_value: IAO:0000112 "my head is the location of my brain" xsd:string +property_value: IAO:0000112 "this cage is the location of this rat" xsd:string +property_value: IAO:0000116 "Most location relations will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime" xsd:string +property_value: IAO:0000118 "location_of" xsd:string +property_value: RO:0001900 RO:0001901 +is_transitive: true +inverse_of: RO:0001025 ! located in + +[Typedef] +id: RO:0001018 +name: contained in +domain: BFO:0000040 ! material entity +range: BFO:0000004 ! independent continuant +holds_over_chain: RO:0001025 BFO:0000050 +inverse_of: RO:0001019 ! contains + +[Typedef] +id: RO:0001019 +name: contains + +[Typedef] +id: RO:0001025 +name: located in +def: "a relation between two independent continuants, the target and the location, in which the target is entirely within the location" [] +property_value: http://purl.org/dc/elements/1.1/source http://www.obofoundry.org/ro/#OBO_REL:located_in xsd:string +property_value: IAO:0000111 "located in" xsd:string +property_value: IAO:0000112 "my brain is located in my head" xsd:string +property_value: IAO:0000112 "this rat is located in this cage" xsd:string +property_value: IAO:0000116 "Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus" xsd:string +property_value: IAO:0000116 "Most location relations will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime" xsd:string +property_value: IAO:0000118 "located_in" xsd:string +property_value: RO:0001900 RO:0001901 +is_transitive: true + +[Typedef] +id: RO:0002000 +name: 2D boundary of +def: "a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity" [] +property_value: IAO:0000112 "the surface of my skin is a 2D boundary of my body" xsd:string +property_value: IAO:0000116 "A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts." xsd:string +property_value: IAO:0000116 "Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape." xsd:string +property_value: IAO:0000118 "2D_boundary_of" xsd:string +property_value: IAO:0000118 "boundary of" xsd:string +property_value: IAO:0000118 "is 2D boundary of" xsd:string +property_value: IAO:0000118 "is boundary of" xsd:string +property_value: RO:0001900 RO:0001901 +is_a: RO:0002323 ! mereotopologically related to +inverse_of: RO:0002002 ! has 2D boundary + +[Typedef] +id: RO:0002002 +name: has 2D boundary +def: "a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity" [] +property_value: IAO:0000112 "my body has 2D boundary the surface of my skin" xsd:string +property_value: IAO:0000116 "A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts." xsd:string +property_value: IAO:0000116 "Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape." xsd:string +property_value: IAO:0000118 "has boundary" xsd:string +property_value: IAO:0000118 "has_2D_boundary" xsd:string +property_value: RO:0001900 RO:0001901 +domain: BFO:0000040 ! material entity +range: BFO:0000141 ! immaterial entity +is_a: RO:0002323 ! mereotopologically related to + +[Typedef] +id: RO:0002005 +name: innervated_by +inverse_of: RO:0002134 ! innervates + +[Typedef] +id: RO:0002007 +name: bounding layer of +def: "X outer_layer_of Y iff:\n. X :continuant that bearer_of some PATO:laminar\n. X part_of Y\n. exists Z :surface\n. X has_boundary Z\n. Z boundary_of Y\n\nhas_boundary: http://purl.obolibrary.org/obo/RO_0002002\nboundary_of: http://purl.obolibrary.org/obo/RO_0002000" [] +range: BFO:0000040 ! material entity +is_a: BFO:0000050 ! part of + [Typedef] id: RO:0002013 name: has regulatory component activity @@ -273,6 +555,7 @@ name: immediately preceded by comment: X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) property_value: IAO:0000117 "David Osumi-Sutherland" xsd:string property_value: IAO:0000118 "starts_at_end_of" xsd:string +holds_over_chain: RO:0002224 RO:0002230 is_a: BFO:0000062 ! preceded by inverse_of: RO:0002090 ! immediately precedes @@ -283,8 +566,28 @@ comment: X immediately_precedes_Y iff: end(X) simultaneous_with start(Y) property_value: IAO:0000117 "David Osumi-Sutherland" xsd:string property_value: IAO:0000118 "ends_at_start_of" xsd:string property_value: IAO:0000118 "meets" xsd:string +holds_over_chain: RO:0002230 RO:0002224 is_a: BFO:0000063 ! precedes +[Typedef] +id: RO:0002103 +name: synapsed by +def: "Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. " [] +is_a: RO:0000301 ! upstream in neural circuit with +inverse_of: RO:0002120 ! synapsed to + +[Typedef] +id: RO:0002104 +name: has plasma membrane part +def: "Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part." [] +is_a: BFO:0000051 ! has part + +[Typedef] +id: RO:0002120 +name: synapsed to +def: " Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to.\n " [] +is_a: RO:0000302 ! downstream in neural circuit with + [Typedef] id: RO:0002131 name: overlaps @@ -294,6 +597,21 @@ holds_over_chain: BFO:0000051 BFO:0000050 holds_over_chain: BFO:0000051 RO:0002131 is_a: RO:0002323 ! mereotopologically related to +[Typedef] +id: RO:0002134 +name: innervates +def: "Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input.\nT innervates some R\nExpands_to: T has_fasciculating_neuron_projection that synapse_in some R." [] +domain: CARO:0001001 ! neuron projection bundle +transitive_over: BFO:0000050 ! part of + +[Typedef] +id: RO:0002150 +name: continuous with +def: "X continuous_with Y if and only if X and Y share a fiat boundary." [] +domain: BFO:0000004 ! independent continuant +range: BFO:0000004 ! independent continuant +is_a: RO:0002323 ! mereotopologically related to + [Typedef] id: RO:0002162 name: in taxon @@ -301,9 +619,55 @@ def: "x is in taxon y if an only if y is an organism, and the relationship betwe range: BFO:0000004 ! independent continuant holds_over_chain: BFO:0000050 RO:0002162 holds_over_chain: BFO:0000051 RO:0002162 +holds_over_chain: RO:0002202 RO:0002162 holds_over_chain: RO:0002215 RO:0002162 +holds_over_chain: RO:0002217 RO:0002162 +holds_over_chain: RO:0002225 RO:0002162 +holds_over_chain: RO:0002254 RO:0002162 +holds_over_chain: RO:0002295 RO:0002162 is_a: RO:0002320 ! evolutionarily related to +[Typedef] +id: RO:0002163 +name: spatially disjoint from +def: "A is spatially_disjoint_from B if and only if they have no parts in common" [] +is_a: RO:0002323 ! mereotopologically related to + +[Typedef] +id: RO:0002170 +name: connected to +def: "a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b" [] +is_a: RO:0002323 ! mereotopologically related to + +[Typedef] +id: RO:0002176 +name: connects +def: "c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system." [] +domain: BFO:0000004 ! independent continuant +is_a: RO:0002323 ! mereotopologically related to + +[Typedef] +id: RO:0002177 +name: attached to part of +def: "a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b." [] +domain: BFO:0000040 ! material entity +range: BFO:0000040 ! material entity +holds_over_chain: RO:0002371 BFO:0000050 +is_a: RO:0002323 ! mereotopologically related to +is_a: RO:0002567 ! biomechanically related to + +[Typedef] +id: RO:0002178 +name: supplies +def: "Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy." [] +is_a: RO:0002170 ! connected to + +[Typedef] +id: RO:0002179 +name: drains +def: "Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure." [] +is_a: RO:0002170 ! connected to + [Typedef] id: RO:0002180 name: has component @@ -323,12 +687,45 @@ name: phenotype of def: "inverse of has phenotype" [] is_functional: true +[Typedef] +id: RO:0002202 +name: develops from +def: "x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y" [] +domain: BFO:0000004 ! independent continuant +range: BFO:0000004 ! independent continuant +is_transitive: true +is_a: RO:0002258 ! developmentally preceded by +inverse_of: RO:0002203 ! develops into + +[Typedef] +id: RO:0002203 +name: develops into +def: "inverse of develops from" [] +is_transitive: true +is_a: RO:0002286 ! developmentally succeeded by +is_a: RO:0002387 ! has potential to develop into +is_a: RO:0002388 ! has potential to directly develop into + +[Typedef] +id: RO:0002207 +name: directly develops from +def: "Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of y comes from x, and the start of x is coincident with or after the end of y" [] +is_a: RO:0002202 ! develops from +inverse_of: RO:0002210 ! directly develops into + +[Typedef] +id: RO:0002210 +name: directly develops into +def: "inverse of directly develops from" [] +is_a: RO:0002203 ! develops into + [Typedef] id: RO:0002211 name: regulates def: "process(P1) regulates process(P2) iff: P1 results in the initiation or termination of P2 OR affects the frequency of its initiation or termination OR affects the magnitude or rate of output of P2." [] domain: BFO:0000015 ! process range: BFO:0000015 ! process +holds_over_chain: RO:0002230 RO:0002211 holds_over_chain: RO:0002578 RO:0002578 is_transitive: true is_a: RO:0002411 ! causally upstream of @@ -338,6 +735,7 @@ inverse_of: RO:0002334 ! regulated by id: RO:0002212 name: negatively regulates def: "Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2." [] +holds_over_chain: RO:0002230 RO:0002212 is_a: RO:0002211 ! regulates is_a: RO:0002305 ! causally upstream of, negative effect inverse_of: RO:0002335 ! negatively regulated by @@ -347,6 +745,7 @@ id: RO:0002213 name: positively regulates def: "Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2." [] holds_over_chain: RO:0002212 RO:0002212 +holds_over_chain: RO:0002230 RO:0002213 is_transitive: true is_a: RO:0002211 ! regulates is_a: RO:0002304 ! causally upstream of, positive effect @@ -368,6 +767,40 @@ holds_over_chain: RO:0002215 BFO:0000050 is_a: RO:0002328 ! functionally related to is_a: RO:0002500 ! causal agent in process +[Typedef] +id: RO:0002217 +name: actively participates in +def: "x actively participates in y if and only if x participates in y and x realizes some active role" [] +is_a: RO:0000056 ! participates in +inverse_of: RO:0002218 ! has active participant + +[Typedef] +id: RO:0002218 +name: has active participant +def: "x has participant y if and only if x realizes some active role that inheres in y" [] +is_a: RO:0000057 ! has participant + +[Typedef] +id: RO:0002219 +name: surrounded by +def: "x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x" [] +is_a: RO:0002220 ! adjacent to +inverse_of: RO:0002221 ! surrounds + +[Typedef] +id: RO:0002220 +name: adjacent to +def: "x adjacent to y if and only if x and y share a boundary." [] +domain: BFO:0000004 ! independent continuant +range: BFO:0000004 ! independent continuant +is_a: RO:0002163 ! spatially disjoint from + +[Typedef] +id: RO:0002221 +name: surrounds +def: "inverse of surrounded by" [] +is_a: RO:0002220 ! adjacent to + [Typedef] id: RO:0002222 name: temporally related to @@ -378,15 +811,151 @@ property_value: IAO:0000119 https://en.wikipedia.org/wiki/Allen%27s_interval_alg domain: BFO:0000003 ! occurrent range: BFO:0000003 ! occurrent +[Typedef] +id: RO:0002223 +name: starts +def: "inverse of starts with" [] +property_value: IAO:0000114 IAO:0000125 +property_value: IAO:0000117 "Chris Mungall" xsd:string +property_value: IAO:0000119 "Allen" xsd:string +is_a: BFO:0000050 ! part of +is_a: RO:0002222 ! temporally related to +inverse_of: RO:0002224 ! starts with + +[Typedef] +id: RO:0002224 +name: starts with +def: "x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point." [] +property_value: IAO:0000112 "Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor" xsd:string +property_value: IAO:0000114 IAO:0000125 +property_value: IAO:0000117 "Chris Mungall" xsd:string +property_value: IAO:0000118 "started by" xsd:string +is_transitive: true +is_a: BFO:0000051 ! has part +is_a: RO:0002222 ! temporally related to + +[Typedef] +id: RO:0002225 +name: develops from part of +def: "x develops from part of y if and only if there exists some z such that x develops from z and z is part of y" [] +holds_over_chain: RO:0002207 BFO:0000050 +is_a: RO:0002202 ! develops from + +[Typedef] +id: RO:0002226 +name: develops in +def: "x develops_in y if x is located in y whilst x is developing" [] +domain: CARO:0000003 ! anatomical structure +holds_over_chain: RO:0002207 RO:0001025 +is_a: RO:0002258 ! developmentally preceded by + +[Typedef] +id: RO:0002229 +name: ends +def: "inverse of ends with" [] +property_value: IAO:0000114 IAO:0000125 +property_value: IAO:0000117 "Chris Mungall" xsd:string +is_a: BFO:0000050 ! part of +is_a: RO:0002222 ! temporally related to +inverse_of: RO:0002230 ! ends with + +[Typedef] +id: RO:0002230 +name: ends with +def: "x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point." [] +property_value: IAO:0000114 IAO:0000125 +property_value: IAO:0000117 "Chris Mungall" xsd:string +property_value: IAO:0000118 "finished by" xsd:string +is_transitive: true +is_a: BFO:0000051 ! has part +is_a: RO:0002222 ! temporally related to + +[Typedef] +id: RO:0002231 +name: has start location +def: "x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y" [] +domain: BFO:0000015 ! process +range: BFO:0000004 ! independent continuant +holds_over_chain: RO:0002224 BFO:0000066 +is_a: RO:0002479 ! has part that occurs in + +[Typedef] +id: RO:0002232 +name: has end location +def: "x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y" [] +domain: BFO:0000015 ! process +range: BFO:0000004 ! independent continuant +holds_over_chain: RO:0002230 BFO:0000066 +is_a: RO:0002479 ! has part that occurs in + [Typedef] id: RO:0002233 name: has input def: "p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p." [] domain: BFO:0000015 ! process range: BFO:0000040 ! material entity +holds_over_chain: RO:0002224 RO:0002233 is_a: RO:0000057 ! has participant inverse_of: RO:0002352 ! input of +[Typedef] +id: RO:0002234 +name: has output +def: "p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p." [] +holds_over_chain: RO:0002230 RO:0002234 +is_a: RO:0000057 ! has participant +inverse_of: RO:0002353 ! output of + +[Typedef] +id: RO:0002244 +name: related via exposure to +def: "Any relationship between an exposure event or process and any other entity." [] +domain: RO:0002310 ! exposure event or process +is_a: RO:0002410 ! causally related to + +[Typedef] +id: RO:0002254 +name: has developmental contribution from +def: "x has developmental contribution from y iff x has some part z such that z develops from y" [] +domain: BFO:0000004 ! independent continuant +range: CARO:0000003 ! anatomical structure +holds_over_chain: BFO:0000051 RO:0002202 +is_a: RO:0002258 ! developmentally preceded by +inverse_of: RO:0002255 ! developmentally contributes to + +[Typedef] +id: RO:0002255 +name: developmentally contributes to +def: "inverse of has developmental contribution from" [] +holds_over_chain: RO:0002203 BFO:0000050 +is_a: RO:0002286 ! developmentally succeeded by +is_a: RO:0002385 ! has potential to developmentally contribute to + +[Typedef] +id: RO:0002256 +name: developmentally induced by +def: "t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T" [] +domain: CARO:0000003 ! anatomical structure +range: CARO:0000003 ! anatomical structure +is_a: RO:0002258 ! developmentally preceded by +inverse_of: RO:0002257 ! developmentally induces + +[Typedef] +id: RO:0002257 +name: developmentally induces +def: "Inverse of developmentally induced by" [] +is_a: RO:0002286 ! developmentally succeeded by +is_a: RO:0002386 ! has potential to developmentally induce + +[Typedef] +id: RO:0002258 +name: developmentally preceded by +def: "Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p" [] +domain: BFO:0000002 ! continuant +range: BFO:0000002 ! continuant +is_a: RO:0002324 ! developmentally related to +inverse_of: RO:0002286 ! developmentally succeeded by + [Typedef] id: RO:0002263 name: acts upstream of @@ -402,6 +971,39 @@ synonym: "affects" RELATED [] holds_over_chain: RO:0002327 RO:0002418 is_a: RO:0002500 ! causal agent in process +[Typedef] +id: RO:0002285 +name: developmentally replaces +def: "x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else" [] +is_a: RO:0002258 ! developmentally preceded by + +[Typedef] +id: RO:0002286 +name: developmentally succeeded by +def: "Inverse of developmentally preceded by" [] +is_a: RO:0002384 ! has developmental potential involving + +[Typedef] +id: RO:0002287 +name: part of developmental precursor of +holds_over_chain: BFO:0000050 RO:0002210 +is_a: RO:0002286 ! developmentally succeeded by + +[Typedef] +id: RO:0002295 +name: results in developmental progression of +def: "p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss)." [] +domain: GO:0008150 ! biological_process +range: CARO:0000003 ! anatomical structure +is_a: RO:0002324 ! developmentally related to + +[Typedef] +id: RO:0002297 +name: results in formation of +is_a: RO:0002234 ! has output +is_a: RO:0002295 ! results in developmental progression of +inverse_of: RO:0002354 ! formed as result of + [Typedef] id: RO:0002304 name: causally upstream of, positive effect @@ -414,6 +1016,20 @@ name: causally upstream of, negative effect is_a: RO:0002411 ! causally upstream of is_a: RO:0004046 ! causally upstream of or within, negative effect +[Typedef] +id: RO:0002309 +name: has exposure stimulus +def: "A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event." [] +is_a: RO:0002244 ! related via exposure to + +[Typedef] +id: RO:0002314 +name: inheres in part of +def: "q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w." [] +holds_over_chain: RO:0000052 BFO:0000050 +is_a: RO:0002502 ! depends on +transitive_over: BFO:0000050 ! part of + [Typedef] id: RO:0002320 name: evolutionarily related to @@ -429,6 +1045,11 @@ id: RO:0002323 name: mereotopologically related to def: "A mereological relationship or a topological relationship" [] +[Typedef] +id: RO:0002324 +name: developmentally related to +def: "A relationship that holds between entities participating in some developmental process (GO:0032502)" [] + [Typedef] id: RO:0002327 name: enables @@ -483,6 +1104,26 @@ name: positively regulated by def: "inverse of positively regulates" [] is_a: RO:0002334 ! regulated by +[Typedef] +id: RO:0002350 +name: member of +def: "is member of is a mereological relation between a item and a collection." [] +property_value: IAO:0000112 "An organism that is a member of a population of organisms" xsd:string +property_value: IAO:0000118 "is member of" xsd:string +property_value: IAO:0000118 "member part of" xsd:string +property_value: IAO:0000119 "SIO" xsd:string +property_value: RO:0001900 RO:0001901 +is_a: BFO:0000050 ! part of +inverse_of: RO:0002351 ! has member + +[Typedef] +id: RO:0002351 +name: has member +def: "has member is a mereological relation between a collection and an item." [] +property_value: IAO:0000119 "SIO" xsd:string +property_value: RO:0001900 RO:0001901 +is_a: BFO:0000051 ! has part + [Typedef] id: RO:0002352 name: input of @@ -490,6 +1131,105 @@ def: "inverse of has input" [] is_a: RO:0000056 ! participates in is_a: RO:0002328 ! functionally related to +[Typedef] +id: RO:0002353 +name: output of +def: "inverse of has output" [] +is_a: RO:0000056 ! participates in +is_a: RO:0002328 ! functionally related to + +[Typedef] +id: RO:0002354 +name: formed as result of +is_a: RO:0002353 ! output of + +[Typedef] +id: RO:0002371 +name: attached to +def: "a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a" [] +is_symmetric: true +is_a: RO:0002170 ! connected to +is_a: RO:0002177 ! attached to part of + +[Typedef] +id: RO:0002372 +name: has muscle origin +def: "m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to." [] +is_a: RO:0002371 ! attached to +is_a: RO:0002567 ! biomechanically related to + +[Typedef] +id: RO:0002373 +name: has muscle insertion +def: "m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone." [] +is_a: RO:0002371 ! attached to +is_a: RO:0002567 ! biomechanically related to + +[Typedef] +id: RO:0002374 +name: has fused element +def: "x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat" [] +is_a: RO:0002320 ! evolutionarily related to + +[Typedef] +id: RO:0002375 +name: in branching relationship with +def: "A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network." [] +domain: BFO:0000040 ! material entity +range: BFO:0000040 ! material entity +is_a: BFO:0000050 ! part of +is_a: RO:0002323 ! mereotopologically related to + +[Typedef] +id: RO:0002376 +name: tributary of +def: "x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein." [] +is_a: RO:0002375 ! in branching relationship with + +[Typedef] +id: RO:0002379 +name: spatially coextensive with +def: "x spatially_coextensive_with y if and inly if x and y have the same location" [] +is_a: RO:0002131 ! overlaps + +[Typedef] +id: RO:0002380 +name: branching part of +def: "x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y" [] +is_a: BFO:0000050 ! part of +is_a: RO:0002375 ! in branching relationship with +inverse_of: RO:0002569 ! has branching part + +[Typedef] +id: RO:0002384 +name: has developmental potential involving +def: "x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction)." [] +is_a: RO:0002324 ! developmentally related to + +[Typedef] +id: RO:0002385 +name: has potential to developmentally contribute to +def: "x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y" [] +is_a: RO:0002384 ! has developmental potential involving + +[Typedef] +id: RO:0002386 +name: has potential to developmentally induce +def: "x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y" [] +is_a: RO:0002384 ! has developmental potential involving + +[Typedef] +id: RO:0002387 +name: has potential to develop into +def: "x has the potential to develop into y iff x develops into y or if x is capable of developing into y" [] +is_a: RO:0002384 ! has developmental potential involving + +[Typedef] +id: RO:0002388 +name: has potential to directly develop into +def: "x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y" [] +is_a: RO:0002387 ! has potential to develop into + [Typedef] id: RO:0002404 name: causally downstream of @@ -582,6 +1322,12 @@ holds_over_chain: RO:0002327 BFO:0000066 is_a: RO:0002131 ! overlaps is_a: RO:0002328 ! functionally related to +[Typedef] +id: RO:0002433 +name: contributes to morphology of +def: "p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm." [] +is_a: RO:0002131 ! overlaps + [Typedef] id: RO:0002434 name: interacts with @@ -626,6 +1372,12 @@ name: transmitted by def: "A relationship that holds between a disease and organism" [] is_a: RO:0002321 ! ecologically related to +[Typedef] +id: RO:0002473 +name: composed primarily of +def: "x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y." [] +is_a: BFO:0000051 ! has part + [Typedef] id: RO:0002479 name: has part that occurs in @@ -634,6 +1386,80 @@ domain: BFO:0000003 ! occurrent range: BFO:0000004 ! independent continuant holds_over_chain: BFO:0000051 BFO:0000066 +[Typedef] +id: RO:0002487 +name: relation between structure and stage +domain: BFO:0000002 ! continuant +range: BFO:0000003 ! occurrent + +[Typedef] +id: RO:0002488 +name: existence starts during +def: "x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y)." [] +is_a: RO:0002490 ! existence overlaps +is_a: RO:0002496 ! existence starts during or after +transitive_over: BFO:0000050 ! part of + +[Typedef] +id: RO:0002489 +name: existence starts with +def: "x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y)." [] +is_a: RO:0002488 ! existence starts during + +[Typedef] +id: RO:0002490 +name: existence overlaps +def: "x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y))" [] +is_a: RO:0002487 ! relation between structure and stage + +[Typedef] +id: RO:0002492 +name: existence ends during +def: "x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y)." [] +is_a: RO:0002490 ! existence overlaps +is_a: RO:0002497 ! existence ends during or before +transitive_over: BFO:0000050 ! part of + +[Typedef] +id: RO:0002493 +name: existence ends with +def: "x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y)." [] +is_a: RO:0002492 ! existence ends during + +[Typedef] +id: RO:0002494 +name: transformation of +def: "x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships" [] +is_transitive: true +is_a: RO:0002202 ! develops from + +[Typedef] +id: RO:0002495 +name: immediate transformation of +def: "x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t" [] +is_a: RO:0002207 ! directly develops from +is_a: RO:0002494 ! transformation of + +[Typedef] +id: RO:0002496 +name: existence starts during or after +def: "x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y)." [] +holds_over_chain: BFO:0000050 RO:0002496 +holds_over_chain: RO:0002258 RO:0002496 +is_a: RO:0002487 ! relation between structure and stage +transitive_over: BFO:0000050 ! part of +transitive_over: BFO:0000062 ! preceded by + +[Typedef] +id: RO:0002497 +name: existence ends during or before +def: "x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends." [] +holds_over_chain: BFO:0000050 RO:0002497 +holds_over_chain: RO:0002286 RO:0002497 +is_a: RO:0002487 ! relation between structure and stage +transitive_over: BFO:0000050 ! part of +transitive_over: BFO:0000063 ! precedes + [Typedef] id: RO:0002500 name: causal agent in process @@ -649,6 +1475,10 @@ domain: BFO:0000003 ! occurrent range: BFO:0000003 ! occurrent is_a: RO:0002410 ! causally related to +[Typedef] +id: RO:0002502 +name: depends on + [Typedef] id: RO:0002506 name: causal relation between material entities @@ -656,6 +1486,40 @@ domain: BFO:0000040 ! material entity range: BFO:0000040 ! material entity is_a: RO:0002410 ! causally related to +[Typedef] +id: RO:0002507 +name: determined by +def: "s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s." [] +domain: RO:0002577 ! system +range: BFO:0000040 ! material entity +is_a: BFO:0000050 ! part of +is_a: RO:0002509 ! determined by part of +is_a: RO:0002559 ! causally influenced by +inverse_of: RO:0002508 ! determines + +[Typedef] +id: RO:0002508 +name: determines +def: "inverse of determined by" [] +is_a: RO:0002566 ! causally influences + +[Typedef] +id: RO:0002509 +name: determined by part of +def: "s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w." [] +domain: RO:0002577 ! system +range: BFO:0000040 ! material entity +holds_over_chain: RO:0002507 BFO:0000050 +is_a: RO:0002131 ! overlaps +is_a: RO:0002506 ! causal relation between material entities + +[Typedef] +id: RO:0002551 +name: has skeleton +def: "A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision." [] +is_a: BFO:0000051 ! has part +inverse_of: RO:0002576 ! skeleton of + [Typedef] id: RO:0002559 name: causally influenced by @@ -668,12 +1532,52 @@ name: causally influences def: "Holds between materal entities a and b if the activity of a is causally upstream of the activity of b, or causally upstream of a an activity that modifies b" [] is_a: RO:0002506 ! causal relation between material entities +[Typedef] +id: RO:0002567 +name: biomechanically related to +def: "A relation that holds between elements of a musculoskeletal system or its analogs." [] +is_a: RO:0002328 ! functionally related to + +[Typedef] +id: RO:0002568 +name: has muscle antagonist +def: "m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position." [] +is_a: RO:0002567 ! biomechanically related to + +[Typedef] +id: RO:0002569 +name: has branching part +def: "inverse of branching part of" [] +is_a: RO:0002375 ! in branching relationship with + +[Typedef] +id: RO:0002571 +name: lumen of +def: "x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull." [] +range: BFO:0000040 ! material entity +is_a: BFO:0000050 ! part of + +[Typedef] +id: RO:0002572 +name: luminal space of +def: "s is luminal space of x iff s is lumen_of x and s is an immaterial entity" [] +domain: BFO:0000141 ! immaterial entity +is_a: RO:0002571 ! lumen of + [Typedef] id: RO:0002573 name: has modifier def: "A relation that holds between an attribute or a qualifier and another attribute." [] domain: BFO:0000020 ! specifically dependent continuant +[Typedef] +id: RO:0002576 +name: skeleton of +def: "inverse of has skeleton" [] +domain: CARO:0000003 ! anatomical structure +range: CARO:0000003 ! anatomical structure +is_a: BFO:0000050 ! part of + [Typedef] id: RO:0002578 name: directly regulates @@ -743,6 +1647,21 @@ def: "Process(P1) directly negatively regulates process(P2) iff: P1 negatively r is_a: RO:0002212 ! negatively regulates is_a: RO:0002578 ! directly regulates +[Typedef] +id: RO:0003000 +name: produces +def: "a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix." [] +domain: BFO:0000040 ! material entity +range: BFO:0000040 ! material entity +inverse_of: RO:0003001 ! produced by + +[Typedef] +id: RO:0003001 +name: produced by +def: "a produced_by b iff some process that occurs_in b has_output a." [] +domain: BFO:0000040 ! material entity +range: BFO:0000040 ! material entity + [Typedef] id: RO:0004017 name: realizable has basis in diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index df1c7f6f4a..95c4178ba6 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -234,6 +234,40 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + inheres in + this fragility inheres in this vase + this red color inheres in this apple + a relation between a specifically dependent continuant (the dependent) and an independent continuant (the bearer), in which the dependent specifically depends on the bearer for its existence + A dependent inheres in its bearer at all times for which the dependent exists. + inheres_in + + inheres in + + + + + + + + + bearer of + this apple is bearer of this red color + this vase is bearer of this fragility + a relation between an independent continuant (the bearer) and a specifically dependent continuant (the dependent), in which the dependent specifically depends on the bearer for its existence + A bearer can have many dependents, and its dependents can exist for different periods of time, but none of its dependents can exist when the bearer does not exist. + bearer_of + is bearer of + + bearer of + + + + @@ -273,6 +307,260 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + this red color is a quality of this apple + a relation between a quality and an independent continuant (the bearer), in which the quality specifically depends on the bearer for its existence + A quality inheres in its bearer at all times for which the quality exists. + is quality of + quality_of + quality of + + + + + + + + + + this investigator role is a role of this person + a relation between a role and an independent continuant (the bearer), in which the role specifically depends on the bearer for its existence + A role inheres in its bearer at all times for which the role exists, however the role need not be realized at all the times that the role exists. + is role of + role_of + role of + + + + + + + + + + this apple has quality this red color + a relation between an independent continuant (the bearer) and a quality, in which the quality specifically depends on the bearer for its existence + A bearer can have many qualities, and its qualities can exist for different periods of time, but none of its qualities can exist when the bearer does not exist. + has_quality + has quality + + + + + + + + + + + this person has role this investigator role (more colloquially: this person has this role of investigator) + a relation between an independent continuant (the bearer) and a role, in which the role specifically depends on the bearer for its existence + A bearer can have many roles, and its roles can exist for different periods of time, but none of its roles can exist when the bearer does not exist. A role need not be realized at all the times that the role exists. + has_role + has role + + + + + + + + + A relation that holds between two neurons connected directly via a synapse, or indirectly via a series of synaptically connected neurons. + in neural circuit with + + + + + + + + + + A relation that holds between a neuron that is synapsed_to another neuron or a neuron that is connected indirectly to another by a chain of neurons, each synapsed_to the next. + upstream in neural circuit with + + + + + + + + + + A relation that holds between a neuron that is synapsed_to another neuron or a neuron that is connected indirectly to another by a chain of neurons, each synapsed_to the next. + downstream in neural circuit with + + + + + + + + + this cell derives from this parent cell (cell division) + this nucleus derives from this parent nucleus (nuclear division) + + a relation between two distinct material entities, the new entity and the old entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity + This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops from'. + derives_from + derives from + + + + + + + + this parent cell derives into this cell (cell division) + this parent nucleus derives into this nucleus (nuclear division) + + a relation between two distinct material entities, the old entity and the new entity, in which the new entity begins to exist when the old entity ceases to exist, and the new entity inherits the significant portion of the matter of the old entity + This is a very general relation. More specific relations are preferred when applicable, such as 'directly develops into'. To avoid making statements about a future that may not come to pass, it is often better to use the backward-looking 'derives from' rather than the forward-looking 'derives into'. + derives_into + derives into + + + + + + + + + + is location of + my head is the location of my brain + this cage is the location of this rat + a relation between two independent continuants, the location and the target, in which the target is entirely within the location + Most location relations will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime + location_of + + location of + + + + + + + + + + + + + + + contained in + + + + + + + + contains + + + + + + + + + located in + my brain is located in my head + this rat is located in this cage + a relation between two independent continuants, the target and the location, in which the target is entirely within the location + Location as a relation between instances: The primitive instance-level relation c located_in r at t reflects the fact that each continuant is at any given time associated with exactly one spatial region, namely its exact location. Following we can use this relation to define a further instance-level location relation - not between a continuant and the region which it exactly occupies, but rather between one continuant and another. c is located in c1, in this sense, whenever the spatial region occupied by c is part_of the spatial region occupied by c1. Note that this relation comprehends both the relation of exact location between one continuant and another which obtains when r and r1 are identical (for example, when a portion of fluid exactly fills a cavity), as well as those sorts of inexact location relations which obtain, for example, between brain and head or between ovum and uterus + Most location relations will only hold at certain times, but this is difficult to specify in OWL. See https://code.google.com/p/obo-relations/wiki/ROAndTime + located_in + + http://www.obofoundry.org/ro/#OBO_REL:located_in + located in + + + + + + + + + + the surface of my skin is a 2D boundary of my body + a relation between a 2D immaterial entity (the boundary) and a material entity, in which the boundary delimits the material entity + A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts. + Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape. + 2D_boundary_of + boundary of + is 2D boundary of + is boundary of + + 2D boundary of + + + + + + + + + + + my body has 2D boundary the surface of my skin + a relation between a material entity and a 2D immaterial entity (the boundary), in which the boundary delimits the material entity + A 2D boundary may have holes and gaps, but it must be a single connected entity, not an aggregate of several disconnected parts. + Although the boundary is two-dimensional, it exists in three-dimensional space and thus has a 3D shape. + has boundary + has_2D_boundary + + has 2D boundary + + + + + + + + + innervated_by + + + + + + + + + + + + + + + + + + + + + X outer_layer_of Y iff: +. X :continuant that bearer_of some PATO:laminar +. X part_of Y +. exists Z :surface +. X has_boundary Z +. Z boundary_of Y + +has_boundary: http://purl.obolibrary.org/obo/RO_0002002 +boundary_of: http://purl.obolibrary.org/obo/RO_0002000 + bounding layer of + + + + @@ -397,6 +685,10 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + David Osumi-Sutherland starts_at_end_of X immediately_preceded_by Y iff: end(X) simultaneous_with start(Y) @@ -409,6 +701,10 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + David Osumi-Sutherland ends_at_start_of meets @@ -418,6 +714,60 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + + + + + + + + + + + Relation between an anatomical structure (including cells) and a neuron that chemically synapses to it. + synapsed by + + + + + + + + + Holds between a cell c and a protein complex or protein p if and only if that cell has as part a plasma_membrane[GO:0005886], and that plasma membrane has p as part. + has plasma membrane part + + + + + + + + + + + + + + + + + + + + Relation between a neuron and an anatomical structure (including cells) that it chemically synapses to. + + synapsed to + + + + @@ -440,6 +790,35 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + + + + Relation between a 'neuron projection bundle' and a region in which one or more of its component neuron projections either synapses to targets or receives synaptic input. +T innervates some R +Expands_to: T has_fasciculating_neuron_projection that synapse_in some R. + innervates + + + + + + + + + + + X continuous_with Y if and only if X and Y share a fiat boundary. + continuous with + + + + @@ -453,16 +832,128 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + + + + + + + + + + + + + + x is in taxon y if an only if y is an organism, and the relationship between x and y is one of: part of (reflexive), developmentally preceded by, derives from, secreted by, expressed. in taxon + + + + + A is spatially_disjoint_from B if and only if they have no parts in common + spatially disjoint from + + + + + + + + + + + + + + + + + + + + + + + + + + + a is connected to b if and only if a and b are discrete structure, and there exists some connecting structure c, such that c connects a and b + connected to + + + + + + + + + + + + + + + + c connects a if and only if there exist some b such that a and b are similar parts of the same system, and c connects b, specifically, c connects a with b. When one structure connects two others it unites some aspect of the function or role they play within the system. + connects + + + + + + + + + + + + + + + + a is attached to part of b if a is attached to b, or a is attached to some p, where p is part of b. + attached to part of + + + + + + + + + Relation between an arterial structure and another structure, where the arterial structure acts as a conduit channeling fluid, substance or energy. + supplies + + + + + + + + + Relation between an collecting structure and another structure, where the collecting structure acts as a conduit channeling fluid, substance or energy away from the other structure. + drains + + + + @@ -496,6 +987,70 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + + + x develops from y if and only if either (a) x directly develops from y or (b) there exists some z such that x directly develops from z and z develops from y + develops from + + + + + + + + + + + + inverse of develops from + develops into + + + + + + + + + + + + + + + + + + + + + + + + + + Candidate definition: x directly_develops from y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p, and a substantial portion of the matter of y comes from x, and the start of x is coincident with or after the end of y + directly develops from + + + + + + + + + inverse of directly develops from + directly develops into + + + + @@ -504,6 +1059,10 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + @@ -520,6 +1079,10 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + Process(P1) negatively regulates process(P2) iff: P1 terminates P2, or P1 descreases the the frequency of initiation of P2 or the magnitude or rate of output of P2. negatively regulates @@ -537,6 +1100,10 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + Process(P1) postively regulates process(P2) iff: P1 initiates P2, or P1 increases the the frequency of initiation of P2 or the magnitude or rate of output of P2. positively regulates @@ -570,6 +1137,60 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + x actively participates in y if and only if x participates in y and x realizes some active role + actively participates in + + + + + + + + + x has participant y if and only if x realizes some active role that inheres in y + has active participant + + + + + + + + + + x surrounded_by y if and only if (1) x is adjacent to y and for every region r that is adjacent to x, r overlaps y (2) the shared boundary between x and y occupies the majority of the outermost boundary of x + surrounded by + + + + + + + + + + + x adjacent to y if and only if x and y share a boundary. + adjacent to + + + + + + + + + inverse of surrounded by + surrounds + + + + @@ -584,6 +1205,127 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + + inverse of starts with + Chris Mungall + Allen + starts + + + + + + + + + + + Every insulin receptor signaling pathway starts with the binding of a ligand to the insulin receptor + + x starts with y if and only if x has part y and the time point at which x starts is equivalent to the time point at which y starts. Formally: α(y) = α(x) ∧ ω(y) < ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. + Chris Mungall + started by + starts with + + + + + + + + + + + + + x develops from part of y if and only if there exists some z such that x develops from z and z is part of y + develops from part of + + + + + + + + + + + + + + x develops_in y if x is located in y whilst x is developing + develops in + + + + + + + + + + + + inverse of ends with + Chris Mungall + ends + + + + + + + + + + + + x ends with y if and only if x has part y and the time point at which x ends is equivalent to the time point at which y ends. Formally: α(y) > α(x) ∧ ω(y) = ω(x), where α is a function that maps a process to a start point, and ω is a function that maps a process to an end point. + Chris Mungall + finished by + ends with + + + + + + + + + + + + + + + x 'has starts location' y if and only if there exists some process z such that x 'starts with' z and z 'occurs in' y + has start location + + + + + + + + + + + + + + + x 'has end location' y if and only if there exists some process z such that x 'ends with' z and z 'occurs in' y + has end location + + + + @@ -591,37 +1333,192 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + p has input c iff: p is a process, c is a material entity, c is a participant in p, c is present at the start of p, and the state of c is modified during p. has input - + + + + + + + + + + p has output c iff c is a participant in p, c is present at the end of p, and c is not present at the beginning of p. + has output + + + + + + + + + + Any relationship between an exposure event or process and any other entity. + related via exposure to + + + + + + + + + + + + + + + + x has developmental contribution from y iff x has some part z such that z develops from y + has developmental contribution from + + + + + + + + + + + + + + inverse of has developmental contribution from + developmentally contributes to + + + + + + + + + + + + t1 induced_by t2 if there is a process of developmental induction (GO:0031128) with t1 and t2 as interacting participants. t2 causes t1 to change its fate from a precursor anatomical structure type T to T', where T' develops_from T + developmentally induced by + + + + + + + + + + Inverse of developmentally induced by + developmentally induces + + + + + + + + + + + + Candidate definition: x developmentally related to y if and only if there exists some developmental process (GO:0032502) p such that x and y both participates in p, and x is the output of p and y is the input of p + developmentally preceded by + + + + + + + + + + + + + c involved in regulation of p if c enables f and f causally upstream of p + acts upstream of + + + + + + + + + + + + + c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. + affects + acts upstream of or within + + + + + + + + + x developmentally replaces y if and only if there is some developmental process that causes x to move or to cease to exist, and for the site that was occupied by x to become occupied by y, where y either comes into existence in this site or moves to this site from somewhere else + developmentally replaces + + + + + + + + + Inverse of developmentally preceded by + developmentally succeeded by + + + + + - - + + - - + + - c involved in regulation of p if c enables f and f causally upstream of p - acts upstream of + part of developmental precursor of - + - - - - - - - c acts upstream of or within p if c is enables f, and f is causally upstream of or within p. c is a material entity and p is an process. - affects - acts upstream of or within + + + + + p results in the developmental progression of s iff p is a developmental process and s is an anatomical structure and p causes s to undergo a change in state at some point along its natural developmental cycle (this cycle starts with its formation, through the mature structure, and ends with its loss). + results in developmental progression of + + + + + + + + + + + results in formation of @@ -646,6 +1543,34 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + A relationship between an exposure event or process and any agent, stimulus, activity, or event that causally effects an organism and interacts with an exposure receptor during an exposure event. + has exposure stimulus + + + + + + + + + + + + + + + + + q inheres in part of w if and only if there exists some p such that q inheres in p and p part of w. + inheres in part of + + + + @@ -673,6 +1598,15 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + A relationship that holds between entities participating in some developmental process (GO:0032502) + developmentally related to + + + + @@ -779,6 +1713,35 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + An organism that is a member of a population of organisms + is member of is a mereological relation between a item and a collection. + is member of + member part of + SIO + + member of + + + + + + + + + + has member is a mereological relation between a collection and an item. + SIO + + has member + + + + @@ -790,6 +1753,177 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + inverse of has output + output of + + + + + + + + + formed as result of + + + + + + + + + + + a is attached to b if and only if a and b are discrete objects or object parts, and there are physical connections between a and b such that a force pulling a will move b, or a force pulling b will move a + attached to + + + + + + + + + + m has_muscle_origin s iff m is attached_to s, and it is the case that when m contracts, s does not move. The site of the origin tends to be more proximal and have greater mass than what the other end attaches to. + has muscle origin + + + + + + + + + + m has_muscle_insertion s iff m is attaches_to s, and it is the case that when m contracts, s moves. Insertions are usually connections of muscle via tendon to bone. + has muscle insertion + + + + + + + + + x has_fused_element y iff: there exists some z : x has_part z, z homologous_to y, and y is a distinct element, the boundary between x and z is largely fiat + has fused element + + + + + + + + + + + + A relationship that holds between two material entities in a system of connected structures, where the branching relationship holds based on properties of the connecting network. + in branching relationship with + + + + + + + + + x tributary_of y if and only if x a channel for the flow of a substance into y, where y is larger than x. If x and y are hydrographic features, then y is the main stem of a river, or a lake or bay, but not the sea or ocean. If x and y are anatomical, then y is a vein. + tributary of + + + + + + + + + + + + + + + x spatially_coextensive_with y if and inly if x and y have the same location + spatially coextensive with + + + + + + + + + + + + + + + + + x is a branching part of y if and only if x is part of y and x is connected directly or indirectly to the main stem of y + branching part of + + + + + + + + + x has developmental potential involving y iff x is capable of a developmental process with output y. y may be the successor of x, or may be a different structure in the vicinity (as for example in the case of developmental induction). + has developmental potential involving + + + + + + + + + x has potential to developmentrally contribute to y iff x developmentally contributes to y or x is capable of developmentally contributing to y + has potential to developmentally contribute to + + + + + + + + + x has potential to developmentally induce y iff x developmentally induces y or x is capable of developmentally inducing y + has potential to developmentally induce + + + + + + + + + x has the potential to develop into y iff x develops into y or if x is capable of developing into y + has potential to develop into + + + + + + + + + x has potential to directly develop into y iff x directly develops into y or x is capable of directly developing into y + has potential to directly develop into + + + + @@ -951,6 +2085,16 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + p contributes to morphology of w if and only if a change in the morphology of p entails a change in the morphology of w. Examples: every skull contributes to morphology of the head which it is a part of. Counter-example: nuclei do not generally contribute to the morphology of the cell they are part of, as they are buffered by cytoplasm. + contributes to morphology of + + + + @@ -985,66 +2129,220 @@ A continuant cannot have an occurrent as part: use 'participates in'. - Holds between molecular entities A and B where A can physically interact with B and in doing so regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. - molecularly controls - activity directly regulates activity of + Holds between molecular entities A and B where A can physically interact with B and in doing so regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A regulates the kinase activity of B. + molecularly controls + activity directly regulates activity of + + + + + + + + + + + + + + Holds between molecular entities A and B where A can physically interact with B and in doing so negatively regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. + molecularly decreases activity of + activity directly negatively regulates activity of + + + + + + + + + + + + + + Holds between molecular entities A and B where A can physically interact with B and in doing so positively regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. + molecularly increases activity of + activity directly positively regulates activity of + + + + + + + + + A relationship that holds between a disease and organism + transmitted by + + + + + + + + + x composed_primarily_of y if and only if more than half of the mass of x is made from y or units of the same type as y. + composed primarily of + + + + + + + + + + + + + + p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. + has part that occurs in + + + + + + + + + + relation between structure and stage + + + + + + + + + + + + + + x existence starts during y if and only if the time point at which x starts is after or equivalent to the time point at which y starts and before or equivalent to the time point at which y ends. Formally: x existence starts during y iff α(x) >= α(y) & α(x) <= ω(y). + existence starts during + + + + + + + + + x starts ends with y if and only if the time point at which x starts is equivalent to the time point at which y starts. Formally: x existence starts with y iff α(x) = α(y). + existence starts with + + + + + + + + + x existence overlaps y if and only if either (a) the start of x is part of y or (b) the end of x is part of y. Formally: x existence starts and ends during y iff (α(x) >= α(y) & α(x) <= ω(y)) OR (ω(x) <= ω(y) & ω(x) >= α(y)) + existence overlaps + + + + + + + + + + + + + + x existence ends during y if and only if the time point at which x ends is before or equivalent to the time point at which y ends and after or equivalent to the point at which y starts. Formally: x existence ends during y iff ω(x) <= ω(y) and ω(x) >= α(y). + existence ends during - + - - - - - - - - Holds between molecular entities A and B where A can physically interact with B and in doing so negatively regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A negatively regulates the kinase activity of B. - molecularly decreases activity of - activity directly negatively regulates activity of + + + x existence ends with y if and only if the time point at which x ends is equivalent to the time point at which y ends. Formally: x existence ends with y iff ω(x) = ω(y). + existence ends with - + - - - - - - - - Holds between molecular entities A and B where A can physically interact with B and in doing so positively regulates a process that B is capable of. For example, A and B may be gene products and binding of B by A positively regulates the kinase activity of B. - molecularly increases activity of - activity directly positively regulates activity of + + + + x transformation of y if x is the immediate transformation of y, or is linked to y through a chain of transformation relationships + transformation of - + - - - A relationship that holds between a disease and organism - transmitted by + + + + x immediate transformation of y iff x immediately succeeds y temporally at a time boundary t, and all of the matter present in x at t is present in y at t, and all the matter in y at t is present in x at t + immediate transformation of - + - - - + + - - + + - p has part that occurs in c if and only if there exists some p1, such that p has_part p1, and p1 occurs in c. - has part that occurs in + + + + + + + + + + + + + x existence starts during or after y if and only if the time point at which x starts is after or equivalent to the time point at which y starts. Formally: x existence starts during or after y iff α (x) >= α (y). + existence starts during or after + + + + + + + + + + + + + + + + + + + + + + + + + x existence ends during or before y if and only if the time point at which x ends is before or equivalent to the time point at which y ends. + existence ends during or before @@ -1072,6 +2370,14 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + depends on + + + + @@ -1083,6 +2389,59 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + + + + s determined by f if and only if s is a type of system, and f is a material entity that is part of s, such that f exerts a strong causal influence on the functioning of s, and the removal of f would cause the collapse of s. + determined by + + + + + + + + + inverse of determined by + determines + + + + + + + + + + + + + + + + s 'determined by part of' w if and only if there exists some f such that (1) s 'determined by' f and (2) f part_of w, or f=w. + determined by part of + + + + + + + + + + A relation between a segment or subdivision of an organism and the maximal subdivision of material entities that provides structural support for that segment or subdivision. + has skeleton + + + + @@ -1113,6 +2472,58 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + A relation that holds between elements of a musculoskeletal system or its analogs. + biomechanically related to + + + + + + + + + m1 has_muscle_antagonist m2 iff m1 has_muscle_insertion s, m2 has_muscle_insection s, m1 acts in opposition to m2, and m2 is responsible for returning the structure to its initial position. + has muscle antagonist + + + + + + + + + inverse of branching part of + has branching part + + + + + + + + + + x lumen_of y iff x is the space or substance that is part of y and does not cross any of the inner membranes or boundaries of y that is maximal with respect to the volume of the convex hull. + lumen of + + + + + + + + + + s is luminal space of x iff s is lumen_of x and s is an immaterial entity + luminal space of + + + + @@ -1123,6 +2534,18 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + inverse of has skeleton + skeleton of + + + + @@ -1244,6 +2667,35 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + + + + + + + + + a produces b if some process that occurs_in a has_output b, where a and b are material entities. Examples: hybridoma cell line produces monoclonal antibody reagent; chondroblast produces avascular GAG-rich matrix. + produces + + + + + + + + + + a produced_by b iff some process that occurs_in b has_output a. + produced by + + + + @@ -1586,6 +3038,7 @@ A continuant cannot have an occurrent as part: use 'participates in'. + disposition @@ -1621,16 +3074,48 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + A realizable entity the manifestation of which brings about some result or end that is not essential to a continuant in virtue of the kind of thing that it is but that can be served or participated in by that kind of continuant in some kinds of natural, social or institutional contexts. + role + + + + + + + + + + + An independent continuant that is spatially extended whose identity is independent of that of other entities and can be maintained through time. material entity + + + + + + + + + + + immaterial entity + + + + @@ -1649,6 +3134,63 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + multi-cell-part structure + + + + + + + + + neuron projection bundle + + + + + + + + + + + + + + + multicellular anatomical structure + + + + + + + + + + + + + + + cell + + + + + + + + + neuron + + + + @@ -1681,6 +3223,99 @@ A continuant cannot have an occurrent as part: use 'participates in'. + + + + + quality + + + + + + + + + + morphology + + + + + + + + + shape + + + + + + + + + structure + + + + + + + + + branched + + + + + + + + + physical object quality + + + + + + + + + branchiness + + + + + + + + + laminar + + + + + + + + + A process occurring within or in the vicinity of an organism that exerts some causal influence on the organism via the interaction between an exposure stimulus and an exposure receptor. The exposure stimulus may be a process, material entity or condition (for example, lack of nutrients). The exposure receptor can be an organism, organism population or a part of an organism. + exposure event or process + + + + + + + + + A material entity consisting of multiple components that are causally integrated. + system + + + + + + + + + + + + + + + + + + + + A layer of thin, concentrically arranged cells with interspersed collagen that lies within the epineurium. (Nolte, J., The Human Brain 3rd edition) + perineurium + + + + @@ -3671,6 +3693,28 @@ + + + + + + + + + + + + + + + + + A loose connective tissue sheath surrounding each peripheral nerve. Composed mainly of colagen and fibroblasts, it forms a substantial covering over nerve trunks, then thins to an incomplete layer around smaller branches near their terminations. The epineurium is continuous centrally with the dura. Peripherally, it usually ends near the termination of a nerve fiber, but it may continue as the capsule of Meissner corpuscles and a few other encapsulated endings. Nolte, J. The Human Brain 3rd edition + epineurium + + + + @@ -14255,6 +14299,59 @@ + + + + + + + + + + + the parenchymatous tissue network of the spleen that consists of loose plates or cords (sinuses) infiltrated with red blood cells where most of the blood filtration occurs and degenerate erythrocytes are removed from the circulation + pulpa rubra + red pulp + spleen red pulp + splenic red pulp + pulpa splenica + red pulp of spleen + + + + + + + + + + + + + + + + + + + + + + + + + + + + the zone between the red and white pulp of the spleen containing numerous macrophages and lymphocytes, and a rich plexus of sinusoids supplied by white pulp arterioles carrying blood-borne antigens + marginal zone + junctional zone of spleen + spleen marginal zone + marginal zone of spleen + + + + @@ -28828,6 +28925,27 @@ + + + + + + + + + + + the parenchymatous tissue of the spleen that surrounds splenic blood vessels, consists of compact masses of lymphatic cells and is where foreign material removed from the blood is used to initiate an immune reaction that results in the production of antibodies + pulpa alba + spleen white pulp + splenic white pulp + white pulp + noduli lymphoidei splenici + white pulp of spleen + + + + @@ -33048,6 +33166,50 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The small terminal dilation of the alveolar ducts around which the alveoli form pocket-like clusters + pulmonary alveolar sac + sacculus alveolaris + air sac + alveolar sac + + + + @@ -34828,6 +34990,54 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Spherical outcropping of the respiratory bronchioles and primary site of gas exchange with the blood. Alveoli are particular to mammalian lungs. Different structures are involved in gas exchange in other vertebrates[WP]. + alveolus + alveolus pulmonis + lung alveolus + pulmonary alveolus + respiratory alveolus + alveoli + alveolus pulmonis + respiratory alveoli + alveolus of lung + + + + @@ -42901,6 +43111,60 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A sac-like structure that is found in the mature gland[GO]. + alveolus of lactiferous gland + alveolus of lobe of breast + alveolus of lobe of mammary gland + alveolus of mammary gland + lactiferous alveolus + lactiferous gland alveolus + lobe of breast alveolus + lobe of mammary gland alveolus + mammary alveolus + mammary alveoli + mammary gland alveolus + + + + + + + + + organ part that has the form of a hollow cavity[WP]. + alveolus + + + + @@ -57296,6 +57560,36 @@ + + + + + + + + + + + + + + + + + + + + + + + wide vessels in the spleen that drain into trabecular veins[WP]. + sinusoidal blood vessel of spleen + sinusoid of red pulp of spleen + splenic sinusoid + + + + @@ -71385,6 +71679,54 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The epithelial layer of the alveoli[MP]. The layer of cells covering the lining of the tiny air sacs at the end of the bronchioles[BTO]. + alveolus epithelial tissue + alveolus epithelium + epithelial tissue of alveolus + epithelium of alveolus + epithelium of pulmonary alveolus + pulmonary alveolar epithelium + pulmonary alveolus epithelium + alveolar epithelium + pulmonary alveolus epithelium + + + + @@ -71981,6 +72323,63 @@ + + + + + + + + + + + + + + + + + + + + + + An alveolus that is part of a right lung [Automatically generated definition]. + alveolus of right lung + right lung alveolus + + + + + + + + + + + + + + + + + + + + + + + + + + An alveolus that is part of a left lung [Automatically generated definition]. + alveolus of left lung + alveolus of lobe of left lung + left lung alveolus + + + + @@ -72430,6 +72829,107 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A the thin septum that separates adjacent pulmonary alveoli, containing connective tissue constituents of the respiratory tissue and the capillary network of the blood supply of the lung. + alveolar septum + septum interalveolare + interalveolar septum + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A wall that contains the alveoli + pulmonary alveolar wall + pulmonary interalveolar septum + wall of pulmonary alveolus + alveolus wall + alveolar wall + + + + + + + + + + + + + + + + + + + + + + + + + + Alveolar smooth muscle is a type of non-striated muscle, found within the walls of the alveolus + alveolar smooth muscle + + + + @@ -90696,6 +91196,75 @@ + + + + + + + + + + + + + + + + + + System pertaining to a bronchus and alveoli. + pulmonary alveolar system + bronchoalveolar system + alveolar system + + + + + + + + + + + + + + + + + + + + + + left lung alveolar system + + + + + + + + + + + + + + + + + + + + + + right lung alveolar system + + + + @@ -94299,6 +94868,38 @@ + + + + + + + + + + + + The distal part of adenohypophysis: the part that makes up the main body of the gland. + DHP + pars anterior + distal part of hypophysis + pars anterior of adenohypophysis + pars distalis (glandula pituitaria) + pars distalis adenohypophysis + pars distalis of anterior lobe of pituitary gland + pars glandularis of adenohypophysis + anterior lobe + distal part of the hypophysis + pars distalis + pars distalis (hypophysis) + pars distalis adenohypophyseos + pars distalis lobi anterioris hypophyseos + pars glandularis + pars distalis of adenohypophysis + + + + @@ -100135,6 +100736,15 @@ + + + + + microvascular endothelium + + + + @@ -101656,6 +102266,54 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + The distinguishing cell types of the lung alveolar tissue, including pulmonary epithelial cells (pneumocytes), alveolar capillary endothelial cells, interstitial cells (fibroblasts) and alveolar macrophages + pulmonary alveolar parenchyma + + + + + + + + + The part of the airway consisting of a respiratory bronchiole and all of its branches + acinus pulmonaris + arbor alveolaris + lobulus pulmonis primarius + primary pulmonary lobule + respiratory lobule + pulmonary acinus + + + + @@ -145506,6 +146164,26 @@ + + + + + + + + + + + + The parenchyma of the spleen, consisting of lymphocytes and macrophages. It lies between the splenic trabecula. Red pulp is the part suffused with blood and white pulp consists of areas of lymphatic tissue where there are sleeves of lymphocytes and macrophages. + Malpighian corpuscles + pulp of spleen + splenic pulp + spleen pulp + + + + diff --git a/src/ontology/reports/release/semantic-xref-pairs.tsv b/src/ontology/reports/release/semantic-xref-pairs.tsv index f273a4dceb..4f8f099df4 100644 --- a/src/ontology/reports/release/semantic-xref-pairs.tsv +++ b/src/ontology/reports/release/semantic-xref-pairs.tsv @@ -15,7 +15,7 @@ MONDO:0000004 adrenocortical insufficiency GARD GARD:0006722 one_to_one MONDO:0000004 adrenocortical insufficiency GO GO:0034651 disease_disrupts MONDO:0000004 adrenocortical insufficiency ICD9 ICD9:255.4,ICD9:255.41 inexact MONDO:0000004 adrenocortical insufficiency MESH MESH:D000309 one_to_one -MONDO:0000004 adrenocortical insufficiency MONDO MONDO:0002816,MONDO:0021195 subclass +MONDO:0000004 adrenocortical insufficiency MONDO MONDO:0002816 subclass MONDO:0000004 adrenocortical insufficiency NCIT NCIT:C26691 one_to_one MONDO:0000004 adrenocortical insufficiency SCTID SCTID:386584007 one_to_one MONDO:0000004 adrenocortical insufficiency UMLS UMLS:C0405580 one_to_one @@ -230,7 +230,7 @@ MONDO:0000141 mosaic variegated aneuploidy syndrome SCTID SCTID:700056005 one_to MONDO:0000141 mosaic variegated aneuploidy syndrome UMLS UMLS:C1850343 one_to_one MONDO:0000144 pregnancy loss, recurrent, susceptibility DC DC:0000580 one_to_one MONDO:0000144 pregnancy loss, recurrent, susceptibility GO GO:0007565 disease_disrupts -MONDO:0000144 pregnancy loss, recurrent, susceptibility MONDO MONDO:0020573,MONDO:0021195 subclass +MONDO:0000144 pregnancy loss, recurrent, susceptibility MONDO MONDO:0020573 subclass MONDO:0000147 polyposis DC DC:0000587 one_to_one MONDO:0000147 polyposis MONDO MONDO:0021075 subclass MONDO:0000147 polyposis NCIT NCIT:C36180 has_finding @@ -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:0003847,MONDO:0015955,MONDO:0021195,MONDO:0100033 subclass +MONDO:0000188 GLUT1 deficiency syndrome MONDO MONDO:0003847,MONDO:0015955,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 @@ -365,6 +365,7 @@ MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism DC DC MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism MONDO MONDO:0001149,MONDO:0018320 subclass MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism OMIM OMIM:616033 one_to_one MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism UMLS UMLS:C4014997 one_to_one +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 @@ -488,7 +489,7 @@ MONDO:0000241 Keshan disease GARD GARD:0008761 one_to_one 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,MONDO:0021195 subclass +MONDO:0000241 Keshan disease MONDO MONDO:0004994,MONDO:0005721,MONDO:0006873,MONDO:0015576 subclass 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 @@ -767,6 +768,7 @@ MONDO:0000330 endemic typhus MONDO MONDO:0001246,MONDO:0015156 subclass MONDO:0000330 endemic typhus MedDRA MedDRA:10028282 one_to_one MONDO:0000330 endemic typhus NCBITaxon NCBITaxon:42862,NCBITaxon:785 realized_in_response_to_stimulus MONDO:0000330 endemic typhus NCBITaxon NCBITaxon:163159 transmitted_by +MONDO:0000330 endemic typhus NCIT NCIT:C84688 one_to_one MONDO:0000330 endemic typhus Orphanet Orphanet:83315 one_to_one MONDO:0000330 endemic typhus UMLS UMLS:CN206047 one_to_one MONDO:0000331 Rickettsia helvetica spotted fever DOID DOID:0050484 one_to_one @@ -887,6 +889,7 @@ MONDO:0000363 gummatous syphilis MONDO MONDO:0004497 subclass MONDO:0000365 primary congenital glaucoma (disease) DOID DOID:0050593 one_to_one MONDO:0000365 primary congenital glaucoma (disease) HP HP:0008007 one_to_one 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 @@ -908,12 +911,12 @@ MONDO:0000368 extrapulmonary tuberculosis SCTID SCTID:423997002 one_to_one MONDO:0000368 extrapulmonary tuberculosis UMLS UMLS:C0679362 one_to_one MONDO:0000369 abdominal tuberculosis DOID DOID:0050599 one_to_one MONDO:0000369 abdominal tuberculosis ICD9 ICD9:014.80 inexact -MONDO:0000369 abdominal tuberculosis MONDO MONDO:0000368,MONDO:0018076,MONDO:0021166,MONDO:0024505 subclass +MONDO:0000369 abdominal tuberculosis MONDO MONDO:0000368,MONDO:0018076,MONDO:0021166,MONDO:0044965 subclass MONDO:0000369 abdominal tuberculosis SCTID SCTID:447330002 one_to_one MONDO:0000369 abdominal tuberculosis UBERON UBERON:0000916 disease_has_inflammation_site MONDO:0000369 abdominal tuberculosis UMLS UMLS:C0740652 one_to_one MONDO:0000371 oral cavity carcinoma in situ DOID DOID:0050610 one_to_one -MONDO:0000371 oral cavity carcinoma in situ MONDO MONDO:0002038,MONDO:0004647,MONDO:0005515,MONDO:0006181 subclass +MONDO:0000371 oral cavity carcinoma in situ MONDO MONDO:0004647,MONDO:0044925 subclass MONDO:0000371 oral cavity carcinoma in situ NCIT NCIT:C4587 one_to_one MONDO:0000371 oral cavity carcinoma in situ SCTID SCTID:92660005 one_to_one MONDO:0000371 oral cavity carcinoma in situ UBERON UBERON:0000167 disease_has_location @@ -1052,7 +1055,7 @@ MONDO:0000402 small cell carcinoma SCTID SCTID:11010461000119101 one_to_one MONDO:0000402 small cell carcinoma UMLS UMLS:C0334239 one_to_one MONDO:0000405 anal canal cancer DOID DOID:0050688 one_to_one MONDO:0000405 anal canal cancer ICD9 ICD9:154.2 inexact -MONDO:0000405 anal canal cancer MONDO MONDO:0004992,MONDO:0005814,MONDO:0024505,MONDO:0024634 subclass +MONDO:0000405 anal canal cancer MONDO MONDO:0004992,MONDO:0005814,MONDO:0024634 subclass MONDO:0000405 anal canal cancer SCTID SCTID:363352004 one_to_one MONDO:0000405 anal canal cancer UBERON UBERON:0000159 disease_has_location MONDO:0000405 anal canal cancer UMLS UMLS:C0153445 one_to_one @@ -1153,6 +1156,7 @@ MONDO:0000432 lymphoplasmacytic lymphoma MONDO MONDO:0000432 disease_has_feature MONDO:0000432 lymphoplasmacytic lymphoma MONDO MONDO:0004095 subclass MONDO:0000432 lymphoplasmacytic lymphoma NCIT NCIT:C35984,NCIT:C36020,NCIT:C50764 has_finding MONDO:0000432 lymphoplasmacytic lymphoma NCIT NCIT:C3212 one_to_one +MONDO:0000432 lymphoplasmacytic lymphoma ONCOTREE ONCOTREE:LPL one_to_one MONDO:0000437 cerebellar ataxia COHD COHD:435242 one_to_one MONDO:0000437 cerebellar ataxia DOID DOID:0050753 one_to_one MONDO:0000437 cerebellar ataxia GARD GARD:0012060 one_to_one @@ -1161,6 +1165,7 @@ MONDO:0000437 cerebellar ataxia HP HP:0001251 disease_has_major_feature MONDO:0000437 cerebellar ataxia ICD9 ICD9:334.3 inexact MONDO:0000437 cerebellar ataxia MESH MESH:D002524 one_to_one MONDO:0000437 cerebellar ataxia MONDO MONDO:0002254,MONDO:0002427,MONDO:0015143,MONDO:0017118 subclass +MONDO:0000437 cerebellar ataxia NCIT NCIT:C82341 one_to_one MONDO:0000437 cerebellar ataxia Orphanet Orphanet:102002 one_to_one MONDO:0000437 cerebellar ataxia SCTID SCTID:85102008 one_to_one MONDO:0000437 cerebellar ataxia UBERON UBERON:0002037 disease_has_basis_in_dysfunction_of @@ -1187,6 +1192,7 @@ MONDO:0000448 paraganglioma MESH MESH:D010235 one_to_one MONDO:0000448 paraganglioma MONDO MONDO:0002366,MONDO:0018497,MONDO:0019496,MONDO:0020036,MONDO:0021635 subclass MONDO:0000448 paraganglioma NCIT NCIT:C3308 one_to_one MONDO:0000448 paraganglioma OMIMPS OMIMPS:168000 one_to_one +MONDO:0000448 paraganglioma ONCOTREE ONCOTREE:PGNG one_to_one MONDO:0000448 paraganglioma SCTID SCTID:127027008 one_to_one MONDO:0000448 paraganglioma UBERON UBERON:0002410 disease_has_location MONDO:0000448 paraganglioma UMLS UMLS:C0030421 one_to_one @@ -1324,6 +1330,7 @@ MONDO:0000474 pericardium disease UMLS UMLS:C0265122 one_to_one MONDO:0000476 generalized dystonia DOID DOID:0050835 one_to_one MONDO:0000476 generalized dystonia ICD10 ICD10:G24.1,ICD10:G24.2 inexact MONDO:0000476 generalized dystonia ICD9 ICD9:333.6,ICD9:333.8,ICD9:333.89 inexact +MONDO:0000476 generalized dystonia MESH MESH:D004422 one_to_one MONDO:0000476 generalized dystonia MONDO MONDO:0003441 subclass MONDO:0000476 generalized dystonia SCTID SCTID:425492002 one_to_one MONDO:0000477 focal dystonia DOID DOID:0050836 one_to_one @@ -1339,7 +1346,7 @@ MONDO:0000479 segmental dystonia UMLS UMLS:C1997740 one_to_one MONDO:0000480 anismus DOID DOID:0050839 one_to_one MONDO:0000480 anismus GO GO:0030421 disease_disrupts MONDO:0000480 anismus ICD9 ICD9:569.49 inexact -MONDO:0000480 anismus MONDO MONDO:0000477,MONDO:0020120,MONDO:0024505 subclass +MONDO:0000480 anismus MONDO MONDO:0000477,MONDO:0020120 subclass MONDO:0000480 anismus SCTID SCTID:83605009 one_to_one MONDO:0000480 anismus UBERON UBERON:0004832 disease_has_location MONDO:0000480 anismus UMLS UMLS:C0267601 one_to_one @@ -1362,6 +1369,7 @@ MONDO:0000485 spasmodic dystonia DOID DOID:0050844 one_to_one MONDO:0000485 spasmodic dystonia GARD GARD:0007668 one_to_one MONDO:0000485 spasmodic dystonia ICD9 ICD9:478.79 inexact MONDO:0000485 spasmodic dystonia MONDO MONDO:0000477 subclass +MONDO:0000485 spasmodic dystonia Orphanet Orphanet:93961 one_to_one MONDO:0000485 spasmodic dystonia SCTID SCTID:3331000119108 one_to_one MONDO:0000485 spasmodic dystonia UMLS UMLS:C1963946 one_to_one MONDO:0000486 craniofacial dystonia DOID DOID:0050845 one_to_one @@ -1390,7 +1398,7 @@ MONDO:0000490 glomerulosclerosis NCIT NCIT:C120888 one_to_one MONDO:0000490 glomerulosclerosis SCTID SCTID:197661001 one_to_one MONDO:0000490 glomerulosclerosis UMLS UMLS:C0178664 one_to_one MONDO:0000491 limb ischemia DOID DOID:0050852 one_to_one -MONDO:0000491 limb ischemia MONDO MONDO:0005053,MONDO:0024505 subclass +MONDO:0000491 limb ischemia MONDO MONDO:0005053,MONDO:0044967 subclass MONDO:0000491 limb ischemia SCTID SCTID:21631000119105 one_to_one MONDO:0000491 limb ischemia UBERON UBERON:0002101 disease_has_location MONDO:0000491 limb ischemia UMLS UMLS:C2945695 one_to_one @@ -1445,11 +1453,12 @@ MONDO:0000502 villous adenoma MONDO MONDO:0004972,MONDO:0024276 subclass MONDO:0000502 villous adenoma NCIT NCIT:C36121,NCIT:C40560 has_finding MONDO:0000502 villous adenoma NCIT NCIT:C7399 one_to_one MONDO:0000502 villous adenoma UMLS UMLS:C0206674 one_to_one -MONDO:0000503 in situ pulmonary adenocarcinoma DOID DOID:0050870 one_to_one -MONDO:0000503 in situ pulmonary adenocarcinoma MONDO MONDO:0003218,MONDO:0004647,MONDO:0004660,MONDO:0004970,MONDO:0005061 subclass -MONDO:0000503 in situ pulmonary adenocarcinoma NCIT NCIT:C8748 one_to_one -MONDO:0000503 in situ pulmonary adenocarcinoma UBERON UBERON:0002048 disease_has_location -MONDO:0000503 in situ pulmonary adenocarcinoma UMLS UMLS:C0854971 one_to_one +MONDO:0000503 lung adenocarcinoma in situ DOID DOID:0050870 one_to_one +MONDO:0000503 lung adenocarcinoma in situ MONDO MONDO:0003218,MONDO:0004660,MONDO:0005061 subclass +MONDO:0000503 lung adenocarcinoma in situ NCIT NCIT:C136486,NCIT:C8748 inexact +MONDO:0000503 lung adenocarcinoma in situ ONCOTREE ONCOTREE:LAIS one_to_one +MONDO:0000503 lung adenocarcinoma in situ UBERON UBERON:0002048 disease_has_location +MONDO:0000503 lung adenocarcinoma in situ UMLS UMLS:C0854971 one_to_one MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia DC DC:0000545 one_to_one 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 @@ -1477,14 +1486,14 @@ MONDO:0000515 bone chondrosarcoma DOID DOID:0050897 one_to_one MONDO:0000515 bone chondrosarcoma MONDO MONDO:0002129,MONDO:0008977 subclass MONDO:0000515 bone chondrosarcoma UBERON UBERON:0002481 disease_has_location MONDO:0000516 phalanx chondroma DOID DOID:0050898 one_to_one -MONDO:0000516 phalanx chondroma MONDO MONDO:0000631,MONDO:0002360,MONDO:0024505 subclass +MONDO:0000516 phalanx chondroma MONDO MONDO:0000631,MONDO:0002360,MONDO:0044967 subclass MONDO:0000516 phalanx chondroma UBERON UBERON:0003221 disease_has_location MONDO:0000517 brain stem medulloblastoma DOID DOID:0050899 one_to_one MONDO:0000517 brain stem medulloblastoma MONDO MONDO:0002912 excluded_subClassOf MONDO:0000517 brain stem medulloblastoma MONDO MONDO:0007959,MONDO:0021228 subclass MONDO:0000517 brain stem medulloblastoma UBERON UBERON:0002298 disease_has_location MONDO:0000518 sacrum chordoma DOID DOID:0050900 one_to_one -MONDO:0000518 sacrum chordoma MONDO MONDO:0000812,MONDO:0002894,MONDO:0008978,MONDO:0024505 subclass +MONDO:0000518 sacrum chordoma MONDO MONDO:0000812,MONDO:0002894,MONDO:0008978,MONDO:0044965 subclass MONDO:0000518 sacrum chordoma SCTID SCTID:447730004 one_to_one MONDO:0000518 sacrum chordoma UBERON UBERON:0003690 disease_has_location MONDO:0000518 sacrum chordoma UMLS UMLS:C3164279 one_to_one @@ -1497,7 +1506,7 @@ MONDO:0000520 parietal lobe ependymal tumor NCIT NCIT:C131575 one_to_one MONDO:0000520 parietal lobe ependymal tumor UBERON UBERON:0001872 disease_has_location MONDO:0000520 parietal lobe ependymal tumor UMLS UMLS:C4330935 one_to_one MONDO:0000521 salivary gland carcinoma DOID DOID:0050904 one_to_one -MONDO:0000521 salivary gland carcinoma MONDO MONDO:0002038,MONDO:0004669,MONDO:0004993,MONDO:0006181 subclass +MONDO:0000521 salivary gland carcinoma MONDO MONDO:0004669,MONDO:0004993,MONDO:0044925 subclass MONDO:0000521 salivary gland carcinoma NCIT NCIT:C9272 one_to_one MONDO:0000521 salivary gland carcinoma ONCOTREE ONCOTREE:SACA one_to_one MONDO:0000521 salivary gland carcinoma UBERON UBERON:0001044 disease_has_location @@ -1536,11 +1545,13 @@ MONDO:0000534 trachea mucoepidermoid carcinoma UMLS UMLS:C3873401 one_to_one MONDO:0000535 tonsil squamous cell carcinoma DOID DOID:0050920 one_to_one MONDO:0000535 tonsil squamous cell carcinoma MONDO MONDO:0005096,MONDO:0020008,MONDO:0021337,MONDO:0044704 subclass MONDO:0000535 tonsil squamous cell carcinoma UBERON UBERON:0002372 disease_has_location -MONDO:0000536 pharynx squamous cell carcinoma DOID DOID:0050921 one_to_one -MONDO:0000536 pharynx squamous cell carcinoma MONDO MONDO:0005096,MONDO:0010150,MONDO:0019997,MONDO:0020000,MONDO:0020033,MONDO:0021345 subclass -MONDO:0000536 pharynx squamous cell carcinoma SCTID SCTID:408649007 one_to_one -MONDO:0000536 pharynx squamous cell carcinoma UBERON UBERON:0006562 disease_has_location -MONDO:0000536 pharynx squamous cell carcinoma UMLS UMLS:C1319317 one_to_one +MONDO:0000536 pharyngeal squamous cell carcinoma DOID DOID:0050921 one_to_one +MONDO:0000536 pharyngeal squamous cell carcinoma EFO EFO:1001965 one_to_one +MONDO:0000536 pharyngeal squamous cell carcinoma MONDO MONDO:0005096,MONDO:0005517,MONDO:0010150,MONDO:0019997,MONDO:0020000,MONDO:0020033,MONDO:0021345 subclass +MONDO:0000536 pharyngeal squamous cell carcinoma NCIT NCIT:C102872 one_to_one +MONDO:0000536 pharyngeal squamous cell carcinoma SCTID SCTID:408649007 one_to_one +MONDO:0000536 pharyngeal squamous cell carcinoma UBERON UBERON:0001042,UBERON:0006562 disease_has_location +MONDO:0000536 pharyngeal squamous cell carcinoma UMLS UMLS:C1319317 one_to_one MONDO:0000539 striated muscle rhabdoid tumor DOID DOID:0050924 one_to_one MONDO:0000539 striated muscle rhabdoid tumor MONDO MONDO:0002728,MONDO:0003939,MONDO:0005864 subclass MONDO:0000539 striated muscle rhabdoid tumor UBERON UBERON:0002036 disease_has_location @@ -1599,6 +1610,7 @@ MONDO:0000553 uterine corpus endometrial carcinoma UBERON UBERON:0009853 disease MONDO:0000554 endocervical adenocarcinoma DOID DOID:0050940 one_to_one MONDO:0000554 endocervical adenocarcinoma MONDO MONDO:0004259,MONDO:0004970,MONDO:0005153 subclass MONDO:0000554 endocervical adenocarcinoma NCIT NCIT:C127907 one_to_one +MONDO:0000554 endocervical adenocarcinoma ONCOTREE ONCOTREE:ECAD one_to_one MONDO:0000554 endocervical adenocarcinoma SCTID SCTID:123842006 one_to_one MONDO:0000554 endocervical adenocarcinoma UBERON UBERON:0000458 disease_has_location MONDO:0000554 endocervical adenocarcinoma UMLS UMLS:C1263762,UMLS:C4289591 inexact @@ -1610,6 +1622,7 @@ MONDO:0000557 hereditary ataxia MONDO MONDO:0000437 subclass MONDO:0000557 hereditary ataxia Orphanet Orphanet:183518 one_to_one MONDO:0000561 spinocerebellar ataxia type 16 DOID DOID:0050966 one_to_one MONDO:0000561 spinocerebellar ataxia type 16 MONDO MONDO:0020380 subclass +MONDO:0000561 spinocerebellar ataxia type 16 NCIT NCIT:C150250 one_to_one MONDO:0000561 spinocerebellar ataxia type 16 Orphanet Orphanet:98770 one_to_one MONDO:0000561 spinocerebellar ataxia type 16 UMLS UMLS:CN229296 one_to_one MONDO:0000563 GRID2-related autosomal dominant spinocerebellar ataxia DOID DOID:0050988 one_to_one @@ -1705,8 +1718,9 @@ MONDO:0000603 autoimmune disease of cardiovascular system UBERON UBERON:0004535 MONDO:0000605 hypersensitivity reaction disease DOID DOID:0060056 one_to_one MONDO:0000605 hypersensitivity reaction disease EFO EFO:1002003 one_to_one MONDO:0000605 hypersensitivity reaction disease GO GO:0002524 disease_has_basis_in_disruption_of -MONDO:0000605 hypersensitivity reaction disease MONDO MONDO:0005046,MONDO:0021195 subclass +MONDO:0000605 hypersensitivity reaction disease MONDO MONDO:0005046 subclass MONDO:0000605 hypersensitivity reaction disease NCIT NCIT:C3114 one_to_one +MONDO:0000605 hypersensitivity reaction disease SCTID SCTID:473010000 one_to_one MONDO:0000606 gluten allergy DOID DOID:0060057 one_to_one MONDO:0000606 gluten allergy FOODON FOODON:03420177 realized_in_response_to_stimulus MONDO:0000606 gluten allergy MONDO MONDO:0002497,MONDO:0005271 subclass @@ -1884,7 +1898,7 @@ MONDO:0000651 thoracic disease DOID DOID:0060118 one_to_one MONDO:0000651 thoracic disease MESH MESH:D013896 one_to_one MONDO:0000651 thoracic disease MONDO MONDO:0000001,MONDO:0024505 subclass MONDO:0000651 thoracic disease NCIT NCIT:C35742 one_to_one -MONDO:0000651 thoracic disease SCTID SCTID:118946009 one_to_one +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 @@ -2095,6 +2109,7 @@ MONDO:0000709 Crohn ileitis ICD9 ICD9:558.9 inexact MONDO:0000709 Crohn ileitis MESH MESH:D007079 one_to_one MONDO:0000709 Crohn ileitis MONDO MONDO:0005011,MONDO:0005539 subclass MONDO:0000709 Crohn ileitis MedDRA MedDRA:10021312 one_to_one +MONDO:0000709 Crohn ileitis NCIT NCIT:C35329 one_to_one MONDO:0000709 Crohn ileitis NDFRT NDFRT:N0000001662 one_to_one MONDO:0000709 Crohn ileitis SCTID SCTID:52457000 one_to_one MONDO:0000709 Crohn ileitis UBERON UBERON:0002116 disease_has_inflammation_site @@ -2413,13 +2428,13 @@ MONDO:0000799 crustacean allergy FOODON FOODON:00001792 realized_in_response_to_ MONDO:0000799 crustacean allergy MONDO MONDO:0000770,MONDO:0005271 subclass MONDO:0000800 brown shrimp allergy DOID DOID:0060525 one_to_one MONDO:0000800 brown shrimp allergy FOODON FOODON:03000003 realized_in_response_to_stimulus -MONDO:0000800 brown shrimp allergy MONDO MONDO:0000799,MONDO:0005271 subclass +MONDO:0000800 brown shrimp allergy MONDO MONDO:0000799,MONDO:0005271,MONDO:0005550 subclass MONDO:0000801 green mud crab allergy DOID DOID:0060526 one_to_one MONDO:0000801 green mud crab allergy FOODON FOODON:03000004 realized_in_response_to_stimulus -MONDO:0000801 green mud crab allergy MONDO MONDO:0000799,MONDO:0005271 subclass +MONDO:0000801 green mud crab allergy MONDO MONDO:0000799,MONDO:0005271,MONDO:0005550 subclass MONDO:0000802 Indian prawn allergy DOID DOID:0060527 one_to_one MONDO:0000802 Indian prawn allergy FOODON FOODON:03000005 realized_in_response_to_stimulus -MONDO:0000802 Indian prawn allergy MONDO MONDO:0000799,MONDO:0005271 subclass +MONDO:0000802 Indian prawn allergy MONDO MONDO:0000799,MONDO:0005271,MONDO:0005550 subclass MONDO:0000803 tiger prawn allergy DOID DOID:0060528 one_to_one MONDO:0000803 tiger prawn allergy MONDO MONDO:0000799,MONDO:0005271,MONDO:0005550 subclass MONDO:0000803 tiger prawn allergy NCBITaxon NCBITaxon:6687 realized_in_response_to_stimulus @@ -2456,6 +2471,7 @@ MONDO:0000812 vertebral column disease SCTID SCTID:699699005 one_to_one MONDO:0000812 vertebral column disease UBERON UBERON:0001130 disease_has_location MONDO:0000812 vertebral column disease UMLS UMLS:C0037933 one_to_one MONDO:0000813 cardiac tuberculosis DOID DOID:0060570 one_to_one +MONDO:0000813 cardiac tuberculosis EFO EFO:1001442 one_to_one MONDO:0000813 cardiac tuberculosis MESH MESH:D014381 one_to_one MONDO:0000813 cardiac tuberculosis MONDO MONDO:0018076,MONDO:0019996,MONDO:0021166 subclass MONDO:0000813 cardiac tuberculosis UBERON UBERON:0000948 disease_has_inflammation_site @@ -2481,9 +2497,6 @@ MONDO:0000820 cerebral cavernous malformation DOID DOID:0060669 one_to_one MONDO:0000820 cerebral cavernous malformation MONDO MONDO:0003241 excluded_subClassOf MONDO:0000820 cerebral cavernous malformation MONDO MONDO:0002320 subclass MONDO:0000820 cerebral cavernous malformation NCIT NCIT:C84626 one_to_one -MONDO:0000821 cerebral cavernous malformation 3 DOID DOID:0060671 one_to_one -MONDO:0000821 cerebral cavernous malformation 3 ICD10 ICD10:Q28.3 inexact -MONDO:0000821 cerebral cavernous malformation 3 MONDO MONDO:0007291 subclass MONDO:0000823 familial temporal lobe epilepsy 3 DOID DOID:0060750 one_to_one MONDO:0000823 familial temporal lobe epilepsy 3 MONDO MONDO:0005115 subclass MONDO:0000824 congenital diarrhea DC DC:0000503 one_to_one @@ -2514,7 +2527,7 @@ MONDO:0000831 thrombotic disease NCIT NCIT:C26891 one_to_one MONDO:0000831 thrombotic disease SCTID SCTID:439127006 one_to_one MONDO:0000833 bone remodeling disease DOID DOID:0080005 one_to_one MONDO:0000833 bone remodeling disease GO GO:0046849 disease_disrupts -MONDO:0000833 bone remodeling disease MONDO MONDO:0005381,MONDO:0021195 subclass +MONDO:0000833 bone remodeling disease MONDO MONDO:0005381 subclass MONDO:0000834 bone deterioration disease DOID DOID:0080007 one_to_one MONDO:0000834 bone deterioration disease MONDO MONDO:0000836 subclass MONDO:0000836 disease of bone structure DOID DOID:0080010 one_to_one @@ -2618,7 +2631,8 @@ MONDO:0000879 cutaneous candidiasis UBERON UBERON:0000014 disease_has_location MONDO:0000879 cutaneous candidiasis UMLS UMLS:C0006846 one_to_one MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 DOID DOID:0080164 one_to_one MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 HP HP:0001880 disease_has_major_feature -MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 MONDO MONDO:0005170 subclass +MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 MONDO MONDO:0005170 excluded_subClassOf +MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 MONDO MONDO:0044881 subclass MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 NCIT NCIT:C84270 one_to_one MONDO:0000881 myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 UMLS UMLS:C2827356 one_to_one MONDO:0000882 myeloid and lymphoid neoplasms associated with PDGFRA rearrangement DOID DOID:0080165 one_to_one @@ -2682,10 +2696,12 @@ MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy OMIM OM MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy Orphanet Orphanet:1496 one_to_one MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy SCTID SCTID:702439002 one_to_one MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy UMLS UMLS:C0795950 one_to_one +MONDO:0000902 agenesis of the corpus callosum with peripheral neuropathy http http://identifiers.org/hgnc/10914 disease_has_basis_in_dysfunction_of MONDO:0000903 myoclonus-dystonia syndrome DOID DOID:0090033 one_to_one MONDO:0000903 myoclonus-dystonia syndrome GARD GARD:0007139 one_to_one MONDO:0000903 myoclonus-dystonia syndrome ICD10 ICD10:G24.1 inexact MONDO:0000903 myoclonus-dystonia syndrome ICD9 ICD9:333.99 inexact +MONDO:0000903 myoclonus-dystonia syndrome MESH MESH:C536096 one_to_one MONDO:0000903 myoclonus-dystonia syndrome MONDO MONDO:0017651,MONDO:0018329 subclass MONDO:0000903 myoclonus-dystonia syndrome Orphanet Orphanet:36899 one_to_one MONDO:0000903 myoclonus-dystonia syndrome SCTID SCTID:439732004 one_to_one @@ -2696,14 +2712,16 @@ MONDO:0000904 complex cortical dysplasia with other brain malformations MONDO MO MONDO:0000904 complex cortical dysplasia with other brain malformations OMIMPS OMIMPS:614039 one_to_one MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 DOID DOID:0110084 one_to_one MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 ICD10 ICD10:I42.8 inexact -MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO MONDO:0016342 subclass +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 MONDO MONDO:0016342,MONDO:0016587 subclass MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 OMIM OMIM:615616 one_to_one MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 UMLS UMLS:C3810138 one_to_one +MONDO:0000908 arrhythmogenic right ventricular dysplasia 13 http http://identifiers.org/hgnc/2511 disease_has_basis_in_dysfunction_of MONDO:0000909 Bartter disease type 4B DOID DOID:0110146 one_to_one MONDO:0000909 Bartter disease type 4B ICD10 ICD10:E26.8 inexact MONDO:0000909 Bartter disease type 4B MONDO MONDO:0019524 subclass MONDO:0000909 Bartter disease type 4B OMIM OMIM:613090 one_to_one MONDO:0000909 Bartter disease type 4B UMLS UMLS:C2751312 one_to_one +MONDO:0000909 Bartter disease type 4B http http://identifiers.org/hgnc/2026,http://identifiers.org/hgnc/2027 disease_has_basis_in_dysfunction_of MONDO:0000910 retinitis pigmentosa 6 DOID DOID:0110413 one_to_one MONDO:0000910 retinitis pigmentosa 6 GARD GARD:0010377 one_to_one MONDO:0000910 retinitis pigmentosa 6 ICD10 ICD10:H35.5 inexact @@ -2717,6 +2735,7 @@ MONDO:0000911 dilated cardiomyopathy 1T MESH MESH:C566052 one_to_one MONDO:0000911 dilated cardiomyopathy 1T MONDO MONDO:0015470 subclass MONDO:0000911 dilated cardiomyopathy 1T OMIM OMIM:613740 one_to_one MONDO:0000911 dilated cardiomyopathy 1T UMLS UMLS:C3151039 one_to_one +MONDO:0000911 dilated cardiomyopathy 1T http http://identifiers.org/hgnc/11875 disease_has_basis_in_dysfunction_of MONDO:0000912 autosomal recessive nonsyndromic deafness 5 DOID DOID:0110507 one_to_one MONDO:0000912 autosomal recessive nonsyndromic deafness 5 ICD10 ICD10:H90.3 inexact MONDO:0000912 autosomal recessive nonsyndromic deafness 5 MESH MESH:C563444 one_to_one @@ -2725,9 +2744,9 @@ MONDO:0000912 autosomal recessive nonsyndromic deafness 5 OMIM OMIM:600792 one_t MONDO:0000912 autosomal recessive nonsyndromic deafness 5 UMLS UMLS:C1833319 one_to_one MONDO:0000913 hereditary spherocytosis type 2 DOID DOID:0110917 one_to_one MONDO:0000913 hereditary spherocytosis type 2 MONDO MONDO:0019350 subclass -MONDO:0000913 hereditary spherocytosis type 2 NCBIGene NCBIGene:6710 disease_has_basis_in_dysfunction_of MONDO:0000913 hereditary spherocytosis type 2 OMIM OMIM:616649 one_to_one MONDO:0000913 hereditary spherocytosis type 2 UMLS UMLS:C2674219 one_to_one +MONDO:0000913 hereditary spherocytosis type 2 http http://identifiers.org/hgnc/11274 disease_has_basis_in_dysfunction_of MONDO:0000914 CADASIL 1 DOID DOID:0111035 one_to_one MONDO:0000914 CADASIL 1 ICD10 ICD10:F01.1 inexact MONDO:0000914 CADASIL 1 MONDO MONDO:0007432 subclass @@ -2777,7 +2796,7 @@ MONDO:0000922 pelvic inflammatory disease GO GO:0006954 realized_in_response_to MONDO:0000922 pelvic inflammatory disease ICD10 ICD10:N70-N77,ICD10:N73.9 inexact MONDO:0000922 pelvic inflammatory disease ICD9 ICD9:614-616.99,ICD9:614.8,ICD9:614.9 inexact MONDO:0000922 pelvic inflammatory disease MESH MESH:D000292 one_to_one -MONDO:0000922 pelvic inflammatory disease MONDO MONDO:0000001,MONDO:0002263,MONDO:0024505 subclass +MONDO:0000922 pelvic inflammatory disease MONDO MONDO:0000001,MONDO:0002263,MONDO:0044965 subclass MONDO:0000922 pelvic inflammatory disease NCIT NCIT:C3889 one_to_one MONDO:0000922 pelvic inflammatory disease SCTID SCTID:198130006 one_to_one MONDO:0000922 pelvic inflammatory disease UBERON UBERON:0000474,UBERON:0002355 disease_has_location @@ -2975,7 +2994,7 @@ MONDO:0000953 cancer of short bone of lower limb DOID DOID:10151 one_to_one MONDO:0000953 cancer of short bone of lower limb ICD10 ICD10:C40.3 inexact MONDO:0000953 cancer of short bone of lower limb ICD9 ICD9:170.8 one_to_one MONDO:0000953 cancer of short bone of lower limb MONDO MONDO:0000952 excluded_subClassOf -MONDO:0000953 cancer of short bone of lower limb MONDO MONDO:0002129,MONDO:0004992,MONDO:0024505 subclass +MONDO:0000953 cancer of short bone of lower limb MONDO MONDO:0002129,MONDO:0004992,MONDO:0044967 subclass MONDO:0000953 cancer of short bone of lower limb SCTID SCTID:712525007 one_to_one MONDO:0000953 cancer of short bone of lower limb UBERON UBERON:0002103,UBERON:0013630 disease_has_location MONDO:0000953 cancer of short bone of lower limb UMLS UMLS:C0153518 one_to_one @@ -3239,7 +3258,7 @@ MONDO:0000991 left bundle branch hemiblock UMLS UMLS:C0155702 one_to_one MONDO:0000992 heart conduction disease DOID DOID:10273 one_to_one MONDO:0000992 heart conduction disease GO GO:0061337 disease_disrupts MONDO:0000992 heart conduction disease ICD9 ICD9:426.6 inexact -MONDO:0000992 heart conduction disease MONDO MONDO:0005267,MONDO:0021195 subclass +MONDO:0000992 heart conduction disease MONDO MONDO:0005267 subclass MONDO:0000993 prostate squamous cell carcinoma DOID DOID:10287 one_to_one MONDO:0000993 prostate squamous cell carcinoma MONDO MONDO:0005096,MONDO:0005159 subclass MONDO:0000993 prostate squamous cell carcinoma NCIT NCIT:C3090,NCIT:C50790 has_finding @@ -3552,7 +3571,7 @@ MONDO:0001041 dentin caries UMLS UMLS:C0266846 one_to_one MONDO:0001042 patellar tendinitis DOID DOID:10471 one_to_one MONDO:0001042 patellar tendinitis ICD10 ICD10:M76.5,ICD10:M76.50 inexact MONDO:0001042 patellar tendinitis ICD9 ICD9:726.64 one_to_one -MONDO:0001042 patellar tendinitis MONDO MONDO:0004857,MONDO:0005381,MONDO:0024505 subclass +MONDO:0001042 patellar tendinitis MONDO MONDO:0004857,MONDO:0005381,MONDO:0044967 subclass MONDO:0001042 patellar tendinitis SCTID SCTID:37785001 one_to_one MONDO:0001042 patellar tendinitis UBERON UBERON:0002446 disease_has_location MONDO:0001042 patellar tendinitis UMLS UMLS:C0158317 one_to_one @@ -3635,6 +3654,7 @@ MONDO:0001056 gastric cancer MONDO MONDO:0002516,MONDO:0004992,MONDO:0021085 sub MONDO:0001056 gastric cancer NCIT NCIT:C9331 one_to_one MONDO:0001056 gastric cancer OMIM OMIM:613659 one_to_one MONDO:0001056 gastric cancer UBERON UBERON:0000945 disease_has_location +MONDO:0001056 gastric cancer http http://identifiers.org/hgnc/1500,http://identifiers.org/hgnc/2235,http://identifiers.org/hgnc/3430,http://identifiers.org/hgnc/3689,http://identifiers.org/hgnc/583,http://identifiers.org/hgnc/6116,http://identifiers.org/hgnc/7527,http://identifiers.org/hgnc/8975 disease_has_basis_in_dysfunction_of MONDO:0001057 malignant gastric granular cell tumor DOID DOID:10536 one_to_one MONDO:0001057 malignant gastric granular cell tumor MONDO MONDO:0001056,MONDO:0003252 subclass MONDO:0001057 malignant gastric granular cell tumor NCIT NCIT:C5484 one_to_one @@ -4094,7 +4114,7 @@ MONDO:0001126 gastric ulcer (disease) UMLS UMLS:C0038358 one_to_one MONDO:0001127 tibialis tendinitis COHD COHD:77081 one_to_one MONDO:0001127 tibialis tendinitis DOID DOID:10810 one_to_one MONDO:0001127 tibialis tendinitis ICD9 ICD9:726.72 one_to_one -MONDO:0001127 tibialis tendinitis MONDO MONDO:0004857,MONDO:0024505 subclass +MONDO:0001127 tibialis tendinitis MONDO MONDO:0004857,MONDO:0044967 subclass MONDO:0001127 tibialis tendinitis SCTID SCTID:50127006 one_to_one MONDO:0001127 tibialis tendinitis UBERON UBERON:0008230 disease_has_location MONDO:0001127 tibialis tendinitis UMLS UMLS:C0158321 one_to_one @@ -4258,7 +4278,7 @@ MONDO:0001152 amnestic disorder EFO EFO:1001454 one_to_one MONDO:0001152 amnestic disorder GO GO:0007613 disease_disrupts MONDO:0001152 amnestic disorder ICD10 ICD10:R41.3 one_to_one MONDO:0001152 amnestic disorder ICD9 ICD9:294.0 one_to_one -MONDO:0001152 amnestic disorder MONDO MONDO:0002039,MONDO:0021195 subclass +MONDO:0001152 amnestic disorder MONDO MONDO:0002039 subclass MONDO:0001152 amnestic disorder SCTID SCTID:3298001 one_to_one MONDO:0001153 gender dysphoria DOID DOID:10919 one_to_one MONDO:0001153 gender dysphoria ICD9 ICD9:302.50 one_to_one @@ -4422,6 +4442,7 @@ MONDO:0001174 conjunctival vascular disease DOID DOID:10989 one_to_one MONDO:0001174 conjunctival vascular disease ICD10 ICD10:H11.41 one_to_one MONDO:0001174 conjunctival vascular disease ICD9 ICD9:372.74 one_to_one MONDO:0001174 conjunctival vascular disease MONDO MONDO:0000001,MONDO:0002932,MONDO:0005552 subclass +MONDO:0001174 conjunctival vascular disease NCIT NCIT:C35116 one_to_one MONDO:0001174 conjunctival vascular disease SCTID SCTID:74100001 one_to_one MONDO:0001174 conjunctival vascular disease UBERON UBERON:0010366 disease_has_location MONDO:0001175 immature cataract COHD COHD:40482507 one_to_one @@ -4499,7 +4520,7 @@ MONDO:0001185 dissociative amnesia DOID DOID:11037 one_to_one MONDO:0001185 dissociative amnesia GO GO:0007613 disease_disrupts MONDO:0001185 dissociative amnesia ICD10 ICD10:F44.0 one_to_one MONDO:0001185 dissociative amnesia ICD9 ICD9:300.12 one_to_one -MONDO:0001185 dissociative amnesia MONDO MONDO:0001160,MONDO:0021195 subclass +MONDO:0001185 dissociative amnesia MONDO MONDO:0001160 subclass MONDO:0001185 dissociative amnesia NCIT NCIT:C94328 one_to_one MONDO:0001185 dissociative amnesia SCTID SCTID:84209002 one_to_one MONDO:0001186 depersonalization disorder COHD COHD:437244 one_to_one @@ -4519,6 +4540,7 @@ MONDO:0001187 urinary bladder cancer OMIM OMIM:109800 one_to_one MONDO:0001187 urinary bladder cancer SCTID SCTID:399326009 one_to_one MONDO:0001187 urinary bladder cancer UBERON UBERON:0001255 disease_has_location MONDO:0001187 urinary bladder cancer UMLS UMLS:C0005684 one_to_one +MONDO:0001187 urinary bladder cancer http http://identifiers.org/hgnc/3690,http://identifiers.org/hgnc/5173,http://identifiers.org/hgnc/6407,http://identifiers.org/hgnc/9884 disease_has_basis_in_dysfunction_of MONDO:0001188 esophagus lymphoma DOID DOID:1106 one_to_one MONDO:0001188 esophagus lymphoma MONDO MONDO:0000621,MONDO:0004699,MONDO:0005062,MONDO:0007576,MONDO:0015549,MONDO:0015615,MONDO:0015984 subclass MONDO:0001188 esophagus lymphoma NCIT NCIT:C5687 one_to_one @@ -4915,7 +4937,7 @@ MONDO:0001247 social phobia EFO EFO:1001917 one_to_one MONDO:0001247 social phobia GO GO:0035176 disease_disrupts MONDO:0001247 social phobia ICD10 ICD10:F40.1,ICD10:F40.10 inexact MONDO:0001247 social phobia ICD9 ICD9:300.23 one_to_one -MONDO:0001247 social phobia MONDO MONDO:0003699,MONDO:0021195 subclass +MONDO:0001247 social phobia MONDO MONDO:0003699 subclass MONDO:0001247 social phobia NCIT NCIT:C34927 one_to_one MONDO:0001247 social phobia SCTID SCTID:25501002 one_to_one MONDO:0001249 trachoma COHD COHD:380640 one_to_one @@ -4948,6 +4970,7 @@ MONDO:0001251 chronic apical periodontitis SCTID SCTID:718052004 one_to_one MONDO:0001251 chronic apical periodontitis UMLS UMLS:C0392492 one_to_one MONDO:0001252 Plummer disease COHD COHD:134619 one_to_one MONDO:0001252 Plummer disease DOID DOID:11277 one_to_one +MONDO:0001252 Plummer disease EFO EFO:0009191 one_to_one MONDO:0001252 Plummer disease ICD10 ICD10:E05.2 inexact MONDO:0001252 Plummer disease ICD9 ICD9:242.3,ICD9:242.30 inexact MONDO:0001252 Plummer disease MONDO MONDO:0004425 subclass @@ -5162,7 +5185,7 @@ MONDO:0001285 endometriosis of pelvic peritoneum COHD COHD:197033 one_to_one MONDO:0001285 endometriosis of pelvic peritoneum DOID DOID:11429 one_to_one MONDO:0001285 endometriosis of pelvic peritoneum ICD10 ICD10:N80.3 inexact MONDO:0001285 endometriosis of pelvic peritoneum ICD9 ICD9:617.3 one_to_one -MONDO:0001285 endometriosis of pelvic peritoneum MONDO MONDO:0005133,MONDO:0024505 subclass +MONDO:0001285 endometriosis of pelvic peritoneum MONDO MONDO:0005133,MONDO:0044965 subclass MONDO:0001285 endometriosis of pelvic peritoneum SCTID SCTID:198251001 one_to_one MONDO:0001285 endometriosis of pelvic peritoneum UBERON UBERON:0002355,UBERON:0002358 disease_has_location MONDO:0001285 endometriosis of pelvic peritoneum UMLS UMLS:C0156345 one_to_one @@ -5429,6 +5452,7 @@ MONDO:0001323 infant gynecomastia MONDO MONDO:0001571 subclass MONDO:0001323 infant gynecomastia SCTID SCTID:34831003 one_to_one MONDO:0001323 infant gynecomastia UMLS UMLS:C1449721 one_to_one MONDO:0001324 hyperandrogenism DOID DOID:11613 one_to_one +MONDO:0001324 hyperandrogenism EFO EFO:0009006 one_to_one MONDO:0001324 hyperandrogenism GO GO:0035935 disease_has_basis_in_disruption_of MONDO:0001324 hyperandrogenism HP HP:0030348 disease_has_major_feature MONDO:0001324 hyperandrogenism MESH MESH:D017588 one_to_one @@ -5462,7 +5486,7 @@ 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:0021195,MONDO:0021196 subclass +MONDO:0001328 thyroid hormone resistance syndrome MONDO MONDO:0005420,MONDO:0044977 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 @@ -5579,8 +5603,10 @@ MONDO:0001345 antidepressant type abuse MONDO MONDO:0002491 subclass MONDO:0001347 facioscapulohumeral muscular dystrophy DOID DOID:11727 one_to_one MONDO:0001347 facioscapulohumeral muscular dystrophy ICD10 ICD10:G71.0 inexact MONDO:0001347 facioscapulohumeral muscular dystrophy MESH MESH:D020391 one_to_one -MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO MONDO:0020121 subclass +MONDO:0001347 facioscapulohumeral muscular dystrophy MONDO MONDO:0016106 subclass +MONDO:0001347 facioscapulohumeral muscular dystrophy MedDRA MedDRA:10064087 one_to_one MONDO:0001347 facioscapulohumeral muscular dystrophy NCIT NCIT:C84704 one_to_one +MONDO:0001347 facioscapulohumeral muscular dystrophy Orphanet Orphanet:269 one_to_one MONDO:0001349 odontoclasia DOID DOID:11736 one_to_one MONDO:0001349 odontoclasia ICD10 ICD10:K02.4 one_to_one MONDO:0001349 odontoclasia ICD9 ICD9:521.05 one_to_one @@ -5964,6 +5990,7 @@ MONDO:0001406 peripheral nervous system neoplasm ICD9 ICD9:239.2 inexact MONDO:0001406 peripheral nervous system neoplasm MESH MESH:D010524 one_to_one MONDO:0001406 peripheral nervous system neoplasm MONDO MONDO:0003620,MONDO:0005070,MONDO:0021248 subclass MONDO:0001406 peripheral nervous system neoplasm NCIT NCIT:C3321 one_to_one +MONDO:0001406 peripheral nervous system neoplasm ONCOTREE ONCOTREE:PNS one_to_one MONDO:0001406 peripheral nervous system neoplasm SCTID SCTID:126980002 one_to_one MONDO:0001406 peripheral nervous system neoplasm UBERON UBERON:0000010 disease_has_location MONDO:0001406 peripheral nervous system neoplasm UMLS UMLS:C0031118 one_to_one @@ -6081,7 +6108,7 @@ MONDO:0001422 primary aldosteronism HP HP:0003351,HP:0030852 disease_has_feature MONDO:0001422 primary aldosteronism ICD10 ICD10:E26.0,ICD10:E26.01 inexact MONDO:0001422 primary aldosteronism ICD9 ICD9:255.12 one_to_one MONDO:0001422 primary aldosteronism MONDO MONDO:0003924 excluded_subClassOf -MONDO:0001422 primary aldosteronism MONDO MONDO:0005495,MONDO:0021195 subclass +MONDO:0001422 primary aldosteronism MONDO MONDO:0005495 subclass MONDO:0001422 primary aldosteronism NCIT NCIT:C34510 one_to_one MONDO:0001422 primary aldosteronism SCTID SCTID:190507007 one_to_one MONDO:0001423 drug-induced mental disorder DOID DOID:1203 one_to_one @@ -6168,7 +6195,7 @@ MONDO:0001437 pulmonary alveolar proteinosis HP HP:0006517 disease_has_major_fea MONDO:0001437 pulmonary alveolar proteinosis ICD10 ICD10:J84.01 one_to_one MONDO:0001437 pulmonary alveolar proteinosis ICD9 ICD9:516.0 one_to_one MONDO:0001437 pulmonary alveolar proteinosis MESH MESH:D011649 one_to_one -MONDO:0001437 pulmonary alveolar proteinosis MONDO MONDO:0005275,MONDO:0021195 subclass +MONDO:0001437 pulmonary alveolar proteinosis MONDO MONDO:0005275 subclass MONDO:0001437 pulmonary alveolar proteinosis NCIT NCIT:C85037 one_to_one MONDO:0001437 pulmonary alveolar proteinosis Reactome Reactome:R-HSA-5683826 one_to_one MONDO:0001437 pulmonary alveolar proteinosis SCTID SCTID:10501004 one_to_one @@ -6314,7 +6341,7 @@ MONDO:0001458 ulnar nerve lesion UBERON UBERON:0001494 disease_has_location MONDO:0001458 ulnar nerve lesion UMLS UMLS:C1288279 one_to_one MONDO:0001459 radial neuropathy DOID DOID:12171 one_to_one MONDO:0001459 radial neuropathy MESH MESH:D020425 one_to_one -MONDO:0001459 radial neuropathy MONDO MONDO:0001397,MONDO:0005244,MONDO:0006683,MONDO:0024505 subclass +MONDO:0001459 radial neuropathy MONDO MONDO:0001397,MONDO:0005244,MONDO:0006683,MONDO:0044967 subclass MONDO:0001459 radial neuropathy SCTID SCTID:16644004 one_to_one MONDO:0001459 radial neuropathy UBERON UBERON:0001492 disease_has_location MONDO:0001459 radial neuropathy UMLS UMLS:C0748226 one_to_one @@ -6463,7 +6490,7 @@ MONDO:0001481 femoral vein thrombophlebitis COHD COHD:439314 one_to_one MONDO:0001481 femoral vein thrombophlebitis DOID DOID:12282 one_to_one MONDO:0001481 femoral vein thrombophlebitis ICD10 ICD10:I80.1 one_to_one MONDO:0001481 femoral vein thrombophlebitis ICD9 ICD9:451.11 one_to_one -MONDO:0001481 femoral vein thrombophlebitis MONDO MONDO:0002800,MONDO:0024505 subclass +MONDO:0001481 femoral vein thrombophlebitis MONDO MONDO:0002800,MONDO:0044967 subclass MONDO:0001481 femoral vein thrombophlebitis SCTID SCTID:1748006 one_to_one MONDO:0001481 femoral vein thrombophlebitis UBERON UBERON:0001361 disease_has_location MONDO:0001481 femoral vein thrombophlebitis UMLS UMLS:C0265066 one_to_one @@ -6781,7 +6808,7 @@ MONDO:0001531 blood coagulation disease GO GO:0007596 disease_disrupts MONDO:0001531 blood coagulation disease ICD10 ICD10:D68.9 one_to_one MONDO:0001531 blood coagulation disease ICD9 ICD9:286,ICD9:286.9,ICD9:287.8 inexact MONDO:0001531 blood coagulation disease MESH MESH:D001778 one_to_one -MONDO:0001531 blood coagulation disease MONDO MONDO:0000001,MONDO:0005570,MONDO:0021195 subclass +MONDO:0001531 blood coagulation disease MONDO MONDO:0000001,MONDO:0005570 subclass MONDO:0001531 blood coagulation disease NCIT NCIT:C2902 one_to_one MONDO:0001531 blood coagulation disease SCTID SCTID:64779008 one_to_one MONDO:0001532 capillariasis DOID DOID:12474 one_to_one @@ -6846,7 +6873,7 @@ MONDO:0001541 plantar nerve lesion DOID DOID:12524 one_to_one MONDO:0001541 plantar nerve lesion ICD10 ICD10:G57.6,ICD10:G57.60 inexact MONDO:0001541 plantar nerve lesion ICD9 ICD9:355.6 one_to_one MONDO:0001541 plantar nerve lesion MONDO MONDO:0004797 excluded_subClassOf -MONDO:0001541 plantar nerve lesion MONDO MONDO:0001543,MONDO:0024334,MONDO:0024505 subclass +MONDO:0001541 plantar nerve lesion MONDO MONDO:0001543,MONDO:0024334,MONDO:0044967 subclass MONDO:0001541 plantar nerve lesion SCTID SCTID:193148004 one_to_one MONDO:0001541 plantar nerve lesion UBERON UBERON:0035109 disease_has_location MONDO:0001541 plantar nerve lesion UMLS UMLS:C0154752 one_to_one @@ -6949,7 +6976,7 @@ MONDO:0001557 olecranon bursitis COHD COHD:134452 one_to_one MONDO:0001557 olecranon bursitis DOID DOID:12581 one_to_one MONDO:0001557 olecranon bursitis ICD10 ICD10:M70.2 one_to_one MONDO:0001557 olecranon bursitis ICD9 ICD9:726.33 one_to_one -MONDO:0001557 olecranon bursitis MONDO MONDO:0001467,MONDO:0002183,MONDO:0002471,MONDO:0005381,MONDO:0024505 subclass +MONDO:0001557 olecranon bursitis MONDO MONDO:0001467,MONDO:0002183,MONDO:0002471,MONDO:0005381,MONDO:0044967 subclass MONDO:0001557 olecranon bursitis SCTID SCTID:425940002 one_to_one MONDO:0001557 olecranon bursitis UBERON UBERON:0006810 disease_has_location MONDO:0001557 olecranon bursitis UMLS UMLS:C0263962,UMLS:C3887895 inexact @@ -7135,6 +7162,7 @@ MONDO:0001586 mucopolysaccharidosis type 1 GARD GARD:0010335 one_to_one MONDO:0001586 mucopolysaccharidosis type 1 ICD10 ICD10:E76.0 inexact MONDO:0001586 mucopolysaccharidosis type 1 MONDO MONDO:0019058,MONDO:0019249,MONDO:0019706,MONDO:0020186,MONDO:0020279 subclass MONDO:0001586 mucopolysaccharidosis type 1 MedDRA MedDRA:10056886 one_to_one +MONDO:0001586 mucopolysaccharidosis type 1 NCIT NCIT:C85053 one_to_one MONDO:0001586 mucopolysaccharidosis type 1 Orphanet Orphanet:579 one_to_one MONDO:0001586 mucopolysaccharidosis type 1 SCTID SCTID:75610003 one_to_one MONDO:0001588 chronic lacrimal gland enlargement COHD COHD:381867 one_to_one @@ -7174,7 +7202,7 @@ MONDO:0001592 prolapse of female genital organ UMLS UMLS:C0156349 one_to_one MONDO:0001593 rectal disease DOID DOID:1285 one_to_one MONDO:0001593 rectal disease ICD9 ICD9:569.49 inexact MONDO:0001593 rectal disease MESH MESH:D012002 one_to_one -MONDO:0001593 rectal disease MONDO MONDO:0000001,MONDO:0024505,MONDO:0024634 subclass +MONDO:0001593 rectal disease MONDO MONDO:0000001,MONDO:0024634 subclass MONDO:0001593 rectal disease SCTID SCTID:5964004 one_to_one MONDO:0001593 rectal disease UBERON UBERON:0001052 disease_has_location MONDO:0001593 rectal disease UMLS UMLS:C0034882 one_to_one @@ -7182,7 +7210,7 @@ MONDO:0001594 Achilles bursitis COHD COHD:439524 one_to_one MONDO:0001594 Achilles bursitis DOID DOID:12857 one_to_one MONDO:0001594 Achilles bursitis ICD10 ICD10:M76.6 one_to_one MONDO:0001594 Achilles bursitis ICD9 ICD9:726.71 one_to_one -MONDO:0001594 Achilles bursitis MONDO MONDO:0002471,MONDO:0004857,MONDO:0024505 subclass +MONDO:0001594 Achilles bursitis MONDO MONDO:0002471,MONDO:0004857,MONDO:0044967 subclass MONDO:0001594 Achilles bursitis UBERON UBERON:0003701 disease_has_inflammation_site MONDO:0001594 Achilles bursitis UMLS UMLS:C0149846 one_to_one MONDO:0001595 choreatic disease DOID DOID:12859 one_to_one @@ -7570,7 +7598,7 @@ MONDO:0001652 scrotum melanoma UMLS UMLS:C1331544 one_to_one MONDO:0001653 prepuce cancer DOID DOID:13168 one_to_one MONDO:0001653 prepuce cancer ICD10 ICD10:C60.0 inexact MONDO:0001653 prepuce cancer ICD9 ICD9:187.1 one_to_one -MONDO:0001653 prepuce cancer MONDO MONDO:0002149,MONDO:0002898,MONDO:0004992,MONDO:0024505 subclass +MONDO:0001653 prepuce cancer MONDO MONDO:0002149,MONDO:0002898,MONDO:0004992 subclass MONDO:0001653 prepuce cancer SCTID SCTID:363450006 one_to_one MONDO:0001653 prepuce cancer UBERON UBERON:0011374 disease_has_location MONDO:0001653 prepuce cancer UMLS UMLS:C0153598 one_to_one @@ -7819,7 +7847,7 @@ MONDO:0001699 tinea manuum COHD COHD:80946 one_to_one MONDO:0001699 tinea manuum DOID DOID:13369 one_to_one MONDO:0001699 tinea manuum ICD10 ICD10:B35.2 one_to_one MONDO:0001699 tinea manuum ICD9 ICD9:110.2 one_to_one -MONDO:0001699 tinea manuum MONDO MONDO:0004678,MONDO:0024505 subclass +MONDO:0001699 tinea manuum MONDO MONDO:0004678,MONDO:0044967 subclass MONDO:0001699 tinea manuum NCBITaxon NCBITaxon:4890 realized_in_response_to_stimulus MONDO:0001699 tinea manuum SCTID SCTID:48971001 one_to_one MONDO:0001699 tinea manuum UBERON UBERON:0002398 disease_has_location @@ -7851,7 +7879,7 @@ MONDO:0001703 color vision disorder DOID DOID:13399 one_to_one MONDO:0001703 color vision disorder ICD10 ICD10:H53.5,ICD10:H53.50 inexact MONDO:0001703 color vision disorder ICD9 ICD9:368.5,ICD9:368.59 inexact MONDO:0001703 color vision disorder MONDO MONDO:0001941 excluded_subClassOf -MONDO:0001703 color vision disorder MONDO MONDO:0001941,MONDO:0021197 subclass +MONDO:0001703 color vision disorder MONDO MONDO:0001941 subclass MONDO:0001703 color vision disorder NCIT NCIT:C3891 one_to_one MONDO:0001703 color vision disorder Orphanet Orphanet:98658 one_to_one MONDO:0001703 color vision disorder SCTID SCTID:193683001 one_to_one @@ -8446,7 +8474,7 @@ MONDO:0001795 plantar wart DOID DOID:13775 one_to_one MONDO:0001795 plantar wart EFO EFO:1002023 one_to_one MONDO:0001795 plantar wart ICD10 ICD10:B07.0 one_to_one MONDO:0001795 plantar wart ICD9 ICD9:078.12 one_to_one -MONDO:0001795 plantar wart MONDO MONDO:0000001,MONDO:0005108,MONDO:0024294,MONDO:0024505,MONDO:0024666 subclass +MONDO:0001795 plantar wart MONDO MONDO:0000001,MONDO:0005108,MONDO:0024294,MONDO:0024666,MONDO:0044967 subclass MONDO:0001795 plantar wart NCBITaxon NCBITaxon:173087 realized_in_response_to_stimulus MONDO:0001795 plantar wart NCIT NCIT:C34892,NCIT:C35541 has_finding MONDO:0001795 plantar wart NCIT NCIT:C26913 one_to_one @@ -8937,7 +8965,7 @@ MONDO:0001875 epicondylitis DOID DOID:14087 one_to_one MONDO:0001875 epicondylitis ICD10 ICD10:M77.1 one_to_one MONDO:0001875 epicondylitis ICD9 ICD9:726.32 one_to_one MONDO:0001875 epicondylitis MESH MESH:D013716 one_to_one -MONDO:0001875 epicondylitis MONDO MONDO:0000001,MONDO:0002614,MONDO:0021166,MONDO:0024505 subclass +MONDO:0001875 epicondylitis MONDO MONDO:0000001,MONDO:0002614,MONDO:0021166,MONDO:0044967 subclass MONDO:0001875 epicondylitis NCIT NCIT:C34589 one_to_one MONDO:0001875 epicondylitis SCTID SCTID:202855006 one_to_one MONDO:0001875 epicondylitis UBERON UBERON:0006807 disease_has_inflammation_site @@ -9030,6 +9058,7 @@ MONDO:0001888 anus lymphoma NCIT NCIT:C5601 one_to_one MONDO:0001888 anus lymphoma UBERON UBERON:0001245 disease_has_location MONDO:0001888 anus lymphoma UMLS UMLS:C1332268 one_to_one MONDO:0001889 ovarian dysfunction DOID DOID:1414 one_to_one +MONDO:0001889 ovarian dysfunction EFO EFO:0009003 one_to_one MONDO:0001889 ovarian dysfunction ICD10 ICD10:E28 one_to_one MONDO:0001889 ovarian dysfunction ICD9 ICD9:256.3,ICD9:256.39,ICD9:256.8,ICD9:256.9 inexact MONDO:0001889 ovarian dysfunction MONDO MONDO:0005558 subclass @@ -9250,7 +9279,7 @@ MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses ICD9 ICD MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses MONDO MONDO:0019118 subclass MONDO:0001926 ureteral disease DOID DOID:1426 one_to_one MONDO:0001926 ureteral disease MESH MESH:D014515 one_to_one -MONDO:0001926 ureteral disease MONDO MONDO:0000001,MONDO:0002118,MONDO:0024505 subclass +MONDO:0001926 ureteral disease MONDO MONDO:0000001,MONDO:0002118,MONDO:0044965 subclass MONDO:0001926 ureteral disease NCIT NCIT:C27148 one_to_one MONDO:0001926 ureteral disease SCTID SCTID:128073008 one_to_one MONDO:0001926 ureteral disease UBERON UBERON:0000056 disease_has_location @@ -9375,6 +9404,7 @@ MONDO:0001945 postencephalitic Parkinson disease SCTID SCTID:19972008 one_to_one MONDO:0001945 postencephalitic Parkinson disease UMLS UMLS:C0030568 one_to_one MONDO:0001946 hyperestrogenism COHD COHD:200677 one_to_one MONDO:0001946 hyperestrogenism DOID DOID:14336 one_to_one +MONDO:0001946 hyperestrogenism EFO EFO:0009004 one_to_one MONDO:0001946 hyperestrogenism ICD10 ICD10:E28.0 one_to_one MONDO:0001946 hyperestrogenism ICD9 ICD9:256.0 one_to_one MONDO:0001946 hyperestrogenism MONDO MONDO:0001889 subclass @@ -9462,7 +9492,7 @@ MONDO:0001959 labyrinthine bilateral reactive loss UMLS UMLS:C0155520 one_to_one MONDO:0001962 abnormality of glucagon secretion DOID DOID:14427 one_to_one MONDO:0001962 abnormality of glucagon secretion GO GO:0070091 disease_disrupts MONDO:0001962 abnormality of glucagon secretion ICD9 ICD9:251.4 one_to_one -MONDO:0001962 abnormality of glucagon secretion MONDO MONDO:0001933,MONDO:0021195 subclass +MONDO:0001962 abnormality of glucagon secretion MONDO MONDO:0001933 subclass MONDO:0001962 abnormality of glucagon secretion SCTID SCTID:11178005 one_to_one MONDO:0001962 abnormality of glucagon secretion UMLS UMLS:C0154191 one_to_one MONDO:0001964 chronic tubotympanic suppurative otitis media COHD COHD:375290 one_to_one @@ -9859,6 +9889,7 @@ MONDO:0002037 pleural disease DOID DOID:1532 one_to_one MONDO:0002037 pleural disease ICD9 ICD9:518.89 inexact MONDO:0002037 pleural disease MESH MESH:D010995 one_to_one MONDO:0002037 pleural disease MONDO MONDO:0000001,MONDO:0000270 subclass +MONDO:0002037 pleural disease NCIT NCIT:C26859 one_to_one MONDO:0002037 pleural disease SCTID SCTID:88075009 one_to_one MONDO:0002037 pleural disease UBERON UBERON:0000977 disease_has_location MONDO:0002037 pleural disease UMLS UMLS:C0032226 one_to_one @@ -9937,6 +9968,7 @@ MONDO:0002047 pulmonary systemic sclerosis UMLS UMLS:C0339904 one_to_one MONDO:0002048 thrombocytopenia due to immune destruction DOID DOID:1587 one_to_one MONDO:0002048 thrombocytopenia due to immune destruction GARD GARD:0006768 one_to_one MONDO:0002048 thrombocytopenia due to immune destruction MONDO MONDO:0002049 subclass +MONDO:0002048 thrombocytopenia due to immune destruction NCIT NCIT:C3991 one_to_one MONDO:0002048 thrombocytopenia due to immune destruction UBERON UBERON:0002405 disease_has_basis_in_disruption_of MONDO:0002049 thrombocytopenia DOID DOID:1588 one_to_one MONDO:0002049 thrombocytopenia ICD10 ICD10:D69.6 one_to_one @@ -10001,7 +10033,7 @@ 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 -MONDO:0002060 intraductal papilloma MONDO MONDO:0002363,MONDO:0021199 subclass +MONDO:0002060 intraductal papilloma MONDO MONDO:0002363 subclass MONDO:0002060 intraductal papilloma NCIT NCIT:C62214 has_finding MONDO:0002060 intraductal papilloma NCIT NCIT:C3785 one_to_one MONDO:0002060 intraductal papilloma UBERON UBERON:0000058 disease_has_location @@ -10305,6 +10337,7 @@ 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 MONDO:0002112 benign peritoneal mesothelioma MONDO MONDO:0000650,MONDO:0002373,MONDO:0006362 subclass +MONDO:0002112 benign peritoneal mesothelioma NCIT NCIT:C7354 one_to_one MONDO:0002112 benign peritoneal mesothelioma UBERON UBERON:0002358 disease_has_location MONDO:0002113 peritoneal carcinoma DOID DOID:1791 one_to_one MONDO:0002113 peritoneal carcinoma MONDO MONDO:0002087,MONDO:0004993 subclass @@ -10330,6 +10363,7 @@ MONDO:0002118 urinary system disease DOID DOID:18 one_to_one MONDO:0002118 urinary system disease ICD9 ICD9:V47.4 one_to_one MONDO:0002118 urinary system disease MESH MESH:D014570 one_to_one MONDO:0002118 urinary system disease MONDO MONDO:0000001,MONDO:0021199 subclass +MONDO:0002118 urinary system disease NCIT NCIT:C3430 one_to_one MONDO:0002118 urinary system disease SCTID SCTID:128606002 one_to_one MONDO:0002118 urinary system disease UBERON UBERON:0001008 disease_has_location MONDO:0002118 urinary system disease UMLS UMLS:C1335051 one_to_one @@ -10366,6 +10400,7 @@ MONDO:0002122 neuritis SCTID SCTID:128192007 one_to_one MONDO:0002122 neuritis UBERON UBERON:0001021 disease_has_inflammation_site MONDO:0002122 neuritis UMLS UMLS:C0027813 one_to_one MONDO:0002123 calcinosis DOID DOID:182 one_to_one +MONDO:0002123 calcinosis EFO EFO:0003837 one_to_one MONDO:0002123 calcinosis HP HP:0003761 one_to_one MONDO:0002123 calcinosis ICD9 ICD9:275.49 inexact MONDO:0002123 calcinosis MESH MESH:D002114 one_to_one @@ -10499,12 +10534,15 @@ MONDO:0002142 undifferentiated pleomorphic sarcoma NCIT NCIT:C114541,NCIT:C4247 MONDO:0002142 undifferentiated pleomorphic sarcoma ONCOTREE ONCOTREE:MFH one_to_one MONDO:0002142 undifferentiated pleomorphic sarcoma Orphanet Orphanet:2023 one_to_one MONDO:0002142 undifferentiated pleomorphic sarcoma SCTID SCTID:443439001 one_to_one +MONDO:0002142 undifferentiated pleomorphic sarcoma http http://identifiers.org/hgnc/16982 one_to_one MONDO:0002143 vaginal yolk sac tumor DOID DOID:1910 one_to_one MONDO:0002143 vaginal yolk sac tumor MONDO MONDO:0005744,MONDO:0016094 subclass 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 @@ -10536,7 +10574,7 @@ MONDO:0002149 reproductive organ cancer UMLS UMLS:C1334618 one_to_one MONDO:0002150 hypothalamic disease DOID DOID:1931 one_to_one MONDO:0002150 hypothalamic disease ICD9 ICD9:253.9 inexact MONDO:0002150 hypothalamic disease MESH MESH:D007027 one_to_one -MONDO:0002150 hypothalamic disease MONDO MONDO:0000812,MONDO:0003081,MONDO:0005381,MONDO:0024505 subclass +MONDO:0002150 hypothalamic disease MONDO MONDO:0000812,MONDO:0003081,MONDO:0005381 subclass MONDO:0002150 hypothalamic disease SCTID SCTID:399100005 one_to_one MONDO:0002150 hypothalamic disease UBERON UBERON:2000364 disease_has_location MONDO:0002150 hypothalamic disease UMLS UMLS:C0020655 one_to_one @@ -10575,7 +10613,7 @@ MONDO:0002155 cholecystitis SCTID SCTID:20824003 one_to_one MONDO:0002155 cholecystitis UBERON UBERON:0002110 disease_has_inflammation_site MONDO:0002156 fallopian tube disease DOID DOID:1962 one_to_one MONDO:0002156 fallopian tube disease MESH MESH:D005184 one_to_one -MONDO:0002156 fallopian tube disease MONDO MONDO:0000001,MONDO:0002263,MONDO:0024505 subclass +MONDO:0002156 fallopian tube disease MONDO MONDO:0000001,MONDO:0002263,MONDO:0044965 subclass MONDO:0002156 fallopian tube disease NCIT NCIT:C26771 one_to_one MONDO:0002156 fallopian tube disease SCTID SCTID:128134005 one_to_one MONDO:0002156 fallopian tube disease UBERON UBERON:0003889 disease_has_location @@ -10626,7 +10664,7 @@ MONDO:0002166 rectum lymphoma NCIT NCIT:C5553 one_to_one MONDO:0002166 rectum lymphoma UBERON UBERON:0001052 disease_has_location MONDO:0002166 rectum lymphoma UMLS UMLS:C1335685 one_to_one MONDO:0002167 rectum malignant melanoma DOID DOID:1992 one_to_one -MONDO:0002167 rectum malignant melanoma MONDO MONDO:0002120,MONDO:0003646,MONDO:0005105,MONDO:0006519,MONDO:0024331 subclass +MONDO:0002167 rectum malignant melanoma MONDO MONDO:0002120,MONDO:0003646,MONDO:0005105,MONDO:0044937 subclass MONDO:0002167 rectum malignant melanoma NCIT NCIT:C4640 one_to_one MONDO:0002167 rectum malignant melanoma SCTID SCTID:276822007 one_to_one MONDO:0002167 rectum malignant melanoma UBERON UBERON:0001052 disease_has_location @@ -10638,7 +10676,7 @@ MONDO:0002168 rectum sarcoma UBERON UBERON:0001052 disease_has_location MONDO:0002168 rectum sarcoma UMLS UMLS:C1335688 one_to_one MONDO:0002169 rectum adenocarcinoma DOID DOID:1996 one_to_one MONDO:0002169 rectum adenocarcinoma EFO EFO:0005631 one_to_one -MONDO:0002169 rectum adenocarcinoma MONDO MONDO:0004970,MONDO:0005008,MONDO:0006519,MONDO:0024476 subclass +MONDO:0002169 rectum adenocarcinoma MONDO MONDO:0004970,MONDO:0005008,MONDO:0044937 subclass MONDO:0002169 rectum adenocarcinoma NCIT NCIT:C9383 one_to_one MONDO:0002169 rectum adenocarcinoma ONCOTREE ONCOTREE:READ one_to_one MONDO:0002169 rectum adenocarcinoma SCTID SCTID:254582000 one_to_one @@ -10882,7 +10920,7 @@ MONDO:0002209 heel spur DOID DOID:210 one_to_one MONDO:0002209 heel spur ICD10 ICD10:M77.3,ICD10:M77.30 inexact MONDO:0002209 heel spur ICD9 ICD9:726.73 one_to_one MONDO:0002209 heel spur MESH MESH:D036982 one_to_one -MONDO:0002209 heel spur MONDO MONDO:0002181,MONDO:0024505 subclass +MONDO:0002209 heel spur MONDO MONDO:0002181,MONDO:0044967 subclass MONDO:0002209 heel spur SCTID SCTID:55260003 one_to_one MONDO:0002209 heel spur UBERON UBERON:0001450 disease_has_location MONDO:0002209 heel spur UMLS UMLS:C0158322 one_to_one @@ -11055,7 +11093,7 @@ MONDO:0002240 acute perichondritis of pinna PATO PATO:0000389 has_modifier MONDO:0002240 acute perichondritis of pinna SCTID SCTID:45855004 one_to_one MONDO:0002240 acute perichondritis of pinna UMLS UMLS:C0155390 one_to_one MONDO:0002241 factor XIII deficiency GO GO:0003810 disease_has_basis_in_disruption_of -MONDO:0002241 factor XIII deficiency MONDO MONDO:0002242,MONDO:0021196 subclass +MONDO:0002241 factor XIII deficiency MONDO MONDO:0002242,MONDO:0044976 subclass MONDO:0002242 coagulation protein disease DOID DOID:2212 one_to_one MONDO:0002242 coagulation protein disease MESH MESH:D020147 one_to_one MONDO:0002242 coagulation protein disease MONDO MONDO:0001531 subclass @@ -11072,7 +11110,7 @@ MONDO:0002244 factor VII deficiency MONDO MONDO:0002242,MONDO:0002243 subclass MONDO:0002244 factor VII deficiency SCTID SCTID:37193007 one_to_one MONDO:0002245 blood platelet disease CL CL:0000233 disease_has_basis_in_dysfunction_of MONDO:0002245 blood platelet disease MESH MESH:D001791 one_to_one -MONDO:0002245 blood platelet disease MONDO MONDO:0000001,MONDO:0005570,MONDO:0021197 subclass +MONDO:0002245 blood platelet disease MONDO MONDO:0000001,MONDO:0005570,MONDO:0044979 subclass MONDO:0002245 blood platelet disease SCTID SCTID:22716005 one_to_one MONDO:0002246 perichondritis of auricle COHD COHD:136710 one_to_one MONDO:0002246 perichondritis of auricle DOID DOID:222 one_to_one @@ -11083,7 +11121,7 @@ MONDO:0002246 perichondritis of auricle SCTID SCTID:34129005 one_to_one MONDO:0002246 perichondritis of auricle UMLS UMLS:C0155389 one_to_one MONDO:0002247 factor X deficiency GO GO:0004252 disease_disrupts MONDO:0002247 factor X deficiency MESH MESH:D005171 one_to_one -MONDO:0002247 factor X deficiency MONDO MONDO:0002242,MONDO:0002243,MONDO:0021196 subclass +MONDO:0002247 factor X deficiency MONDO MONDO:0002242,MONDO:0002243,MONDO:0044976 subclass MONDO:0002247 factor X deficiency NCIT NCIT:C131632 one_to_one MONDO:0002249 thrombocytosis disease DOID DOID:2228 one_to_one MONDO:0002249 thrombocytosis disease HP HP:0001894 disease_has_feature @@ -11262,13 +11300,14 @@ MONDO:0002272 polyclonal hypergammaglobulinemia UMLS UMLS:C0154254 one_to_one MONDO:0002273 plasma protein metabolism disease DOID DOID:2345 one_to_one MONDO:0002273 plasma protein metabolism disease ICD9 ICD9:273.8 one_to_one MONDO:0002273 plasma protein metabolism disease MONDO MONDO:0019052 subclass -MONDO:0002274 monoclonal paraproteinemia COHD COHD:441532 one_to_one -MONDO:0002274 monoclonal paraproteinemia DOID DOID:2346 one_to_one -MONDO:0002274 monoclonal paraproteinemia ICD9 ICD9:273.1 one_to_one -MONDO:0002274 monoclonal paraproteinemia MONDO MONDO:0002273 subclass -MONDO:0002274 monoclonal paraproteinemia NCIT NCIT:C35878 one_to_one -MONDO:0002274 monoclonal paraproteinemia SCTID SCTID:267440005 one_to_one -MONDO:0002274 monoclonal paraproteinemia UMLS UMLS:C0026471 one_to_one +MONDO:0002274 monoclonal paraproteinemia disease COHD COHD:441532 one_to_one +MONDO:0002274 monoclonal paraproteinemia disease DOID DOID:2346 one_to_one +MONDO:0002274 monoclonal paraproteinemia disease HP HP:0031047 one_to_one +MONDO:0002274 monoclonal paraproteinemia disease ICD9 ICD9:273.1 one_to_one +MONDO:0002274 monoclonal paraproteinemia disease MONDO MONDO:0002273,MONDO:0004960 subclass +MONDO:0002274 monoclonal paraproteinemia disease NCIT NCIT:C35878 one_to_one +MONDO:0002274 monoclonal paraproteinemia disease SCTID SCTID:267440005 one_to_one +MONDO:0002274 monoclonal paraproteinemia disease UMLS UMLS:C0026471 one_to_one MONDO:0002275 generalized atherosclerosis COHD COHD:321882 one_to_one MONDO:0002275 generalized atherosclerosis DOID DOID:2347 one_to_one MONDO:0002275 generalized atherosclerosis ICD10 ICD10:I70.91 one_to_one @@ -11279,6 +11318,7 @@ MONDO:0002275 generalized atherosclerosis SCTID SCTID:39823006 one_to_one MONDO:0002275 generalized atherosclerosis UMLS UMLS:C0017327 one_to_one MONDO:0002277 arteriosclerosis disorder CSP CSP:0571-2299 one_to_one MONDO:0002277 arteriosclerosis disorder DOID DOID:2348,DOID:2349 inexact +MONDO:0002277 arteriosclerosis disorder EFO EFO:0009086 one_to_one MONDO:0002277 arteriosclerosis disorder HP HP:0002634 one_to_one MONDO:0002277 arteriosclerosis disorder ICD10 ICD10:I25.1,ICD10:I70 inexact MONDO:0002277 arteriosclerosis disorder ICD9 ICD9:440 inexact @@ -11309,7 +11349,7 @@ MONDO:0002280 anemia (disease) HP HP:0001903 one_to_one MONDO:0002280 anemia (disease) ICD10 ICD10:D64.9 one_to_one MONDO:0002280 anemia (disease) ICD9 ICD9:285.8,ICD9:285.9 inexact MONDO:0002280 anemia (disease) MESH MESH:D000740 one_to_one -MONDO:0002280 anemia (disease) MONDO MONDO:0005570,MONDO:0021195 subclass +MONDO:0002280 anemia (disease) MONDO MONDO:0005570 subclass MONDO:0002280 anemia (disease) NCIT NCIT:C2869 one_to_one MONDO:0002280 anemia (disease) SCTID SCTID:271737000 one_to_one MONDO:0002281 macrocytic anemia (disease) DOID DOID:2361 one_to_one @@ -11422,7 +11462,7 @@ MONDO:0002303 central retinal vein occlusion COHD COHD:313761 one_to_one MONDO:0002303 central retinal vein occlusion DOID DOID:2450 one_to_one MONDO:0002303 central retinal vein occlusion ICD10 ICD10:H34.81 one_to_one MONDO:0002303 central retinal vein occlusion ICD9 ICD9:362.35 one_to_one -MONDO:0002303 central retinal vein occlusion MONDO MONDO:0004634,MONDO:0006951 subclass +MONDO:0002303 central retinal vein occlusion MONDO MONDO:0002602,MONDO:0004634,MONDO:0006951 subclass MONDO:0002303 central retinal vein occlusion NCIT NCIT:C118859 one_to_one MONDO:0002303 central retinal vein occlusion SCTID SCTID:68478007 one_to_one MONDO:0002303 central retinal vein occlusion UBERON UBERON:0001673 disease_has_location @@ -11438,6 +11478,7 @@ MONDO:0002304 protein S deficiency NCIT NCIT:C99026 one_to_one MONDO:0002304 protein S deficiency Orphanet Orphanet:118053 one_to_one MONDO:0002304 protein S deficiency SCTID SCTID:1563006 one_to_one MONDO:0002304 protein S deficiency UMLS UMLS:C0242666 one_to_one +MONDO:0002304 protein S deficiency http http://identifiers.org/hgnc/9456 one_to_one MONDO:0002305 thrombophilia COHD COHD:4295287 one_to_one MONDO:0002305 thrombophilia DOID DOID:2452 one_to_one MONDO:0002305 thrombophilia ICD10 ICD10:D68.59 inexact @@ -11578,7 +11619,7 @@ MONDO:0002326 alcohol-induced mental disorder DOID DOID:251 one_to_one 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:0002327 intracranial cavernous angioma DOID DOID:2516 one_to_one -MONDO:0002327 intracranial cavernous angioma MONDO MONDO:0002328,MONDO:0003155 subclass +MONDO:0002327 intracranial cavernous angioma MONDO MONDO:0002328,MONDO:0003155,MONDO:0003641 subclass MONDO:0002327 intracranial cavernous angioma NCIT NCIT:C5432 one_to_one MONDO:0002327 intracranial cavernous angioma SCTID SCTID:445513004 one_to_one MONDO:0002327 intracranial cavernous angioma UMLS UMLS:C1334237 one_to_one @@ -11610,10 +11651,11 @@ MONDO:0002331 nephrosis MESH MESH:D009401 one_to_one MONDO:0002331 nephrosis MONDO MONDO:0005240 subclass MONDO:0002331 nephrosis UMLS UMLS:C0027720 one_to_one MONDO:0002332 splenic disease DOID DOID:2529 one_to_one +MONDO:0002332 splenic disease EFO EFO:0009002 one_to_one MONDO:0002332 splenic disease ICD10 ICD10:D73,ICD10:D73.9 inexact MONDO:0002332 splenic disease ICD9 ICD9:289.50 one_to_one MONDO:0002332 splenic disease MESH MESH:D013158 one_to_one -MONDO:0002332 splenic disease MONDO MONDO:0000001,MONDO:0005570,MONDO:0005833,MONDO:0024505 subclass +MONDO:0002332 splenic disease MONDO MONDO:0000001,MONDO:0005570,MONDO:0005833,MONDO:0044965 subclass MONDO:0002332 splenic disease NCIT NCIT:C35823 one_to_one MONDO:0002332 splenic disease SCTID SCTID:51244008 one_to_one MONDO:0002332 splenic disease UBERON UBERON:0002106 disease_has_location @@ -11632,7 +11674,7 @@ MONDO:0002334 hematopoietic and lymphoid system neoplasm MESH MESH:D019337 one_t MONDO:0002334 hematopoietic and lymphoid system neoplasm MONDO MONDO:0005070,MONDO:0005570 subclass MONDO:0002334 hematopoietic and lymphoid system neoplasm NCIT NCIT:C35813 one_to_one MONDO:0002334 hematopoietic and lymphoid system neoplasm SCTID SCTID:129154003 one_to_one -MONDO:0002334 hematopoietic and lymphoid system neoplasm UBERON UBERON:0000178 disease_has_location +MONDO:0002334 hematopoietic and lymphoid system neoplasm UBERON UBERON:0002390 disease_has_location MONDO:0002334 hematopoietic and lymphoid system neoplasm UMLS UMLS:C0376544,UMLS:C0376545,UMLS:C1512393 inexact MONDO:0002335 chronic inflammatory demyelinating polyneuritis DOID DOID:2536 one_to_one MONDO:0002335 chronic inflammatory demyelinating polyneuritis ICD10 ICD10:G61.81 inexact @@ -11650,7 +11692,7 @@ MONDO:0002337 intra-abdominal hemangioma COHD COHD:197239 one_to_one MONDO:0002337 intra-abdominal hemangioma DOID DOID:254 one_to_one MONDO:0002337 intra-abdominal hemangioma ICD10 ICD10:D18.03 one_to_one MONDO:0002337 intra-abdominal hemangioma ICD9 ICD9:228.04 one_to_one -MONDO:0002337 intra-abdominal hemangioma MONDO MONDO:0006500,MONDO:0024505 subclass +MONDO:0002337 intra-abdominal hemangioma MONDO MONDO:0006500,MONDO:0044965 subclass MONDO:0002337 intra-abdominal hemangioma NCIT NCIT:C3635 one_to_one MONDO:0002337 intra-abdominal hemangioma SCTID SCTID:189197001 one_to_one MONDO:0002337 intra-abdominal hemangioma UBERON UBERON:0003684 disease_has_location @@ -11747,7 +11789,7 @@ MONDO:0002356 pancreas disease DOID DOID:26 one_to_one MONDO:0002356 pancreas disease ICD10 ICD10:K86.8 one_to_one MONDO:0002356 pancreas disease ICD9 ICD9:577.8,ICD9:577.9 inexact MONDO:0002356 pancreas disease MESH MESH:D010182 one_to_one -MONDO:0002356 pancreas disease MONDO MONDO:0000001,MONDO:0004335,MONDO:0005151,MONDO:0024505 subclass +MONDO:0002356 pancreas disease MONDO MONDO:0000001,MONDO:0004335,MONDO:0005151 subclass MONDO:0002356 pancreas disease NCIT NCIT:C26842 one_to_one MONDO:0002356 pancreas disease SCTID SCTID:3855007 one_to_one MONDO:0002356 pancreas disease UBERON UBERON:0001264 disease_has_location @@ -11986,6 +12028,7 @@ MONDO:0002399 tenosynovial giant cell tumor, localized type NCIT NCIT:C6532 one_ MONDO:0002399 tenosynovial giant cell tumor, localized type SCTID SCTID:95413004 one_to_one MONDO:0002399 tenosynovial giant cell tumor, localized type UMLS UMLS:C0588125 one_to_one MONDO:0002400 synovitis (disease) DOID DOID:2703 one_to_one +MONDO:0002400 synovitis (disease) EFO EFO:0008997 one_to_one MONDO:0002400 synovitis (disease) GARD GARD:0007722 one_to_one MONDO:0002400 synovitis (disease) HP HP:0100769 one_to_one MONDO:0002400 synovitis (disease) MESH MESH:D013585 one_to_one @@ -12130,6 +12173,7 @@ MONDO:0002422 adamantinoma MONDO MONDO:0002415 subclass MONDO:0002422 adamantinoma NCIT NCIT:C3303,NCIT:C3399,NCIT:C35907,NCIT:C36130,NCIT:C41040,NCIT:C41457,NCIT:C53965,NCIT:C53966 has_finding MONDO:0002422 adamantinoma NCIT NCIT:C7644 one_to_one MONDO:0002422 adamantinoma OMIM OMIM:102660 one_to_one +MONDO:0002422 adamantinoma ONCOTREE ONCOTREE:ADMA one_to_one MONDO:0002422 adamantinoma Orphanet Orphanet:55881 one_to_one MONDO:0002422 adamantinoma SCTID SCTID:307609003 one_to_one MONDO:0002422 adamantinoma UBERON UBERON:0002495 disease_has_location @@ -12142,7 +12186,7 @@ MONDO:0002423 rectosigmoid junction neoplasm SCTID SCTID:126848003 one_to_one MONDO:0002423 rectosigmoid junction neoplasm UBERON UBERON:0036214 disease_has_location MONDO:0002423 rectosigmoid junction neoplasm UMLS UMLS:C0345873 one_to_one MONDO:0002424 rectosigmoid carcinoma DOID DOID:2781 one_to_one -MONDO:0002424 rectosigmoid carcinoma MONDO MONDO:0002032,MONDO:0002425,MONDO:0004993,MONDO:0024476 subclass +MONDO:0002424 rectosigmoid carcinoma MONDO MONDO:0002032,MONDO:0002425,MONDO:0004993,MONDO:0044937 subclass MONDO:0002424 rectosigmoid carcinoma NCIT NCIT:C7421 one_to_one MONDO:0002424 rectosigmoid carcinoma UBERON UBERON:0036214 disease_has_location MONDO:0002424 rectosigmoid carcinoma UMLS UMLS:C1327709 one_to_one @@ -12260,6 +12304,7 @@ MONDO:0002447 endometrial carcinoma (disease) HP HP:0012114 one_to_one MONDO:0002447 endometrial carcinoma (disease) MONDO MONDO:0004993,MONDO:0005213,MONDO:0011962 subclass MONDO:0002447 endometrial carcinoma (disease) NCIT NCIT:C34818,NCIT:C34937 has_finding MONDO:0002447 endometrial carcinoma (disease) NCIT NCIT:C7558 one_to_one +MONDO:0002447 endometrial carcinoma (disease) ONCOTREE ONCOTREE:UCEC one_to_one MONDO:0002447 endometrial carcinoma (disease) UBERON UBERON:0001295 disease_has_location MONDO:0002447 endometrial carcinoma (disease) UMLS UMLS:C0476089 one_to_one MONDO:0002448 laryngeal sarcoma DOID DOID:2877 one_to_one @@ -12380,7 +12425,7 @@ MONDO:0002467 inner ear disease SCTID SCTID:232297009 one_to_one MONDO:0002467 inner ear disease UBERON UBERON:0001846 disease_has_location MONDO:0002468 hyperimmunoglobulin syndrome DOID DOID:2959 one_to_one MONDO:0002468 hyperimmunoglobulin syndrome GO GO:0019814 disease_has_basis_in_dysfunction_of -MONDO:0002468 hyperimmunoglobulin syndrome MONDO MONDO:0000001,MONDO:0002211,MONDO:0003847,MONDO:0021197 subclass +MONDO:0002468 hyperimmunoglobulin syndrome MONDO MONDO:0000001,MONDO:0002211,MONDO:0003847,MONDO:0044971 subclass MONDO:0002468 hyperimmunoglobulin syndrome NCIT NCIT:C27579 one_to_one MONDO:0002468 hyperimmunoglobulin syndrome UMLS UMLS:C1334069 one_to_one MONDO:0002469 lacrimal gland carcinoma ex pleomorphic adenoma DOID DOID:296 one_to_one @@ -12452,8 +12497,10 @@ MONDO:0002478 mixed germ cell-sex cord-stromal tumor UMLS UMLS:C1321220 one_to_o MONDO:0002479 Sertoli-Leydig cell tumor DOID DOID:2997 one_to_one MONDO:0002479 Sertoli-Leydig cell tumor MESH MESH:D018310 one_to_one MONDO:0002479 Sertoli-Leydig cell tumor MONDO MONDO:0003125 subclass +MONDO:0002479 Sertoli-Leydig cell tumor ONCOTREE ONCOTREE:SLCT one_to_one MONDO:0002479 Sertoli-Leydig cell tumor UMLS UMLS:C0206723 one_to_one MONDO:0002480 endometrioid tumor DOID DOID:3001 one_to_one +MONDO:0002480 endometrioid tumor EFO EFO:0009118 one_to_one MONDO:0002480 endometrioid tumor MONDO MONDO:0001416 excluded_subClassOf MONDO:0002480 endometrioid tumor MONDO MONDO:0005626,MONDO:0021148 subclass MONDO:0002480 endometrioid tumor NCIT NCIT:C7113 one_to_one @@ -12499,6 +12546,7 @@ MONDO:0002489 malignant breast phyllodes tumor EFO EFO:0008545 one_to_one MONDO:0002489 malignant breast phyllodes tumor MONDO MONDO:0007254,MONDO:0021047,MONDO:0037003 subclass MONDO:0002489 malignant breast phyllodes tumor NCIT NCIT:C35859,NCIT:C35860,NCIT:C49120 has_finding MONDO:0002489 malignant breast phyllodes tumor NCIT NCIT:C4504 one_to_one +MONDO:0002489 malignant breast phyllodes tumor ONCOTREE ONCOTREE:MPT one_to_one MONDO:0002489 malignant breast phyllodes tumor PATO PATO:0002097 has_modifier MONDO:0002489 malignant breast phyllodes tumor SCTID SCTID:254844000 one_to_one MONDO:0002490 breast sarcoma DOID DOID:3017 one_to_one @@ -12783,7 +12831,7 @@ MONDO:0002545 spinal cord disease DOID DOID:319 one_to_one MONDO:0002545 spinal cord disease ICD10 ICD10:G95.9 one_to_one MONDO:0002545 spinal cord disease ICD9 ICD9:336.8,ICD9:336.9 inexact MONDO:0002545 spinal cord disease MESH MESH:D013118 one_to_one -MONDO:0002545 spinal cord disease MONDO MONDO:0000001,MONDO:0002602,MONDO:0024505 subclass +MONDO:0002545 spinal cord disease MONDO MONDO:0000001,MONDO:0002602 subclass MONDO:0002545 spinal cord disease NCIT NCIT:C97110 one_to_one MONDO:0002545 spinal cord disease SCTID SCTID:48522003 one_to_one MONDO:0002545 spinal cord disease UBERON UBERON:0002240 disease_has_location @@ -12808,6 +12856,7 @@ MONDO:0002547 nerve sheath neoplasm DOID DOID:3193 one_to_one MONDO:0002547 nerve sheath neoplasm MESH MESH:D018317 one_to_one MONDO:0002547 nerve sheath neoplasm MONDO MONDO:0001406,MONDO:0005070 subclass MONDO:0002547 nerve sheath neoplasm NCIT NCIT:C4972 one_to_one +MONDO:0002547 nerve sheath neoplasm ONCOTREE ONCOTREE:NST one_to_one MONDO:0002548 cellular schwannoma DOID DOID:3196 one_to_one MONDO:0002548 cellular schwannoma ICD9 ICD9:215.9 inexact MONDO:0002548 cellular schwannoma MONDO MONDO:0002546 subclass @@ -12875,7 +12924,7 @@ MONDO:0002559 plexiform schwannoma UMLS UMLS:C1370659 one_to_one MONDO:0002561 lysosomal storage disease DOID DOID:3211 one_to_one MONDO:0002561 lysosomal storage disease GO GO:0005764 disease_has_basis_in_dysfunction_of MONDO:0002561 lysosomal storage disease MESH MESH:D016464 one_to_one -MONDO:0002561 lysosomal storage disease MONDO MONDO:0019052,MONDO:0021197 subclass +MONDO:0002561 lysosomal storage disease MONDO MONDO:0000001,MONDO:0019052,MONDO:0044969 subclass MONDO:0002561 lysosomal storage disease NCIT NCIT:C61250 one_to_one MONDO:0002561 lysosomal storage disease Orphanet Orphanet:68366 one_to_one MONDO:0002561 lysosomal storage disease SCTID SCTID:23585005 one_to_one @@ -13066,6 +13115,7 @@ MONDO:0002598 germinoma (disease) MESH MESH:D018237 one_to_one MONDO:0002598 germinoma (disease) MONDO MONDO:0006290 subclass MONDO:0002598 germinoma (disease) NCIT NCIT:C35984 has_finding MONDO:0002598 germinoma (disease) NCIT NCIT:C3753 one_to_one +MONDO:0002598 germinoma (disease) ONCOTREE ONCOTREE:GMN one_to_one MONDO:0002598 germinoma (disease) UMLS UMLS:C0206660 one_to_one MONDO:0002599 teratocarcinoma DOID DOID:3305 one_to_one MONDO:0002599 teratocarcinoma ICDO ICDO:9081/3 one_to_one @@ -13080,6 +13130,7 @@ MONDO:0002601 teratoma MESH MESH:D013724 one_to_one MONDO:0002601 teratoma MONDO MONDO:0002510,MONDO:0018080,MONDO:0021656 subclass MONDO:0002601 teratoma NCIT NCIT:C54111,NCIT:C54112,NCIT:C54113 has_finding MONDO:0002601 teratoma NCIT NCIT:C3403 one_to_one +MONDO:0002601 teratoma ONCOTREE ONCOTREE:TT one_to_one MONDO:0002601 teratoma SCTID SCTID:36591000119102 one_to_one MONDO:0002602 central nervous system disease DOID DOID:331 one_to_one MONDO:0002602 central nervous system disease ICD10 ICD10:G96.9 one_to_one @@ -13233,6 +13284,7 @@ MONDO:0002629 bone osteosarcoma NCIT NCIT:C53707 one_to_one MONDO:0002629 bone osteosarcoma OMIM OMIM:259500 one_to_one MONDO:0002629 bone osteosarcoma Orphanet Orphanet:668 one_to_one 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 @@ -13285,6 +13337,7 @@ MONDO:0002637 histiocytosis DOID DOID:3405 one_to_one MONDO:0002637 histiocytosis MESH MESH:D015614 one_to_one MONDO:0002637 histiocytosis MONDO MONDO:0005833 subclass MONDO:0002637 histiocytosis NCIT NCIT:C3106 one_to_one +MONDO:0002637 histiocytosis ONCOTREE ONCOTREE:HDCN one_to_one MONDO:0002637 histiocytosis UMLS UMLS:C0019618 one_to_one MONDO:0002638 glossopharyngeal nerve neoplasm DOID DOID:3417 one_to_one MONDO:0002638 glossopharyngeal nerve neoplasm ICD9 ICD9:239.7 inexact @@ -13678,7 +13731,7 @@ 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:0000636,MONDO:0001790,MONDO:0002713,MONDO:0006085 subclass +MONDO:0002712 epidural spinal canal angiolipoma MONDO MONDO:0001790,MONDO:0002713,MONDO:0006085 subclass MONDO:0002712 epidural spinal canal angiolipoma NCIT NCIT:C5424 one_to_one MONDO:0002712 epidural spinal canal angiolipoma UMLS UMLS:C1333416 one_to_one MONDO:0002713 epidural spinal canal neoplasm DOID DOID:3618 one_to_one @@ -13748,13 +13801,15 @@ MONDO:0002722 olfactory nerve neoplasm UBERON UBERON:0001579 disease_has_locatio MONDO:0002722 olfactory nerve neoplasm UMLS UMLS:C0346319 one_to_one MONDO:0002724 mast cell neoplasm CL CL:0000097 disease_has_basis_in_dysfunction_of MONDO:0002724 mast cell neoplasm DOID DOID:3664 one_to_one +MONDO:0002724 mast cell neoplasm EFO EFO:0009000 one_to_one MONDO:0002724 mast cell neoplasm ICD10 ICD10:D47.0 inexact MONDO:0002724 mast cell neoplasm ICD9 ICD9:238.79 inexact -MONDO:0002724 mast cell neoplasm MONDO MONDO:0005070,MONDO:0005170,MONDO:0021197 subclass +MONDO:0002724 mast cell neoplasm MONDO MONDO:0005070,MONDO:0005170 subclass MONDO:0002724 mast cell neoplasm NCIT NCIT:C9295 one_to_one MONDO:0002724 mast cell neoplasm SCTID SCTID:414653009 one_to_one MONDO:0002724 mast cell neoplasm UMLS UMLS:C0334664 one_to_one MONDO:0002726 cutaneous solitary mastocytoma DOID DOID:3666 one_to_one +MONDO:0002726 cutaneous solitary mastocytoma EFO EFO:1001844 one_to_one MONDO:0002726 cutaneous solitary mastocytoma ICDO ICDO:9740/1 inexact MONDO:0002726 cutaneous solitary mastocytoma MESH MESH:D054705 one_to_one MONDO:0002726 cutaneous solitary mastocytoma MONDO MONDO:0002898 excluded_subClassOf @@ -13779,6 +13834,7 @@ MONDO:0002728 rhabdoid tumor MESH MESH:D018335 one_to_one MONDO:0002728 rhabdoid tumor MONDO MONDO:0005564,MONDO:0018078 subclass MONDO:0002728 rhabdoid tumor NCIT NCIT:C35960,NCIT:C36104,NCIT:C36184,NCIT:C53667 has_finding MONDO:0002728 rhabdoid tumor NCIT NCIT:C3808 one_to_one +MONDO:0002728 rhabdoid tumor ONCOTREE ONCOTREE:MRT one_to_one MONDO:0002728 rhabdoid tumor Orphanet Orphanet:69077 one_to_one MONDO:0002728 rhabdoid tumor UMLS UMLS:C0206743 one_to_one MONDO:0002729 rhabdoid tumor of the kidney DOID DOID:3674 one_to_one @@ -13984,7 +14040,7 @@ MONDO:0002764 urethra squamous cell carcinoma ONCOTREE ONCOTREE:USCC one_to_one MONDO:0002764 urethra squamous cell carcinoma UBERON UBERON:0000057 disease_has_location MONDO:0002764 urethra squamous cell carcinoma UMLS UMLS:C1336890 one_to_one MONDO:0002765 plantar verrucous skin carcinoma DOID DOID:3751 one_to_one -MONDO:0002765 plantar verrucous skin carcinoma MONDO MONDO:0002529,MONDO:0006006,MONDO:0024505 subclass +MONDO:0002765 plantar verrucous skin carcinoma MONDO MONDO:0002529,MONDO:0006006,MONDO:0044967 subclass MONDO:0002765 plantar verrucous skin carcinoma NCIT NCIT:C6811 one_to_one MONDO:0002765 plantar verrucous skin carcinoma UBERON UBERON:0008338 disease_has_location MONDO:0002765 plantar verrucous skin carcinoma UMLS UMLS:C1335424 one_to_one @@ -14024,6 +14080,7 @@ 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 @@ -14265,7 +14322,7 @@ MONDO:0002821 trabecular follicular adenocarcinoma MONDO MONDO:0005034 subclass MONDO:0002821 trabecular follicular adenocarcinoma UMLS UMLS:C0334327 one_to_one MONDO:0002822 trabecular adenocarcinoma DOID DOID:3965 one_to_one MONDO:0002822 trabecular adenocarcinoma ICDO ICDO:8190/3,ICDO:8332/3 inexact -MONDO:0002822 trabecular adenocarcinoma MONDO MONDO:0004970,MONDO:0021199 subclass +MONDO:0002822 trabecular adenocarcinoma MONDO MONDO:0004970 subclass MONDO:0002822 trabecular adenocarcinoma NCIT NCIT:C35913 has_finding MONDO:0002822 trabecular adenocarcinoma NCIT NCIT:C4068 one_to_one MONDO:0002822 trabecular adenocarcinoma UBERON UBERON:0000440 disease_has_location @@ -14289,6 +14346,7 @@ MONDO:0002829 Bartholin gland carcinoma UBERON UBERON:0000460 disease_has_locati MONDO:0002829 Bartholin gland carcinoma UMLS UMLS:C0349561 one_to_one MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma DOID DOID:4003 one_to_one MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma ICDO ICDO:8121/3 one_to_one +MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma MONDO MONDO:0001748 excluded_subClassOf MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma MONDO MONDO:0044787 subclass MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma NCIT NCIT:C54287 one_to_one MONDO:0002831 non-keratinizing sinonasal squamous cell carcinoma ONCOTREE ONCOTREE:SNSC one_to_one @@ -14570,7 +14628,7 @@ 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:0024505 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 @@ -14805,6 +14863,7 @@ MONDO:0002926 clear cell sarcoma ICDO ICDO:9044/3 one_to_one MONDO:0002926 clear cell sarcoma MESH MESH:D018227 one_to_one MONDO:0002926 clear cell sarcoma MONDO MONDO:0018078 subclass MONDO:0002926 clear cell sarcoma NCIT NCIT:C3745 one_to_one +MONDO:0002926 clear cell sarcoma ONCOTREE ONCOTREE:CCS one_to_one MONDO:0002926 clear cell sarcoma SCTID SCTID:402561003 one_to_one MONDO:0002926 clear cell sarcoma UMLS UMLS:C0206651 one_to_one MONDO:0002927 spindle cell sarcoma DOID DOID:4235 one_to_one @@ -14893,7 +14952,7 @@ MONDO:0002940 anal margin basal cell carcinoma NCIT NCIT:C7473 one_to_one MONDO:0002940 anal margin basal cell carcinoma UBERON UBERON:0012336 disease_has_location MONDO:0002940 anal margin basal cell carcinoma UMLS UMLS:C1332269 one_to_one MONDO:0002941 anal margin carcinoma DOID DOID:4284 one_to_one -MONDO:0002941 anal margin carcinoma MONDO MONDO:0002656,MONDO:0003199,MONDO:0004993 subclass +MONDO:0002941 anal margin carcinoma MONDO MONDO:0002656,MONDO:0003199,MONDO:0004993,MONDO:0044965 subclass MONDO:0002941 anal margin carcinoma NCIT NCIT:C7472 one_to_one MONDO:0002941 anal margin carcinoma UBERON UBERON:0012336 disease_has_location MONDO:0002941 anal margin carcinoma UMLS UMLS:C0349534 one_to_one @@ -15208,6 +15267,7 @@ MONDO:0003001 seminoma MESH MESH:D018239 one_to_one MONDO:0003001 seminoma MONDO MONDO:0006290 subclass MONDO:0003001 seminoma NCIT NCIT:C35380,NCIT:C36184 has_finding MONDO:0003001 seminoma NCIT NCIT:C9309 one_to_one +MONDO:0003001 seminoma ONCOTREE ONCOTREE:SEM one_to_one MONDO:0003001 seminoma SCTID SCTID:443675005 one_to_one MONDO:0003002 dysgerminoma (disease) DOID DOID:4441 one_to_one MONDO:0003002 dysgerminoma (disease) HP HP:0100621 one_to_one @@ -15566,7 +15626,7 @@ MONDO:0003069 suppurative lymphadenitis NCIT NCIT:C27135 one_to_one MONDO:0003069 suppurative lymphadenitis SCTID SCTID:48573006 one_to_one MONDO:0003069 suppurative lymphadenitis UMLS UMLS:C0392051 one_to_one MONDO:0003070 axillary lymphadenitis DOID DOID:4640 one_to_one -MONDO:0003070 axillary lymphadenitis MONDO MONDO:0002052,MONDO:0024505 subclass +MONDO:0003070 axillary lymphadenitis MONDO MONDO:0002052 subclass MONDO:0003070 axillary lymphadenitis NCIT NCIT:C27333 one_to_one MONDO:0003070 axillary lymphadenitis UBERON UBERON:0009472 disease_has_location MONDO:0003070 axillary lymphadenitis UMLS UMLS:C0919797 one_to_one @@ -15624,7 +15684,7 @@ MONDO:0003083 venous hemangioma DOID DOID:467 one_to_one MONDO:0003083 venous hemangioma GO GO:0048845 disease_has_basis_in_disruption_of MONDO:0003083 venous hemangioma ICD9 ICD9:228.09 inexact MONDO:0003083 venous hemangioma ICDO ICDO:9122/0 one_to_one -MONDO:0003083 venous hemangioma MONDO MONDO:0006500,MONDO:0021147 subclass +MONDO:0003083 venous hemangioma MONDO MONDO:0006500,MONDO:0024239 subclass MONDO:0003083 venous hemangioma NCIT NCIT:C4296 one_to_one MONDO:0003083 venous hemangioma SCTID SCTID:403968005 one_to_one MONDO:0003083 venous hemangioma UMLS UMLS:C0334532 one_to_one @@ -15797,6 +15857,7 @@ MONDO:0003119 histiocytoid hemangioma UMLS UMLS:C0205788 one_to_one MONDO:0003120 mixed testicular germ cell cancer DOID DOID:4743 one_to_one MONDO:0003120 mixed testicular germ cell cancer MONDO MONDO:0003510,MONDO:0015864 subclass MONDO:0003120 mixed testicular germ cell cancer NCIT NCIT:C6347 one_to_one +MONDO:0003120 mixed testicular germ cell cancer ONCOTREE ONCOTREE:MGCT one_to_one MONDO:0003120 mixed testicular germ cell cancer PATO PATO:0002097 has_modifier MONDO:0003120 mixed testicular germ cell cancer UBERON UBERON:0000473 disease_has_location MONDO:0003120 mixed testicular germ cell cancer UMLS UMLS:C1336720 one_to_one @@ -15959,7 +16020,7 @@ MONDO:0003155 cavernous hemangioma HP HP:0001048 one_to_one MONDO:0003155 cavernous hemangioma ICD10 ICD10:D18.0 inexact MONDO:0003155 cavernous hemangioma ICDO ICDO:9121/0 one_to_one MONDO:0003155 cavernous hemangioma MESH MESH:D006392 one_to_one -MONDO:0003155 cavernous hemangioma MONDO MONDO:0003159,MONDO:0006500 subclass +MONDO:0003155 cavernous hemangioma MONDO MONDO:0002334,MONDO:0003159,MONDO:0006500 subclass MONDO:0003155 cavernous hemangioma NCIT NCIT:C49114 has_finding MONDO:0003155 cavernous hemangioma NCIT NCIT:C3086 one_to_one MONDO:0003155 cavernous hemangioma SCTID SCTID:416824008 one_to_one @@ -15976,6 +16037,7 @@ MONDO:0003158 malignant myoepithelioma ICDO ICDO:8982/3 one_to_one MONDO:0003158 malignant myoepithelioma MONDO MONDO:0002380,MONDO:0004993 subclass MONDO:0003158 malignant myoepithelioma NCIT NCIT:C35891,NCIT:C36117 has_finding MONDO:0003158 malignant myoepithelioma NCIT NCIT:C7596 one_to_one +MONDO:0003158 malignant myoepithelioma ONCOTREE ONCOTREE:STMYEC one_to_one MONDO:0003158 malignant myoepithelioma UMLS UMLS:C0334699 one_to_one MONDO:0003159 vascular hemostatic disease DOID DOID:484 one_to_one MONDO:0003159 vascular hemostatic disease MESH MESH:D020141 one_to_one @@ -16152,7 +16214,7 @@ MONDO:0003198 small intestine adenocarcinoma SCTID SCTID:424440001 one_to_one MONDO:0003198 small intestine adenocarcinoma UBERON UBERON:0002108 disease_has_location MONDO:0003198 small intestine adenocarcinoma UMLS UMLS:C0278803 one_to_one MONDO:0003199 anal carcinoma DOID DOID:4908 one_to_one -MONDO:0003199 anal carcinoma MONDO MONDO:0001879,MONDO:0004993,MONDO:0024331,MONDO:0024476 subclass +MONDO:0003199 anal carcinoma MONDO MONDO:0001879,MONDO:0004993,MONDO:0044937 subclass MONDO:0003199 anal carcinoma NCIT NCIT:C9291 one_to_one MONDO:0003199 anal carcinoma SCTID SCTID:448315008 one_to_one MONDO:0003199 anal carcinoma UBERON UBERON:0001245 disease_has_location @@ -16164,7 +16226,7 @@ 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:0004805,MONDO:0017582,MONDO:0020008 subclass +MONDO:0003202 pituitary gland basophilic carcinoma MONDO MONDO:0000621,MONDO:0003641,MONDO:0004805,MONDO:0017582,MONDO:0020008 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 @@ -16251,6 +16313,7 @@ MONDO:0003219 gastroesophageal junction adenocarcinoma DOID DOID:4944 one_to_one MONDO:0003219 gastroesophageal junction adenocarcinoma MONDO MONDO:0004970,MONDO:0006181 subclass MONDO:0003219 gastroesophageal junction adenocarcinoma NCIT NCIT:C26682,NCIT:C2980,NCIT:C3445 has_finding MONDO:0003219 gastroesophageal junction adenocarcinoma NCIT NCIT:C9296 one_to_one +MONDO:0003219 gastroesophageal junction adenocarcinoma ONCOTREE ONCOTREE:EGC,ONCOTREE:GEJ inexact MONDO:0003219 gastroesophageal junction adenocarcinoma UBERON UBERON:0007650 disease_has_location MONDO:0003219 gastroesophageal junction adenocarcinoma UMLS UMLS:C1332166 one_to_one MONDO:0003220 gallbladder carcinoma DOID DOID:4948 one_to_one @@ -16456,6 +16519,7 @@ MONDO:0003261 papillary meningioma of the cerebellum UMLS UMLS:C1332902 one_to_o MONDO:0003262 rhabdoid meningioma DOID DOID:5058 one_to_one MONDO:0003262 rhabdoid meningioma MONDO MONDO:0016642 subclass MONDO:0003262 rhabdoid meningioma NCIT NCIT:C6909 one_to_one +MONDO:0003262 rhabdoid meningioma ONCOTREE ONCOTREE:RHM one_to_one MONDO:0003262 rhabdoid meningioma UMLS UMLS:C0259786 one_to_one MONDO:0003263 childhood cerebellar neoplasm DOID DOID:5059 one_to_one MONDO:0003263 childhood cerebellar neoplasm MONDO MONDO:0002913,MONDO:0002915 subclass @@ -16481,6 +16545,7 @@ MONDO:0003266 ependymal tumor EFO EFO:1000027 one_to_one MONDO:0003266 ependymal tumor ICD10 ICD10:C71.7 inexact MONDO:0003266 ependymal tumor MONDO MONDO:0005070,MONDO:0021042 subclass MONDO:0003266 ependymal tumor NCIT NCIT:C6770 one_to_one +MONDO:0003266 ependymal tumor ONCOTREE ONCOTREE:EPMT one_to_one MONDO:0003266 ependymal tumor Orphanet Orphanet:301 one_to_one MONDO:0003266 ependymal tumor UBERON UBERON:0004670 disease_arises_from_structure MONDO:0003266 ependymal tumor UMLS UMLS:C1333407,UMLS:CN203416 inexact @@ -16514,6 +16579,7 @@ MONDO:0003274 thoracic cancer UBERON UBERON:0000915 disease_has_location MONDO:0003274 thoracic cancer UMLS UMLS:C0153661 one_to_one MONDO:0003275 middle ear cancer DOID DOID:5099 one_to_one MONDO:0003275 middle ear cancer MONDO MONDO:0003277,MONDO:0004532,MONDO:0004992,MONDO:0021366 subclass +MONDO:0003275 middle ear cancer NCIT NCIT:C4765 one_to_one MONDO:0003275 middle ear cancer SCTID SCTID:363359008 one_to_one MONDO:0003275 middle ear cancer UBERON UBERON:0001756 disease_has_location MONDO:0003276 middle ear disease COHD COHD:374364 one_to_one @@ -16699,6 +16765,7 @@ MONDO:0003308 pleural mesothelioma EFO EFO:1000485 one_to_one MONDO:0003308 pleural mesothelioma HP HP:0100002 one_to_one MONDO:0003308 pleural mesothelioma MONDO MONDO:0005065,MONDO:0021065 subclass MONDO:0003308 pleural mesothelioma NCIT NCIT:C9351 one_to_one +MONDO:0003308 pleural mesothelioma ONCOTREE ONCOTREE:PLMESO one_to_one MONDO:0003308 pleural mesothelioma SCTID SCTID:109372009 one_to_one MONDO:0003308 pleural mesothelioma UBERON UBERON:0000977 disease_has_location MONDO:0003310 Monckeberg arteriosclerosis DOID DOID:5161 one_to_one @@ -16754,7 +16821,7 @@ MONDO:0003318 mixed cell type kidney Wilms' tumor UMLS UMLS:C0279611 one_to_one MONDO:0003319 scrotum neoplasm DOID DOID:518 one_to_one MONDO:0003319 scrotum neoplasm ICD10 ICD10:C63.2 inexact MONDO:0003319 scrotum neoplasm ICD9 ICD9:187.7,ICD9:239.5 inexact -MONDO:0003319 scrotum neoplasm MONDO MONDO:0005070,MONDO:0024505,MONDO:0024582 subclass +MONDO:0003319 scrotum neoplasm MONDO MONDO:0005070,MONDO:0024582 subclass MONDO:0003319 scrotum neoplasm NCIT NCIT:C4380 one_to_one MONDO:0003319 scrotum neoplasm SCTID SCTID:126905005 one_to_one MONDO:0003319 scrotum neoplasm UBERON UBERON:0001300 disease_has_location @@ -16850,6 +16917,7 @@ MONDO:0003340 malignant glomus tumor DOID DOID:5233 one_to_one MONDO:0003340 malignant glomus tumor ICDO ICDO:8710/3,ICDO:8711/3 inexact MONDO:0003340 malignant glomus tumor MONDO MONDO:0004992,MONDO:0018327 subclass MONDO:0003340 malignant glomus tumor NCIT NCIT:C4221 one_to_one +MONDO:0003340 malignant glomus tumor ONCOTREE ONCOTREE:MGST one_to_one MONDO:0003340 malignant glomus tumor PATO PATO:0002097 has_modifier MONDO:0003340 malignant glomus tumor UMLS UMLS:C1266111 one_to_one MONDO:0003341 subungual glomus tumor DOID DOID:5236 one_to_one @@ -17071,6 +17139,7 @@ MONDO:0003382 eyelid disease ICD10 ICD10:H00,ICD10:H02.9 inexact MONDO:0003382 eyelid disease ICD9 ICD9:374.89,ICD9:374.9 inexact MONDO:0003382 eyelid disease MESH MESH:D005141 one_to_one MONDO:0003382 eyelid disease MONDO MONDO:0000001,MONDO:0000462,MONDO:0005328 subclass +MONDO:0003382 eyelid disease NCIT NCIT:C26768 one_to_one MONDO:0003382 eyelid disease SCTID SCTID:60113004 one_to_one MONDO:0003382 eyelid disease UBERON UBERON:0001711 disease_has_location MONDO:0003383 fallopian tube clear cell adenocarcinoma DOID DOID:5301 one_to_one @@ -17176,6 +17245,7 @@ MONDO:0003402 testicular yolk sac tumor EFO EFO:1000574 one_to_one MONDO:0003402 testicular yolk sac tumor GARD GARD:0000348 one_to_one MONDO:0003402 testicular yolk sac tumor MONDO MONDO:0002874,MONDO:0003403,MONDO:0005744 subclass MONDO:0003402 testicular yolk sac tumor NCIT NCIT:C8000 one_to_one +MONDO:0003402 testicular yolk sac tumor ONCOTREE ONCOTREE:TYST one_to_one MONDO:0003402 testicular yolk sac tumor UBERON UBERON:0000473 disease_has_location MONDO:0003402 testicular yolk sac tumor UMLS UMLS:C0279708 one_to_one MONDO:0003403 testicular non-seminomatous germ cell cancer DOID DOID:5345 one_to_one @@ -17185,13 +17255,13 @@ MONDO:0003403 testicular non-seminomatous germ cell cancer PATO PATO:0002097 has MONDO:0003403 testicular non-seminomatous germ cell cancer UMLS UMLS:C1334625 one_to_one MONDO:0003404 adult yolk sac tumor DOID DOID:5348 one_to_one MONDO:0003404 adult yolk sac tumor HP HP:0003581 has_modifier -MONDO:0003404 adult yolk sac tumor MONDO MONDO:0005744 subclass +MONDO:0003404 adult yolk sac tumor MONDO MONDO:0005744,MONDO:0044878 subclass MONDO:0003404 adult yolk sac tumor NCIT NCIT:C60643 has_finding MONDO:0003404 adult yolk sac tumor NCIT NCIT:C27241 one_to_one MONDO:0003404 adult yolk sac tumor UMLS UMLS:C1332221 one_to_one MONDO:0003405 adult central nervous system germ cell tumor DOID DOID:5349 one_to_one MONDO:0003405 adult central nervous system germ cell tumor HP HP:0003581 has_modifier -MONDO:0003405 adult central nervous system germ cell tumor MONDO MONDO:0003000 subclass +MONDO:0003405 adult central nervous system germ cell tumor MONDO MONDO:0003000,MONDO:0044878 subclass MONDO:0003405 adult central nervous system germ cell tumor NCIT NCIT:C6285 one_to_one MONDO:0003405 adult central nervous system germ cell tumor UMLS UMLS:C0280796 one_to_one MONDO:0003406 sleep wake disorder DOID DOID:535 one_to_one @@ -17201,7 +17271,7 @@ MONDO:0003406 sleep wake disorder ICD10 ICD10:G47 one_to_one MONDO:0003406 sleep wake disorder ICD9 ICD9:307.4,ICD9:307.40,ICD9:307.49 inexact MONDO:0003406 sleep wake disorder MESH MESH:D012893 one_to_one MONDO:0003406 sleep wake disorder MONDO MONDO:0002025,MONDO:0005071 excluded_subClassOf -MONDO:0003406 sleep wake disorder MONDO MONDO:0000001,MONDO:0021195 subclass +MONDO:0003406 sleep wake disorder MONDO MONDO:0000001 subclass MONDO:0003406 sleep wake disorder NCIT NCIT:C3376 one_to_one MONDO:0003406 sleep wake disorder SCTID SCTID:39898005 one_to_one MONDO:0003408 ovarian primitive germ cell tumor DOID DOID:5351 one_to_one @@ -17553,6 +17623,7 @@ 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 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 MONDO:0003477 brain stem ependymoma DOID DOID:5508 one_to_one MONDO:0003477 brain stem ependymoma MONDO MONDO:0002911,MONDO:0004245,MONDO:0016698,MONDO:0021191 subclass MONDO:0003477 brain stem ependymoma NCIT NCIT:C5098 one_to_one @@ -17578,6 +17649,7 @@ MONDO:0003481 dysgerminoma of ovary EFO EFO:1000414 one_to_one MONDO:0003481 dysgerminoma of ovary MONDO MONDO:0003002,MONDO:0003408 subclass MONDO:0003481 dysgerminoma of ovary NCIT NCIT:C26682,NCIT:C34333 has_finding MONDO:0003481 dysgerminoma of ovary NCIT NCIT:C8106 one_to_one +MONDO:0003481 dysgerminoma of ovary ONCOTREE ONCOTREE:ODYS one_to_one MONDO:0003481 dysgerminoma of ovary SCTID SCTID:254874008 one_to_one MONDO:0003481 dysgerminoma of ovary UBERON UBERON:0000992 disease_has_location MONDO:0003481 dysgerminoma of ovary UMLS UMLS:C0346185 one_to_one @@ -17593,14 +17665,14 @@ MONDO:0003486 basaloid squamous cell carcinoma ICDO ICDO:8083/3 one_to_one MONDO:0003486 basaloid squamous cell carcinoma MONDO MONDO:0005096,MONDO:0006102 subclass MONDO:0003486 basaloid squamous cell carcinoma NCIT NCIT:C54244 one_to_one MONDO:0003486 basaloid squamous cell carcinoma UMLS UMLS:C1266005 one_to_one -MONDO:0003487 adenoid squamous cell carcinoma DOID DOID:5524 one_to_one -MONDO:0003487 adenoid squamous cell carcinoma ICDO ICDO:8075/3 one_to_one -MONDO:0003487 adenoid squamous cell carcinoma MONDO MONDO:0000535,MONDO:0005096,MONDO:0015459 subclass -MONDO:0003487 adenoid squamous cell carcinoma NCIT NCIT:C35921 has_finding -MONDO:0003487 adenoid squamous cell carcinoma NCIT NCIT:C4106 one_to_one -MONDO:0003487 adenoid squamous cell carcinoma SCTID SCTID:403901001 one_to_one -MONDO:0003487 adenoid squamous cell carcinoma UBERON UBERON:0001732 disease_has_location -MONDO:0003487 adenoid squamous cell carcinoma UMLS UMLS:C0334250,UMLS:C0334393 inexact +MONDO:0003487 pseudoglandular squamous cell carcinoma DOID DOID:5524 one_to_one +MONDO:0003487 pseudoglandular squamous cell carcinoma ICDO ICDO:8075/3 one_to_one +MONDO:0003487 pseudoglandular squamous cell carcinoma MONDO MONDO:0000535 excluded_subClassOf +MONDO:0003487 pseudoglandular squamous cell carcinoma MONDO MONDO:0005096 subclass +MONDO:0003487 pseudoglandular squamous cell carcinoma NCIT NCIT:C35921 has_finding +MONDO:0003487 pseudoglandular squamous cell carcinoma NCIT NCIT:C4106 one_to_one +MONDO:0003487 pseudoglandular squamous cell carcinoma SCTID SCTID:403901001 one_to_one +MONDO:0003487 pseudoglandular squamous cell carcinoma UMLS UMLS:C0334250,UMLS:C0334393 inexact MONDO:0003490 ampulla of vater squamous cell carcinoma DOID DOID:5527 one_to_one MONDO:0003490 ampulla of vater squamous cell carcinoma MONDO MONDO:0005096,MONDO:0006203,MONDO:0017590,MONDO:0018509 subclass MONDO:0003490 ampulla of vater squamous cell carcinoma NCIT NCIT:C26682,NCIT:C2875,NCIT:C3143,NCIT:C3258,NCIT:C3344,NCIT:C3442,NCIT:C3445,NCIT:C3832 has_finding @@ -17688,6 +17760,7 @@ MONDO:0003508 choriocarcinoma of testis DOID DOID:5551 one_to_one MONDO:0003508 choriocarcinoma of testis EFO EFO:1000564 one_to_one MONDO:0003508 choriocarcinoma of testis MONDO MONDO:0002871,MONDO:0003403,MONDO:0005207 subclass MONDO:0003508 choriocarcinoma of testis NCIT NCIT:C7733 one_to_one +MONDO:0003508 choriocarcinoma of testis ONCOTREE ONCOTREE:TCCA one_to_one MONDO:0003508 choriocarcinoma of testis UBERON UBERON:0000473 disease_has_location MONDO:0003508 choriocarcinoma of testis UMLS UMLS:C0238449 one_to_one MONDO:0003509 pineal region choriocarcinoma DOID DOID:5553 one_to_one @@ -17723,7 +17796,7 @@ MONDO:0003515 fallopian tube teratoma UBERON UBERON:0003889 disease_has_location MONDO:0003515 fallopian tube teratoma UMLS UMLS:C1517127 one_to_one MONDO:0003516 adult teratoma DOID DOID:5565 one_to_one MONDO:0003516 adult teratoma HP HP:0003581 has_modifier -MONDO:0003516 adult teratoma MONDO MONDO:0002601 subclass +MONDO:0003516 adult teratoma MONDO MONDO:0002601,MONDO:0044878 subclass MONDO:0003516 adult teratoma NCIT NCIT:C60643 has_finding MONDO:0003516 adult teratoma NCIT NCIT:C9013 one_to_one MONDO:0003516 adult teratoma UMLS UMLS:C1368898 one_to_one @@ -17732,6 +17805,7 @@ MONDO:0003517 mature teratoma ICDO ICDO:9080/0 one_to_one MONDO:0003517 mature teratoma MONDO MONDO:0002601 subclass MONDO:0003517 mature teratoma NCIT NCIT:C54107 has_finding MONDO:0003517 mature teratoma NCIT NCIT:C9015 one_to_one +MONDO:0003517 mature teratoma ONCOTREE ONCOTREE:VMT one_to_one MONDO:0003517 mature teratoma SCTID SCTID:254875009 one_to_one MONDO:0003517 mature teratoma UMLS UMLS:C1368910 one_to_one MONDO:0003518 mediastinum teratoma DOID DOID:5568 one_to_one @@ -17778,7 +17852,7 @@ MONDO:0003528 Volkmann contracture ICD10 ICD10:T79.6 one_to_one MONDO:0003528 Volkmann contracture ICD9 ICD9:958.6 one_to_one MONDO:0003528 Volkmann contracture MESH MESH:D054061 one_to_one MONDO:0003528 Volkmann contracture MONDO MONDO:0003900 excluded_subClassOf -MONDO:0003528 Volkmann contracture MONDO MONDO:0020120,MONDO:0024505 subclass +MONDO:0003528 Volkmann contracture MONDO MONDO:0020120,MONDO:0044967 subclass MONDO:0003528 Volkmann contracture NCIT NCIT:C35130 one_to_one MONDO:0003528 Volkmann contracture SCTID SCTID:111247001 one_to_one MONDO:0003528 Volkmann contracture UBERON UBERON:0002102 disease_has_location @@ -17821,7 +17895,8 @@ MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia MONDO MONDO:0003538,MO MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia NCIT NCIT:C8694 one_to_one MONDO:0003537 precursor T-lymphoblastic lymphoma/leukemia UMLS UMLS:C1301359 one_to_one MONDO:0003538 precursor lymphoblastic lymphoma/leukemia DOID DOID:5600 one_to_one -MONDO:0003538 precursor lymphoblastic lymphoma/leukemia MONDO MONDO:0001018 subclass +MONDO:0003538 precursor lymphoblastic lymphoma/leukemia EFO EFO:0009119 one_to_one +MONDO:0003538 precursor lymphoblastic lymphoma/leukemia MONDO MONDO:0001018,MONDO:0005157 subclass MONDO:0003538 precursor lymphoblastic lymphoma/leukemia NCIT NCIT:C3100,NCIT:C50764 has_finding MONDO:0003538 precursor lymphoblastic lymphoma/leukemia NCIT NCIT:C7055 one_to_one MONDO:0003538 precursor lymphoblastic lymphoma/leukemia UMLS UMLS:C1335469 one_to_one @@ -18025,6 +18100,7 @@ MONDO:0003581 ovarian embryonal carcinoma EFO EFO:1000415 one_to_one MONDO:0003581 ovarian embryonal carcinoma MONDO MONDO:0005440,MONDO:0016096 subclass MONDO:0003581 ovarian embryonal carcinoma NCIT NCIT:C26682,NCIT:C34333 has_finding MONDO:0003581 ovarian embryonal carcinoma NCIT NCIT:C8108 one_to_one +MONDO:0003581 ovarian embryonal carcinoma ONCOTREE ONCOTREE:OEC one_to_one MONDO:0003581 ovarian embryonal carcinoma SCTID SCTID:254872007 one_to_one MONDO:0003581 ovarian embryonal carcinoma UBERON UBERON:0000992 disease_has_location MONDO:0003581 ovarian embryonal carcinoma UMLS UMLS:C0346183 one_to_one @@ -18164,7 +18240,7 @@ MONDO:0003606 adrenal medulla cancer UMLS UMLS:C0344456 one_to_one MONDO:0003607 neuritis of upper limb DOID DOID:572 one_to_one MONDO:0003607 neuritis of upper limb ICD9 ICD9:354 one_to_one MONDO:0003607 neuritis of upper limb MONDO MONDO:0002121 excluded_subClassOf -MONDO:0003607 neuritis of upper limb MONDO MONDO:0002122,MONDO:0024505 subclass +MONDO:0003607 neuritis of upper limb MONDO MONDO:0002122,MONDO:0044967 subclass MONDO:0003607 neuritis of upper limb UBERON UBERON:0002102 disease_has_location MONDO:0003608 optic atrophy COHD COHD:372914 one_to_one MONDO:0003608 optic atrophy DOID DOID:5723 one_to_one @@ -18281,6 +18357,7 @@ MONDO:0003628 pulmonary valve disease UBERON UBERON:0002146 disease_has_location MONDO:0003628 pulmonary valve disease UMLS UMLS:C0034087 one_to_one MONDO:0003629 uterine corpus serous adenocarcinoma DOID DOID:5750 one_to_one MONDO:0003629 uterine corpus serous adenocarcinoma MONDO MONDO:0005213,MONDO:0005278,MONDO:0006003 subclass +MONDO:0003629 uterine corpus serous adenocarcinoma ONCOTREE ONCOTREE:USC one_to_one MONDO:0003629 uterine corpus serous adenocarcinoma UBERON UBERON:0009853 disease_has_location MONDO:0003629 uterine corpus serous adenocarcinoma UMLS UMLS:C1336921 one_to_one MONDO:0003630 pancreatic serous cystadenocarcinoma DOID DOID:5751 one_to_one @@ -18348,7 +18425,7 @@ MONDO:0003640 verruciform xanthoma of skin SCTID SCTID:254756007 one_to_one MONDO:0003640 verruciform xanthoma of skin UMLS UMLS:C0346054 one_to_one MONDO:0003641 central nervous system hematopoietic neoplasm DOID DOID:5772 one_to_one MONDO:0003641 central nervous system hematopoietic neoplasm MONDO MONDO:0002714 excluded_subClassOf -MONDO:0003641 central nervous system hematopoietic neoplasm MONDO MONDO:0002334,MONDO:0006130 subclass +MONDO:0003641 central nervous system hematopoietic neoplasm MONDO MONDO:0002334,MONDO:0006130,MONDO:0044881 subclass MONDO:0003641 central nervous system hematopoietic neoplasm NCIT NCIT:C5503 one_to_one MONDO:0003641 central nervous system hematopoietic neoplasm UBERON UBERON:0001017 disease_has_location MONDO:0003641 central nervous system hematopoietic neoplasm UMLS UMLS:C1332882 one_to_one @@ -18473,6 +18550,7 @@ MONDO:0003665 cervical endometrioid adenocarcinoma EFO EFO:1000164 one_to_one MONDO:0003665 cervical endometrioid adenocarcinoma MONDO MONDO:0005026,MONDO:0005153 subclass MONDO:0003665 cervical endometrioid adenocarcinoma NCIT NCIT:C26945,NCIT:C50795 has_finding MONDO:0003665 cervical endometrioid adenocarcinoma NCIT NCIT:C6343 one_to_one +MONDO:0003665 cervical endometrioid adenocarcinoma ONCOTREE ONCOTREE:CEEN one_to_one MONDO:0003665 cervical endometrioid adenocarcinoma UBERON UBERON:0000002 disease_has_location MONDO:0003665 cervical endometrioid adenocarcinoma UMLS UMLS:C1332913 one_to_one MONDO:0003666 fallopian tube endometrioid adenocarcinoma DOID DOID:5831 one_to_one @@ -18685,6 +18763,7 @@ MONDO:0003710 ovarian mixed germ cell neoplasm DOID DOID:5936 one_to_one MONDO:0003710 ovarian mixed germ cell neoplasm MONDO MONDO:0003408,MONDO:0015864 subclass MONDO:0003710 ovarian mixed germ cell neoplasm NCIT NCIT:C26682,NCIT:C34333 has_finding MONDO:0003710 ovarian mixed germ cell neoplasm NCIT NCIT:C8114 one_to_one +MONDO:0003710 ovarian mixed germ cell neoplasm ONCOTREE ONCOTREE:OMGCT one_to_one MONDO:0003710 ovarian mixed germ cell neoplasm UBERON UBERON:0000992 disease_has_location MONDO:0003710 ovarian mixed germ cell neoplasm UMLS UMLS:C0280135 one_to_one MONDO:0003712 angiokeratoma of mibelli DOID DOID:5948 one_to_one @@ -18799,6 +18878,7 @@ MONDO:0003732 adult central nervous system mature teratoma UMLS UMLS:C1332194 on MONDO:0003733 central nervous system mature teratoma DOID DOID:6017 one_to_one MONDO:0003733 central nervous system mature teratoma MONDO MONDO:0002718,MONDO:0003517 subclass MONDO:0003733 central nervous system mature teratoma NCIT NCIT:C7013 one_to_one +MONDO:0003733 central nervous system mature teratoma ONCOTREE ONCOTREE:BMT one_to_one MONDO:0003733 central nervous system mature teratoma UBERON UBERON:0001017 disease_has_location MONDO:0003733 central nervous system mature teratoma UMLS UMLS:C1332886 one_to_one MONDO:0003734 adult central nervous system immature teratoma DOID DOID:6018 one_to_one @@ -18808,6 +18888,7 @@ MONDO:0003734 adult central nervous system immature teratoma UMLS UMLS:C1332193 MONDO:0003735 central nervous system immature teratoma DOID DOID:6019 one_to_one MONDO:0003735 central nervous system immature teratoma MONDO MONDO:0002718 subclass MONDO:0003735 central nervous system immature teratoma NCIT NCIT:C7014 one_to_one +MONDO:0003735 central nervous system immature teratoma ONCOTREE ONCOTREE:BIMT one_to_one MONDO:0003735 central nervous system immature teratoma UMLS UMLS:C1332883 one_to_one MONDO:0003736 cancerophobia DOID DOID:602 one_to_one MONDO:0003736 cancerophobia EFO EFO:1001879 one_to_one @@ -19112,8 +19193,12 @@ MONDO:0003791 prostatic urethral cancer UBERON UBERON:0001335 disease_has_locati MONDO:0003791 prostatic urethral cancer UMLS UMLS:C1514523 one_to_one MONDO:0003792 ovarian carcinosarcoma DOID DOID:6170 one_to_one MONDO:0003792 ovarian carcinosarcoma EFO EFO:1000412 one_to_one +MONDO:0003792 ovarian carcinosarcoma GARD GARD:0007296 one_to_one +MONDO:0003792 ovarian carcinosarcoma ICD10 ICD10:C56 inexact MONDO:0003792 ovarian carcinosarcoma MONDO MONDO:0002928,MONDO:0003812,MONDO:0005140 subclass MONDO:0003792 ovarian carcinosarcoma NCIT NCIT:C9192 one_to_one +MONDO:0003792 ovarian carcinosarcoma ONCOTREE ONCOTREE:OCS one_to_one +MONDO:0003792 ovarian carcinosarcoma Orphanet Orphanet:213512 one_to_one MONDO:0003792 ovarian carcinosarcoma SCTID SCTID:702368000 one_to_one MONDO:0003792 ovarian carcinosarcoma UBERON UBERON:0000992 disease_has_location MONDO:0003792 ovarian carcinosarcoma UMLS UMLS:C0392998 one_to_one @@ -19249,6 +19334,7 @@ MONDO:0003819 childhood teratoma of the ovary UMLS UMLS:C1332992 one_to_one MONDO:0003820 mature ovarian teratoma DOID DOID:6231 one_to_one MONDO:0003820 mature ovarian teratoma MONDO MONDO:0003517,MONDO:0003821 subclass MONDO:0003820 mature ovarian teratoma NCIT NCIT:C8112 one_to_one +MONDO:0003820 mature ovarian teratoma ONCOTREE ONCOTREE:OMT one_to_one MONDO:0003820 mature ovarian teratoma UBERON UBERON:0000992 disease_has_location MONDO:0003820 mature ovarian teratoma UMLS UMLS:C1334637 one_to_one MONDO:0003821 ovarian biphasic or triphasic teratoma DOID DOID:6232 one_to_one @@ -19457,6 +19543,7 @@ MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma DOID DOID: MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma ICDO ICDO:9823/3 one_to_one MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma MONDO MONDO:0004948 subclass MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma NCIT NCIT:C27911 one_to_one +MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma ONCOTREE ONCOTREE:CLLSLL one_to_one MONDO:0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma UMLS UMLS:C1302547 one_to_one MONDO:0003865 acral lentiginous melanoma (disease) DOID DOID:6367 one_to_one MONDO:0003865 acral lentiginous melanoma (disease) GARD GARD:0009570 one_to_one @@ -19730,18 +19817,23 @@ MONDO:0003923 ethmoid sinus Schneiderian papilloma DOID DOID:6559 one_to_one MONDO:0003923 ethmoid sinus Schneiderian papilloma MONDO MONDO:0006353,MONDO:0021515 subclass MONDO:0003923 ethmoid sinus Schneiderian papilloma NCIT NCIT:C6836 one_to_one MONDO:0003923 ethmoid sinus Schneiderian papilloma UMLS UMLS:C1333476 one_to_one -MONDO:0003924 adrenal cortex adenoma DOID DOID:656 one_to_one +MONDO:0003924 adrenal cortex adenoma DOID DOID:0050891,DOID:656 inexact +MONDO:0003924 adrenal cortex adenoma EFO EFO:0003104 one_to_one MONDO:0003924 adrenal cortex adenoma GARD GARD:0005745 one_to_one +MONDO:0003924 adrenal cortex adenoma HP HP:0008196,HP:0008256 inexact MONDO:0003924 adrenal cortex adenoma ICDO ICDO:8370/0 one_to_one +MONDO:0003924 adrenal cortex adenoma MESH MESH:D018246 one_to_one +MONDO:0003924 adrenal cortex adenoma MONDO MONDO:0003924 excluded_subClassOf MONDO:0003924 adrenal cortex adenoma MONDO MONDO:0004972,MONDO:0021511,MONDO:0036591,MONDO:0036976 subclass MONDO:0003924 adrenal cortex adenoma NCIT NCIT:C36108,NCIT:C41457 has_finding MONDO:0003924 adrenal cortex adenoma NCIT NCIT:C9003 one_to_one +MONDO:0003924 adrenal cortex adenoma ONCOTREE ONCOTREE:ACA one_to_one MONDO:0003924 adrenal cortex adenoma Orphanet Orphanet:463 one_to_one MONDO:0003924 adrenal cortex adenoma SCTID SCTID:302826002 one_to_one MONDO:0003924 adrenal cortex adenoma UBERON UBERON:0001235 disease_has_location MONDO:0003924 adrenal cortex adenoma UMLS UMLS:C0206667 one_to_one MONDO:0003925 ethmoid sinus inverted papilloma DOID DOID:6562 one_to_one -MONDO:0003925 ethmoid sinus inverted papilloma MONDO MONDO:0002537,MONDO:0021515 subclass +MONDO:0003925 ethmoid sinus inverted papilloma MONDO MONDO:0002537,MONDO:0003923 subclass 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 @@ -19856,7 +19948,7 @@ MONDO:0003947 hyper-IgM syndrome GO GO:0023035 disease_disrupts MONDO:0003947 hyper-IgM syndrome HP HP:0002721 disease_has_feature MONDO:0003947 hyper-IgM syndrome ICD9 ICD9:279.05 one_to_one MONDO:0003947 hyper-IgM syndrome MESH MESH:D053306 one_to_one -MONDO:0003947 hyper-IgM syndrome MONDO MONDO:0002468,MONDO:0015138,MONDO:0015549,MONDO:0021195 subclass +MONDO:0003947 hyper-IgM syndrome MONDO MONDO:0002468,MONDO:0015138,MONDO:0015549,MONDO:0044980 subclass MONDO:0003947 hyper-IgM syndrome NCIT NCIT:C3990 one_to_one MONDO:0003947 hyper-IgM syndrome OMIMPS OMIMPS:308230 one_to_one MONDO:0003947 hyper-IgM syndrome SCTID SCTID:82286005 one_to_one @@ -20049,6 +20141,7 @@ MONDO:0003989 polyembryoma of the ovary DOID DOID:6774 one_to_one MONDO:0003989 polyembryoma of the ovary MONDO MONDO:0015863,MONDO:0016096 subclass MONDO:0003989 polyembryoma of the ovary NCIT NCIT:C26682,NCIT:C34333 has_finding MONDO:0003989 polyembryoma of the ovary NCIT NCIT:C39990 one_to_one +MONDO:0003989 polyembryoma of the ovary ONCOTREE ONCOTREE:OPE one_to_one MONDO:0003989 polyembryoma of the ovary UMLS UMLS:C1514199 one_to_one MONDO:0003990 malignant breast myoepithelioma DOID DOID:6776 one_to_one MONDO:0003990 malignant breast myoepithelioma MONDO MONDO:0002483,MONDO:0003158,MONDO:0006256 subclass @@ -20202,6 +20295,7 @@ MONDO:0004024 spinal cord neuroblastoma UBERON UBERON:0002240 disease_has_locati MONDO:0004024 spinal cord neuroblastoma UMLS UMLS:C1336046 one_to_one MONDO:0004026 skin tag DOID DOID:6873 one_to_one MONDO:0004026 skin tag MONDO MONDO:0006603 subclass +MONDO:0004026 skin tag NCIT NCIT:C3374 one_to_one MONDO:0004026 skin tag SCTID SCTID:201091002 one_to_one MONDO:0004026 skin tag UMLS UMLS:C0037293 one_to_one MONDO:0004028 small intestinal fibrosarcoma DOID DOID:6880 one_to_one @@ -20218,10 +20312,12 @@ MONDO:0004030 ureter transitional cell carcinoma UBERON UBERON:0000056 disease_h MONDO:0004030 ureter transitional cell carcinoma UMLS UMLS:C0577692 one_to_one MONDO:0004031 ovary mixed epithelial carcinoma DOID DOID:6898 one_to_one MONDO:0004031 ovary mixed epithelial carcinoma MONDO MONDO:0005140 subclass +MONDO:0004031 ovary mixed epithelial carcinoma ONCOTREE ONCOTREE:MXOV one_to_one MONDO:0004032 ovarian seromucinous carcinoma DOID DOID:6899 one_to_one MONDO:0004032 ovarian seromucinous carcinoma EFO EFO:1000358 one_to_one MONDO:0004032 ovarian seromucinous carcinoma MONDO MONDO:0003811,MONDO:0005853,MONDO:0018364 subclass MONDO:0004032 ovarian seromucinous carcinoma NCIT NCIT:C40090 one_to_one +MONDO:0004032 ovarian seromucinous carcinoma ONCOTREE ONCOTREE:OSMCA one_to_one MONDO:0004032 ovarian seromucinous carcinoma UMLS UMLS:C1518232 one_to_one MONDO:0004033 familial ovarian carcinoma DOID DOID:6901 one_to_one MONDO:0004033 familial ovarian carcinoma MONDO MONDO:0021152 has_modifier @@ -20255,7 +20351,7 @@ MONDO:0004038 dental enamel hypoplasia UMLS UMLS:C0011351 one_to_one MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma DOID DOID:6931 one_to_one MONDO:0004039 papillary extrahepatic bile duct adenocarcinoma MONDO MONDO:0002665 subclass MONDO:0004040 urinary bladder inverted papilloma DOID DOID:6932 one_to_one -MONDO:0004040 urinary bladder inverted papilloma MONDO MONDO:0000384,MONDO:0002537,MONDO:0021109 subclass +MONDO:0004040 urinary bladder inverted papilloma MONDO MONDO:0002537,MONDO:0021109,MONDO:0044906 subclass MONDO:0004040 urinary bladder inverted papilloma NCIT NCIT:C39859 one_to_one MONDO:0004040 urinary bladder inverted papilloma SCTID SCTID:447765004 one_to_one MONDO:0004040 urinary bladder inverted papilloma UBERON UBERON:0001255 disease_has_location @@ -20345,12 +20441,14 @@ MONDO:0004056 bladder papillary urothelial carcinoma NCIT NCIT:C7383 one_to_one MONDO:0004056 bladder papillary urothelial carcinoma UBERON UBERON:0001255 disease_has_location MONDO:0004056 bladder papillary urothelial carcinoma UMLS UMLS:C1518882 one_to_one MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma DOID DOID:6976 one_to_one +MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma EFO EFO:0008512 one_to_one MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma MONDO MONDO:0003890 subclass MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma NCIT NCIT:C27202 one_to_one MONDO:0004057 micropapillary variant infiltrating bladder urothelial carcinoma UMLS UMLS:C1517579 one_to_one MONDO:0004058 pancreatic cholera DOID DOID:6977 one_to_one MONDO:0004058 pancreatic cholera ICD9 ICD9:259.3 one_to_one MONDO:0004058 pancreatic cholera MONDO MONDO:0001933 subclass +MONDO:0004058 pancreatic cholera NCIT NCIT:C3488 one_to_one MONDO:0004058 pancreatic cholera SCTID SCTID:39998009 one_to_one MONDO:0004059 dentin sensitivity DOID DOID:698 one_to_one MONDO:0004059 dentin sensitivity MESH MESH:D003807 one_to_one @@ -20395,7 +20493,7 @@ MONDO:0004069 inborn mitochondrial metabolism disorder DOID DOID:700 one_to_one MONDO:0004069 inborn mitochondrial metabolism disorder GARD GARD:0007048 one_to_one MONDO:0004069 inborn mitochondrial metabolism disorder GO GO:0005739 disease_has_basis_in_dysfunction_of MONDO:0004069 inborn mitochondrial metabolism disorder MESH MESH:D028361 one_to_one -MONDO:0004069 inborn mitochondrial metabolism disorder MONDO MONDO:0015327,MONDO:0019052,MONDO:0019243,MONDO:0021197 subclass +MONDO:0004069 inborn mitochondrial metabolism disorder MONDO MONDO:0015327,MONDO:0019052,MONDO:0019243,MONDO:0044970 subclass MONDO:0004069 inborn mitochondrial metabolism disorder Orphanet Orphanet:68380 one_to_one MONDO:0004071 childhood cerebral astrocytoma DOID DOID:7007 one_to_one MONDO:0004071 childhood cerebral astrocytoma GARD GARD:0009302 one_to_one @@ -20418,7 +20516,7 @@ 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:0024505 subclass +MONDO:0004077 lumbosacral lipoma MONDO MONDO:0000631,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 @@ -20447,6 +20545,7 @@ MONDO:0004082 childhood immature teratoma of ovary MONDO MONDO:0003819,MONDO:000 MONDO:0004082 childhood immature teratoma of ovary NCIT NCIT:C6547 one_to_one MONDO:0004082 childhood immature teratoma of ovary UMLS UMLS:C1332990 one_to_one MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma DOID DOID:7039 one_to_one +MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma EFO EFO:1001841 one_to_one MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma ICDO ICDO:8096/0 one_to_one MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma MONDO MONDO:0002656 subclass MONDO:0004083 Borst-Jadassohn intraepidermal carcinoma NCIT NCIT:C4110 one_to_one @@ -20585,7 +20684,7 @@ MONDO:0004110 refractory hairy cell leukemia NCIT NCIT:C8030 one_to_one MONDO:0004110 refractory hairy cell leukemia UMLS UMLS:C0279780 one_to_one MONDO:0004111 refractory hematologic cancer DOID DOID:712 one_to_one MONDO:0004111 refractory hematologic cancer MONDO MONDO:0024646 has_modifier -MONDO:0004111 refractory hematologic cancer MONDO MONDO:0002334 subclass +MONDO:0004111 refractory hematologic cancer MONDO MONDO:0002334,MONDO:0044881 subclass MONDO:0004111 refractory hematologic cancer NCIT NCIT:C27357 one_to_one MONDO:0004111 refractory hematologic cancer UMLS UMLS:C1335724 one_to_one MONDO:0004112 radiation cystitis COHD COHD:201353 one_to_one @@ -20602,6 +20701,7 @@ MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma GARD GARD:0011 MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma ICD10 ICD10:C67.0,ICD10:C67.1,ICD10:C67.2,ICD10:C67.3,ICD10:C67.4,ICD10:C67.5,ICD10:C67.6,ICD10:C67.7,ICD10:C67.8,ICD10:C67.9 inexact MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma MONDO MONDO:0000402,MONDO:0004986,MONDO:0020032 subclass MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma NCIT NCIT:C9461 one_to_one +MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma ONCOTREE ONCOTREE:SCBC one_to_one MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma Orphanet Orphanet:284400 one_to_one MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma UBERON UBERON:0001255 disease_has_location MONDO:0004114 urinary bladder small cell neuroendocrine carcinoma UMLS UMLS:C1332564,UMLS:CN202866 inexact @@ -20906,6 +21006,7 @@ MONDO:0004181 breast adenomyoepithelial adenosis NCIT NCIT:C40391 one_to_one MONDO:0004181 breast adenomyoepithelial adenosis UMLS UMLS:C1511283 one_to_one MONDO:0004182 stage IVb bladder cancer DOID DOID:7315 one_to_one MONDO:0004182 stage IVb bladder cancer MONDO MONDO:0004986 subclass +MONDO:0004182 stage IVb bladder cancer NCIT NCIT:C9368 one_to_one MONDO:0004182 stage IVb bladder cancer UMLS UMLS:C1336362 one_to_one MONDO:0004183 axonal neuropathy DOID DOID:7319 one_to_one MONDO:0004183 axonal neuropathy GO GO:0030424 disease_has_location @@ -20965,6 +21066,7 @@ MONDO:0004192 urethra cancer ICD10 ICD10:C68.0 one_to_one MONDO:0004192 urethra cancer ICD9 ICD9:189.3 one_to_one MONDO:0004192 urethra cancer MONDO MONDO:0004992,MONDO:0006295,MONDO:0021239 subclass MONDO:0004192 urethra cancer NCIT NCIT:C7507 one_to_one +MONDO:0004192 urethra cancer ONCOTREE ONCOTREE:UCA one_to_one MONDO:0004192 urethra cancer SCTID SCTID:363459007 one_to_one MONDO:0004192 urethra cancer UBERON UBERON:0000057 disease_has_location MONDO:0004193 pediatric ovarian dysgerminoma DOID DOID:7340 one_to_one @@ -21133,7 +21235,7 @@ MONDO:0004225 monoclonal gammopathy of uncertain significance GARD GARD:0007034 MONDO:0004225 monoclonal gammopathy of uncertain significance ICD9 ICD9:238.6 inexact MONDO:0004225 monoclonal gammopathy of uncertain significance ICDO ICDO:9765/1 one_to_one MONDO:0004225 monoclonal gammopathy of uncertain significance MESH MESH:D008998 one_to_one -MONDO:0004225 monoclonal gammopathy of uncertain significance MONDO MONDO:0004960 subclass +MONDO:0004225 monoclonal gammopathy of uncertain significance MONDO MONDO:0004959,MONDO:0004960 subclass MONDO:0004225 monoclonal gammopathy of uncertain significance NCIT NCIT:C3996 one_to_one MONDO:0004225 monoclonal gammopathy of uncertain significance ONCOTREE ONCOTREE:MGUS one_to_one MONDO:0004225 monoclonal gammopathy of uncertain significance SCTID SCTID:277577000,SCTID:58648008 inexact @@ -21928,6 +22030,7 @@ MONDO:0004380 dendritic cell sarcoma CL CL:0000451 disease_has_location MONDO:0004380 dendritic cell sarcoma DOID DOID:7849 one_to_one MONDO:0004380 dendritic cell sarcoma MONDO MONDO:0000621,MONDO:0004805,MONDO:0005089,MONDO:0006247,MONDO:0020008 subclass MONDO:0004380 dendritic cell sarcoma NCIT NCIT:C27260 one_to_one +MONDO:0004380 dendritic cell sarcoma ONCOTREE ONCOTREE:DCS one_to_one MONDO:0004380 dendritic cell sarcoma SCTID SCTID:446643000 one_to_one MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia DOID DOID:7851 one_to_one MONDO:0004381 pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia ICDO ICDO:8453/0 one_to_one @@ -22140,6 +22243,7 @@ MONDO:0004424 familial glomangioma NCIT NCIT:C54062 has_finding MONDO:0004424 familial glomangioma NCIT NCIT:C5350 one_to_one MONDO:0004424 familial glomangioma UMLS UMLS:C1333987 one_to_one MONDO:0004425 hyperthyroidism DOID DOID:7998 one_to_one +MONDO:0004425 hyperthyroidism EFO EFO:0009189 one_to_one MONDO:0004425 hyperthyroidism ICD10 ICD10:E05.9 inexact MONDO:0004425 hyperthyroidism ICD9 ICD9:242.90 inexact MONDO:0004425 hyperthyroidism MESH MESH:D006980 one_to_one @@ -22177,9 +22281,8 @@ MONDO:0004431 hemarthrosis EFO EFO:1001344 one_to_one MONDO:0004431 hemarthrosis ICD10 ICD10:M25.0 one_to_one MONDO:0004431 hemarthrosis ICD9 ICD9:719.1,ICD9:719.10,ICD9:719.18 inexact MONDO:0004431 hemarthrosis MESH MESH:D006395 one_to_one -MONDO:0004431 hemarthrosis MONDO MONDO:0006816,MONDO:0024505 subclass +MONDO:0004431 hemarthrosis MONDO MONDO:0006816,MONDO:0044967 subclass MONDO:0004431 hemarthrosis SCTID SCTID:81808003 one_to_one -MONDO:0004431 hemarthrosis UBERON UBERON:0002101 disease_has_location MONDO:0004431 hemarthrosis UMLS UMLS:C0158159 one_to_one MONDO:0004432 mature pericardial teratoma DOID DOID:8012 one_to_one MONDO:0004432 mature pericardial teratoma MONDO MONDO:0003517,MONDO:0020015,MONDO:0021381 subclass @@ -22338,7 +22441,7 @@ MONDO:0004465 periampullary adenocarcinoma UBERON UBERON:0012273 disease_has_loc MONDO:0004465 periampullary adenocarcinoma UMLS UMLS:C1335377 one_to_one MONDO:0004466 neuronitis CL CL:0000540 disease_has_inflammation_site MONDO:0004466 neuronitis DOID DOID:8117 one_to_one -MONDO:0004466 neuronitis MONDO MONDO:0000001,MONDO:0005071,MONDO:0021166 subclass +MONDO:0004466 neuronitis MONDO MONDO:0000001,MONDO:0005071,MONDO:0021166,MONDO:0044979 subclass MONDO:0004466 neuronitis NCIT NCIT:C34847 one_to_one MONDO:0004466 neuronitis UMLS UMLS:C0027881 one_to_one MONDO:0004467 mature gastric teratoma DOID DOID:8118 one_to_one @@ -22411,7 +22514,7 @@ MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associa MONDO:0004482 fibroosseous pseudotumor of the digits DOID DOID:8153 one_to_one MONDO:0004482 fibroosseous pseudotumor of the digits ICD9 ICD9:215.9 inexact MONDO:0004482 fibroosseous pseudotumor of the digits MONDO MONDO:0000631 excluded_subClassOf -MONDO:0004482 fibroosseous pseudotumor of the digits MONDO MONDO:0024505 subclass +MONDO:0004482 fibroosseous pseudotumor of the digits MONDO MONDO:0044967 subclass MONDO:0004482 fibroosseous pseudotumor of the digits NCIT NCIT:C6573 one_to_one MONDO:0004482 fibroosseous pseudotumor of the digits SCTID SCTID:403991009 one_to_one MONDO:0004482 fibroosseous pseudotumor of the digits UBERON UBERON:0002544 disease_has_location @@ -22454,6 +22557,7 @@ MONDO:0004490 gestational uterine corpus choriocarcinoma UBERON UBERON:0009853 d MONDO:0004491 uterine corpus choriocarcinoma DOID DOID:8188 one_to_one MONDO:0004491 uterine corpus choriocarcinoma MONDO MONDO:0005207,MONDO:0016273 subclass MONDO:0004491 uterine corpus choriocarcinoma NCIT NCIT:C27246 one_to_one +MONDO:0004491 uterine corpus choriocarcinoma ONCOTREE ONCOTREE:UCCA one_to_one MONDO:0004491 uterine corpus choriocarcinoma UBERON UBERON:0009853 disease_has_location MONDO:0004491 uterine corpus choriocarcinoma UMLS UMLS:C1336904 one_to_one MONDO:0004492 mediastinitis COHD COHD:439045 one_to_one @@ -22623,7 +22727,7 @@ MONDO:0004522 peritonitis COHD COHD:196152 one_to_one MONDO:0004522 peritonitis DOID DOID:8283 one_to_one MONDO:0004522 peritonitis EFO EFO:0008588 one_to_one MONDO:0004522 peritonitis ICD9 ICD9:567.8,ICD9:567.82,ICD9:567.89 inexact -MONDO:0004522 peritonitis MONDO MONDO:0000001,MONDO:0004335,MONDO:0024505,MONDO:0043786 subclass +MONDO:0004522 peritonitis MONDO MONDO:0000001,MONDO:0004335,MONDO:0043786,MONDO:0044965 subclass MONDO:0004522 peritonitis NCIT NCIT:C26849 one_to_one MONDO:0004522 peritonitis SCTID SCTID:86422009 one_to_one MONDO:0004522 peritonitis UBERON UBERON:0002358 disease_has_inflammation_site @@ -22658,7 +22762,7 @@ MONDO:0004527 congenital granular cell tumor DOID DOID:8303 one_to_one MONDO:0004527 congenital granular cell tumor MONDO MONDO:0002616 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:0024505,MONDO:0040675 subclass +MONDO:0004528 lymph node palisaded myofibroblastoma MONDO MONDO:0024339,MONDO:0040675,MONDO:0044965 subclass MONDO:0004528 lymph node palisaded myofibroblastoma NCIT NCIT:C6584 one_to_one MONDO:0004528 lymph node palisaded myofibroblastoma UBERON UBERON:0001542 disease_has_location MONDO:0004528 lymph node palisaded myofibroblastoma UMLS UMLS:C1335295 one_to_one @@ -23094,7 +23198,7 @@ MONDO:0004601 ulcer of lower limbs ICD9 ICD9:707.13 one_to_one MONDO:0004601 ulcer of lower limbs MONDO MONDO:0004605 subclass MONDO:0004601 ulcer of lower limbs SCTID SCTID:419193008 one_to_one MONDO:0004603 collagenopathy GO GO:0005581 disease_has_basis_in_dysfunction_of -MONDO:0004603 collagenopathy MONDO MONDO:0000001,MONDO:0003900,MONDO:0021197 subclass +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 @@ -23705,7 +23809,7 @@ MONDO:0004684 plantar fibromatosis DOID DOID:8936 one_to_one MONDO:0004684 plantar fibromatosis EFO EFO:1000481 one_to_one MONDO:0004684 plantar fibromatosis ICD10 ICD10:M72.2 inexact MONDO:0004684 plantar fibromatosis ICD9 ICD9:728.71 one_to_one -MONDO:0004684 plantar fibromatosis MONDO MONDO:0016037,MONDO:0024505 subclass +MONDO:0004684 plantar fibromatosis MONDO MONDO:0016037,MONDO:0044967 subclass MONDO:0004684 plantar fibromatosis NCIT NCIT:C4680 one_to_one MONDO:0004684 plantar fibromatosis SCTID SCTID:13370002 one_to_one MONDO:0004684 plantar fibromatosis UBERON UBERON:0008338 disease_has_location @@ -23965,7 +24069,7 @@ MONDO:0004725 rectum carcinoma in situ COHD COHD:75210 one_to_one MONDO:0004725 rectum carcinoma in situ DOID DOID:9174 one_to_one MONDO:0004725 rectum carcinoma in situ ICD10 ICD10:D01.2 one_to_one MONDO:0004725 rectum carcinoma in situ ICD9 ICD9:230.4 one_to_one -MONDO:0004725 rectum carcinoma in situ MONDO MONDO:0004647,MONDO:0004698,MONDO:0006519,MONDO:0024331,MONDO:0024476 subclass +MONDO:0004725 rectum carcinoma in situ MONDO MONDO:0004647,MONDO:0004698,MONDO:0044937 subclass MONDO:0004725 rectum carcinoma in situ NCIT NCIT:C4853 one_to_one MONDO:0004725 rectum carcinoma in situ SCTID SCTID:308879003 one_to_one MONDO:0004725 rectum carcinoma in situ UBERON UBERON:0001052 disease_has_location @@ -24433,7 +24537,7 @@ MONDO:0004796 infectious meningitis SCTID SCTID:312216007 one_to_one MONDO:0004796 infectious meningitis UBERON UBERON:0002360 disease_has_inflammation_site MONDO:0004797 mononeuritis of lower limb DOID DOID:9473 one_to_one MONDO:0004797 mononeuritis of lower limb ICD9 ICD9:355,ICD9:355.8 inexact -MONDO:0004797 mononeuritis of lower limb MONDO MONDO:0002121,MONDO:0024505 subclass +MONDO:0004797 mononeuritis of lower limb MONDO MONDO:0002121,MONDO:0044967 subclass MONDO:0004797 mononeuritis of lower limb UBERON UBERON:0002103 disease_has_location MONDO:0004799 ulcerative blepharitis COHD COHD:441558 one_to_one MONDO:0004799 ulcerative blepharitis DOID DOID:9483 one_to_one @@ -24480,7 +24584,7 @@ MONDO:0004805 leukocyte disease DOID DOID:9500 one_to_one MONDO:0004805 leukocyte disease ICD10 ICD10:D72.9 one_to_one MONDO:0004805 leukocyte disease ICD9 ICD9:288,ICD9:288.9 inexact MONDO:0004805 leukocyte disease MESH MESH:D007960 one_to_one -MONDO:0004805 leukocyte disease MONDO MONDO:0000001,MONDO:0005046,MONDO:0005570 subclass +MONDO:0004805 leukocyte disease MONDO MONDO:0000001,MONDO:0005046,MONDO:0005570,MONDO:0044979 subclass MONDO:0004805 leukocyte disease SCTID SCTID:54097007 one_to_one MONDO:0004805 leukocyte disease UMLS UMLS:C0023510 one_to_one MONDO:0004806 chronic eosinophilic pneumonia DOID DOID:9502 one_to_one @@ -24882,7 +24986,7 @@ MONDO:0004869 pelvic varices COHD COHD:197311 one_to_one MONDO:0004869 pelvic varices DOID DOID:9742 one_to_one MONDO:0004869 pelvic varices ICD10 ICD10:I86.2 one_to_one MONDO:0004869 pelvic varices ICD9 ICD9:456.5 one_to_one -MONDO:0004869 pelvic varices MONDO MONDO:0008638,MONDO:0024505 subclass +MONDO:0004869 pelvic varices MONDO MONDO:0008638,MONDO:0044965 subclass MONDO:0004869 pelvic varices SCTID SCTID:17406005 one_to_one MONDO:0004869 pelvic varices UBERON UBERON:0036268 disease_has_basis_in_dysfunction_of MONDO:0004869 pelvic varices UBERON UBERON:0002355 disease_has_location @@ -25376,6 +25480,7 @@ MONDO:0004949 neoplasm of mature B-cells EFO EFO:0000096 one_to_one MONDO:0004949 neoplasm of mature B-cells ICD9 ICD9:202.0 one_to_one MONDO:0004949 neoplasm of mature B-cells MONDO MONDO:0004095,MONDO:0005070 subclass MONDO:0004949 neoplasm of mature B-cells NCIT NCIT:C27910 one_to_one +MONDO:0004949 neoplasm of mature B-cells ONCOTREE ONCOTREE:MBN one_to_one MONDO:0004949 neoplasm of mature B-cells SCTID SCTID:269476000 one_to_one MONDO:0004949 neoplasm of mature B-cells UMLS UMLS:C1334633 one_to_one MONDO:0004950 gastric carcinoma DOID DOID:5517 one_to_one @@ -25389,6 +25494,7 @@ MONDO:0004951 susceptibility to HIV infection MONDO MONDO:0012268 disease_has_fe MONDO:0004951 susceptibility to HIV infection MONDO MONDO:0015979 subclass MONDO:0004951 susceptibility to HIV infection OMIM OMIM:609423 one_to_one MONDO:0004951 susceptibility to HIV infection UMLS UMLS:CN282826 one_to_one +MONDO:0004951 susceptibility to HIV infection http http://identifiers.org/hgnc/10610,http://identifiers.org/hgnc/10618,http://identifiers.org/hgnc/10627,http://identifiers.org/hgnc/10628,http://identifiers.org/hgnc/10672,http://identifiers.org/hgnc/11849,http://identifiers.org/hgnc/1641,http://identifiers.org/hgnc/2558,http://identifiers.org/hgnc/4933,http://identifiers.org/hgnc/5438,http://identifiers.org/hgnc/5962,http://identifiers.org/hgnc/6015,http://identifiers.org/hgnc/6026,http://identifiers.org/hgnc/6338 disease_has_basis_in_dysfunction_of MONDO:0004952 Hodgkins lymphoma DOID DOID:8567 one_to_one MONDO:0004952 Hodgkins lymphoma EFO EFO:0000183 one_to_one MONDO:0004952 Hodgkins lymphoma GARD GARD:0002714 one_to_one @@ -25398,6 +25504,7 @@ MONDO:0004952 Hodgkins lymphoma ICDO ICDO:9650/3 one_to_one MONDO:0004952 Hodgkins lymphoma MESH MESH:D006689 one_to_one MONDO:0004952 Hodgkins lymphoma MONDO MONDO:0005062,MONDO:0017343 subclass MONDO:0004952 Hodgkins lymphoma NCIT NCIT:C9357 one_to_one +MONDO:0004952 Hodgkins lymphoma ONCOTREE ONCOTREE:HL one_to_one MONDO:0004952 Hodgkins lymphoma Orphanet Orphanet:98293 one_to_one MONDO:0004953 invasive ductal breast carcinoma DOID DOID:3008 one_to_one MONDO:0004953 invasive ductal breast carcinoma EFO EFO:0000186 one_to_one @@ -25433,7 +25540,7 @@ MONDO:0004957 mucinous adenocarcinoma UMLS UMLS:C0007130,UMLS:C0334368 inexact MONDO:0004958 oral cavity squamous cell carcinoma DOID DOID:0050866 one_to_one MONDO:0004958 oral cavity squamous cell carcinoma EFO EFO:0000199 one_to_one MONDO:0004958 oral cavity squamous cell carcinoma GARD GARD:0007263 one_to_one -MONDO:0004958 oral cavity squamous cell carcinoma MONDO MONDO:0005096,MONDO:0005515,MONDO:0006181,MONDO:0010150,MONDO:0019997,MONDO:0020033 subclass +MONDO:0004958 oral cavity squamous cell carcinoma MONDO MONDO:0005096,MONDO:0019997,MONDO:0020033,MONDO:0044710,MONDO:0044925 subclass MONDO:0004958 oral cavity squamous cell carcinoma NCIT NCIT:C4833 one_to_one MONDO:0004958 oral cavity squamous cell carcinoma ONCOTREE ONCOTREE:OCSC one_to_one MONDO:0004958 oral cavity squamous cell carcinoma Orphanet Orphanet:502363 one_to_one @@ -25455,7 +25562,8 @@ MONDO:0004960 monoclonal gammopathy COHD COHD:4002359 one_to_one MONDO:0004960 monoclonal gammopathy EFO EFO:0000203 one_to_one MONDO:0004960 monoclonal gammopathy ICD10 ICD10:D47.2 one_to_one MONDO:0004960 monoclonal gammopathy MESH MESH:D010265 one_to_one -MONDO:0004960 monoclonal gammopathy MONDO MONDO:0004959 subclass +MONDO:0004960 monoclonal gammopathy MONDO MONDO:0004959 excluded_subClassOf +MONDO:0004960 monoclonal gammopathy MONDO MONDO:0005570 subclass MONDO:0004960 monoclonal gammopathy NCIT NCIT:C35548 one_to_one MONDO:0004960 monoclonal gammopathy SCTID SCTID:109983007 one_to_one MONDO:0004961 stage I endometrioid carcinoma EFO EFO:0000205 one_to_one @@ -25469,6 +25577,7 @@ MONDO:0004963 T-cell acute lymphoblastic leukemia EFO EFO:0000209 one_to_one MONDO:0004963 T-cell acute lymphoblastic leukemia ICDO ICDO:9837/3 inexact MONDO:0004963 T-cell acute lymphoblastic leukemia MONDO MONDO:0004967 subclass MONDO:0004963 T-cell acute lymphoblastic leukemia NCIT NCIT:C3183 one_to_one +MONDO:0004963 T-cell acute lymphoblastic leukemia http http://identifiers.org/hgnc/5056 one_to_one MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified EFO EFO:0000211 one_to_one MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified MONDO MONDO:0005062,MONDO:0005169 subclass MONDO:0004964 peripheral T-cell lymphoma, not otherwise specified NCIT NCIT:C4340 one_to_one @@ -25479,7 +25588,7 @@ MONDO:0004965 acinar cell carcinoma EFO EFO:0000216 one_to_one MONDO:0004965 acinar cell carcinoma GARD GARD:0008568 one_to_one MONDO:0004965 acinar cell carcinoma ICDO ICDO:8550/3 one_to_one MONDO:0004965 acinar cell carcinoma MESH MESH:D018267 one_to_one -MONDO:0004965 acinar cell carcinoma MONDO MONDO:0004970,MONDO:0004993,MONDO:0021199 subclass +MONDO:0004965 acinar cell carcinoma MONDO MONDO:0004970,MONDO:0004993 subclass MONDO:0004965 acinar cell carcinoma NCIT NCIT:C3768 one_to_one MONDO:0004965 acinar cell carcinoma ONCOTREE ONCOTREE:ACCC one_to_one MONDO:0004965 acinar cell carcinoma UMLS UMLS:C0206685 one_to_one @@ -25530,12 +25639,13 @@ MONDO:0004971 adenoid cystic carcinoma MESH MESH:D003528 one_to_one MONDO:0004971 adenoid cystic carcinoma MONDO MONDO:0004970 subclass MONDO:0004971 adenoid cystic carcinoma NCIT NCIT:C3303,NCIT:C35920,NCIT:C35925,NCIT:C36182,NCIT:C48260 has_finding MONDO:0004971 adenoid cystic carcinoma NCIT NCIT:C2970 one_to_one +MONDO:0004971 adenoid cystic carcinoma ONCOTREE ONCOTREE:ACYC one_to_one MONDO:0004971 adenoid cystic carcinoma UMLS UMLS:C0010606 one_to_one MONDO:0004972 adenoma DOID DOID:657 one_to_one MONDO:0004972 adenoma EFO EFO:0000232 one_to_one MONDO:0004972 adenoma ICDO ICDO:8140/0 one_to_one MONDO:0004972 adenoma MESH MESH:D000236 one_to_one -MONDO:0004972 adenoma MONDO MONDO:0005626,MONDO:0021199 subclass +MONDO:0004972 adenoma MONDO MONDO:0005626 subclass MONDO:0004972 adenoma NCIT NCIT:C2855 one_to_one MONDO:0004972 adenoma SCTID SCTID:443416007 one_to_one MONDO:0004972 adenoma UBERON UBERON:0002530 disease_has_location @@ -25690,14 +25800,14 @@ MONDO:0004986 urinary bladder carcinoma NCIT NCIT:C4912 one_to_one MONDO:0004986 urinary bladder carcinoma SCTID SCTID:255108000 one_to_one MONDO:0004986 urinary bladder carcinoma UBERON UBERON:0001255 disease_has_location MONDO:0004986 urinary bladder carcinoma UMLS UMLS:C0699885 one_to_one -MONDO:0004987 bladder tumor COHD COHD:200680 one_to_one -MONDO:0004987 bladder tumor EFO EFO:0000294 one_to_one -MONDO:0004987 bladder tumor ICD9 ICD9:239.4 one_to_one -MONDO:0004987 bladder tumor MONDO MONDO:0005070,MONDO:0006026,MONDO:0021066 subclass -MONDO:0004987 bladder tumor NCIT NCIT:C2901 one_to_one -MONDO:0004987 bladder tumor SCTID SCTID:126885006 one_to_one -MONDO:0004987 bladder tumor UBERON UBERON:0001255 disease_has_location -MONDO:0004987 bladder tumor UMLS UMLS:C0005695 one_to_one +MONDO:0004987 urinary bladder neoplasm COHD COHD:200680 one_to_one +MONDO:0004987 urinary bladder neoplasm EFO EFO:0000294 one_to_one +MONDO:0004987 urinary bladder neoplasm ICD9 ICD9:239.4 one_to_one +MONDO:0004987 urinary bladder neoplasm MONDO MONDO:0005070,MONDO:0006026,MONDO:0021066 subclass +MONDO:0004987 urinary bladder neoplasm NCIT NCIT:C2901 one_to_one +MONDO:0004987 urinary bladder neoplasm SCTID SCTID:126885006 one_to_one +MONDO:0004987 urinary bladder neoplasm UBERON UBERON:0001255 disease_has_location +MONDO:0004987 urinary bladder neoplasm UMLS UMLS:C0005695 one_to_one MONDO:0004988 breast adenocarcinoma DOID DOID:3458 one_to_one MONDO:0004988 breast adenocarcinoma EFO EFO:0000304 one_to_one MONDO:0004988 breast adenocarcinoma MONDO MONDO:0000653,MONDO:0004970,MONDO:0004989 subclass @@ -25828,6 +25938,7 @@ MONDO:0005005 clear cell renal carcinoma ICD9 ICD9:189.0 inexact MONDO:0005005 clear cell renal carcinoma MONDO MONDO:0005004,MONDO:0005549,MONDO:0007763 subclass MONDO:0005005 clear cell renal carcinoma NCIT NCIT:C36184,NCIT:C3672,NCIT:C39786,NCIT:C41454,NCIT:C61143 has_finding MONDO:0005005 clear cell renal carcinoma NCIT NCIT:C4033 one_to_one +MONDO:0005005 clear cell renal carcinoma ONCOTREE ONCOTREE:CCRCC one_to_one MONDO:0005005 clear cell renal carcinoma SCTID SCTID:254915003 one_to_one MONDO:0005005 clear cell renal carcinoma UBERON UBERON:0002113 disease_has_location MONDO:0005006 clear cell sarcoma of kidney DOID DOID:4880 one_to_one @@ -25852,9 +25963,11 @@ MONDO:0005008 colorectal adenocarcinoma EFO EFO:0000365 one_to_one MONDO:0005008 colorectal adenocarcinoma MONDO MONDO:0004970,MONDO:0024331 subclass MONDO:0005008 colorectal adenocarcinoma NCIT NCIT:C54581 has_finding MONDO:0005008 colorectal adenocarcinoma NCIT NCIT:C5105 one_to_one +MONDO:0005008 colorectal adenocarcinoma ONCOTREE ONCOTREE:COADREAD one_to_one MONDO:0005008 colorectal adenocarcinoma SCTID SCTID:408645001 one_to_one MONDO:0005008 colorectal adenocarcinoma UBERON UBERON:0012652 disease_has_location MONDO:0005008 colorectal adenocarcinoma UMLS UMLS:C1319315 one_to_one +MONDO:0005008 colorectal adenocarcinoma http http://identifiers.org/hgnc/11283,http://identifiers.org/hgnc/1149,http://identifiers.org/hgnc/11998,http://identifiers.org/hgnc/2514,http://identifiers.org/hgnc/2701,http://identifiers.org/hgnc/27310,http://identifiers.org/hgnc/2897,http://identifiers.org/hgnc/3373,http://identifiers.org/hgnc/3690,http://identifiers.org/hgnc/391,http://identifiers.org/hgnc/583,http://identifiers.org/hgnc/7989,http://identifiers.org/hgnc/8975,http://identifiers.org/hgnc/904 disease_has_basis_in_dysfunction_of MONDO:0005009 congestive heart failure COHD COHD:319835 one_to_one MONDO:0005009 congestive heart failure DOID DOID:6000 one_to_one MONDO:0005009 congestive heart failure EFO EFO:0000373 one_to_one @@ -25862,7 +25975,7 @@ MONDO:0005009 congestive heart failure GO GO:0008015 disease_has_basis_in_disrup MONDO:0005009 congestive heart failure HP HP:0001635 disease_has_major_feature MONDO:0005009 congestive heart failure ICD10 ICD10:I50,ICD10:I50.0,ICD10:I50.9 inexact MONDO:0005009 congestive heart failure ICD9 ICD9:404.01,ICD9:404.11,ICD9:404.13,ICD9:428,ICD9:428.0,ICD9:428.9 inexact -MONDO:0005009 congestive heart failure MONDO MONDO:0005252,MONDO:0021195 subclass +MONDO:0005009 congestive heart failure MONDO MONDO:0005252 subclass MONDO:0005009 congestive heart failure NCIT NCIT:C3080 one_to_one MONDO:0005009 congestive heart failure SCTID SCTID:42343007 one_to_one MONDO:0005009 congestive heart failure UMLS UMLS:C0018802 one_to_one @@ -25897,6 +26010,7 @@ MONDO:0005012 cutaneous melanoma (disease) ICD10 ICD10:C43,ICD10:C43.0,ICD10:C43 MONDO:0005012 cutaneous melanoma (disease) ICD9 ICD9:172,ICD9:172.0,ICD9:172.2,ICD9:172.3,ICD9:172.4,ICD9:172.5,ICD9:172.8,ICD9:172.9 inexact MONDO:0005012 cutaneous melanoma (disease) MONDO MONDO:0002898,MONDO:0005105,MONDO:0019519,MONDO:0021069,MONDO:0021583 subclass MONDO:0005012 cutaneous melanoma (disease) NCIT NCIT:C3510 one_to_one +MONDO:0005012 cutaneous melanoma (disease) ONCOTREE ONCOTREE:SKCM one_to_one MONDO:0005012 cutaneous melanoma (disease) SCTID SCTID:93641007 one_to_one MONDO:0005012 cutaneous melanoma (disease) UBERON UBERON:0000014 disease_has_location MONDO:0005012 cutaneous melanoma (disease) UMLS UMLS:C0151779,UMLS:C0153535,UMLS:C0153536 inexact @@ -26001,6 +26115,7 @@ MONDO:0005028 esophageal adenocarcinoma EFO EFO:0000478 one_to_one MONDO:0005028 esophageal adenocarcinoma ICD10 ICD10:C15.2,ICD10:C15.5 inexact MONDO:0005028 esophageal adenocarcinoma MONDO MONDO:0004970,MONDO:0019086 subclass MONDO:0005028 esophageal adenocarcinoma NCIT NCIT:C4025 one_to_one +MONDO:0005028 esophageal adenocarcinoma ONCOTREE ONCOTREE:ESCA one_to_one MONDO:0005028 esophageal adenocarcinoma Orphanet Orphanet:99976 one_to_one MONDO:0005028 esophageal adenocarcinoma SCTID SCTID:276803003 one_to_one MONDO:0005028 esophageal adenocarcinoma UBERON UBERON:0001043 disease_has_location @@ -26065,6 +26180,7 @@ MONDO:0005034 thyroid gland follicular carcinoma ICDO ICDO:8330/3,ICDO:8331/3 in MONDO:0005034 thyroid gland follicular carcinoma MESH MESH:D018263 one_to_one MONDO:0005034 thyroid gland follicular carcinoma MONDO MONDO:0004993,MONDO:0015447,MONDO:0024622 subclass MONDO:0005034 thyroid gland follicular carcinoma NCIT NCIT:C8054 one_to_one +MONDO:0005034 thyroid gland follicular carcinoma ONCOTREE ONCOTREE:THFO one_to_one MONDO:0005034 thyroid gland follicular carcinoma SCTID SCTID:255028004 one_to_one MONDO:0005034 thyroid gland follicular carcinoma UBERON UBERON:0005305 disease_has_location MONDO:0005035 ganglioneuroblastoma (disease) DOID DOID:4163 one_to_one @@ -26209,7 +26325,7 @@ MONDO:0005053 ischemic disease DOID DOID:326 one_to_one MONDO:0005053 ischemic disease EFO EFO:0000556 one_to_one MONDO:0005053 ischemic disease GO GO:0008015 disease_disrupts MONDO:0005053 ischemic disease MESH MESH:D007511 one_to_one -MONDO:0005053 ischemic disease MONDO MONDO:0005385,MONDO:0021195 subclass +MONDO:0005053 ischemic disease MONDO MONDO:0005385 subclass MONDO:0005053 ischemic disease NCIT NCIT:C34738 one_to_one MONDO:0005053 ischemic disease SCTID SCTID:52674009 one_to_one MONDO:0005055 Kaposi's sarcoma (disease) COHD COHD:434584 one_to_one @@ -26241,6 +26357,7 @@ MONDO:0005057 large cell neuroendocrine carcinoma ICDO ICDO:8013/3 one_to_one MONDO:0005057 large cell neuroendocrine carcinoma MONDO MONDO:0002120,MONDO:0005232 subclass MONDO:0005057 large cell neuroendocrine carcinoma NCIT NCIT:C35960,NCIT:C36104,NCIT:C36184,NCIT:C60707 has_finding MONDO:0005057 large cell neuroendocrine carcinoma NCIT NCIT:C6875 one_to_one +MONDO:0005057 large cell neuroendocrine carcinoma ONCOTREE ONCOTREE:LUNE one_to_one MONDO:0005057 large cell neuroendocrine carcinoma UMLS UMLS:C1265996 one_to_one MONDO:0005058 leiomyosarcoma DOID DOID:1967 one_to_one MONDO:0005058 leiomyosarcoma EFO EFO:0000564 one_to_one @@ -26264,7 +26381,8 @@ MONDO:0005059 leukemia (disease) ICD10 ICD10:C95,ICD10:C95.9,ICD10:C95.90 inexac MONDO:0005059 leukemia (disease) ICD9 ICD9:207,ICD9:207.8,ICD9:207.80,ICD9:208,ICD9:208.8,ICD9:208.80,ICD9:208.9,ICD9:208.90 inexact MONDO:0005059 leukemia (disease) ICDO ICDO:9800/3 one_to_one MONDO:0005059 leukemia (disease) MESH MESH:D007938 one_to_one -MONDO:0005059 leukemia (disease) MONDO MONDO:0005157,MONDO:0005374 subclass +MONDO:0005059 leukemia (disease) MONDO MONDO:0005157 excluded_subClassOf +MONDO:0005059 leukemia (disease) MONDO MONDO:0005374,MONDO:0044881 subclass MONDO:0005059 leukemia (disease) NCIT NCIT:C3161 one_to_one MONDO:0005059 leukemia (disease) SCTID SCTID:93143009 one_to_one MONDO:0005059 leukemia (disease) UMLS UMLS:C0023418 one_to_one @@ -26279,6 +26397,7 @@ MONDO:0005060 liposarcoma MONDO MONDO:0002813,MONDO:0005089,MONDO:0018078 subcla MONDO:0005060 liposarcoma MedDRA MedDRA:10024627 one_to_one MONDO:0005060 liposarcoma NCIT NCIT:C48898 has_finding MONDO:0005060 liposarcoma NCIT NCIT:C3194 one_to_one +MONDO:0005060 liposarcoma ONCOTREE ONCOTREE:LIPO one_to_one MONDO:0005060 liposarcoma Orphanet Orphanet:69078 one_to_one MONDO:0005060 liposarcoma SCTID SCTID:254829001 one_to_one MONDO:0005060 liposarcoma UBERON UBERON:0001013 disease_arises_from_structure @@ -26289,6 +26408,7 @@ MONDO:0005061 lung adenocarcinoma GARD GARD:0005742 one_to_one MONDO:0005061 lung adenocarcinoma MESH MESH:C538231 one_to_one MONDO:0005061 lung adenocarcinoma MONDO MONDO:0004970,MONDO:0005233 subclass MONDO:0005061 lung adenocarcinoma NCIT NCIT:C3512 one_to_one +MONDO:0005061 lung adenocarcinoma ONCOTREE ONCOTREE:LUAD one_to_one MONDO:0005061 lung adenocarcinoma SCTID SCTID:254626006 one_to_one MONDO:0005061 lung adenocarcinoma UBERON UBERON:0002048 disease_has_location MONDO:0005061 lung adenocarcinoma UMLS UMLS:C0152013 one_to_one @@ -26300,7 +26420,7 @@ MONDO:0005062 lymphoma ICD10 ICD10:C85.9 inexact MONDO:0005062 lymphoma ICD9 ICD9:200.0,ICD9:200.1,ICD9:202.80 inexact MONDO:0005062 lymphoma ICDO ICDO:9590/3 one_to_one MONDO:0005062 lymphoma MESH MESH:D008223 one_to_one -MONDO:0005062 lymphoma MONDO MONDO:0002334,MONDO:0005157,MONDO:0015757 subclass +MONDO:0005062 lymphoma MONDO MONDO:0005157,MONDO:0015757 subclass MONDO:0005062 lymphoma MedDRA MedDRA:10025310 one_to_one MONDO:0005062 lymphoma NCIT NCIT:C3208 one_to_one MONDO:0005062 lymphoma ONCOTREE ONCOTREE:MLYM one_to_one @@ -26355,8 +26475,9 @@ MONDO:0005070 neoplasm (disease) HP HP:0002664 one_to_one MONDO:0005070 neoplasm (disease) ICD10 ICD10:C00.D48 one_to_one MONDO:0005070 neoplasm (disease) ICD9 ICD9:140-239.99,ICD9:239.8,ICD9:239.9 inexact MONDO:0005070 neoplasm (disease) MESH MESH:D009369 one_to_one -MONDO:0005070 neoplasm (disease) MONDO MONDO:0021195,MONDO:0023370 subclass +MONDO:0005070 neoplasm (disease) MONDO MONDO:0023370 subclass MONDO:0005070 neoplasm (disease) NCIT NCIT:C3262 one_to_one +MONDO:0005070 neoplasm (disease) ONCOTREE ONCOTREE:OTHER one_to_one MONDO:0005070 neoplasm (disease) SCTID SCTID:55342001 one_to_one MONDO:0005071 nervous system disease DOID DOID:863 one_to_one MONDO:0005071 nervous system disease EFO EFO:0000618 one_to_one @@ -26382,6 +26503,7 @@ MONDO:0005072 neuroblastoma MedDRA MedDRA:10029260 one_to_one MONDO:0005072 neuroblastoma NCIT NCIT:C26791,NCIT:C36108,NCIT:C41428 has_finding MONDO:0005072 neuroblastoma NCIT NCIT:C3270 one_to_one MONDO:0005072 neuroblastoma NIFSTD NIFSTD:birnlex_12631 one_to_one +MONDO:0005072 neuroblastoma ONCOTREE ONCOTREE:NBL one_to_one MONDO:0005072 neuroblastoma Orphanet Orphanet:635 one_to_one MONDO:0005072 neuroblastoma SCTID SCTID:432328008 one_to_one MONDO:0005072 neuroblastoma UMLS UMLS:C0027819,UMLS:CN205405 inexact @@ -26408,6 +26530,7 @@ MONDO:0005075 thyroid gland papillary carcinoma GARD GARD:0012027 one_to_one MONDO:0005075 thyroid gland papillary carcinoma HP HP:0002895 one_to_one MONDO:0005075 thyroid gland papillary carcinoma MONDO MONDO:0002512,MONDO:0015447,MONDO:0024622 subclass MONDO:0005075 thyroid gland papillary carcinoma NCIT NCIT:C4035 one_to_one +MONDO:0005075 thyroid gland papillary carcinoma ONCOTREE ONCOTREE:THPA one_to_one 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 @@ -26518,6 +26641,7 @@ MONDO:0005086 renal cell carcinoma (disease) ICD9 ICD9:189.0 inexact MONDO:0005086 renal cell carcinoma (disease) MESH MESH:D002292 one_to_one MONDO:0005086 renal cell carcinoma (disease) MONDO MONDO:0004970,MONDO:0005206,MONDO:0019749 subclass MONDO:0005086 renal cell carcinoma (disease) MedDRA MedDRA:10067946 one_to_one +MONDO:0005086 renal cell carcinoma (disease) ONCOTREE ONCOTREE:RCC one_to_one MONDO:0005086 renal cell carcinoma (disease) Orphanet Orphanet:217071 one_to_one MONDO:0005086 renal cell carcinoma (disease) SCTID SCTID:702391001 one_to_one MONDO:0005086 renal cell carcinoma (disease) UBERON UBERON:0002113 disease_has_location @@ -26549,6 +26673,7 @@ MONDO:0005090 schizophrenia (disease) NCIT NCIT:C3362 one_to_one MONDO:0005090 schizophrenia (disease) NIFSTD NIFSTD:birnlex_2104 one_to_one MONDO:0005090 schizophrenia (disease) OMIM OMIM:181500 one_to_one MONDO:0005090 schizophrenia (disease) SCTID SCTID:58214004 one_to_one +MONDO:0005090 schizophrenia (disease) http http://identifiers.org/hgnc/11495,http://identifiers.org/hgnc/14867,http://identifiers.org/hgnc/17328,http://identifiers.org/hgnc/18601,http://identifiers.org/hgnc/1932,http://identifiers.org/hgnc/21191,http://identifiers.org/hgnc/2228,http://identifiers.org/hgnc/2671,http://identifiers.org/hgnc/2888,http://identifiers.org/hgnc/2889,http://identifiers.org/hgnc/3024,http://identifiers.org/hgnc/391,http://identifiers.org/hgnc/5293,http://identifiers.org/hgnc/619,http://identifiers.org/hgnc/7436 disease_has_basis_in_dysfunction_of MONDO:0005091 severe acute respiratory syndrome DOID DOID:2945 one_to_one MONDO:0005091 severe acute respiratory syndrome EFO EFO:0000694 one_to_one MONDO:0005091 severe acute respiratory syndrome HP HP:0002315,HP:0012735 disease_has_feature @@ -26608,7 +26733,8 @@ MONDO:0005097 squamous cell lung carcinoma UBERON UBERON:0002048 disease_has_loc MONDO:0005097 squamous cell lung carcinoma UMLS UMLS:C0149782 one_to_one MONDO:0005098 stroke EFO EFO:0000712 one_to_one MONDO:0005098 stroke MESH MESH:D020521 one_to_one -MONDO:0005098 stroke MONDO MONDO:0011057,MONDO:0100035 subclass +MONDO:0005098 stroke MONDO MONDO:0100035 disease_has_feature +MONDO:0005098 stroke MONDO MONDO:0011057 subclass MONDO:0005098 stroke NCIT NCIT:C3390 one_to_one MONDO:0005098 stroke NIFSTD NIFSTD:birnlex_12783 one_to_one MONDO:0005098 stroke UBERON UBERON:0003499 disease_has_location @@ -26655,6 +26781,7 @@ MONDO:0005103 well-differentiated liposarcoma ICDO ICDO:8851/3 one_to_one MONDO:0005103 well-differentiated liposarcoma MONDO MONDO:0005060 subclass MONDO:0005103 well-differentiated liposarcoma NCIT NCIT:C41457,NCIT:C51137 has_finding MONDO:0005103 well-differentiated liposarcoma NCIT NCIT:C4250 one_to_one +MONDO:0005103 well-differentiated liposarcoma ONCOTREE ONCOTREE:WDLS one_to_one MONDO:0005103 well-differentiated liposarcoma Orphanet Orphanet:99971 one_to_one MONDO:0005103 well-differentiated liposarcoma UMLS UMLS:C1370889 one_to_one MONDO:0005104 aJCC grade 1 sarcoma EFO EFO:0000737 one_to_one @@ -26680,7 +26807,7 @@ MONDO:0005106 lipoma ICD10 ICD10:D17,ICD10:D17.9 inexact MONDO:0005106 lipoma ICD9 ICD9:214,ICD9:214.9 inexact MONDO:0005106 lipoma ICDO ICDO:8850/0 one_to_one MONDO:0005106 lipoma MESH MESH:D008067 one_to_one -MONDO:0005106 lipoma MONDO MONDO:0005165 subclass +MONDO:0005106 lipoma MONDO MONDO:0044983 subclass MONDO:0005106 lipoma NCIT NCIT:C3192 one_to_one MONDO:0005106 lipoma UMLS UMLS:C0023798 one_to_one MONDO:0005108 viral infectious disease COHD COHD:440029 one_to_one @@ -27040,6 +27167,7 @@ MONDO:0005153 cervical adenocarcinoma DOID DOID:3702 one_to_one MONDO:0005153 cervical adenocarcinoma EFO EFO:0001416 one_to_one MONDO:0005153 cervical adenocarcinoma MONDO MONDO:0016275 subclass MONDO:0005153 cervical adenocarcinoma NCIT NCIT:C4029 one_to_one +MONDO:0005153 cervical adenocarcinoma ONCOTREE ONCOTREE:CEAD one_to_one MONDO:0005153 cervical adenocarcinoma SCTID SCTID:254887002 one_to_one MONDO:0005154 liver disease COHD COHD:194984 one_to_one MONDO:0005154 liver disease DOID DOID:409 one_to_one @@ -27047,7 +27175,7 @@ MONDO:0005154 liver disease EFO EFO:0001421 one_to_one MONDO:0005154 liver disease ICD10 ICD10:K70-K77,ICD10:K76.9 inexact MONDO:0005154 liver disease ICD9 ICD9:573.8,ICD9:573.9 inexact MONDO:0005154 liver disease MESH MESH:D008107 one_to_one -MONDO:0005154 liver disease MONDO MONDO:0000001,MONDO:0002515,MONDO:0005151,MONDO:0024505 subclass +MONDO:0005154 liver disease MONDO MONDO:0000001,MONDO:0002515,MONDO:0005151,MONDO:0044965 subclass MONDO:0005154 liver disease NCIT NCIT:C3196 one_to_one MONDO:0005154 liver disease SCTID SCTID:235856003 one_to_one MONDO:0005154 liver disease UBERON UBERON:0002107 disease_has_location @@ -27072,8 +27200,9 @@ MONDO:0005156 encephalomyelitis UBERON UBERON:0001017 disease_has_inflammation_s MONDO:0005156 encephalomyelitis UMLS UMLS:C0014070 one_to_one MONDO:0005157 lymphoid neoplasm EFO EFO:0001642 one_to_one MONDO:0005157 lymphoid neoplasm ICD9 ICD9:200.7 inexact -MONDO:0005157 lymphoid neoplasm MONDO MONDO:0005070 subclass +MONDO:0005157 lymphoid neoplasm MONDO MONDO:0044881 subclass MONDO:0005157 lymphoid neoplasm NCIT NCIT:C7065 one_to_one +MONDO:0005157 lymphoid neoplasm ONCOTREE ONCOTREE:LYMPH one_to_one MONDO:0005157 lymphoid neoplasm UMLS UMLS:C0598798 one_to_one MONDO:0005159 prostate carcinoma DOID DOID:10286 one_to_one MONDO:0005159 prostate carcinoma EFO EFO:0001663 one_to_one @@ -27113,6 +27242,7 @@ MONDO:0005164 fibrosarcoma (disease) MONDO MONDO:0021054 excluded_subClassOf MONDO:0005164 fibrosarcoma (disease) MONDO MONDO:0002176,MONDO:0006209,MONDO:0018078 subclass MONDO:0005164 fibrosarcoma (disease) MedDRA MedDRA:10016632 one_to_one MONDO:0005164 fibrosarcoma (disease) NCIT NCIT:C3043 one_to_one +MONDO:0005164 fibrosarcoma (disease) ONCOTREE ONCOTREE:FIBS one_to_one MONDO:0005164 fibrosarcoma (disease) Orphanet Orphanet:2030 one_to_one MONDO:0005164 fibrosarcoma (disease) SCTID SCTID:443250000 one_to_one MONDO:0005164 fibrosarcoma (disease) UMLS UMLS:C0016057 one_to_one @@ -27150,8 +27280,10 @@ MONDO:0005169 neoplasm of mature T-cells or NK-cells UMLS UMLS:C1334640 one_to_o MONDO:0005170 myeloid neoplasm DOID DOID:0070004 one_to_one MONDO:0005170 myeloid neoplasm EFO EFO:0002427 one_to_one MONDO:0005170 myeloid neoplasm ICDO ICDO:9975/1 inexact -MONDO:0005170 myeloid neoplasm MONDO MONDO:0005157 subclass +MONDO:0005170 myeloid neoplasm MONDO MONDO:0005157 excluded_subClassOf +MONDO:0005170 myeloid neoplasm MONDO MONDO:0044881 subclass MONDO:0005170 myeloid neoplasm NCIT NCIT:C9290 one_to_one +MONDO:0005170 myeloid neoplasm ONCOTREE ONCOTREE:MYELOID one_to_one MONDO:0005170 myeloid neoplasm UBERON UBERON:0012429 disease_arises_from_structure MONDO:0005170 myeloid neoplasm UMLS UMLS:C2939461 one_to_one MONDO:0005172 skeletal system disease EFO EFO:0002461 one_to_one @@ -27320,7 +27452,7 @@ MONDO:0005196 teratozoospermia SCTID SCTID:236817003 one_to_one MONDO:0005196 teratozoospermia UMLS UMLS:C0403824 one_to_one MONDO:0005197 thymus neoplasm EFO EFO:0002626 one_to_one MONDO:0005197 thymus neoplasm ICD9 ICD9:239.89 inexact -MONDO:0005197 thymus neoplasm MONDO MONDO:0002082,MONDO:0003393,MONDO:0005070,MONDO:0021350 subclass +MONDO:0005197 thymus neoplasm MONDO MONDO:0002082,MONDO:0002334,MONDO:0003393,MONDO:0005070,MONDO:0021350 subclass MONDO:0005197 thymus neoplasm NCIT NCIT:C3412 one_to_one MONDO:0005197 thymus neoplasm ONCOTREE ONCOTREE:THYMUS one_to_one MONDO:0005197 thymus neoplasm Orphanet Orphanet:100100 one_to_one @@ -27382,6 +27514,7 @@ MONDO:0005207 choriocarcinoma (disease) MONDO MONDO:0002178,MONDO:0004970 exclud MONDO:0005207 choriocarcinoma (disease) MONDO MONDO:0002872,MONDO:0018080 subclass MONDO:0005207 choriocarcinoma (disease) NCIT NCIT:C26791,NCIT:C36184,NCIT:C54560 has_finding MONDO:0005207 choriocarcinoma (disease) NCIT NCIT:C2948 one_to_one +MONDO:0005207 choriocarcinoma (disease) ONCOTREE ONCOTREE:BCCA one_to_one MONDO:0005207 choriocarcinoma (disease) SCTID SCTID:188188009 one_to_one MONDO:0005207 choriocarcinoma (disease) UMLS UMLS:C0008497 one_to_one MONDO:0005208 amelanotic skin melanoma DOID DOID:10054 one_to_one @@ -27446,7 +27579,7 @@ MONDO:0005215 vulvar carcinoma SCTID SCTID:447882007 one_to_one MONDO:0005215 vulvar carcinoma UBERON UBERON:0000997 disease_has_location MONDO:0005215 vulvar carcinoma UMLS UMLS:C0677055 one_to_one MONDO:0005216 hypopharyngeal carcinoma EFO EFO:0002938 one_to_one -MONDO:0005216 hypopharyngeal carcinoma MONDO MONDO:0004993,MONDO:0005806,MONDO:0021345 subclass +MONDO:0005216 hypopharyngeal carcinoma MONDO MONDO:0002038,MONDO:0004993,MONDO:0005806,MONDO:0021345 subclass MONDO:0005216 hypopharyngeal carcinoma NCIT NCIT:C9465 one_to_one MONDO:0005216 hypopharyngeal carcinoma UBERON UBERON:0001051 disease_has_location MONDO:0005217 familial cardiomyopathy EFO EFO:0002945 one_to_one @@ -27480,6 +27613,7 @@ MONDO:0005220 collecting duct carcinoma ICDO ICDO:8319/3 one_to_one MONDO:0005220 collecting duct carcinoma MONDO MONDO:0004993,MONDO:0005086 subclass MONDO:0005220 collecting duct carcinoma NCIT NCIT:C34615,NCIT:C35925,NCIT:C36104 has_finding MONDO:0005220 collecting duct carcinoma NCIT NCIT:C6194 one_to_one +MONDO:0005220 collecting duct carcinoma ONCOTREE ONCOTREE:CDRCC one_to_one MONDO:0005220 collecting duct carcinoma Orphanet Orphanet:247203 one_to_one MONDO:0005220 collecting duct carcinoma UBERON UBERON:0001232 disease_has_location MONDO:0005220 collecting duct carcinoma UMLS UMLS:C1266044 one_to_one @@ -27564,6 +27698,7 @@ MONDO:0005233 non-small cell lung carcinoma (disease) KEGG KEGG:05223 one_to_one MONDO:0005233 non-small cell lung carcinoma (disease) MESH MESH:D002289 one_to_one MONDO:0005233 non-small cell lung carcinoma (disease) MONDO MONDO:0005138 subclass MONDO:0005233 non-small cell lung carcinoma (disease) NCIT NCIT:C2926 one_to_one +MONDO:0005233 non-small cell lung carcinoma (disease) ONCOTREE ONCOTREE:NSCLC one_to_one MONDO:0005233 non-small cell lung carcinoma (disease) SCTID SCTID:254637007 one_to_one MONDO:0005233 non-small cell lung carcinoma (disease) UMLS UMLS:C0007131 one_to_one MONDO:0005235 smoldering plasma cell myeloma DOID DOID:9551 one_to_one @@ -27588,7 +27723,8 @@ MONDO:0005240 kidney disease EFO EFO:0003086 one_to_one MONDO:0005240 kidney disease ICD10 ICD10:N08,ICD10:N28.9 inexact MONDO:0005240 kidney disease ICD9 ICD9:583.81 inexact MONDO:0005240 kidney disease MESH MESH:D007674 one_to_one -MONDO:0005240 kidney disease MONDO MONDO:0000001,MONDO:0002118,MONDO:0024505 subclass +MONDO:0005240 kidney disease MONDO MONDO:0000001,MONDO:0002118,MONDO:0044965 subclass +MONDO:0005240 kidney disease NCIT NCIT:C3149 one_to_one MONDO:0005240 kidney disease SCTID SCTID:90708001 one_to_one MONDO:0005240 kidney disease UBERON UBERON:0002113 disease_has_location MONDO:0005240 kidney disease UMLS UMLS:C0022658 one_to_one @@ -27625,11 +27761,6 @@ MONDO:0005247 urinary tract infection (disease) MONDO MONDO:0002118,MONDO:000511 MONDO:0005247 urinary tract infection (disease) NCIT NCIT:C50791 one_to_one MONDO:0005247 urinary tract infection (disease) SCTID SCTID:68566005 one_to_one MONDO:0005247 urinary tract infection (disease) UBERON UBERON:0001008 disease_has_location -MONDO:0005248 adrenocortical adenoma (disease) DOID DOID:0050891 one_to_one -MONDO:0005248 adrenocortical adenoma (disease) EFO EFO:0003104 one_to_one -MONDO:0005248 adrenocortical adenoma (disease) HP HP:0008196,HP:0008256 inexact -MONDO:0005248 adrenocortical adenoma (disease) MESH MESH:D018246 one_to_one -MONDO:0005248 adrenocortical adenoma (disease) MONDO MONDO:0003924 subclass MONDO:0005249 pneumonia COHD COHD:255848 one_to_one MONDO:0005249 pneumonia DOID DOID:552 one_to_one MONDO:0005249 pneumonia EFO EFO:0003106 one_to_one @@ -27693,6 +27824,7 @@ MONDO:0005260 autism (disease) MONDO MONDO:0005258 subclass MONDO:0005260 autism (disease) NCIT NCIT:C97161 one_to_one MONDO:0005260 autism (disease) OMIM OMIM:209850 one_to_one MONDO:0005260 autism (disease) OMIMPS OMIMPS:209850 one_to_one +MONDO:0005260 autism (disease) http http://identifiers.org/hgnc/11164 disease_has_basis_in_dysfunction_of MONDO:0005261 pervasive developmental disorder - not otherwise specified DOID DOID:0060042 one_to_one MONDO:0005261 pervasive developmental disorder - not otherwise specified EFO EFO:0003759 one_to_one MONDO:0005261 pervasive developmental disorder - not otherwise specified MONDO MONDO:0005258 subclass @@ -27841,7 +27973,7 @@ MONDO:0005281 gallbladder disease EFO EFO:0003832 one_to_one MONDO:0005281 gallbladder disease ICD10 ICD10:K82,ICD10:K82.9 inexact MONDO:0005281 gallbladder disease ICD9 ICD9:575.8,ICD9:575.9 inexact MONDO:0005281 gallbladder disease MESH MESH:D005705 one_to_one -MONDO:0005281 gallbladder disease MONDO MONDO:0000001,MONDO:0002515,MONDO:0024505 subclass +MONDO:0005281 gallbladder disease MONDO MONDO:0000001,MONDO:0002515,MONDO:0044965 subclass MONDO:0005281 gallbladder disease NCIT NCIT:C34631 one_to_one MONDO:0005281 gallbladder disease OMIMPS OMIMPS:600803 one_to_one MONDO:0005281 gallbladder disease SCTID SCTID:39621005 one_to_one @@ -27867,6 +27999,7 @@ MONDO:0005283 retinal disease NCIT NCIT:C62601 one_to_one MONDO:0005283 retinal disease SCTID SCTID:29555009 one_to_one MONDO:0005283 retinal disease UBERON UBERON:0000966 disease_has_location MONDO:0005283 retinal disease UMLS UMLS:C0035309 one_to_one +MONDO:0005283 retinal disease http http://identifiers.org/hgnc/8002 one_to_one MONDO:0005284 chronic progressive multiple sclerosis EFO EFO:0003840 one_to_one MONDO:0005284 chronic progressive multiple sclerosis MESH MESH:D020528 one_to_one MONDO:0005284 chronic progressive multiple sclerosis MONDO MONDO:0005301 subclass @@ -27980,6 +28113,7 @@ MONDO:0005298 osteoporosis MONDO MONDO:0000837 subclass MONDO:0005298 osteoporosis NCIT NCIT:C3298 one_to_one MONDO:0005298 osteoporosis OMIM OMIM:166710 one_to_one MONDO:0005298 osteoporosis SCTID SCTID:64859006 one_to_one +MONDO:0005298 osteoporosis http http://identifiers.org/hgnc/12679,http://identifiers.org/hgnc/1440,http://identifiers.org/hgnc/16501,http://identifiers.org/hgnc/2197,http://identifiers.org/hgnc/2198,http://identifiers.org/hgnc/6697 disease_has_basis_in_dysfunction_of MONDO:0005299 brain ischemia DOID DOID:2316 one_to_one MONDO:0005299 brain ischemia EFO EFO:0003883 one_to_one MONDO:0005299 brain ischemia ICD9 ICD9:348.89 inexact @@ -28060,7 +28194,7 @@ MONDO:0005308 ciliopathy DOID DOID:0060340 one_to_one MONDO:0005308 ciliopathy EFO EFO:0003900 one_to_one MONDO:0005308 ciliopathy GO GO:0005929 disease_has_basis_in_dysfunction_of MONDO:0005308 ciliopathy GTR GTR:AN0966173 one_to_one -MONDO:0005308 ciliopathy MONDO MONDO:0003847,MONDO:0021197 subclass +MONDO:0005308 ciliopathy MONDO MONDO:0000001,MONDO:0003847,MONDO:0021197 subclass MONDO:0005308 ciliopathy UMLS UMLS:CN580792 one_to_one MONDO:0005309 spinal fracture EFO EFO:0003902 one_to_one MONDO:0005309 spinal fracture MESH MESH:D016103 one_to_one @@ -28126,13 +28260,13 @@ MONDO:0005318 canker sore SCTID SCTID:427617000 one_to_one MONDO:0005319 humerus fracture COHD COHD:442619 one_to_one MONDO:0005319 humerus fracture EFO EFO:0003943 one_to_one MONDO:0005319 humerus fracture MESH MESH:D006810 one_to_one -MONDO:0005319 humerus fracture MONDO MONDO:0005315,MONDO:0024505 subclass +MONDO:0005319 humerus fracture MONDO MONDO:0005315,MONDO:0044967 subclass MONDO:0005319 humerus fracture SCTID SCTID:66308002 one_to_one MONDO:0005319 humerus fracture UBERON UBERON:0000976 disease_has_location MONDO:0005320 tibia fracture COHD COHD:440543 one_to_one MONDO:0005320 tibia fracture EFO EFO:0003944 one_to_one MONDO:0005320 tibia fracture MESH MESH:D013978 one_to_one -MONDO:0005320 tibia fracture MONDO MONDO:0005315,MONDO:0024505 subclass +MONDO:0005320 tibia fracture MONDO MONDO:0005315,MONDO:0044967 subclass MONDO:0005320 tibia fracture SCTID SCTID:31978002 one_to_one MONDO:0005320 tibia fracture UBERON UBERON:0000979 disease_has_location MONDO:0005321 Fuchs' endothelial dystrophy DC DC:0000643 one_to_one @@ -28149,7 +28283,7 @@ MONDO:0005321 Fuchs' endothelial dystrophy UMLS UMLS:C0016781,UMLS:CN207231 inex MONDO:0005322 ulna fracture COHD COHD:4182555 one_to_one MONDO:0005322 ulna fracture EFO EFO:0003950 one_to_one MONDO:0005322 ulna fracture MESH MESH:D014458 one_to_one -MONDO:0005322 ulna fracture MONDO MONDO:0005315,MONDO:0024505 subclass +MONDO:0005322 ulna fracture MONDO MONDO:0005315,MONDO:0044967 subclass MONDO:0005322 ulna fracture SCTID SCTID:54556006 one_to_one MONDO:0005322 ulna fracture UBERON UBERON:0001424 disease_has_location MONDO:0005323 bacterial sexually transmitted disease EFO EFO:0003955 one_to_one @@ -28175,7 +28309,7 @@ MONDO:0005326 sunburn MONDO MONDO:0005093 subclass MONDO:0005326 sunburn SCTID SCTID:403194002 one_to_one MONDO:0005327 hip fracture EFO EFO:0003964 one_to_one MONDO:0005327 hip fracture MESH MESH:D006620 one_to_one -MONDO:0005327 hip fracture MONDO MONDO:0005315,MONDO:0024505 subclass +MONDO:0005327 hip fracture MONDO MONDO:0005315,MONDO:0044967 subclass MONDO:0005327 hip fracture SCTID SCTID:263225007 one_to_one MONDO:0005327 hip fracture UBERON UBERON:0000981 disease_has_location MONDO:0005328 eye disease COHD COHD:375252 one_to_one @@ -28197,6 +28331,7 @@ MONDO:0005333 hyperthyroxinemia MESH MESH:D006981 one_to_one MONDO:0005333 hyperthyroxinemia MONDO MONDO:0003240 subclass MONDO:0005333 hyperthyroxinemia Orphanet Orphanet:119576 one_to_one MONDO:0005333 hyperthyroxinemia UMLS UMLS:C0020551 one_to_one +MONDO:0005333 hyperthyroxinemia http http://identifiers.org/hgnc/399 one_to_one MONDO:0005334 hereditary nephritis EFO EFO:0004128 one_to_one MONDO:0005334 hereditary nephritis MESH MESH:D009394 one_to_one MONDO:0005334 hereditary nephritis MONDO MONDO:0021152 has_modifier @@ -28211,7 +28346,7 @@ MONDO:0005336 myopathy EFO EFO:0004145 one_to_one MONDO:0005336 myopathy GO GO:0043292 disease_has_basis_in_dysfunction_of MONDO:0005336 myopathy ICD10 ICD10:G72.9,ICD10:M60-M63,ICD10:M62.9 inexact MONDO:0005336 myopathy ICD9 ICD9:359.8,ICD9:359.9,ICD9:728.3 inexact -MONDO:0005336 myopathy MONDO MONDO:0003939,MONDO:0021197 subclass +MONDO:0005336 myopathy MONDO MONDO:0003939,MONDO:0044974 subclass MONDO:0005336 myopathy NCIT NCIT:C101216 one_to_one MONDO:0005336 myopathy SCTID SCTID:129565002 one_to_one MONDO:0005336 myopathy UMLS UMLS:C0026848 one_to_one @@ -28396,7 +28531,8 @@ MONDO:0005362 erectile dysfunction (disease) EFO EFO:0004234 one_to_one MONDO:0005362 erectile dysfunction (disease) GO GO:0043084 disease_disrupts MONDO:0005362 erectile dysfunction (disease) HP HP:0000802 one_to_one MONDO:0005362 erectile dysfunction (disease) MESH MESH:D007172 one_to_one -MONDO:0005362 erectile dysfunction (disease) MONDO MONDO:0000001,MONDO:0002036,MONDO:0002134,MONDO:0021195 subclass +MONDO:0005362 erectile dysfunction (disease) MONDO MONDO:0000001,MONDO:0002036,MONDO:0002134 subclass +MONDO:0005362 erectile dysfunction (disease) NCIT NCIT:C34801 one_to_one MONDO:0005362 erectile dysfunction (disease) SCTID SCTID:397803000 one_to_one MONDO:0005363 focal segmental glomerulosclerosis DOID DOID:1312 one_to_one MONDO:0005363 focal segmental glomerulosclerosis EFO EFO:0004236 one_to_one @@ -28531,7 +28667,7 @@ MONDO:0005380 osteonecrosis GO GO:0008015 disease_has_basis_in_disruption_of MONDO:0005380 osteonecrosis ICD10 ICD10:M87,ICD10:M87.0,ICD10:M87.1,ICD10:M87.2,ICD10:M87.3,ICD10:M87.8,ICD10:M87.9 inexact MONDO:0005380 osteonecrosis ICD9 ICD9:732.3,ICD9:733.4,ICD9:733.41,ICD9:733.42,ICD9:733.43,ICD9:733.44,ICD9:733.49 inexact MONDO:0005380 osteonecrosis MESH MESH:D010020 one_to_one -MONDO:0005380 osteonecrosis MONDO MONDO:0015940,MONDO:0019684,MONDO:0021195 subclass +MONDO:0005380 osteonecrosis MONDO MONDO:0015940,MONDO:0019684 subclass MONDO:0005380 osteonecrosis NCIT NCIT:C34880 one_to_one MONDO:0005380 osteonecrosis Orphanet Orphanet:399158 one_to_one MONDO:0005380 osteonecrosis SCTID SCTID:240196003 one_to_one @@ -28697,7 +28833,7 @@ MONDO:0005402 lymphoid leukemia (disease) HP HP:0005526 one_to_one MONDO:0005402 lymphoid leukemia (disease) ICD9 ICD9:204,ICD9:204.2,ICD9:204.20 inexact MONDO:0005402 lymphoid leukemia (disease) ICDO ICDO:981-983,ICDO:9820/3 inexact MONDO:0005402 lymphoid leukemia (disease) MESH MESH:D007945 one_to_one -MONDO:0005402 lymphoid leukemia (disease) MONDO MONDO:0001018 subclass +MONDO:0005402 lymphoid leukemia (disease) MONDO MONDO:0001018,MONDO:0005157 subclass MONDO:0005402 lymphoid leukemia (disease) NCIT NCIT:C7539 one_to_one MONDO:0005402 lymphoid leukemia (disease) SCTID SCTID:188726003 one_to_one MONDO:0005402 lymphoid leukemia (disease) UMLS UMLS:C0023448,UMLS:C0152271 inexact @@ -28743,6 +28879,7 @@ MONDO:0005411 gallbladder cancer ICD9 ICD9:156.0,ICD9:156.8 inexact MONDO:0005411 gallbladder cancer MONDO MONDO:0003060 excluded_subClassOf MONDO:0005411 gallbladder cancer MONDO MONDO:0002516,MONDO:0004992,MONDO:0021253 subclass MONDO:0005411 gallbladder cancer NCIT NCIT:C7481 one_to_one +MONDO:0005411 gallbladder cancer ONCOTREE ONCOTREE:GBC one_to_one MONDO:0005411 gallbladder cancer SCTID SCTID:363353009 one_to_one MONDO:0005411 gallbladder cancer UBERON UBERON:0002110 disease_has_location MONDO:0005411 gallbladder cancer UMLS UMLS:C0153452 one_to_one @@ -28839,7 +28976,8 @@ MONDO:0005439 familial hypercholesterolemia EFO EFO:0004911 one_to_one MONDO:0005439 familial hypercholesterolemia HP HP:0003124 disease_has_feature MONDO:0005439 familial hypercholesterolemia ICD10 ICD10:E78.0 inexact MONDO:0005439 familial hypercholesterolemia ICD9 ICD9:V19.8 one_to_one -MONDO:0005439 familial hypercholesterolemia MONDO MONDO:0001336 subclass +MONDO:0005439 familial hypercholesterolemia MONDO MONDO:0001336,MONDO:0037748 subclass +MONDO:0005439 familial hypercholesterolemia NCIT NCIT:C34704 one_to_one MONDO:0005439 familial hypercholesterolemia SCTID SCTID:190773008 one_to_one MONDO:0005440 embryonal carcinoma DOID DOID:3308 one_to_one MONDO:0005440 embryonal carcinoma EFO EFO:0004986 one_to_one @@ -28851,6 +28989,7 @@ MONDO:0005440 embryonal carcinoma MONDO MONDO:0004993 excluded_subClassOf MONDO:0005440 embryonal carcinoma MONDO MONDO:0003578 subclass MONDO:0005440 embryonal carcinoma NCIT NCIT:C35912,NCIT:C35921,NCIT:C35960,NCIT:C41433 has_finding MONDO:0005440 embryonal carcinoma NCIT NCIT:C3752 one_to_one +MONDO:0005440 embryonal carcinoma ONCOTREE ONCOTREE:EMBCA one_to_one MONDO:0005440 embryonal carcinoma Orphanet Orphanet:180226 one_to_one MONDO:0005440 embryonal carcinoma UMLS UMLS:C0206659 one_to_one MONDO:0005441 otitis media (disease) COHD COHD:372328 one_to_one @@ -28878,7 +29017,7 @@ MONDO:0005445 visceral leishmaniasis HP HP:0001824 disease_has_feature MONDO:0005445 visceral leishmaniasis ICD10 ICD10:B55.0 inexact MONDO:0005445 visceral leishmaniasis ICD9 ICD9:085.0 one_to_one MONDO:0005445 visceral leishmaniasis MESH MESH:D007898 one_to_one -MONDO:0005445 visceral leishmaniasis MONDO MONDO:0011989,MONDO:0021199,MONDO:0024505 subclass +MONDO:0005445 visceral leishmaniasis MONDO MONDO:0011989 subclass MONDO:0005445 visceral leishmaniasis NCIT NCIT:C34771 one_to_one MONDO:0005445 visceral leishmaniasis OMIMPS OMIMPS:608207 one_to_one MONDO:0005445 visceral leishmaniasis SCTID SCTID:186803007 one_to_one @@ -28981,6 +29120,7 @@ MONDO:0005462 primitive neuroectodermal tumor MONDO MONDO:0005872 excluded_subCl MONDO:0005462 primitive neuroectodermal tumor MONDO MONDO:0002510,MONDO:0016708,MONDO:0018080 subclass MONDO:0005462 primitive neuroectodermal tumor NCIT NCIT:C53978 has_finding MONDO:0005462 primitive neuroectodermal tumor NCIT NCIT:C3716 one_to_one +MONDO:0005462 primitive neuroectodermal tumor ONCOTREE ONCOTREE:PNET one_to_one MONDO:0005462 primitive neuroectodermal tumor UBERON UBERON:0002346 disease_arises_from_structure MONDO:0005463 aortic valve calcification (disease) EFO EFO:0005239 one_to_one MONDO:0005463 aortic valve calcification (disease) HP HP:0004380 one_to_one @@ -29143,7 +29283,7 @@ MONDO:0005492 urticaria (disease) SCTID SCTID:126485001 one_to_one MONDO:0005492 urticaria (disease) UMLS UMLS:C0042109 one_to_one MONDO:0005493 delayed encephalopathy after acute carbon monoxide poisoning ECTO ECTO:0000207 realized_in_response_to MONDO:0005493 delayed encephalopathy after acute carbon monoxide poisoning EFO EFO:0005534 one_to_one -MONDO:0005493 delayed encephalopathy after acute carbon monoxide poisoning MONDO MONDO:0005560 subclass +MONDO:0005493 delayed encephalopathy after acute carbon monoxide poisoning MONDO MONDO:0005560,MONDO:0029001 subclass 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 @@ -29158,7 +29298,7 @@ MONDO:0005495 adrenal gland disease EFO EFO:0005539 one_to_one MONDO:0005495 adrenal gland disease ICD10 ICD10:E27.9 one_to_one MONDO:0005495 adrenal gland disease ICD9 ICD9:255,ICD9:255.8,ICD9:255.9 inexact MONDO:0005495 adrenal gland disease MESH MESH:D000307 one_to_one -MONDO:0005495 adrenal gland disease MONDO MONDO:0000001,MONDO:0005151,MONDO:0024505 subclass +MONDO:0005495 adrenal gland disease MONDO MONDO:0000001,MONDO:0005151,MONDO:0044965 subclass MONDO:0005495 adrenal gland disease NCIT NCIT:C26690 one_to_one MONDO:0005495 adrenal gland disease SCTID SCTID:30171000 one_to_one MONDO:0005495 adrenal gland disease UBERON UBERON:0002369 disease_has_location @@ -29237,7 +29377,8 @@ MONDO:0005505 dysembryoplastic neuroepithelial tumor DOID DOID:2679 one_to_one MONDO:0005505 dysembryoplastic neuroepithelial tumor EFO EFO:0005551 one_to_one MONDO:0005505 dysembryoplastic neuroepithelial tumor GARD GARD:0010640 one_to_one MONDO:0005505 dysembryoplastic neuroepithelial tumor ICDO ICDO:9413/0 one_to_one -MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO MONDO:0015139,MONDO:0016729,MONDO:0021211,MONDO:0100035 subclass +MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO MONDO:0100035 disease_has_feature +MONDO:0005505 dysembryoplastic neuroepithelial tumor MONDO MONDO:0016729,MONDO:0021211 subclass MONDO:0005505 dysembryoplastic neuroepithelial tumor NCIT NCIT:C2962,NCIT:C35899,NCIT:C36156,NCIT:C41471,NCIT:C42083,NCIT:C42088,NCIT:C42089 has_finding MONDO:0005505 dysembryoplastic neuroepithelial tumor NCIT NCIT:C9505 one_to_one MONDO:0005505 dysembryoplastic neuroepithelial tumor ONCOTREE ONCOTREE:DNT one_to_one @@ -29328,7 +29469,7 @@ MONDO:0005517 pharynx cancer EFO EFO:0005577 one_to_one MONDO:0005517 pharynx cancer MESH MESH:D010610 one_to_one MONDO:0005517 pharynx cancer MONDO MONDO:0000376,MONDO:0002516,MONDO:0004992,MONDO:0021246,MONDO:0021310 subclass MONDO:0005517 pharynx cancer NCIT NCIT:C7545 one_to_one -MONDO:0005517 pharynx cancer UBERON UBERON:0001042,UBERON:0006562 disease_has_location +MONDO:0005517 pharynx cancer UBERON UBERON:0001042 disease_has_location MONDO:0005518 pseudohermaphroditism COHD COHD:73584 one_to_one MONDO:0005518 pseudohermaphroditism DOID DOID:3765 one_to_one MONDO:0005518 pseudohermaphroditism EFO EFO:0005579 one_to_one @@ -29342,7 +29483,7 @@ MONDO:0005519 renal pelvis carcinoma DOID DOID:4919 one_to_one MONDO:0005519 renal pelvis carcinoma EFO EFO:0005582 one_to_one MONDO:0005519 renal pelvis carcinoma ICD10 ICD10:C65 one_to_one MONDO:0005519 renal pelvis carcinoma ICD9 ICD9:189.1 one_to_one -MONDO:0005519 renal pelvis carcinoma MONDO MONDO:0003719,MONDO:0004992,MONDO:0005206,MONDO:0006481 subclass +MONDO:0005519 renal pelvis carcinoma MONDO MONDO:0004993,MONDO:0005206,MONDO:0006481,MONDO:0044919 subclass MONDO:0005519 renal pelvis carcinoma NCIT NCIT:C6142 one_to_one MONDO:0005519 renal pelvis carcinoma SCTID SCTID:363457009 one_to_one MONDO:0005519 renal pelvis carcinoma UBERON UBERON:0001224 disease_has_location @@ -29364,6 +29505,7 @@ MONDO:0005522 small intestine carcinoma DOID DOID:4907 one_to_one MONDO:0005522 small intestine carcinoma EFO EFO:0005588 one_to_one MONDO:0005522 small intestine carcinoma MONDO MONDO:0000956,MONDO:0004993,MONDO:0006181 subclass MONDO:0005522 small intestine carcinoma NCIT NCIT:C7724 one_to_one +MONDO:0005522 small intestine carcinoma ONCOTREE ONCOTREE:SIC one_to_one MONDO:0005522 small intestine carcinoma SCTID SCTID:448664009 one_to_one MONDO:0005522 small intestine carcinoma UBERON UBERON:0002108 disease_has_location MONDO:0005523 steroid inherited metabolic disorder DOID DOID:1701 one_to_one @@ -29452,7 +29594,7 @@ MONDO:0005535 oral Crohn disease UMLS UMLS:C0399497 one_to_one MONDO:0005536 pancolitis EFO EFO:0005626 one_to_one MONDO:0005536 pancolitis MONDO MONDO:0005101 subclass MONDO:0005537 perianal Crohn disease EFO EFO:0005627 one_to_one -MONDO:0005537 perianal Crohn disease MONDO MONDO:0002269,MONDO:0005011,MONDO:0024505,MONDO:0024634 subclass +MONDO:0005537 perianal Crohn disease MONDO MONDO:0002269,MONDO:0005011,MONDO:0024634 subclass MONDO:0005537 perianal Crohn disease SCTID SCTID:235796008 one_to_one MONDO:0005537 perianal Crohn disease UBERON UBERON:0000159 disease_has_inflammation_site MONDO:0005537 perianal Crohn disease UBERON UBERON:0001353 disease_has_location @@ -29492,7 +29634,8 @@ MONDO:0005543 autoimmune hepatitis type 1 ICD9 ICD9:571.49 one_to_one MONDO:0005543 autoimmune hepatitis type 1 MONDO MONDO:0016264 subclass MONDO:0005543 autoimmune hepatitis type 1 SCTID SCTID:197284004,SCTID:721711009 inexact MONDO:0005544 hippocampal sclerosis of aging EFO EFO:0005678 one_to_one -MONDO:0005544 hippocampal sclerosis of aging MONDO MONDO:0100035 subclass +MONDO:0005544 hippocampal sclerosis of aging MONDO MONDO:0100035 disease_has_feature +MONDO:0005544 hippocampal sclerosis of aging MONDO MONDO:0005560 subclass MONDO:0005544 hippocampal sclerosis of aging UBERON UBERON:0001954 disease_has_location MONDO:0005545 staphylococcus aureus infection EFO EFO:0005681 one_to_one MONDO:0005545 staphylococcus aureus infection MONDO MONDO:0005550,MONDO:0024313 subclass @@ -29673,6 +29816,7 @@ MONDO:0005569 cartilage disease UBERON UBERON:0002418 disease_has_location MONDO:0005569 cartilage disease UMLS UMLS:C0007302 one_to_one MONDO:0005570 hematological system disease DOID DOID:74 one_to_one MONDO:0005570 hematological system disease EFO EFO:0005803 one_to_one +MONDO:0005570 hematological system disease GTR GTR:AN1320635 one_to_one MONDO:0005570 hematological system disease ICD10 ICD10:D75.9 one_to_one MONDO:0005570 hematological system disease ICD9 ICD9:280-289.99,ICD9:289.8,ICD9:289.9 inexact MONDO:0005570 hematological system disease MESH MESH:D006402 one_to_one @@ -29680,7 +29824,7 @@ MONDO:0005570 hematological system disease MONDO MONDO:0000001,MONDO:0021199 sub MONDO:0005570 hematological system disease NCIT NCIT:C26323 one_to_one MONDO:0005570 hematological system disease SCTID SCTID:414022008 one_to_one MONDO:0005570 hematological system disease UBERON UBERON:0002390 disease_has_location -MONDO:0005570 hematological system disease UMLS UMLS:C0018939 one_to_one +MONDO:0005570 hematological system disease UMLS UMLS:C0018939,UMLS:CN882913 inexact MONDO:0005571 polycythemia (disease) DOID DOID:8432 one_to_one MONDO:0005571 polycythemia (disease) EFO EFO:0005804 one_to_one MONDO:0005571 polycythemia (disease) HP HP:0001901 one_to_one @@ -29771,6 +29915,7 @@ MONDO:0005586 head and neck neoplasm EFO EFO:0005950 one_to_one MONDO:0005586 head and neck neoplasm ICD9 ICD9:239.89 inexact MONDO:0005586 head and neck neoplasm MONDO MONDO:0005070,MONDO:0021059 subclass MONDO:0005586 head and neck neoplasm NCIT NCIT:C3077 one_to_one +MONDO:0005586 head and neck neoplasm ONCOTREE ONCOTREE:HEADNECK one_to_one MONDO:0005586 head and neck neoplasm SCTID SCTID:255055008 one_to_one MONDO:0005586 head and neck neoplasm UBERON UBERON:0007811 disease_has_location MONDO:0005586 head and neck neoplasm UMLS UMLS:C0018671 one_to_one @@ -30389,9 +30534,16 @@ MONDO:0005673 blind loop syndrome SCTID SCTID:66379009 one_to_one MONDO:0005673 blind loop syndrome UMLS UMLS:C0005750 one_to_one MONDO:0005674 bone giant cell tumor DOID DOID:4305 one_to_one MONDO:0005674 bone giant cell tumor EFO EFO:0007176 one_to_one +MONDO:0005674 bone giant cell tumor GARD GARD:0013046 one_to_one +MONDO:0005674 bone giant cell tumor HP HP:0011847 one_to_one +MONDO:0005674 bone giant cell tumor ICD10 ICD10:D48.0 one_to_one MONDO:0005674 bone giant cell tumor MESH MESH:D018212 one_to_one -MONDO:0005674 bone giant cell tumor MONDO MONDO:0005089 subclass +MONDO:0005674 bone giant cell tumor MONDO MONDO:0021054 subclass MONDO:0005674 bone giant cell tumor NCIT NCIT:C121932 one_to_one +MONDO:0005674 bone giant cell tumor ONCOTREE ONCOTREE:GCTB one_to_one +MONDO:0005674 bone giant cell tumor Orphanet Orphanet:363976 one_to_one +MONDO:0005674 bone giant cell tumor SCTID SCTID:697970009 one_to_one +MONDO:0005674 bone giant cell tumor UMLS UMLS:C0206638 one_to_one MONDO:0005675 border disease EFO EFO:0007177 one_to_one MONDO:0005675 border disease MESH MESH:D001882 one_to_one MONDO:0005675 border disease MONDO MONDO:0005583 subclass @@ -30657,6 +30809,7 @@ 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 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 MONDO:0005711 congenital diaphragmatic hernia UMLS UMLS:C0235833 one_to_one MONDO:0005712 congenital nystagmus COHD COHD:373489 one_to_one @@ -30893,6 +31046,7 @@ MONDO:0005744 yolk sac tumor ICDO ICDO:9071/3 one_to_one MONDO:0005744 yolk sac tumor MONDO MONDO:0003578 subclass MONDO:0005744 yolk sac tumor MedDRA MedDRA:10048251 one_to_one MONDO:0005744 yolk sac tumor NCIT NCIT:C3011 one_to_one +MONDO:0005744 yolk sac tumor ONCOTREE ONCOTREE:BYST one_to_one MONDO:0005744 yolk sac tumor Orphanet Orphanet:876 one_to_one MONDO:0005744 yolk sac tumor SCTID SCTID:404081005 one_to_one MONDO:0005744 yolk sac tumor UMLS UMLS:C0014145 one_to_one @@ -31035,6 +31189,7 @@ MONDO:0005764 follicular dendritic cell sarcoma MESH MESH:D054740 one_to_one MONDO:0005764 follicular dendritic cell sarcoma MONDO MONDO:0004380,MONDO:0005089,MONDO:0017345,MONDO:0020082 subclass MONDO:0005764 follicular dendritic cell sarcoma NCIT NCIT:C35888,NCIT:C35889,NCIT:C36105,NCIT:C39808,NCIT:C40993,NCIT:C43269,NCIT:C43270,NCIT:C50764 has_finding MONDO:0005764 follicular dendritic cell sarcoma NCIT NCIT:C9281 one_to_one +MONDO:0005764 follicular dendritic cell sarcoma ONCOTREE ONCOTREE:FDCS one_to_one MONDO:0005764 follicular dendritic cell sarcoma Orphanet Orphanet:86902 one_to_one MONDO:0005764 follicular dendritic cell sarcoma UMLS UMLS:C1260325 one_to_one MONDO:0005765 foot and mouth disease EFO EFO:0007277 one_to_one @@ -31129,7 +31284,7 @@ MONDO:0005775 glucosephosphate dehydrogenase deficiency DOID DOID:2862 one_to_on MONDO:0005775 glucosephosphate dehydrogenase deficiency EFO EFO:0007287 one_to_one MONDO:0005775 glucosephosphate dehydrogenase deficiency GO GO:0004345 disease_has_basis_in_disruption_of MONDO:0005775 glucosephosphate dehydrogenase deficiency MESH MESH:D005955 one_to_one -MONDO:0005775 glucosephosphate dehydrogenase deficiency MONDO MONDO:0019052,MONDO:0019214,MONDO:0021196 subclass +MONDO:0005775 glucosephosphate dehydrogenase deficiency MONDO MONDO:0019052,MONDO:0019214,MONDO:0044976 subclass MONDO:0005775 glucosephosphate dehydrogenase deficiency NCIT NCIT:C98933 one_to_one MONDO:0005775 glucosephosphate dehydrogenase deficiency SCTID SCTID:62403005 one_to_one MONDO:0005775 glucosephosphate dehydrogenase deficiency UMLS UMLS:C2939465 one_to_one @@ -31401,6 +31556,7 @@ MONDO:0005813 interdigitating dendritic cell sarcoma MESH MESH:D054739 one_to_on MONDO:0005813 interdigitating dendritic cell sarcoma MONDO MONDO:0004380 subclass MONDO:0005813 interdigitating dendritic cell sarcoma NCIT NCIT:C3036,NCIT:C3038,NCIT:C3100,NCIT:C3279,NCIT:C3384,NCIT:C35888,NCIT:C35889,NCIT:C39808,NCIT:C40993,NCIT:C50764 has_finding MONDO:0005813 interdigitating dendritic cell sarcoma NCIT NCIT:C9282 one_to_one +MONDO:0005813 interdigitating dendritic cell sarcoma ONCOTREE ONCOTREE:IDCS one_to_one MONDO:0005813 interdigitating dendritic cell sarcoma SCTID SCTID:715664005 one_to_one MONDO:0005814 intestinal cancer DOID DOID:10155 one_to_one MONDO:0005814 intestinal cancer EFO EFO:0007330 one_to_one @@ -31596,6 +31752,7 @@ MONDO:0005835 Lynch syndrome EFO EFO:0007354 one_to_one MONDO:0005835 Lynch syndrome ICD10 ICD10:D48.9 inexact MONDO:0005835 Lynch syndrome MONDO MONDO:0000426,MONDO:0018630 subclass MONDO:0005835 Lynch syndrome MedDRA MedDRA:10051981 one_to_one +MONDO:0005835 Lynch syndrome NCIT NCIT:C8494 one_to_one MONDO:0005835 Lynch syndrome Orphanet Orphanet:144 one_to_one MONDO:0005835 Lynch syndrome SCTID SCTID:716318002 one_to_one MONDO:0005836 male reproductive organ cancer DOID DOID:3856 one_to_one @@ -32701,7 +32858,7 @@ MONDO:0005984 tinea pedis EFO EFO:0007512 one_to_one MONDO:0005984 tinea pedis ICD10 ICD10:B35.3 one_to_one MONDO:0005984 tinea pedis ICD9 ICD9:110.4 one_to_one MONDO:0005984 tinea pedis MESH MESH:D014008 one_to_one -MONDO:0005984 tinea pedis MONDO MONDO:0004678,MONDO:0024505 subclass +MONDO:0005984 tinea pedis MONDO MONDO:0004678,MONDO:0044967 subclass MONDO:0005984 tinea pedis NCBITaxon NCBITaxon:34390,NCBITaxon:5550 realized_in_response_to_stimulus MONDO:0005984 tinea pedis SCTID SCTID:6020002 one_to_one MONDO:0005984 tinea pedis UBERON UBERON:0002387 disease_has_location @@ -32950,12 +33107,12 @@ MONDO:0006011 viral hepatitis DOID DOID:1884 one_to_one MONDO:0006011 viral hepatitis EFO EFO:0004196 one_to_one MONDO:0006011 viral hepatitis ICD10 ICD10:B15.B19 one_to_one MONDO:0006011 viral hepatitis ICD9 ICD9:573.1 one_to_one -MONDO:0006011 viral hepatitis MESH MESH:D006525 one_to_one +MONDO:0006011 viral hepatitis MESH MESH:D006524,MESH:D006525 inexact MONDO:0006011 viral hepatitis MONDO MONDO:0002251,MONDO:0005108,MONDO:0043424 subclass MONDO:0006011 viral hepatitis NCBITaxon NCBITaxon:10239 realized_in_response_to_stimulus MONDO:0006011 viral hepatitis NCIT NCIT:C35124 one_to_one MONDO:0006011 viral hepatitis SCTID SCTID:3738000 one_to_one -MONDO:0006011 viral hepatitis UMLS UMLS:C0042721 one_to_one +MONDO:0006011 viral hepatitis UMLS UMLS:C0019194,UMLS:C0042721 inexact MONDO:0006012 viral pneumonia COHD COHD:261326 one_to_one MONDO:0006012 viral pneumonia DOID DOID:10533 one_to_one MONDO:0006012 viral pneumonia EFO EFO:0007541 one_to_one @@ -33045,7 +33202,7 @@ MONDO:0006026 urinary bladder disease EFO EFO:1000018 one_to_one MONDO:0006026 urinary bladder disease ICD10 ICD10:N32.9 one_to_one MONDO:0006026 urinary bladder disease ICD9 ICD9:596.8,ICD9:596.9 inexact MONDO:0006026 urinary bladder disease MESH MESH:D001745 one_to_one -MONDO:0006026 urinary bladder disease MONDO MONDO:0000001,MONDO:0002118,MONDO:0024505 subclass +MONDO:0006026 urinary bladder disease MONDO MONDO:0000001,MONDO:0002118 subclass MONDO:0006026 urinary bladder disease NCIT NCIT:C2900 one_to_one MONDO:0006026 urinary bladder disease SCTID SCTID:42643001 one_to_one MONDO:0006026 urinary bladder disease UBERON UBERON:0001255 disease_has_location @@ -33282,7 +33439,7 @@ MONDO:0006060 nasopharyngeal squamous cell carcinoma MONDO MONDO:0010150 subclas MONDO:0006061 cervical artery dissection EFO EFO:1000059 one_to_one MONDO:0006061 cervical artery dissection MONDO MONDO:0005385 subclass MONDO:0006062 intestinal disaccharide deficiency and disaccharide malabsorption EFO EFO:1000060 one_to_one -MONDO:0006062 intestinal disaccharide deficiency and disaccharide malabsorption MONDO MONDO:0005066,MONDO:0021199 subclass +MONDO:0006062 intestinal disaccharide deficiency and disaccharide malabsorption MONDO MONDO:0005066 subclass MONDO:0006062 intestinal disaccharide deficiency and disaccharide malabsorption UBERON UBERON:0001007 disease_has_location MONDO:0006065 lactose intolerance adult type EFO EFO:1000063 one_to_one MONDO:0006065 lactose intolerance adult type MONDO MONDO:0009116 subclass @@ -33558,7 +33715,7 @@ MONDO:0006118 breast fibrosis NCIT NCIT:C3660 one_to_one MONDO:0006118 breast fibrosis SCTID SCTID:29070004 one_to_one MONDO:0006118 breast fibrosis UMLS UMLS:C0156318 one_to_one MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma EFO EFO:1000146 one_to_one -MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma MONDO MONDO:0002051,MONDO:0007650 subclass +MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma MONDO MONDO:0000653,MONDO:0007650 subclass MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma NCIT NCIT:C35688 one_to_one MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma UBERON UBERON:0001911 disease_has_location MONDO:0006119 breast mucosa-associated lymphoid tissue lymphoma UMLS UMLS:C1332633 one_to_one @@ -33589,7 +33746,7 @@ MONDO:0006126 cecum neuroendocrine tumor G1 NCIT NCIT:C5501 one_to_one MONDO:0006126 cecum neuroendocrine tumor G1 UBERON UBERON:0001153 disease_has_location MONDO:0006126 cecum neuroendocrine tumor G1 UMLS UMLS:C0854488 one_to_one MONDO:0006128 central nervous system anaplastic large cell lymphoma EFO EFO:1000156 one_to_one -MONDO:0006128 central nervous system anaplastic large cell lymphoma MONDO MONDO:0002571,MONDO:0020325 subclass +MONDO:0006128 central nervous system anaplastic large cell lymphoma MONDO MONDO:0020325,MONDO:0044887 subclass MONDO:0006128 central nervous system anaplastic large cell lymphoma NCIT NCIT:C5322 one_to_one MONDO:0006128 central nervous system anaplastic large cell lymphoma UBERON UBERON:0001017 disease_has_location MONDO:0006128 central nervous system anaplastic large cell lymphoma UMLS UMLS:C1335476 one_to_one @@ -33612,18 +33769,21 @@ MONDO:0006132 cervical adenoid basal carcinoma DOID DOID:6428 one_to_one MONDO:0006132 cervical adenoid basal carcinoma EFO EFO:1000160 one_to_one MONDO:0006132 cervical adenoid basal carcinoma MONDO MONDO:0005131 subclass MONDO:0006132 cervical adenoid basal carcinoma NCIT NCIT:C40213 one_to_one +MONDO:0006132 cervical adenoid basal carcinoma ONCOTREE ONCOTREE:CABC one_to_one MONDO:0006132 cervical adenoid basal carcinoma UMLS UMLS:C1516403 one_to_one MONDO:0006133 cervical adenoid cystic carcinoma DOID DOID:4867 one_to_one MONDO:0006133 cervical adenoid cystic carcinoma EFO EFO:1000161 one_to_one MONDO:0006133 cervical adenoid cystic carcinoma MONDO MONDO:0016286 subclass MONDO:0006133 cervical adenoid cystic carcinoma NCIT NCIT:C26945,NCIT:C34937,NCIT:C50795 has_finding MONDO:0006133 cervical adenoid cystic carcinoma NCIT NCIT:C6346 one_to_one +MONDO:0006133 cervical adenoid cystic carcinoma ONCOTREE ONCOTREE:CACC one_to_one MONDO:0006133 cervical adenoid cystic carcinoma UMLS UMLS:C1332911 one_to_one MONDO:0006134 cervical adenosquamous carcinoma DOID DOID:5636 one_to_one MONDO:0006134 cervical adenosquamous carcinoma EFO EFO:1000162 one_to_one MONDO:0006134 cervical adenosquamous carcinoma MONDO MONDO:0005153,MONDO:0006074,MONDO:0006143 subclass MONDO:0006134 cervical adenosquamous carcinoma NCIT NCIT:C26945,NCIT:C50795 has_finding MONDO:0006134 cervical adenosquamous carcinoma NCIT NCIT:C4519 one_to_one +MONDO:0006134 cervical adenosquamous carcinoma ONCOTREE ONCOTREE:CEAS one_to_one MONDO:0006134 cervical adenosquamous carcinoma SCTID SCTID:254888007 one_to_one MONDO:0006134 cervical adenosquamous carcinoma UMLS UMLS:C0346202 one_to_one MONDO:0006135 cervical clear cell adenocarcinoma DOID DOID:5303 one_to_one @@ -33631,6 +33791,7 @@ MONDO:0006135 cervical clear cell adenocarcinoma EFO EFO:1000163 one_to_one MONDO:0006135 cervical clear cell adenocarcinoma MONDO MONDO:0005004,MONDO:0005153 subclass MONDO:0006135 cervical clear cell adenocarcinoma NCIT NCIT:C26945,NCIT:C50795 has_finding MONDO:0006135 cervical clear cell adenocarcinoma NCIT NCIT:C6344 one_to_one +MONDO:0006135 cervical clear cell adenocarcinoma ONCOTREE ONCOTREE:CECC one_to_one MONDO:0006135 cervical clear cell adenocarcinoma UBERON UBERON:0000002 disease_has_location MONDO:0006135 cervical clear cell adenocarcinoma UMLS UMLS:C1332912 one_to_one MONDO:0006137 cervical intraepithelial neoplasia grade 2/3 EFO EFO:1000166 one_to_one @@ -33656,6 +33817,7 @@ MONDO:0006141 cervical villoglandular adenocarcinoma DOID DOID:8338 one_to_one MONDO:0006141 cervical villoglandular adenocarcinoma EFO EFO:1000170 one_to_one MONDO:0006141 cervical villoglandular adenocarcinoma MONDO MONDO:0002742,MONDO:0003204 subclass MONDO:0006141 cervical villoglandular adenocarcinoma NCIT NCIT:C40208 one_to_one +MONDO:0006141 cervical villoglandular adenocarcinoma ONCOTREE ONCOTREE:VGCE one_to_one MONDO:0006141 cervical villoglandular adenocarcinoma UBERON UBERON:0000002 disease_has_location MONDO:0006141 cervical villoglandular adenocarcinoma UMLS UMLS:C4289808 one_to_one MONDO:0006142 cervical small cell carcinoma DOID DOID:6740 one_to_one @@ -33708,7 +33870,6 @@ MONDO:0006150 colon Burkitt lymphoma EFO EFO:1000182 one_to_one MONDO:0006150 colon Burkitt lymphoma MONDO MONDO:0002035,MONDO:0007243,MONDO:0017814,MONDO:0021138 subclass MONDO:0006150 colon Burkitt lymphoma NCIT NCIT:C34333 has_finding MONDO:0006150 colon Burkitt lymphoma NCIT NCIT:C27465 one_to_one -MONDO:0006150 colon Burkitt lymphoma OMIM OMIM:113970 subclass MONDO:0006150 colon Burkitt lymphoma UBERON UBERON:0001155 disease_has_location MONDO:0006150 colon Burkitt lymphoma UMLS UMLS:C1333083 one_to_one MONDO:0006151 colon dysplasia EFO EFO:1000183 one_to_one @@ -33929,6 +34090,7 @@ MONDO:0006192 endometrial endometrioid adenocarcinoma EFO EFO:1000233 one_to_one MONDO:0006192 endometrial endometrioid adenocarcinoma MONDO MONDO:0005026 subclass MONDO:0006192 endometrial endometrioid adenocarcinoma NCIT NCIT:C3283,NCIT:C3836 has_finding MONDO:0006192 endometrial endometrioid adenocarcinoma NCIT NCIT:C6287 one_to_one +MONDO:0006192 endometrial endometrioid adenocarcinoma ONCOTREE ONCOTREE:UEC one_to_one MONDO:0006192 endometrial endometrioid adenocarcinoma UMLS UMLS:C1336905 one_to_one MONDO:0006193 endometrial hyperplasia without atypia EFO EFO:1000234 one_to_one MONDO:0006193 endometrial hyperplasia without atypia ICD9 ICD9:621.34 one_to_one @@ -34029,7 +34191,7 @@ MONDO:0006212 flat urothelial hyperplasia EFO EFO:1000259 one_to_one MONDO:0006212 flat urothelial hyperplasia MONDO MONDO:0024483 subclass MONDO:0006212 flat urothelial hyperplasia NCIT NCIT:C27878 one_to_one MONDO:0006213 floor of mouth mucoepidermoid carcinoma EFO EFO:1000260 one_to_one -MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO MONDO:0003036,MONDO:0005515,MONDO:0021343 subclass +MONDO:0006213 floor of mouth mucoepidermoid carcinoma MONDO MONDO:0003036,MONDO:0021343,MONDO:0044964 subclass MONDO:0006213 floor of mouth mucoepidermoid carcinoma NCIT NCIT:C8178 one_to_one MONDO:0006213 floor of mouth mucoepidermoid carcinoma UBERON UBERON:0003679 disease_has_location MONDO:0006213 floor of mouth mucoepidermoid carcinoma UMLS UMLS:C0280310 one_to_one @@ -34107,7 +34269,7 @@ MONDO:0006225 gastric mantle cell lymphoma NCIT NCIT:C27440 one_to_one MONDO:0006225 gastric mantle cell lymphoma UBERON UBERON:0000945 disease_has_location MONDO:0006225 gastric mantle cell lymphoma UMLS UMLS:C1333780 one_to_one MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma EFO EFO:1000274 one_to_one -MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma MONDO MONDO:0000621,MONDO:0007650,MONDO:0042493 subclass +MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma MONDO MONDO:0007650,MONDO:0042493 subclass MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma NCIT NCIT:C5266 one_to_one MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma UBERON UBERON:0000945 disease_has_location MONDO:0006226 gastric mucosa-associated lymphoid tissue lymphoma UMLS UMLS:C1333782 one_to_one @@ -34217,7 +34379,7 @@ MONDO:0006246 high grade surface osteosarcoma ONCOTREE ONCOTREE:HGSOS one_to_one MONDO:0006246 high grade surface osteosarcoma UMLS UMLS:C1266165 one_to_one MONDO:0006247 histiocytic and dendritic cell neoplasm DOID DOID:5621 one_to_one MONDO:0006247 histiocytic and dendritic cell neoplasm EFO EFO:1000297 one_to_one -MONDO:0006247 histiocytic and dendritic cell neoplasm MONDO MONDO:0015757 subclass +MONDO:0006247 histiocytic and dendritic cell neoplasm MONDO MONDO:0015757,MONDO:0044881 subclass MONDO:0006247 histiocytic and dendritic cell neoplasm NCIT NCIT:C40995 has_finding MONDO:0006247 histiocytic and dendritic cell neoplasm NCIT NCIT:C9294 one_to_one MONDO:0006247 histiocytic and dendritic cell neoplasm Orphanet Orphanet:98287 one_to_one @@ -34232,6 +34394,7 @@ MONDO:0006248 hydatidiform mole MONDO MONDO:0016784,MONDO:0021218 subclass MONDO:0006248 hydatidiform mole MedDRA MedDRA:10020481 one_to_one MONDO:0006248 hydatidiform mole NCIT NCIT:C3110 one_to_one MONDO:0006248 hydatidiform mole OMIMPS OMIMPS:231090 one_to_one +MONDO:0006248 hydatidiform mole ONCOTREE ONCOTREE:MP one_to_one MONDO:0006248 hydatidiform mole Orphanet Orphanet:99927 one_to_one MONDO:0006248 hydatidiform mole SCTID SCTID:44782008 one_to_one MONDO:0006248 hydatidiform mole UMLS UMLS:C0020217 one_to_one @@ -34290,6 +34453,7 @@ MONDO:0006260 kidney medullary carcinoma MONDO MONDO:0004993,MONDO:0005086 subcl MONDO:0006260 kidney medullary carcinoma MedDRA MedDRA:10064886 one_to_one MONDO:0006260 kidney medullary carcinoma NCIT NCIT:C34615,NCIT:C36104,NCIT:C36132 has_finding MONDO:0006260 kidney medullary carcinoma NCIT NCIT:C7572 one_to_one +MONDO:0006260 kidney medullary carcinoma ONCOTREE ONCOTREE:MRC one_to_one MONDO:0006260 kidney medullary carcinoma Orphanet Orphanet:319319 one_to_one MONDO:0006260 kidney medullary carcinoma UBERON UBERON:0000362 disease_has_location MONDO:0006262 lacrimal gland adenoid cystic carcinoma DOID DOID:4870 one_to_one @@ -34389,9 +34553,11 @@ MONDO:0006277 lung lymphangioleiomyomatosis MONDO MONDO:0005138,MONDO:0011705,MO 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 +MONDO:0006277 lung lymphangioleiomyomatosis ONCOTREE ONCOTREE:LAM one_to_one MONDO:0006277 lung lymphangioleiomyomatosis Orphanet Orphanet:538 one_to_one MONDO:0006277 lung lymphangioleiomyomatosis SCTID SCTID:277844007 one_to_one MONDO:0006277 lung lymphangioleiomyomatosis UBERON UBERON:0002048 disease_has_location +MONDO:0006277 lung lymphangioleiomyomatosis http http://identifiers.org/hgnc/12362,http://identifiers.org/hgnc/12363 disease_has_basis_in_dysfunction_of MONDO:0006278 lung papilloma EFO EFO:1000335 one_to_one MONDO:0006278 lung papilloma MONDO MONDO:0002363,MONDO:0002732 subclass MONDO:0006278 lung papilloma NCIT NCIT:C92486 has_finding @@ -34430,7 +34596,7 @@ MONDO:0006282 lymphangiosarcoma EFO EFO:1000339 one_to_one MONDO:0006282 lymphangiosarcoma ICD9 ICD9:171.9 inexact MONDO:0006282 lymphangiosarcoma ICDO ICDO:9170/3 one_to_one MONDO:0006282 lymphangiosarcoma MESH MESH:D008204 one_to_one -MONDO:0006282 lymphangiosarcoma MONDO MONDO:0004993,MONDO:0005089,MONDO:0021197 subclass +MONDO:0006282 lymphangiosarcoma MONDO MONDO:0004993,MONDO:0005089 subclass MONDO:0006282 lymphangiosarcoma NCIT NCIT:C3205 one_to_one MONDO:0006282 lymphangiosarcoma SCTID SCTID:403986008 one_to_one MONDO:0006282 lymphangiosarcoma UMLS UMLS:C0024224 one_to_one @@ -34497,6 +34663,7 @@ MONDO:0006292 malignant mesothelioma (disease) Orphanet Orphanet:50251 one_to_on MONDO:0006292 malignant mesothelioma (disease) PATO PATO:0002097 has_modifier MONDO:0006292 malignant mesothelioma (disease) SCTID SCTID:109378008 one_to_one MONDO:0006292 malignant mesothelioma (disease) UMLS UMLS:C0278752,UMLS:C0345967,UMLS:C1332338 inexact +MONDO:0006292 malignant mesothelioma (disease) http http://identifiers.org/hgnc/12796,http://identifiers.org/hgnc/989 disease_has_basis_in_dysfunction_of MONDO:0006294 pleural cancer COHD COHD:4180795 one_to_one MONDO:0006294 pleural cancer DOID DOID:5158 one_to_one MONDO:0006294 pleural cancer EFO EFO:1000362 one_to_one @@ -34588,6 +34755,7 @@ MONDO:0006312 myofibroma MONDO MONDO:0000385,MONDO:0000654 excluded_subClassOf MONDO:0006312 myofibroma MONDO MONDO:0001572,MONDO:0003342 subclass MONDO:0006312 myofibroma NCIT NCIT:C35907,NCIT:C36000,NCIT:C36184,NCIT:C41039 has_finding MONDO:0006312 myofibroma NCIT NCIT:C7052 one_to_one +MONDO:0006312 myofibroma ONCOTREE ONCOTREE:MF one_to_one MONDO:0006312 myofibroma UMLS UMLS:C1266121 one_to_one MONDO:0006313 Nabothian cyst EFO EFO:1000390 one_to_one MONDO:0006313 Nabothian cyst MONDO MONDO:0021230 subclass @@ -34606,7 +34774,7 @@ MONDO:0006314 nasal cavity polyp UBERON UBERON:0001707 disease_has_location MONDO:0006314 nasal cavity polyp UMLS UMLS:C0027430 one_to_one MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm CL CL:0000945 disease_has_location MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm EFO EFO:1000392 one_to_one -MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm MONDO MONDO:0004805,MONDO:0005070 subclass +MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm MONDO MONDO:0002334,MONDO:0004805 subclass MONDO:0006315 neoplastic medium-sized B-lymphocyte with basophilic cytoplasm NCIT NCIT:C37005 one_to_one MONDO:0006316 neuroblastic tumor EFO EFO:1000393 one_to_one MONDO:0006316 neuroblastic tumor MONDO MONDO:0005462 subclass @@ -34671,6 +34839,7 @@ MONDO:0006329 olfactory neuroblastoma ICDO ICDO:9522/3,ICDO:9523/3 inexact MONDO:0006329 olfactory neuroblastoma MONDO MONDO:0002433,MONDO:0002722,MONDO:0002749,MONDO:0003142,MONDO:0017371 subclass MONDO:0006329 olfactory neuroblastoma NCIT NCIT:C26766,NCIT:C35941,NCIT:C35942,NCIT:C40560,NCIT:C41458 has_finding MONDO:0006329 olfactory neuroblastoma NCIT NCIT:C3789 one_to_one +MONDO:0006329 olfactory neuroblastoma ONCOTREE ONCOTREE:ONBL one_to_one MONDO:0006330 ossifying fibromyxoid tumor DOID DOID:2685 one_to_one MONDO:0006330 ossifying fibromyxoid tumor EFO EFO:1000408 one_to_one MONDO:0006330 ossifying fibromyxoid tumor ICDO ICDO:8842/0 one_to_one @@ -34726,13 +34895,14 @@ MONDO:0006344 ovarian yolk sac tumor DOID DOID:5350 one_to_one MONDO:0006344 ovarian yolk sac tumor EFO EFO:1000437 one_to_one MONDO:0006344 ovarian yolk sac tumor MONDO MONDO:0005744,MONDO:0016096 subclass MONDO:0006344 ovarian yolk sac tumor NCIT NCIT:C8107 one_to_one +MONDO:0006344 ovarian yolk sac tumor ONCOTREE ONCOTREE:OYST one_to_one MONDO:0006344 ovarian yolk sac tumor SCTID SCTID:254876005 one_to_one MONDO:0006344 ovarian yolk sac tumor UBERON UBERON:0000992 disease_has_location MONDO:0006344 ovarian yolk sac tumor UMLS UMLS:C0346188 one_to_one MONDO:0006345 palmar fibromatosis EFO EFO:0004229,EFO:1000438 inexact MONDO:0006345 palmar fibromatosis HP HP:0005679 one_to_one MONDO:0006345 palmar fibromatosis MESH MESH:D004387 one_to_one -MONDO:0006345 palmar fibromatosis MONDO MONDO:0005031,MONDO:0005307,MONDO:0016037,MONDO:0024505 subclass +MONDO:0006345 palmar fibromatosis MONDO MONDO:0005031,MONDO:0005307,MONDO:0016037,MONDO:0044967 subclass MONDO:0006345 palmar fibromatosis NCIT NCIT:C3469 one_to_one MONDO:0006345 palmar fibromatosis SCTID SCTID:203045001 one_to_one MONDO:0006345 palmar fibromatosis UBERON UBERON:0008878 disease_has_location @@ -34834,6 +35004,7 @@ MONDO:0006362 peritoneal mesothelioma (disease) HP HP:0100003 one_to_one MONDO:0006362 peritoneal mesothelioma (disease) ICD10 ICD10:C45.1 inexact MONDO:0006362 peritoneal mesothelioma (disease) MONDO MONDO:0005065,MONDO:0006901 subclass MONDO:0006362 peritoneal mesothelioma (disease) NCIT NCIT:C7633 one_to_one +MONDO:0006362 peritoneal mesothelioma (disease) ONCOTREE ONCOTREE:PEMESO one_to_one MONDO:0006362 peritoneal mesothelioma (disease) SCTID SCTID:109853004 one_to_one MONDO:0006362 peritoneal mesothelioma (disease) UBERON UBERON:0002358 disease_has_location MONDO:0006363 peritoneal multicystic mesothelioma EFO EFO:1000468 one_to_one @@ -34858,7 +35029,7 @@ MONDO:0006366 Peutz-Jeghers polyp of the stomach MONDO MONDO:0008280 subclass MONDO:0006366 Peutz-Jeghers polyp of the stomach NCIT NCIT:C36205 one_to_one MONDO:0006366 Peutz-Jeghers polyp of the stomach UMLS UMLS:C1335398 one_to_one MONDO:0006367 pharyngeal adenoid cystic carcinoma EFO EFO:1000472 one_to_one -MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO MONDO:0004971,MONDO:0021345 subclass +MONDO:0006367 pharyngeal adenoid cystic carcinoma MONDO MONDO:0002038,MONDO:0004971,MONDO:0005517,MONDO:0021345 subclass MONDO:0006367 pharyngeal adenoid cystic carcinoma NCIT NCIT:C5818 one_to_one MONDO:0006367 pharyngeal adenoid cystic carcinoma UMLS UMLS:C1335399 one_to_one MONDO:0006368 phosphaturic mesenchymal tumor EFO EFO:1000473 one_to_one @@ -35112,7 +35283,6 @@ MONDO:0006416 small intestinal Burkitt lymphoma EFO EFO:1000533 one_to_one MONDO:0006416 small intestinal Burkitt lymphoma MONDO MONDO:0001852,MONDO:0007243,MONDO:0017814,MONDO:0021138 subclass MONDO:0006416 small intestinal Burkitt lymphoma NCIT NCIT:C34333 has_finding MONDO:0006416 small intestinal Burkitt lymphoma NCIT NCIT:C27409 one_to_one -MONDO:0006416 small intestinal Burkitt lymphoma OMIM OMIM:113970 subclass MONDO:0006416 small intestinal Burkitt lymphoma UBERON UBERON:0002108 disease_has_location MONDO:0006416 small intestinal Burkitt lymphoma UMLS UMLS:C1335991 one_to_one MONDO:0006417 small intestinal diffuse large B-cell lymphoma EFO EFO:1000534 one_to_one @@ -35132,7 +35302,7 @@ MONDO:0006419 small intestinal intraepithelial neoplasia NCIT NCIT:C27462 one_to MONDO:0006419 small intestinal intraepithelial neoplasia UBERON UBERON:0002108 disease_has_location MONDO:0006419 small intestinal intraepithelial neoplasia UMLS UMLS:C1335999 one_to_one MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma EFO EFO:1000537 one_to_one -MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma MONDO MONDO:0000621,MONDO:0001852,MONDO:0007650 subclass +MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma MONDO MONDO:0001852,MONDO:0007650 subclass MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma NCIT NCIT:C5635 one_to_one MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma UBERON UBERON:0002108 disease_has_location MONDO:0006420 small intestinal mucosa-associated lymphoid tissue lymphoma UMLS UMLS:C1336004 one_to_one @@ -35459,6 +35629,7 @@ MONDO:0006486 uveal melanoma MESH MESH:C536494 one_to_one MONDO:0006486 uveal melanoma MONDO MONDO:0002659,MONDO:0005105,MONDO:0006325 subclass MONDO:0006486 uveal melanoma MedDRA MedDRA:10061252 one_to_one MONDO:0006486 uveal melanoma NCIT NCIT:C7712 one_to_one +MONDO:0006486 uveal melanoma ONCOTREE ONCOTREE:UM one_to_one MONDO:0006486 uveal melanoma Orphanet Orphanet:39044 one_to_one MONDO:0006486 uveal melanoma UBERON UBERON:0001768 disease_has_location MONDO:0006486 uveal melanoma UMLS UMLS:C0220633 one_to_one @@ -36003,6 +36174,7 @@ MONDO:0006566 keratosis DOID DOID:161 one_to_one MONDO:0006566 keratosis EFO EFO:1000720 one_to_one MONDO:0006566 keratosis MESH MESH:D007642 one_to_one MONDO:0006566 keratosis MONDO MONDO:0005093 subclass +MONDO:0006566 keratosis NCIT NCIT:C34745 one_to_one MONDO:0006566 keratosis SCTID SCTID:254666005 one_to_one MONDO:0006566 keratosis UMLS UMLS:C0022593 one_to_one MONDO:0006567 kernicterus due to isoimmunization DOID DOID:12043 one_to_one @@ -36063,7 +36235,8 @@ MONDO:0006574 lipomatosis EFO EFO:1000728 one_to_one MONDO:0006574 lipomatosis ICD10 ICD10:E88.2 inexact MONDO:0006574 lipomatosis ICD9 ICD9:272.8 inexact MONDO:0006574 lipomatosis MESH MESH:D008068 one_to_one -MONDO:0006574 lipomatosis MONDO MONDO:0005093 subclass +MONDO:0006574 lipomatosis MONDO MONDO:0005093 excluded_subClassOf +MONDO:0006574 lipomatosis MONDO MONDO:0044983 subclass MONDO:0006574 lipomatosis NCIT NCIT:C36180 has_finding MONDO:0006574 lipomatosis NCIT NCIT:C3193 one_to_one MONDO:0006574 lipomatosis SCTID SCTID:402693001 one_to_one @@ -36175,6 +36348,7 @@ MONDO:0006590 palmoplantar keratosis GARD GARD:0008167 one_to_one MONDO:0006590 palmoplantar keratosis ICD10 ICD10:L85.2 one_to_one MONDO:0006590 palmoplantar keratosis ICD9 ICD9:757.39 inexact MONDO:0006590 palmoplantar keratosis MONDO MONDO:0006566 subclass +MONDO:0006590 palmoplantar keratosis NCIT NCIT:C34748 one_to_one MONDO:0006590 palmoplantar keratosis SCTID SCTID:706885006 one_to_one MONDO:0006591 panniculitis COHD COHD:432719 one_to_one MONDO:0006591 panniculitis DOID DOID:1526 one_to_one @@ -36257,7 +36431,7 @@ MONDO:0006599 physical urticaria EFO EFO:1000754 one_to_one MONDO:0006599 physical urticaria MONDO MONDO:0005492 subclass MONDO:0006599 physical urticaria SCTID SCTID:402601007 one_to_one MONDO:0006600 pigmentation disease GO GO:0043473 disease_disrupts -MONDO:0006600 pigmentation disease MONDO MONDO:0000001,MONDO:0021195 subclass +MONDO:0006600 pigmentation disease MONDO MONDO:0000001 subclass MONDO:0006600 pigmentation disease SCTID SCTID:414032001 one_to_one MONDO:0006601 pityriasis rosea COHD COHD:141371 one_to_one MONDO:0006601 pityriasis rosea DOID DOID:8892 one_to_one @@ -36485,7 +36659,7 @@ MONDO:0006634 pituitary gland acidophil adenoma EFO EFO:1000791 one_to_one MONDO:0006634 pituitary gland acidophil adenoma ICDO ICDO:8280/0 one_to_one MONDO:0006634 pituitary gland acidophil adenoma MESH MESH:D000239 one_to_one MONDO:0006634 pituitary gland acidophil adenoma MONDO MONDO:0004805 excluded_subClassOf -MONDO:0006634 pituitary gland acidophil adenoma MONDO MONDO:0006373,MONDO:0015513,MONDO:0015549,MONDO:0015984,MONDO:0019117 subclass +MONDO:0006634 pituitary gland acidophil adenoma MONDO MONDO:0003641,MONDO:0006373,MONDO:0015513,MONDO:0015549,MONDO:0015984,MONDO:0019117 subclass MONDO:0006634 pituitary gland acidophil adenoma NCIT NCIT:C6780 one_to_one MONDO:0006634 pituitary gland acidophil adenoma UMLS UMLS:C0001433 one_to_one MONDO:0006635 Acinetobacter infectious disease EFO EFO:1000792 one_to_one @@ -36575,6 +36749,7 @@ 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 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 @@ -36834,7 +37009,7 @@ MONDO:0006673 pituitary gland basophil adenoma DOID DOID:4542 one_to_one MONDO:0006673 pituitary gland basophil adenoma EFO EFO:1000834 one_to_one MONDO:0006673 pituitary gland basophil adenoma ICDO ICDO:8300/0 one_to_one MONDO:0006673 pituitary gland basophil adenoma MESH MESH:D000237 one_to_one -MONDO:0006673 pituitary gland basophil adenoma MONDO MONDO:0004805,MONDO:0006373,MONDO:0020008 subclass +MONDO:0006673 pituitary gland basophil adenoma MONDO MONDO:0003641,MONDO:0004805,MONDO:0006373,MONDO:0020008 subclass MONDO:0006673 pituitary gland basophil adenoma NCIT NCIT:C2856 one_to_one MONDO:0006673 pituitary gland basophil adenoma UMLS UMLS:C0001431 one_to_one MONDO:0006674 benign fibrous mesothelioma DOID DOID:2653 one_to_one @@ -36923,7 +37098,8 @@ MONDO:0006684 brain edema MedDRA MedDRA:10006121 one_to_one MONDO:0006684 brain edema SCTID SCTID:2032001 one_to_one MONDO:0006685 brain hypoxia-ischemia EFO EFO:1000846 one_to_one MONDO:0006685 brain hypoxia-ischemia MESH MESH:D020925 one_to_one -MONDO:0006685 brain hypoxia-ischemia MONDO MONDO:0100035 subclass +MONDO:0006685 brain hypoxia-ischemia MONDO MONDO:0100035 disease_has_feature +MONDO:0006685 brain hypoxia-ischemia MONDO MONDO:0005560 subclass MONDO:0006686 brain stem infarction DOID DOID:3523 one_to_one MONDO:0006686 brain stem infarction EFO EFO:1000847 one_to_one MONDO:0006686 brain stem infarction ICD9 ICD9:434.91 inexact @@ -36968,6 +37144,7 @@ MONDO:0006689 carcinoid syndrome NCIT NCIT:C3215 one_to_one MONDO:0006689 carcinoid syndrome OMIM OMIM:114900 one_to_one MONDO:0006689 carcinoid syndrome Orphanet Orphanet:100093 one_to_one MONDO:0006689 carcinoid syndrome SCTID SCTID:35868009 one_to_one +MONDO:0006689 carcinoid syndrome http http://identifiers.org/hgnc/10683 disease_has_basis_in_dysfunction_of MONDO:0006690 carotid artery thrombosis DOID DOID:3410 one_to_one MONDO:0006690 carotid artery thrombosis EFO EFO:1000853 one_to_one MONDO:0006690 carotid artery thrombosis ICD9 ICD9:433.10 inexact @@ -37285,7 +37462,10 @@ MONDO:0006738 eccrine acrospiroma DOID DOID:5442 one_to_one MONDO:0006738 eccrine acrospiroma EFO EFO:1000912 one_to_one MONDO:0006738 eccrine acrospiroma GARD GARD:0005726 one_to_one MONDO:0006738 eccrine acrospiroma MESH MESH:D018250 one_to_one -MONDO:0006738 eccrine acrospiroma MONDO MONDO:0005506 subclass +MONDO:0006738 eccrine acrospiroma MONDO MONDO:0005506 excluded_subClassOf +MONDO:0006738 eccrine acrospiroma MONDO MONDO:0021489 subclass +MONDO:0006738 eccrine acrospiroma NCIT NCIT:C27273 one_to_one +MONDO:0006738 eccrine acrospiroma ONCOTREE ONCOTREE:PORO one_to_one MONDO:0006738 eccrine acrospiroma SCTID SCTID:400099008 one_to_one MONDO:0006739 Ehrlich tumor carcinoma DOID DOID:5050 one_to_one MONDO:0006739 Ehrlich tumor carcinoma EFO EFO:1000913 one_to_one @@ -37426,7 +37606,7 @@ MONDO:0006759 femoral neuropathy EFO EFO:1000936 one_to_one MONDO:0006759 femoral neuropathy ICD10 ICD10:G57.2,ICD10:G57.20 inexact MONDO:0006759 femoral neuropathy ICD9 ICD9:355.2 one_to_one MONDO:0006759 femoral neuropathy MESH MESH:D020428 one_to_one -MONDO:0006759 femoral neuropathy MONDO MONDO:0001397,MONDO:0024334,MONDO:0024505 subclass +MONDO:0006759 femoral neuropathy MONDO MONDO:0001397,MONDO:0024334,MONDO:0044967 subclass MONDO:0006759 femoral neuropathy NCIT NCIT:C27595 one_to_one MONDO:0006759 femoral neuropathy SCTID SCTID:25690000 one_to_one MONDO:0006759 femoral neuropathy UBERON UBERON:0001267 disease_has_location @@ -37731,7 +37911,7 @@ MONDO:0006798 hypervitaminosis A GO GO:0006776 disease_disrupts MONDO:0006798 hypervitaminosis A ICD10 ICD10:E67.0 one_to_one MONDO:0006798 hypervitaminosis A ICD9 ICD9:278.2 one_to_one MONDO:0006798 hypervitaminosis A MESH MESH:D006986 one_to_one -MONDO:0006798 hypervitaminosis A MONDO MONDO:0003916,MONDO:0021195 subclass +MONDO:0006798 hypervitaminosis A MONDO MONDO:0003916 subclass MONDO:0006798 hypervitaminosis A MedDRA MedDRA:10020916 one_to_one MONDO:0006798 hypervitaminosis A SCTID SCTID:64559002 one_to_one MONDO:0006798 hypervitaminosis A UMLS UMLS:C0020579 one_to_one @@ -38169,6 +38349,7 @@ MONDO:0006853 mesenchymal chondrosarcoma MONDO MONDO:0006974,MONDO:0008977 subcl MONDO:0006853 mesenchymal chondrosarcoma MedDRA MedDRA:10027389 one_to_one MONDO:0006853 mesenchymal chondrosarcoma NCIT NCIT:C3303,NCIT:C3399,NCIT:C35907,NCIT:C36104,NCIT:C53488 has_finding MONDO:0006853 mesenchymal chondrosarcoma NCIT NCIT:C3737 one_to_one +MONDO:0006853 mesenchymal chondrosarcoma ONCOTREE ONCOTREE:MCHS one_to_one MONDO:0006853 mesenchymal chondrosarcoma UMLS UMLS:C0206637 one_to_one MONDO:0006854 mesenchymoma DOID DOID:2668 one_to_one MONDO:0006854 mesenchymoma EFO EFO:1001042 one_to_one @@ -38199,6 +38380,7 @@ MONDO:0006858 mouth disease EFO EFO:1001047 one_to_one MONDO:0006858 mouth disease ICD9 ICD9:528.9 inexact MONDO:0006858 mouth disease MESH MESH:D009059 one_to_one MONDO:0006858 mouth disease MONDO MONDO:0000001,MONDO:0005042,MONDO:0021199 subclass +MONDO:0006858 mouth disease NCIT NCIT:C3240 one_to_one MONDO:0006858 mouth disease SCTID SCTID:118938008 one_to_one MONDO:0006858 mouth disease UBERON UBERON:0000165 disease_has_location MONDO:0006858 mouth disease UMLS UMLS:C0026636 one_to_one @@ -38471,7 +38653,7 @@ MONDO:0006893 Pasteurella hemorrhagic septicemia SCTID SCTID:198462004 one_to_on MONDO:0006894 patellofemoral pain syndrome DOID DOID:14284 one_to_one MONDO:0006894 patellofemoral pain syndrome EFO EFO:1001092 one_to_one MONDO:0006894 patellofemoral pain syndrome MESH MESH:D046788 one_to_one -MONDO:0006894 patellofemoral pain syndrome MONDO MONDO:0006816,MONDO:0024505 subclass +MONDO:0006894 patellofemoral pain syndrome MONDO MONDO:0006816,MONDO:0044967 subclass MONDO:0006894 patellofemoral pain syndrome MedDRA MedDRA:10049143 one_to_one MONDO:0006894 patellofemoral pain syndrome SCTID SCTID:430725003 one_to_one MONDO:0006894 patellofemoral pain syndrome UBERON UBERON:0011166 disease_has_location @@ -38525,7 +38707,7 @@ MONDO:0006900 perinephritis UBERON UBERON:0005406 disease_has_inflammation_site MONDO:0006900 perinephritis UMLS UMLS:C0031065 one_to_one MONDO:0006901 peritoneal neoplasm EFO EFO:1001100 one_to_one MONDO:0006901 peritoneal neoplasm MESH MESH:D010534 one_to_one -MONDO:0006901 peritoneal neoplasm MONDO MONDO:0005070,MONDO:0021199,MONDO:0024505 subclass +MONDO:0006901 peritoneal neoplasm MONDO MONDO:0005070,MONDO:0044965 subclass MONDO:0006901 peritoneal neoplasm MedDRA MedDRA:10061344 one_to_one MONDO:0006901 peritoneal neoplasm NCIT NCIT:C3322 one_to_one MONDO:0006901 peritoneal neoplasm SCTID SCTID:126865007 one_to_one @@ -39284,7 +39466,7 @@ MONDO:0007005 ulcerative proctosigmoiditis SCTID SCTID:52506002 one_to_one MONDO:0007006 ulnar neuropathy DOID DOID:4613 one_to_one MONDO:0007006 ulnar neuropathy EFO EFO:1001224 one_to_one MONDO:0007006 ulnar neuropathy MESH MESH:D020424 one_to_one -MONDO:0007006 ulnar neuropathy MONDO MONDO:0001397,MONDO:0006683,MONDO:0024505 subclass +MONDO:0007006 ulnar neuropathy MONDO MONDO:0001397,MONDO:0006683,MONDO:0044967 subclass MONDO:0007006 ulnar neuropathy SCTID SCTID:359837005 one_to_one MONDO:0007006 ulnar neuropathy UBERON UBERON:0001494 disease_has_location MONDO:0007006 ulnar neuropathy UMLS UMLS:C0154743 one_to_one @@ -39416,6 +39598,7 @@ MONDO:0007023 Yersinia infectious disease EFO EFO:1001245 one_to_one MONDO:0007023 Yersinia infectious disease MESH MESH:D015009 one_to_one MONDO:0007023 Yersinia infectious disease MONDO MONDO:0005113,MONDO:0005550 subclass MONDO:0007023 Yersinia infectious disease NCBITaxon NCBITaxon:629 realized_in_response_to_stimulus +MONDO:0007023 Yersinia infectious disease NCIT NCIT:C128337 one_to_one MONDO:0007023 Yersinia infectious disease SCTID SCTID:83436008 one_to_one MONDO:0007024 Yersinia pseudotuberculosis infectious disease EFO EFO:1001246 one_to_one MONDO:0007024 Yersinia pseudotuberculosis infectious disease MESH MESH:D015012 one_to_one @@ -39476,6 +39659,7 @@ MONDO:0007032 prune belly syndome OMIM OMIM:100100 one_to_one MONDO:0007032 prune belly syndome Orphanet Orphanet:2970 one_to_one MONDO:0007032 prune belly syndome SCTID SCTID:5187006 one_to_one MONDO:0007032 prune belly syndome UMLS UMLS:C0033770 one_to_one +MONDO:0007032 prune belly syndome http http://identifiers.org/hgnc/1952 disease_has_basis_in_dysfunction_of MONDO:0007033 abducens nerve palsy COHD COHD:381572 one_to_one MONDO:0007033 abducens nerve palsy DOID DOID:10865 one_to_one MONDO:0007033 abducens nerve palsy GARD GARD:0009482 one_to_one @@ -39527,6 +39711,7 @@ MONDO:0007037 achondroplasia OMIM OMIM:100800 one_to_one MONDO:0007037 achondroplasia Orphanet Orphanet:15 one_to_one MONDO:0007037 achondroplasia SCTID SCTID:86268005 one_to_one MONDO:0007037 achondroplasia UMLS UMLS:C0001080 one_to_one +MONDO:0007037 achondroplasia http http://identifiers.org/hgnc/3690 disease_has_basis_in_dysfunction_of MONDO:0007038 Achoo syndrome GARD GARD:0010036 one_to_one MONDO:0007038 Achoo syndrome MESH MESH:C535300 one_to_one MONDO:0007038 Achoo syndrome MONDO MONDO:0003847 subclass @@ -39544,6 +39729,7 @@ MONDO:0007039 neurofibromatosis type 2 OMIM OMIM:101000 one_to_one MONDO:0007039 neurofibromatosis type 2 Orphanet Orphanet:637 one_to_one MONDO:0007039 neurofibromatosis type 2 SCTID SCTID:92503002 one_to_one MONDO:0007039 neurofibromatosis type 2 UMLS UMLS:C0027832 one_to_one +MONDO:0007039 neurofibromatosis type 2 http http://identifiers.org/hgnc/7773 disease_has_basis_in_dysfunction_of MONDO:0007040 Sakati-Nyhan syndrome DOID DOID:0060359 one_to_one MONDO:0007040 Sakati-Nyhan syndrome GARD GARD:0000115 one_to_one MONDO:0007040 Sakati-Nyhan syndrome ICD10 ICD10:Q87.0 inexact @@ -39563,6 +39749,7 @@ MONDO:0007041 apert syndrome OMIM OMIM:101200 one_to_one MONDO:0007041 apert syndrome Orphanet Orphanet:87 one_to_one MONDO:0007041 apert syndrome SCTID SCTID:205258009 one_to_one MONDO:0007041 apert syndrome UMLS UMLS:C0001193 one_to_one +MONDO:0007041 apert syndrome http http://identifiers.org/hgnc/3689 disease_has_basis_in_dysfunction_of 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 @@ -39573,6 +39760,7 @@ MONDO:0007042 Saethre-Chotzen syndrome OMIM OMIM:101400 one_to_one MONDO:0007042 Saethre-Chotzen syndrome Orphanet Orphanet:794 one_to_one MONDO:0007042 Saethre-Chotzen syndrome SCTID SCTID:83015004 one_to_one MONDO:0007042 Saethre-Chotzen syndrome UMLS UMLS:C0175699 one_to_one +MONDO:0007042 Saethre-Chotzen syndrome http http://identifiers.org/hgnc/12428,http://identifiers.org/hgnc/3689 disease_has_basis_in_dysfunction_of 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 @@ -39582,10 +39770,12 @@ MONDO:0007043 Pfeiffer syndrome OMIM OMIM:101600 one_to_one MONDO:0007043 Pfeiffer syndrome Orphanet Orphanet:710 one_to_one MONDO:0007043 Pfeiffer syndrome SCTID SCTID:70410008 one_to_one MONDO:0007043 Pfeiffer syndrome UMLS UMLS:C0220658 one_to_one +MONDO:0007043 Pfeiffer syndrome http http://identifiers.org/hgnc/3688,http://identifiers.org/hgnc/3689 disease_has_basis_in_dysfunction_of MONDO:0007044 acrodysostosis 1 with or without hormone resistance MONDO MONDO:0017240,MONDO:0019797 subclass MONDO:0007044 acrodysostosis 1 with or without hormone resistance NCIT NCIT:C136464 one_to_one MONDO:0007044 acrodysostosis 1 with or without hormone resistance OMIM OMIM:101800 one_to_one MONDO:0007044 acrodysostosis 1 with or without hormone resistance UMLS UMLS:C3276228 one_to_one +MONDO:0007044 acrodysostosis 1 with or without hormone resistance http http://identifiers.org/hgnc/9388 disease_has_basis_in_dysfunction_of 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 @@ -39622,14 +39812,17 @@ MONDO:0007048 acrokeratosis verruciformis OMIM OMIM:101900 one_to_one MONDO:0007048 acrokeratosis verruciformis Orphanet Orphanet:79151 one_to_one MONDO:0007048 acrokeratosis verruciformis SCTID SCTID:400085009 one_to_one MONDO:0007048 acrokeratosis verruciformis UMLS UMLS:C0265971 one_to_one +MONDO:0007048 acrokeratosis verruciformis http http://identifiers.org/hgnc/812 disease_has_basis_in_dysfunction_of MONDO:0007049 acroleukopathy, symmetric MESH MESH:C566322 one_to_one MONDO:0007049 acroleukopathy, symmetric MONDO MONDO:0003847 subclass MONDO:0007049 acroleukopathy, symmetric OMIM OMIM:102000 one_to_one MONDO:0007049 acroleukopathy, symmetric UMLS UMLS:C1863342 one_to_one +MONDO:0007049 acroleukopathy, symmetric http http://identifiers.org/hgnc/358 disease_has_basis_in_dysfunction_of MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma GARD GARD:0000500 one_to_one MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma MESH MESH:C535654 one_to_one MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma MONDO MONDO:0003847 subclass MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma OMIM OMIM:102100 one_to_one +MONDO:0007050 acromegaloid changes, cutis verticis gyrata, and corneal leukoma Orphanet Orphanet:964 one_to_one MONDO:0007051 acromegaloid facial appearance syndrome GARD GARD:0000501 one_to_one MONDO:0007051 acromegaloid facial appearance syndrome ICD10 ICD10:Q87.0 inexact MONDO:0007051 acromegaloid facial appearance syndrome MESH MESH:C535655 one_to_one @@ -39642,6 +39835,7 @@ MONDO:0007052 growth hormone secreting pituitary adenoma DOID DOID:6255 one_to_o 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: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 @@ -39658,6 +39852,7 @@ MONDO:0007055 acromicric dysplasia MONDO MONDO:0019695 subclass MONDO:0007055 acromicric dysplasia OMIM OMIM:102370 one_to_one MONDO:0007055 acromicric dysplasia Orphanet Orphanet:969 one_to_one MONDO:0007055 acromicric dysplasia SCTID SCTID:254090007 one_to_one +MONDO:0007055 acromicric dysplasia http http://identifiers.org/hgnc/3603 disease_has_basis_in_dysfunction_of MONDO:0007056 acroosteolysis MESH MESH:D030981 one_to_one MONDO:0007056 acroosteolysis MONDO MONDO:0019707 subclass MONDO:0007056 acroosteolysis NCIT NCIT:C35545 one_to_one @@ -39674,6 +39869,7 @@ MONDO:0007057 acroosteolysis dominant type OMIM OMIM:102500 one_to_one MONDO:0007057 acroosteolysis dominant type Orphanet Orphanet:955 one_to_one MONDO:0007057 acroosteolysis dominant type SCTID SCTID:63122002 one_to_one MONDO:0007057 acroosteolysis dominant type UMLS UMLS:C0917715,UMLS:C2930971 inexact +MONDO:0007057 acroosteolysis dominant type http http://identifiers.org/hgnc/7882 disease_has_basis_in_dysfunction_of MONDO:0007058 acropectorovertebral dysplasia GARD GARD:0000512 one_to_one MONDO:0007058 acropectorovertebral dysplasia ICD10 ICD10:Q74.8 inexact MONDO:0007058 acropectorovertebral dysplasia MESH MESH:C566319 one_to_one @@ -39693,6 +39889,7 @@ MONDO:0007059 acrorenal syndrome UMLS UMLS:C3495490,UMLS:CN206860 inexact MONDO:0007060 spermatogenic failure 6 MONDO MONDO:0004983,MONDO:0015746 subclass MONDO:0007060 spermatogenic failure 6 OMIM OMIM:102530 one_to_one MONDO:0007060 spermatogenic failure 6 SCTID SCTID:236818008 one_to_one +MONDO:0007060 spermatogenic failure 6 http http://identifiers.org/hgnc/29935 disease_has_basis_in_dysfunction_of MONDO:0007061 acylase, cobalt-activated MONDO MONDO:0003847 subclass MONDO:0007061 acylase, cobalt-activated OMIM OMIM:102590 one_to_one MONDO:0007062 congenital absence/hypoplasia of fingers excluding thumb, unilateral GARD GARD:0000377 one_to_one @@ -39713,6 +39910,7 @@ MONDO:0007064 adenosine deaminase deficiency NCIT NCIT:C3962 one_to_one MONDO:0007064 adenosine deaminase deficiency OMIM OMIM:102700 one_to_one MONDO:0007064 adenosine deaminase deficiency Orphanet Orphanet:277 one_to_one MONDO:0007064 adenosine deaminase deficiency SCTID SCTID:44940001 one_to_one +MONDO:0007064 adenosine deaminase deficiency http http://identifiers.org/hgnc/186 disease_has_basis_in_dysfunction_of MONDO:0007065 adenosine deaminase, elevated, hemolytic anemia due to MESH MESH:C566314 one_to_one MONDO:0007065 adenosine deaminase, elevated, hemolytic anemia due to MONDO MONDO:0003847 subclass MONDO:0007065 adenosine deaminase, elevated, hemolytic anemia due to OMIM OMIM:102730 one_to_one @@ -39728,6 +39926,7 @@ MONDO:0007067 pyruvate kinase hyperactivity MESH MESH:C566310 one_to_one MONDO:0007067 pyruvate kinase hyperactivity MONDO MONDO:0016789 subclass MONDO:0007067 pyruvate kinase hyperactivity OMIM OMIM:102900 one_to_one 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 ICD10 ICD10:E79.8 inexact @@ -39738,13 +39937,14 @@ 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 MONDO:0007068 adenylosuccinate lyase deficiency UMLS UMLS:C0268126 one_to_one +MONDO:0007068 adenylosuccinate lyase deficiency http http://identifiers.org/hgnc/291 disease_has_basis_in_dysfunction_of MONDO:0007070 adiposis dolorosa DOID DOID:3928 one_to_one MONDO:0007070 adiposis dolorosa EFO EFO:1000667 one_to_one MONDO:0007070 adiposis dolorosa GARD GARD:0005750 one_to_one MONDO:0007070 adiposis dolorosa ICD10 ICD10:E88.2 inexact MONDO:0007070 adiposis dolorosa ICD9 ICD9:272.8 inexact MONDO:0007070 adiposis dolorosa MESH MESH:D000274 one_to_one -MONDO:0007070 adiposis dolorosa MONDO MONDO:0006574,MONDO:0019296 subclass +MONDO:0007070 adiposis dolorosa MONDO MONDO:0000652,MONDO:0006574,MONDO:0019296 subclass MONDO:0007070 adiposis dolorosa MedDRA MedDRA:10001294 one_to_one MONDO:0007070 adiposis dolorosa NCIT NCIT:C84540 one_to_one MONDO:0007070 adiposis dolorosa OMIM OMIM:103200 one_to_one @@ -39768,6 +39968,7 @@ MONDO:0007072 ADULT syndrome OMIM OMIM:103285 one_to_one MONDO:0007072 ADULT syndrome Orphanet Orphanet:978 one_to_one MONDO:0007072 ADULT syndrome SCTID SCTID:720464003 one_to_one MONDO:0007072 ADULT syndrome UMLS UMLS:C1863204 one_to_one +MONDO:0007072 ADULT syndrome http http://identifiers.org/hgnc/15979 disease_has_basis_in_dysfunction_of MONDO:0007073 hypoglossia-hypodactyly syndrome GARD GARD:0000068 one_to_one MONDO:0007073 hypoglossia-hypodactyly syndrome ICD10 ICD10:Q87.2 inexact MONDO:0007073 hypoglossia-hypodactyly syndrome ICD9 ICD9:759.89 inexact @@ -39799,6 +40000,7 @@ MONDO:0007077 Tietz syndrome OMIM OMIM:103500 one_to_one MONDO:0007077 Tietz syndrome Orphanet Orphanet:42665 one_to_one MONDO:0007077 Tietz syndrome SCTID SCTID:403805009 one_to_one MONDO:0007077 Tietz syndrome UMLS UMLS:C0391816 one_to_one +MONDO:0007077 Tietz syndrome http http://identifiers.org/hgnc/7105 disease_has_basis_in_dysfunction_of MONDO:0007078 Albright hereditary osteodystrophy DOID DOID:0080053 one_to_one MONDO:0007078 Albright hereditary osteodystrophy GARD GARD:0005770,GARD:0007486 inexact MONDO:0007078 Albright hereditary osteodystrophy HP HP:0001513,HP:0004322 disease_has_feature @@ -39810,6 +40012,7 @@ MONDO:0007078 Albright hereditary osteodystrophy OMIM OMIM:103580 one_to_one MONDO:0007078 Albright hereditary osteodystrophy Orphanet Orphanet:79443 one_to_one MONDO:0007078 Albright hereditary osteodystrophy SCTID SCTID:58833000 one_to_one MONDO:0007078 Albright hereditary osteodystrophy UMLS UMLS:C2931404,UMLS:C3494506 inexact +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 EFO EFO:0003829 one_to_one @@ -39819,6 +40022,7 @@ MONDO:0007079 alcohol dependence MONDO MONDO:0005303 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 +MONDO:0007079 alcohol dependence http http://identifiers.org/hgnc/14921,http://identifiers.org/hgnc/18243,http://identifiers.org/hgnc/250,http://identifiers.org/hgnc/251,http://identifiers.org/hgnc/4076,http://identifiers.org/hgnc/5293 disease_has_basis_in_dysfunction_of MONDO:0007080 glucocorticoid-remediable aldosteronism DOID DOID:14080 one_to_one MONDO:0007080 glucocorticoid-remediable aldosteronism GARD GARD:0002790 one_to_one MONDO:0007080 glucocorticoid-remediable aldosteronism ICD10 ICD10:E26.0,ICD10:E26.02 inexact @@ -39828,6 +40032,7 @@ MONDO:0007080 glucocorticoid-remediable aldosteronism MONDO MONDO:0015512,MONDO: MONDO:0007080 glucocorticoid-remediable aldosteronism OMIM OMIM:103900 one_to_one MONDO:0007080 glucocorticoid-remediable aldosteronism Orphanet Orphanet:403 one_to_one MONDO:0007080 glucocorticoid-remediable aldosteronism UMLS UMLS:C1260386,UMLS:C3838731 inexact +MONDO:0007080 glucocorticoid-remediable aldosteronism http http://identifiers.org/hgnc/2591 disease_has_basis_in_dysfunction_of MONDO:0007082 alopecia areata 1 MONDO MONDO:0000005,MONDO:0005340 subclass MONDO:0007082 alopecia areata 1 OMIM OMIM:104000 one_to_one MONDO:0007082 alopecia areata 1 UMLS UMLS:C1863094 one_to_one @@ -39837,6 +40042,7 @@ MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopeci MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM OMIM:104100 one_to_one MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia Orphanet Orphanet:1010 one_to_one MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia SCTID SCTID:719518004 one_to_one +MONDO:0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia http http://identifiers.org/hgnc/4274 disease_has_basis_in_dysfunction_of MONDO:0007084 alopecia, familial focal MESH MESH:C566301 one_to_one MONDO:0007084 alopecia, familial focal MONDO MONDO:0000005 subclass MONDO:0007084 alopecia, familial focal OMIM OMIM:104110 one_to_one @@ -39857,13 +40063,16 @@ MONDO:0007086 autosomal dominant Alport syndrome MONDO MONDO:0000426,MONDO:00189 MONDO:0007086 autosomal dominant Alport syndrome OMIM OMIM:104200 one_to_one MONDO:0007086 autosomal dominant Alport syndrome Orphanet Orphanet:88918 one_to_one MONDO:0007086 autosomal dominant Alport syndrome SCTID SCTID:717766000 one_to_one +MONDO:0007086 autosomal dominant Alport syndrome http http://identifiers.org/hgnc/2204 disease_has_basis_in_dysfunction_of MONDO:0007087 alternating hemiplegia of childhood 1 MONDO MONDO:0016241 subclass MONDO:0007087 alternating hemiplegia of childhood 1 OMIM OMIM:104290 one_to_one MONDO:0007087 alternating hemiplegia of childhood 1 UMLS UMLS:C3549447 one_to_one +MONDO:0007087 alternating hemiplegia of childhood 1 http http://identifiers.org/hgnc/800 disease_has_basis_in_dysfunction_of MONDO:0007088 Alzheimer disease type 1 GARD GARD:0009465 one_to_one MONDO:0007088 Alzheimer disease type 1 MONDO MONDO:0015140 subclass MONDO:0007088 Alzheimer disease type 1 OMIM OMIM:104300 one_to_one MONDO:0007088 Alzheimer disease type 1 UMLS UMLS:C2931257 one_to_one +MONDO:0007088 Alzheimer disease type 1 http http://identifiers.org/hgnc/1059,http://identifiers.org/hgnc/11185,http://identifiers.org/hgnc/2707,http://identifiers.org/hgnc/4886,http://identifiers.org/hgnc/582,http://identifiers.org/hgnc/620,http://identifiers.org/hgnc/7,http://identifiers.org/hgnc/7218,http://identifiers.org/hgnc/7876,http://identifiers.org/hgnc/8624,http://identifiers.org/hgnc/9052 disease_has_basis_in_dysfunction_of MONDO:0007089 Alzheimer disease 2 DOID DOID:0110035 one_to_one MONDO:0007089 Alzheimer disease 2 GARD GARD:0009467 one_to_one MONDO:0007089 Alzheimer disease 2 ICD10 ICD10:G30 inexact @@ -39871,6 +40080,7 @@ MONDO:0007089 Alzheimer disease 2 MESH MESH:C536595 one_to_one MONDO:0007089 Alzheimer disease 2 MONDO MONDO:0015140 subclass MONDO:0007089 Alzheimer disease 2 OMIM OMIM:104310 one_to_one MONDO:0007089 Alzheimer disease 2 UMLS UMLS:C1863051 one_to_one +MONDO:0007089 Alzheimer disease 2 http http://identifiers.org/hgnc/613 disease_has_basis_in_dysfunction_of MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism MESH MESH:C566295 one_to_one MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism MONDO MONDO:0003847 subclass MONDO:0007090 amastia, bilateral, with ureteral triplication and dysmorphism OMIM OMIM:104350 one_to_one @@ -39885,25 +40095,25 @@ MONDO:0007092 amelogenesis imperfecta type 1B ICD10 ICD10:K00.5 inexact MONDO:0007092 amelogenesis imperfecta type 1B ICD9 ICD9:520.5 inexact MONDO:0007092 amelogenesis imperfecta type 1B MESH MESH:C562879 one_to_one MONDO:0007092 amelogenesis imperfecta type 1B MONDO MONDO:0003847,MONDO:0015047,MONDO:0019507 subclass -MONDO:0007092 amelogenesis imperfecta type 1B NCBIGene NCBIGene:10117 disease_has_basis_in_dysfunction_of MONDO:0007092 amelogenesis imperfecta type 1B OMIM OMIM:104500 one_to_one MONDO:0007092 amelogenesis imperfecta type 1B SCTID SCTID:234961008 one_to_one MONDO:0007092 amelogenesis imperfecta type 1B UMLS UMLS:C0399368 one_to_one +MONDO:0007092 amelogenesis imperfecta type 1B http http://identifiers.org/hgnc/3344 disease_has_basis_in_dysfunction_of MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism DOID DOID:0110053 one_to_one MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism ICD10 ICD10:K00.5 inexact MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MESH MESH:C566293 one_to_one MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism MONDO MONDO:0003847,MONDO:0019507 subclass -MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism NCBIGene NCBIGene:1747 disease_has_basis_in_dysfunction_of MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism OMIM OMIM:104510 one_to_one MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism Orphanet Orphanet:100034 one_to_one MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism UMLS UMLS:C1863012 one_to_one +MONDO:0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism http http://identifiers.org/hgnc/2916 disease_has_basis_in_dysfunction_of MONDO:0007094 amelogenesis imperfecta type 1A DOID DOID:0110054 one_to_one MONDO:0007094 amelogenesis imperfecta type 1A GARD GARD:0000645 one_to_one MONDO:0007094 amelogenesis imperfecta type 1A ICD10 ICD10:K00.5 inexact MONDO:0007094 amelogenesis imperfecta type 1A MESH MESH:C538240 one_to_one MONDO:0007094 amelogenesis imperfecta type 1A MONDO MONDO:0003847,MONDO:0015047,MONDO:0019507 subclass -MONDO:0007094 amelogenesis imperfecta type 1A NCBIGene NCBIGene:3914 disease_has_basis_in_dysfunction_of MONDO:0007094 amelogenesis imperfecta type 1A OMIM OMIM:104530 one_to_one +MONDO:0007094 amelogenesis imperfecta type 1A http http://identifiers.org/hgnc/6490 disease_has_basis_in_dysfunction_of MONDO:0007095 ameloonychohypohidrotic syndrome GARD GARD:0000647 one_to_one MONDO:0007095 ameloonychohypohidrotic syndrome ICD10 ICD10:Q82.4 inexact MONDO:0007095 ameloonychohypohidrotic syndrome MESH MESH:C538245 one_to_one @@ -39927,6 +40137,7 @@ MONDO:0007097 Finnish type amyloidosis MONDO MONDO:0016134,MONDO:0018634,MONDO:0 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 +MONDO:0007097 Finnish type amyloidosis http http://identifiers.org/hgnc/4620 disease_has_basis_in_dysfunction_of MONDO:0007098 ACys amyloidosis DOID DOID:0070027 one_to_one MONDO:0007098 ACys amyloidosis ICD10 ICD10:E85.4+,ICD10:I68.0* inexact MONDO:0007098 ACys amyloidosis ICD9 ICD9:277.39,ICD9:437.8 inexact @@ -39934,6 +40145,7 @@ MONDO:0007098 ACys amyloidosis MONDO MONDO:0005620 subclass MONDO:0007098 ACys amyloidosis OMIM OMIM:105150 one_to_one MONDO:0007098 ACys amyloidosis Orphanet Orphanet:100008 one_to_one MONDO:0007098 ACys amyloidosis SCTID SCTID:703220002 one_to_one +MONDO:0007098 ACys amyloidosis http http://identifiers.org/hgnc/2475 disease_has_basis_in_dysfunction_of MONDO:0007099 familial visceral amyloidosis DOID DOID:0050636 one_to_one MONDO:0007099 familial visceral amyloidosis GARD GARD:0008282 one_to_one MONDO:0007099 familial visceral amyloidosis ICD10 ICD10:E85.0 inexact @@ -39944,6 +40156,7 @@ MONDO:0007099 familial visceral amyloidosis OMIM OMIM:105200 one_to_one MONDO:0007099 familial visceral amyloidosis Orphanet Orphanet:85450 one_to_one MONDO:0007099 familial visceral amyloidosis SCTID SCTID:66451004 one_to_one MONDO:0007099 familial visceral amyloidosis UMLS UMLS:C0268389 one_to_one +MONDO:0007099 familial visceral amyloidosis http http://identifiers.org/hgnc/3661,http://identifiers.org/hgnc/600,http://identifiers.org/hgnc/6740,http://identifiers.org/hgnc/914 disease_has_basis_in_dysfunction_of MONDO:0007100 familial amyloid neuropathy DOID DOID:0050638,DOID:0050761 inexact MONDO:0007100 familial amyloid neuropathy EFO EFO:0004129 one_to_one MONDO:0007100 familial amyloid neuropathy GARD GARD:0000656 one_to_one @@ -39955,6 +40168,7 @@ MONDO:0007100 familial amyloid neuropathy OMIM OMIM:105210 one_to_one MONDO:0007100 familial amyloid neuropathy Orphanet Orphanet:85447 one_to_one MONDO:0007100 familial amyloid neuropathy SCTID SCTID:42295001 one_to_one MONDO:0007100 familial amyloid neuropathy UMLS UMLS:C0206245,UMLS:C2751492 inexact +MONDO:0007100 familial amyloid neuropathy http http://identifiers.org/hgnc/12405 disease_has_basis_in_dysfunction_of MONDO:0007101 familial primary localized cutaneous amyloidosis GARD GARD:0000132 one_to_one MONDO:0007101 familial primary localized cutaneous amyloidosis ICD10 ICD10:E85.4+,ICD10:L99.0* inexact MONDO:0007101 familial primary localized cutaneous amyloidosis MESH MESH:C562643 one_to_one @@ -39970,8 +40184,8 @@ MONDO:0007103 amyotrophic lateral sclerosis type 1 DOID DOID:0060193 one_to_one MONDO:0007103 amyotrophic lateral sclerosis type 1 ICD10 ICD10:G12.2 inexact MONDO:0007103 amyotrophic lateral sclerosis type 1 MESH MESH:C531617 one_to_one MONDO:0007103 amyotrophic lateral sclerosis type 1 MONDO MONDO:0004976,MONDO:0005144 subclass -MONDO:0007103 amyotrophic lateral sclerosis type 1 NCBIGene NCBIGene:1639,NCBIGene:4744,NCBIGene:5630,NCBIGene:6647 disease_has_basis_in_dysfunction_of MONDO:0007103 amyotrophic lateral sclerosis type 1 OMIM OMIM:105400 one_to_one +MONDO:0007103 amyotrophic lateral sclerosis type 1 http http://identifiers.org/hgnc/11179,http://identifiers.org/hgnc/2711,http://identifiers.org/hgnc/7737,http://identifiers.org/hgnc/9461 disease_has_basis_in_dysfunction_of MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex GARD GARD:0009239 one_to_one MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex HP HP:0000726,HP:0001300 disease_has_feature MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex ICD10 ICD10:G12.2 inexact @@ -39979,10 +40193,12 @@ MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex MONDO MONDO:0020136 subclass MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex OMIM OMIM:105500 one_to_one MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex Orphanet Orphanet:90020 one_to_one +MONDO:0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex http http://identifiers.org/hgnc/17994 disease_has_basis_in_dysfunction_of MONDO:0007105 frontotemporal dementia with motor neuron disease 1 DOID DOID:0060213 one_to_one -MONDO:0007105 frontotemporal dementia with motor neuron disease 1 MONDO MONDO:0000712 subclass +MONDO:0007105 frontotemporal dementia with motor neuron disease 1 MONDO MONDO:0000712,MONDO:0017161 subclass MONDO:0007105 frontotemporal dementia with motor neuron disease 1 OMIM OMIM:105550 one_to_one MONDO:0007105 frontotemporal dementia with motor neuron disease 1 UMLS UMLS:C1862937 one_to_one +MONDO:0007105 frontotemporal dementia with motor neuron disease 1 http http://identifiers.org/hgnc/28337 disease_has_basis_in_dysfunction_of MONDO:0007106 anal sphincter dysplasia GARD GARD:0009822 one_to_one MONDO:0007106 anal sphincter dysplasia MESH MESH:C538254 one_to_one MONDO:0007106 anal sphincter dysplasia MONDO MONDO:0003847 subclass @@ -40010,6 +40226,7 @@ MONDO:0007109 congenital dyserythropoietic anemia type III UMLS UMLS:C0271934 on MONDO:0007110 Diamond-Blackfan anemia 1 MONDO MONDO:0015253 subclass MONDO:0007110 Diamond-Blackfan anemia 1 OMIM OMIM:105650 one_to_one MONDO:0007110 Diamond-Blackfan anemia 1 UMLS UMLS:C2676137 one_to_one +MONDO:0007110 Diamond-Blackfan anemia 1 http http://identifiers.org/hgnc/10402 disease_has_basis_in_dysfunction_of MONDO:0007111 ANIB1 MESH MESH:C566284 one_to_one MONDO:0007111 ANIB1 MONDO MONDO:0016483 subclass MONDO:0007111 ANIB1 OMIM OMIM:105800 one_to_one @@ -40032,6 +40249,7 @@ MONDO:0007113 Angelman syndrome OMIM OMIM:105830 one_to_one MONDO:0007113 Angelman syndrome Orphanet Orphanet:72 one_to_one MONDO:0007113 Angelman syndrome SCTID SCTID:76880004 one_to_one MONDO:0007113 Angelman syndrome UMLS UMLS:C0162635 one_to_one +MONDO:0007113 Angelman syndrome http http://identifiers.org/hgnc/12496 disease_has_basis_in_dysfunction_of MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia GARD GARD:0000671 one_to_one MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia ICD10 ICD10:Q78.8 inexact MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia MESH MESH:C536361 one_to_one @@ -40052,17 +40270,19 @@ 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 MONDO:0007117 angioedema, hereditary, type 1/2 OMIM OMIM:106100 one_to_one +MONDO:0007117 angioedema, hereditary, type 1/2 http http://identifiers.org/hgnc/1228 disease_has_basis_in_dysfunction_of MONDO:0007118 isolated anhidrosis with normal sweat glands DOID DOID:0060603 one_to_one MONDO:0007118 isolated anhidrosis with normal sweat glands MONDO MONDO:0006527,MONDO:0015946,MONDO:0015949,MONDO:0018798,MONDO:0019295,MONDO:0019296 subclass -MONDO:0007118 isolated anhidrosis with normal sweat glands NCBIGene NCBIGene:3709 disease_has_basis_in_dysfunction_of MONDO:0007118 isolated anhidrosis with normal sweat glands OMIM OMIM:106190 one_to_one MONDO:0007118 isolated anhidrosis with normal sweat glands Orphanet Orphanet:468666 one_to_one MONDO:0007118 isolated anhidrosis with normal sweat glands UMLS UMLS:C1862871 one_to_one +MONDO:0007118 isolated anhidrosis with normal sweat glands http http://identifiers.org/hgnc/6181 disease_has_basis_in_dysfunction_of MONDO:0007119 isolated aniridia ICD10 ICD10:Q13.1 inexact MONDO:0007119 isolated aniridia MONDO MONDO:0021128 has_modifier MONDO:0007119 isolated aniridia MONDO MONDO:0015217,MONDO:0019172 subclass MONDO:0007119 isolated aniridia OMIMPS OMIMPS:106210 one_to_one MONDO:0007119 isolated aniridia Orphanet Orphanet:250923 one_to_one +MONDO:0007119 isolated aniridia http http://identifiers.org/hgnc/1171,http://identifiers.org/hgnc/12796,http://identifiers.org/hgnc/8620 disease_has_basis_in_dysfunction_of MONDO:0007120 aniridia-absent patella syndrome GARD GARD:0000685 one_to_one MONDO:0007120 aniridia-absent patella syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007120 aniridia-absent patella syndrome MESH MESH:C566281 one_to_one @@ -40097,6 +40317,7 @@ MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome MONDO MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome OMIM OMIM:106260 one_to_one MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Orphanet Orphanet:1071 one_to_one MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome SCTID SCTID:55821006 one_to_one +MONDO:0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome http http://identifiers.org/hgnc/15979 disease_has_basis_in_dysfunction_of 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 @@ -40107,6 +40328,7 @@ MONDO:0007125 ankyloglossia OMIM OMIM:106280 one_to_one MONDO:0007125 ankyloglossia SCTID SCTID:67787004 one_to_one MONDO:0007126 spondyloarthropathy, susceptibility to, 1 MONDO MONDO:0024512 subclass MONDO:0007126 spondyloarthropathy, susceptibility to, 1 OMIM OMIM:106300 one_to_one +MONDO:0007126 spondyloarthropathy, susceptibility to, 1 http http://identifiers.org/hgnc/4932 disease_has_basis_in_dysfunction_of MONDO:0007127 diffuse idiopathic skeletal hyperostosis COHD COHD:77961 one_to_one MONDO:0007127 diffuse idiopathic skeletal hyperostosis DOID DOID:6652 one_to_one MONDO:0007127 diffuse idiopathic skeletal hyperostosis EFO EFO:0007236 one_to_one @@ -40127,6 +40349,7 @@ MONDO:0007128 annular erythema SCTID SCTID:200920000 one_to_one MONDO:0007128 annular erythema UMLS UMLS:C0234906 one_to_one MONDO:0007129 tooth agenesis, selective, 1 MONDO MONDO:0003847,MONDO:0005486 subclass MONDO:0007129 tooth agenesis, selective, 1 OMIM OMIM:106600 one_to_one +MONDO:0007129 tooth agenesis, selective, 1 http http://identifiers.org/hgnc/7391 disease_has_basis_in_dysfunction_of MONDO:0007130 congenital total pulmonary venous return anomaly COHD COHD:432432 one_to_one MONDO:0007130 congenital total pulmonary venous return anomaly DOID DOID:4297 one_to_one MONDO:0007130 congenital total pulmonary venous return anomaly EFO EFO:1001167 one_to_one @@ -40151,6 +40374,7 @@ MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodacty MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly MESH MESH:C536379 one_to_one MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly MONDO MONDO:0003847 subclass MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly OMIM OMIM:106990 one_to_one +MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly Orphanet Orphanet:2355 one_to_one MONDO:0007133 anonychia-onychodystrophy with brachydactyly type b and ectrodactyly UMLS UMLS:C1862842 one_to_one MONDO:0007134 Cooks syndrome GARD GARD:0004083 one_to_one MONDO:0007134 Cooks syndrome ICD10 ICD10:Q84.6 inexact @@ -40180,6 +40404,7 @@ MONDO:0007138 anterior segment dysgenesis 1 ICD10 ICD10:Q13.8 inexact MONDO:0007138 anterior segment dysgenesis 1 MONDO MONDO:0019503 subclass MONDO:0007138 anterior segment dysgenesis 1 OMIM OMIM:107250 one_to_one MONDO:0007138 anterior segment dysgenesis 1 UMLS UMLS:C1862839 one_to_one +MONDO:0007138 anterior segment dysgenesis 1 http http://identifiers.org/hgnc/3808,http://identifiers.org/hgnc/9006 disease_has_basis_in_dysfunction_of MONDO:0007139 Antipyrine metabolism MONDO MONDO:0003847 subclass MONDO:0007139 Antipyrine metabolism OMIM OMIM:107290 one_to_one MONDO:0007139 Antipyrine metabolism UMLS UMLS:C1862824 one_to_one @@ -40208,6 +40433,7 @@ MONDO:0007142 Townes-Brocks syndrome OMIMPS OMIMPS:107480 one_to_one MONDO:0007142 Townes-Brocks syndrome Orphanet Orphanet:857 one_to_one MONDO:0007142 Townes-Brocks syndrome SCTID SCTID:24750000 one_to_one MONDO:0007142 Townes-Brocks syndrome UMLS UMLS:C0265246,UMLS:CN034849 inexact +MONDO:0007142 Townes-Brocks syndrome http http://identifiers.org/hgnc/10524 disease_has_basis_in_dysfunction_of 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 @@ -40228,6 +40454,7 @@ MONDO:0007145 aplasia cutis congenita (disease) NCIT NCIT:C98822 one_to_one MONDO:0007145 aplasia cutis congenita (disease) OMIM OMIM:107600 one_to_one MONDO:0007145 aplasia cutis congenita (disease) Orphanet Orphanet:1114 one_to_one MONDO:0007145 aplasia cutis congenita (disease) SCTID SCTID:35484002 one_to_one +MONDO:0007145 aplasia cutis congenita (disease) http http://identifiers.org/hgnc/23505 disease_has_basis_in_dysfunction_of MONDO:0007147 obstructive sleep apnea syndrome DOID DOID:0050848 one_to_one MONDO:0007147 obstructive sleep apnea syndrome EFO EFO:0003918 one_to_one MONDO:0007147 obstructive sleep apnea syndrome HP HP:0002870 one_to_one @@ -40258,9 +40485,10 @@ MONDO:0007151 arms, malformation of MONDO MONDO:0003847 subclass MONDO:0007151 arms, malformation of OMIM OMIM:107900 one_to_one MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 DOID DOID:0110070 one_to_one MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 ICD10 ICD10:I42.8,ICD10:Q24.8 inexact -MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 MONDO MONDO:0017401,MONDO:0017402,MONDO:0017403 subclass +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 MONDO MONDO:0016587,MONDO:0017401,MONDO:0017402,MONDO:0017403 subclass MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 OMIM OMIM:107970 one_to_one MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 UMLS UMLS:C1862511 one_to_one +MONDO:0007152 arrhythmogenic right ventricular dysplasia 1 http http://identifiers.org/hgnc/11769 disease_has_basis_in_dysfunction_of MONDO:0007153 arteries, anomalies of MONDO MONDO:0003847 subclass MONDO:0007153 arteries, anomalies of OMIM OMIM:108000 one_to_one MONDO:0007154 arteriovenous malformations of the brain COHD COHD:4121803 one_to_one @@ -40274,6 +40502,7 @@ MONDO:0007154 arteriovenous malformations of the brain OMIM OMIM:108010 one_to_o MONDO:0007154 arteriovenous malformations of the brain Orphanet Orphanet:46724 one_to_one MONDO:0007154 arteriovenous malformations of the brain SCTID SCTID:234142008 one_to_one MONDO:0007154 arteriovenous malformations of the brain UMLS UMLS:C0007772 one_to_one +MONDO:0007154 arteriovenous malformations of the brain http http://identifiers.org/hgnc/6018 disease_has_basis_in_dysfunction_of MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis MESH MESH:C566253 one_to_one MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis MONDO MONDO:0003847 subclass MONDO:0007155 arteritis, familial granulomatous, with juvenile polyarthritis OMIM OMIM:108050 one_to_one @@ -40284,6 +40513,7 @@ MONDO:0007156 arthritis, sacroiliac OMIM OMIM:108100 one_to_one MONDO:0007156 arthritis, sacroiliac UMLS UMLS:C0748473 one_to_one MONDO:0007157 arthrogryposis, distal, type 1A MONDO MONDO:0015240 subclass MONDO:0007157 arthrogryposis, distal, type 1A OMIM OMIM:108120 one_to_one +MONDO:0007157 arthrogryposis, distal, type 1A http http://identifiers.org/hgnc/12011 disease_has_basis_in_dysfunction_of MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome GARD GARD:0004047 one_to_one MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome ICD10 ICD10:Q68.8 inexact MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome MONDO MONDO:0019942 subclass @@ -40291,6 +40521,7 @@ MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syn MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome Orphanet Orphanet:1154 one_to_one MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome SCTID SCTID:715217004 one_to_one MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome UMLS UMLS:C1862472 one_to_one +MONDO:0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome http http://identifiers.org/hgnc/26270 disease_has_basis_in_dysfunction_of MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome GARD GARD:0000784 one_to_one MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome ICD10 ICD10:Q68.8 inexact MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome MESH MESH:C535386 one_to_one @@ -40302,7 +40533,7 @@ MONDO:0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome U MONDO:0007160 Stickler syndrome type 1 GARD GARD:0005018 one_to_one MONDO:0007160 Stickler syndrome type 1 ICD10 ICD10:Q87.5 inexact MONDO:0007160 Stickler syndrome type 1 MESH MESH:C537492 one_to_one -MONDO:0007160 Stickler syndrome type 1 MONDO MONDO:0019354,MONDO:0019686 subclass +MONDO:0007160 Stickler syndrome type 1 MONDO MONDO:0019354,MONDO:0019686,MONDO:0022800 subclass MONDO:0007160 Stickler syndrome type 1 OMIM OMIM:108300 one_to_one MONDO:0007160 Stickler syndrome type 1 Orphanet Orphanet:90653 one_to_one MONDO:0007161 SPGF2 MONDO MONDO:0004983,MONDO:0018393 subclass @@ -40320,6 +40551,7 @@ MONDO:0007163 episodic ataxia type 2 OMIM OMIM:108500 one_to_one MONDO:0007163 episodic ataxia type 2 Orphanet Orphanet:97 one_to_one MONDO:0007163 episodic ataxia type 2 SCTID SCTID:420932006 one_to_one MONDO:0007163 episodic ataxia type 2 UMLS UMLS:C1720416 one_to_one +MONDO:0007163 episodic ataxia type 2 http http://identifiers.org/hgnc/1388 disease_has_basis_in_dysfunction_of MONDO:0007164 spastic ataxia 1 DOID DOID:0050772 one_to_one MONDO:0007164 spastic ataxia 1 ICD10 ICD10:G11.4 inexact MONDO:0007164 spastic ataxia 1 MESH MESH:C566993 one_to_one @@ -40327,6 +40559,7 @@ MONDO:0007164 spastic ataxia 1 MONDO MONDO:0017846 subclass MONDO:0007164 spastic ataxia 1 OMIM OMIM:108600 one_to_one MONDO:0007164 spastic ataxia 1 Orphanet Orphanet:251282 one_to_one MONDO:0007164 spastic ataxia 1 UMLS UMLS:C1970107 one_to_one +MONDO:0007164 spastic ataxia 1 http http://identifiers.org/hgnc/12642 disease_has_basis_in_dysfunction_of MONDO:0007165 spastic ataxia 7 DOID DOID:0050945 one_to_one MONDO:0007165 spastic ataxia 7 ICD10 ICD10:G11.4 inexact MONDO:0007165 spastic ataxia 7 MESH MESH:C566247 one_to_one @@ -40344,12 +40577,14 @@ MONDO:0007167 atelosteogenesis type I MESH MESH:C535396 one_to_one MONDO:0007167 atelosteogenesis type I MONDO MONDO:0000389,MONDO:0015322,MONDO:0019690,MONDO:0019700 subclass MONDO:0007167 atelosteogenesis type I OMIM OMIM:108720 one_to_one MONDO:0007167 atelosteogenesis type I Orphanet Orphanet:1190 one_to_one +MONDO:0007167 atelosteogenesis type I http http://identifiers.org/hgnc/3755 disease_has_basis_in_dysfunction_of 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 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 MONDO:0007169 ATHS MONDO MONDO:0020573 subclass MONDO:0007169 ATHS OMIM OMIM:108725 one_to_one MONDO:0007170 atresia of external auditory canal and conductive deafness MONDO MONDO:0015385 subclass @@ -40357,6 +40592,7 @@ MONDO:0007170 atresia of external auditory canal and conductive deafness OMIM OM MONDO:0007170 atresia of external auditory canal and conductive deafness UMLS UMLS:C3276095 one_to_one MONDO:0007171 atrial standstill 1 MONDO MONDO:0015281 subclass MONDO:0007171 atrial standstill 1 OMIM OMIM:108770 one_to_one +MONDO:0007171 atrial standstill 1 http http://identifiers.org/hgnc/4279 disease_has_basis_in_dysfunction_of MONDO:0007172 atrial heart septal defect 1 DOID DOID:0110106 one_to_one MONDO:0007172 atrial heart septal defect 1 ICD10 ICD10:Q21.1 inexact MONDO:0007172 atrial heart septal defect 1 MONDO MONDO:0006664 subclass @@ -40368,6 +40604,7 @@ MONDO:0007173 atrial heart septal defect 7 MONDO MONDO:0006664,MONDO:0015110,MON MONDO:0007173 atrial heart septal defect 7 OMIM OMIM:108900 one_to_one MONDO:0007173 atrial heart septal defect 7 Orphanet Orphanet:1479 one_to_one MONDO:0007173 atrial heart septal defect 7 UMLS UMLS:C3502353 one_to_one +MONDO:0007173 atrial heart septal defect 7 http http://identifiers.org/hgnc/2488 disease_has_basis_in_dysfunction_of MONDO:0007174 Lown-Ganong-Levine syndrome COHD COHD:437892 one_to_one MONDO:0007174 Lown-Ganong-Levine syndrome DOID DOID:13087 one_to_one MONDO:0007174 Lown-Ganong-Levine syndrome ICD10 ICD10:I45.6 inexact @@ -40388,13 +40625,14 @@ MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO MONDO:0019 MONDO:0007176 helicoid peripapillary chorioretinal degeneration OMIM OMIM:108985 one_to_one MONDO:0007176 helicoid peripapillary chorioretinal degeneration Orphanet Orphanet:86813 one_to_one MONDO:0007176 helicoid peripapillary chorioretinal degeneration UMLS UMLS:C1862382 one_to_one -MONDO:0007177 Auriculoosteodysplasia GARD GARD:0008663 one_to_one -MONDO:0007177 Auriculoosteodysplasia ICD10 ICD10:Q87.5 inexact -MONDO:0007177 Auriculoosteodysplasia MESH MESH:C538271 one_to_one -MONDO:0007177 Auriculoosteodysplasia MONDO MONDO:0019700 subclass -MONDO:0007177 Auriculoosteodysplasia OMIM OMIM:109000 one_to_one -MONDO:0007177 Auriculoosteodysplasia Orphanet Orphanet:114 one_to_one -MONDO:0007177 Auriculoosteodysplasia UMLS UMLS:C1862381 one_to_one +MONDO:0007176 helicoid peripapillary chorioretinal degeneration http http://identifiers.org/hgnc/11714 disease_has_basis_in_dysfunction_of +MONDO:0007177 auriculoosteodysplasia GARD GARD:0008663 one_to_one +MONDO:0007177 auriculoosteodysplasia ICD10 ICD10:Q87.5 inexact +MONDO:0007177 auriculoosteodysplasia MESH MESH:C538271 one_to_one +MONDO:0007177 auriculoosteodysplasia MONDO MONDO:0019700 subclass +MONDO:0007177 auriculoosteodysplasia OMIM OMIM:109000 one_to_one +MONDO:0007177 auriculoosteodysplasia Orphanet Orphanet:114 one_to_one +MONDO:0007177 auriculoosteodysplasia UMLS UMLS:C1862381 one_to_one MONDO:0007178 aurocephalosyndactyly GARD GARD:0009218 one_to_one MONDO:0007178 aurocephalosyndactyly MESH MESH:C566235 one_to_one MONDO:0007178 aurocephalosyndactyly MONDO MONDO:0003847 subclass @@ -40436,6 +40674,7 @@ MONDO:0007182 Machado-Joseph disease OMIM OMIM:109150 one_to_one MONDO:0007182 Machado-Joseph disease Orphanet Orphanet:98757 one_to_one MONDO:0007182 Machado-Joseph disease SCTID SCTID:91952008 one_to_one MONDO:0007182 Machado-Joseph disease UMLS UMLS:C0024408 one_to_one +MONDO:0007182 Machado-Joseph disease http http://identifiers.org/hgnc/7106 disease_has_basis_in_dysfunction_of MONDO:0007183 azotemia, familial MESH MESH:C566233 one_to_one MONDO:0007183 azotemia, familial MONDO MONDO:0003847 subclass MONDO:0007183 azotemia, familial OMIM OMIM:109160 one_to_one @@ -40473,6 +40712,7 @@ MONDO:0007187 nevoid basal cell carcinoma syndrome OMIM OMIM:109400 one_to_one MONDO:0007187 nevoid basal cell carcinoma syndrome Orphanet Orphanet:377 one_to_one MONDO:0007187 nevoid basal cell carcinoma syndrome SCTID SCTID:69408002 one_to_one MONDO:0007187 nevoid basal cell carcinoma syndrome UMLS UMLS:C0004779 one_to_one +MONDO:0007187 nevoid basal cell carcinoma syndrome http http://identifiers.org/hgnc/16466,http://identifiers.org/hgnc/9585,http://identifiers.org/hgnc/9586 disease_has_basis_in_dysfunction_of MONDO:0007188 primary basilar invagination GARD GARD:0001037 one_to_one MONDO:0007188 primary basilar invagination ICD10 ICD10:Q75.8 inexact MONDO:0007188 primary basilar invagination MESH MESH:C566226 one_to_one @@ -40551,6 +40791,7 @@ MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM OM 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 MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome UMLS UMLS:C0220663 one_to_one +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome http http://identifiers.org/hgnc/1092 disease_has_basis_in_dysfunction_of MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome GARD GARD:0000912 one_to_one MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome ICD10 ICD10:Q15.8 inexact MONDO:0007202 blepharoptosis-myopia-ectopia lentis syndrome MESH MESH:C536236 one_to_one @@ -40573,6 +40814,7 @@ MONDO:0007203 blue rubber bleb nevus UMLS UMLS:C0346072 one_to_one MONDO:0007204 Cole-Carpenter syndrome 1 MONDO MONDO:0016085 subclass MONDO:0007204 Cole-Carpenter syndrome 1 OMIM OMIM:112240 one_to_one MONDO:0007204 Cole-Carpenter syndrome 1 UMLS UMLS:C4317154,UMLS:CN029402 inexact +MONDO:0007204 Cole-Carpenter syndrome 1 http http://identifiers.org/hgnc/8548 disease_has_basis_in_dysfunction_of MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome GARD GARD:0010072 one_to_one MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome ICD10 ICD10:M89.8 inexact MONDO:0007205 diaphyseal medullary stenosis-bone malignancy syndrome MONDO MONDO:0015959,MONDO:0015960,MONDO:0019703 subclass @@ -40600,6 +40842,7 @@ MONDO:0007208 Boomerang dysplasia OMIM OMIM:112310 one_to_one MONDO:0007208 Boomerang dysplasia Orphanet Orphanet:1263 one_to_one MONDO:0007208 Boomerang dysplasia SCTID SCTID:254054000 one_to_one MONDO:0007208 Boomerang dysplasia UMLS UMLS:C0432201 one_to_one +MONDO:0007208 Boomerang dysplasia http http://identifiers.org/hgnc/3755 disease_has_basis_in_dysfunction_of MONDO:0007209 Weismann-Netter syndrome GARD GARD:0005232 one_to_one MONDO:0007209 Weismann-Netter syndrome ICD10 ICD10:Q77.8 inexact MONDO:0007209 Weismann-Netter syndrome MESH MESH:C537082 one_to_one @@ -40620,6 +40863,7 @@ MONDO:0007211 brachydactyly-arterial hypertension syndrome OMIM OMIM:112410 one_ MONDO:0007211 brachydactyly-arterial hypertension syndrome Orphanet Orphanet:1276 one_to_one MONDO:0007211 brachydactyly-arterial hypertension syndrome SCTID SCTID:720568003 one_to_one MONDO:0007211 brachydactyly-arterial hypertension syndrome UMLS UMLS:C1862170 one_to_one +MONDO:0007211 brachydactyly-arterial hypertension syndrome http http://identifiers.org/hgnc/8778 disease_has_basis_in_dysfunction_of MONDO:0007212 brachydactyly-long thumb syndrome GARD GARD:0000968 one_to_one MONDO:0007212 brachydactyly-long thumb syndrome ICD10 ICD10:Q87.2 inexact MONDO:0007212 brachydactyly-long thumb syndrome MESH MESH:C566204 one_to_one @@ -40653,6 +40897,7 @@ MONDO:0007215 brachydactyly type A1 OMIM OMIM:112500 one_to_one MONDO:0007215 brachydactyly type A1 Orphanet Orphanet:93388 one_to_one MONDO:0007215 brachydactyly type A1 SCTID SCTID:715720006 one_to_one MONDO:0007215 brachydactyly type A1 UMLS UMLS:C1862151 one_to_one +MONDO:0007215 brachydactyly type A1 http http://identifiers.org/hgnc/5956 disease_has_basis_in_dysfunction_of MONDO:0007216 brachydactyly type A2 DOID DOID:0110965 one_to_one MONDO:0007216 brachydactyly type A2 GARD GARD:0000979,GARD:0000989 inexact MONDO:0007216 brachydactyly type A2 ICD10 ICD10:Q73.8 inexact @@ -40661,6 +40906,7 @@ MONDO:0007216 brachydactyly type A2 MONDO MONDO:0019066 subclass MONDO:0007216 brachydactyly type A2 OMIM OMIM:112600 one_to_one MONDO:0007216 brachydactyly type A2 Orphanet Orphanet:93396 one_to_one MONDO:0007216 brachydactyly type A2 SCTID SCTID:720569006 one_to_one +MONDO:0007216 brachydactyly type A2 http http://identifiers.org/hgnc/1069,http://identifiers.org/hgnc/1077,http://identifiers.org/hgnc/4220 disease_has_basis_in_dysfunction_of MONDO:0007217 brachydactyly type A3 DOID DOID:0110966 one_to_one MONDO:0007217 brachydactyly type A3 GARD GARD:0000963 one_to_one MONDO:0007217 brachydactyly type A3 MESH MESH:C537090 one_to_one @@ -40687,8 +40933,8 @@ MONDO:0007219 brachydactyly type A6 UMLS UMLS:C1862130 one_to_one MONDO:0007220 brachydactyly type B1 DOID DOID:0110969 one_to_one MONDO:0007220 brachydactyly type B1 MESH MESH:C566196 one_to_one MONDO:0007220 brachydactyly type B1 MONDO MONDO:0019676 subclass -MONDO:0007220 brachydactyly type B1 NCBIGene NCBIGene:4920 disease_has_basis_in_dysfunction_of MONDO:0007220 brachydactyly type B1 OMIM OMIM:113000 one_to_one +MONDO:0007220 brachydactyly type B1 http http://identifiers.org/hgnc/10257 disease_has_basis_in_dysfunction_of MONDO:0007221 brachydactyly type C DOID DOID:0110970 one_to_one MONDO:0007221 brachydactyly type C GARD GARD:0000986 one_to_one MONDO:0007221 brachydactyly type C ICD10 ICD10:Q73.8 inexact @@ -40697,15 +40943,17 @@ MONDO:0007221 brachydactyly type C MONDO MONDO:0019066 subclass MONDO:0007221 brachydactyly type C OMIM OMIM:113100 one_to_one MONDO:0007221 brachydactyly type C Orphanet Orphanet:93384 one_to_one MONDO:0007221 brachydactyly type C UMLS UMLS:C1862103 one_to_one +MONDO:0007221 brachydactyly type C http http://identifiers.org/hgnc/4220 disease_has_basis_in_dysfunction_of MONDO:0007222 brachydactyly type D DOID DOID:0110971 one_to_one MONDO:0007222 brachydactyly type D MESH MESH:C562420 one_to_one MONDO:0007222 brachydactyly type D MONDO MONDO:0019066 subclass MONDO:0007222 brachydactyly type D OMIM OMIM:113200 one_to_one +MONDO:0007222 brachydactyly type D http http://identifiers.org/hgnc/5136 disease_has_basis_in_dysfunction_of MONDO:0007223 brachydactyly type E1 DOID DOID:0110972 one_to_one MONDO:0007223 brachydactyly type E1 MESH MESH:C566194 one_to_one MONDO:0007223 brachydactyly type E1 MONDO MONDO:0019677 subclass -MONDO:0007223 brachydactyly type E1 NCBIGene NCBIGene:3239 disease_has_basis_in_dysfunction_of MONDO:0007223 brachydactyly type E1 OMIM OMIM:113300 one_to_one +MONDO:0007223 brachydactyly type E1 http http://identifiers.org/hgnc/5136 disease_has_basis_in_dysfunction_of MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 MESH MESH:C566193 one_to_one MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 MONDO MONDO:0019677 subclass MONDO:0007224 brachydactyly, type E, with atrial septal defect, type 2 OMIM OMIM:113301 one_to_one @@ -40760,6 +41008,7 @@ MONDO:0007232 autosomal dominant brachyolmia MONDO MONDO:0000426,MONDO:0015262,M MONDO:0007232 autosomal dominant brachyolmia OMIM OMIM:113500 one_to_one MONDO:0007232 autosomal dominant brachyolmia Orphanet Orphanet:93304 one_to_one MONDO:0007232 autosomal dominant brachyolmia SCTID SCTID:717264003 one_to_one +MONDO:0007232 autosomal dominant brachyolmia http http://identifiers.org/hgnc/18083 disease_has_basis_in_dysfunction_of MONDO:0007233 second branchial cleft anomaly ICD10 ICD10:Q18.0 inexact MONDO:0007233 second branchial cleft anomaly MONDO MONDO:0003847,MONDO:0015476,MONDO:0015960,MONDO:0018751 subclass MONDO:0007233 second branchial cleft anomaly NCIT NCIT:C104813 one_to_one @@ -40778,8 +41027,10 @@ MONDO:0007235 branchiooculofacial syndrome MONDO MONDO:0000426,MONDO:0015335,MON MONDO:0007235 branchiooculofacial syndrome OMIM OMIM:113620 one_to_one MONDO:0007235 branchiooculofacial syndrome Orphanet Orphanet:1297 one_to_one MONDO:0007235 branchiooculofacial syndrome SCTID SCTID:449821007 one_to_one +MONDO:0007235 branchiooculofacial syndrome http http://identifiers.org/hgnc/11742 disease_has_basis_in_dysfunction_of MONDO:0007236 branchiootorenal syndrome 1 MONDO MONDO:0007029 subclass MONDO:0007236 branchiootorenal syndrome 1 OMIM OMIM:113650 one_to_one +MONDO:0007236 branchiootorenal syndrome 1 http http://identifiers.org/hgnc/10887,http://identifiers.org/hgnc/3519 disease_has_basis_in_dysfunction_of MONDO:0007237 familial juvenile hypertrophy of the breast ICD10 ICD10:N62 inexact MONDO:0007237 familial juvenile hypertrophy of the breast MESH MESH:C536821 one_to_one MONDO:0007237 familial juvenile hypertrophy of the breast MONDO MONDO:0003847,MONDO:0015852,MONDO:0015980 subclass @@ -40801,6 +41052,7 @@ MONDO:0007239 epidermolytic hyperkeratosis NCIT NCIT:C62569 one_to_one MONDO:0007239 epidermolytic hyperkeratosis OMIM OMIM:113800 one_to_one MONDO:0007239 epidermolytic hyperkeratosis Orphanet Orphanet:312 one_to_one MONDO:0007239 epidermolytic hyperkeratosis SCTID SCTID:254167000 one_to_one +MONDO:0007239 epidermolytic hyperkeratosis http http://identifiers.org/hgnc/6412,http://identifiers.org/hgnc/6413 disease_has_basis_in_dysfunction_of MONDO:0007240 progressive familial heart block, type 1A COHD COHD:313791 one_to_one MONDO:0007240 progressive familial heart block, type 1A DOID DOID:0111074 one_to_one MONDO:0007240 progressive familial heart block, type 1A EFO EFO:0004138 one_to_one @@ -40809,6 +41061,7 @@ MONDO:0007240 progressive familial heart block, type 1A MESH MESH:D002037 one_to MONDO:0007240 progressive familial heart block, type 1A MONDO MONDO:0005449,MONDO:0019490 subclass MONDO:0007240 progressive familial heart block, type 1A NCIT NCIT:C126651 one_to_one MONDO:0007240 progressive familial heart block, type 1A OMIM OMIM:113900 one_to_one +MONDO:0007240 progressive familial heart block, type 1A http http://identifiers.org/hgnc/10593 disease_has_basis_in_dysfunction_of MONDO:0007241 bundle branch block, familial isolated complete right MESH MESH:C562759 one_to_one MONDO:0007241 bundle branch block, familial isolated complete right MONDO MONDO:0001662,MONDO:0003847 subclass MONDO:0007241 bundle branch block, familial isolated complete right OMIM OMIM:113950 one_to_one @@ -40829,9 +41082,11 @@ MONDO:0007243 Burkitts lymphoma MedDRA MedDRA:10006595,MedDRA:10053518,MedDRA:10 MONDO:0007243 Burkitts lymphoma NCIT NCIT:C36024,NCIT:C38655,NCIT:C50764 has_finding MONDO:0007243 Burkitts lymphoma NCIT NCIT:C2912 one_to_one MONDO:0007243 Burkitts lymphoma OMIM OMIM:113970 one_to_one +MONDO:0007243 Burkitts lymphoma ONCOTREE ONCOTREE:BL one_to_one MONDO:0007243 Burkitts lymphoma Orphanet Orphanet:543 one_to_one MONDO:0007243 Burkitts lymphoma SCTID SCTID:118617000 one_to_one MONDO:0007243 Burkitts lymphoma UMLS UMLS:C0006413 one_to_one +MONDO:0007243 Burkitts lymphoma http http://identifiers.org/hgnc/7553 disease_has_basis_in_dysfunction_of MONDO:0007244 Caffey disease DOID DOID:4257 one_to_one MONDO:0007244 Caffey disease GARD GARD:0001051 one_to_one MONDO:0007244 Caffey disease HP HP:0000737 disease_has_feature @@ -40844,6 +41099,7 @@ MONDO:0007244 Caffey disease OMIM OMIM:114000 one_to_one MONDO:0007244 Caffey disease Orphanet Orphanet:1310 one_to_one MONDO:0007244 Caffey disease SCTID SCTID:24752008 one_to_one MONDO:0007244 Caffey disease UMLS UMLS:C0020497 one_to_one +MONDO:0007244 Caffey disease http http://identifiers.org/hgnc/2197 disease_has_basis_in_dysfunction_of MONDO:0007245 neurofibromatosis type 6 GARD GARD:0001050,GARD:0003967 inexact MONDO:0007245 neurofibromatosis type 6 ICD10 ICD10:L81.3 one_to_one MONDO:0007245 neurofibromatosis type 6 MESH MESH:C537421 one_to_one @@ -40891,6 +41147,7 @@ MONDO:0007251 campomelic dysplasia OMIM OMIM:114290 one_to_one MONDO:0007251 campomelic dysplasia Orphanet Orphanet:140 one_to_one MONDO:0007251 campomelic dysplasia SCTID SCTID:74928006 one_to_one MONDO:0007251 campomelic dysplasia UMLS UMLS:C1861922,UMLS:C1861923 inexact +MONDO:0007251 campomelic dysplasia http http://identifiers.org/hgnc/11204 disease_has_basis_in_dysfunction_of MONDO:0007252 Gordon syndrome GARD GARD:0002553 one_to_one MONDO:0007252 Gordon syndrome ICD10 ICD10:Q68.8 inexact MONDO:0007252 Gordon syndrome ICD9 ICD9:579.8 inexact @@ -40900,6 +41157,7 @@ MONDO:0007252 Gordon syndrome OMIM OMIM:114300 one_to_one MONDO:0007252 Gordon syndrome Orphanet Orphanet:376 one_to_one MONDO:0007252 Gordon syndrome SCTID SCTID:237850008 one_to_one MONDO:0007252 Gordon syndrome UMLS UMLS:C0220666 one_to_one +MONDO:0007252 Gordon syndrome http http://identifiers.org/hgnc/26270 disease_has_basis_in_dysfunction_of MONDO:0007253 cancer, familial, with 1N vitro Radioresistance MESH MESH:C566179 one_to_one MONDO:0007253 cancer, familial, with 1N vitro Radioresistance MONDO MONDO:0003847 subclass MONDO:0007253 cancer, familial, with 1N vitro Radioresistance OMIM OMIM:114450 one_to_one @@ -40923,7 +41181,9 @@ MONDO:0007256 hepatocellular carcinoma MedDRA MedDRA:10049010 one_to_one MONDO:0007256 hepatocellular carcinoma NCIT NCIT:C26682,NCIT:C26943,NCIT:C26947,NCIT:C26948,NCIT:C2885,NCIT:C3038,NCIT:C3100,NCIT:C3143,NCIT:C3384,NCIT:C3445,NCIT:C35282,NCIT:C35381,NCIT:C36660,NCIT:C36662,NCIT:C36663,NCIT:C36666,NCIT:C3832 has_finding MONDO:0007256 hepatocellular carcinoma NCIT NCIT:C3099 one_to_one MONDO:0007256 hepatocellular carcinoma OMIM OMIM:114550 one_to_one +MONDO:0007256 hepatocellular carcinoma ONCOTREE ONCOTREE:HCC one_to_one MONDO:0007256 hepatocellular carcinoma Orphanet Orphanet:88673 one_to_one +MONDO:0007256 hepatocellular carcinoma http http://identifiers.org/hgnc/11998,http://identifiers.org/hgnc/1509,http://identifiers.org/hgnc/2514,http://identifiers.org/hgnc/5467,http://identifiers.org/hgnc/583,http://identifiers.org/hgnc/7029,http://identifiers.org/hgnc/8805,http://identifiers.org/hgnc/8975,http://identifiers.org/hgnc/903 disease_has_basis_in_dysfunction_of MONDO:0007257 CANDF1 MESH MESH:C567779 one_to_one MONDO:0007257 CANDF1 MONDO MONDO:0024486 subclass MONDO:0007257 CANDF1 OMIM OMIM:114580 one_to_one @@ -40956,38 +41216,43 @@ MONDO:0007264 sudden cardiac arrest MONDO MONDO:0007263 subclass MONDO:0007264 sudden cardiac arrest NCIT NCIT:C78245 one_to_one MONDO:0007264 sudden cardiac arrest OMIM OMIM:115080 one_to_one MONDO:0007264 sudden cardiac arrest SCTID SCTID:95281009 one_to_one +MONDO:0007264 sudden cardiac arrest http http://identifiers.org/hgnc/368 disease_has_basis_in_dysfunction_of MONDO:0007265 cardiofaciocutaneous syndrome 1 MONDO MONDO:0015280 subclass MONDO:0007265 cardiofaciocutaneous syndrome 1 OMIM OMIM:115150 one_to_one MONDO:0007265 cardiofaciocutaneous syndrome 1 UMLS UMLS:CN029449 one_to_one +MONDO:0007265 cardiofaciocutaneous syndrome 1 http http://identifiers.org/hgnc/1097 disease_has_basis_in_dysfunction_of MONDO:0007266 hypertrophic cardiomyopathy 2 DOID DOID:0110308 one_to_one MONDO:0007266 hypertrophic cardiomyopathy 2 MESH MESH:C566171 one_to_one MONDO:0007266 hypertrophic cardiomyopathy 2 MONDO MONDO:0005045,MONDO:0024573 subclass -MONDO:0007266 hypertrophic cardiomyopathy 2 NCBIGene NCBIGene:7139 disease_has_basis_in_dysfunction_of MONDO:0007266 hypertrophic cardiomyopathy 2 NCIT NCIT:C142892 one_to_one MONDO:0007266 hypertrophic cardiomyopathy 2 OMIM OMIM:115195 one_to_one MONDO:0007266 hypertrophic cardiomyopathy 2 UMLS UMLS:C1861864 one_to_one +MONDO:0007266 hypertrophic cardiomyopathy 2 http http://identifiers.org/hgnc/11949 disease_has_basis_in_dysfunction_of MONDO:0007267 hypertrophic cardiomyopathy 3 DOID DOID:0110309 one_to_one MONDO:0007267 hypertrophic cardiomyopathy 3 MESH MESH:C566170 one_to_one MONDO:0007267 hypertrophic cardiomyopathy 3 MONDO MONDO:0005045,MONDO:0024573 subclass -MONDO:0007267 hypertrophic cardiomyopathy 3 NCBIGene NCBIGene:7168 disease_has_basis_in_dysfunction_of MONDO:0007267 hypertrophic cardiomyopathy 3 OMIM OMIM:115196 one_to_one MONDO:0007267 hypertrophic cardiomyopathy 3 UMLS UMLS:C1861863 one_to_one +MONDO:0007267 hypertrophic cardiomyopathy 3 http http://identifiers.org/hgnc/12010 disease_has_basis_in_dysfunction_of MONDO:0007268 hypertrophic cardiomyopathy 4 DOID DOID:0110310 one_to_one MONDO:0007268 hypertrophic cardiomyopathy 4 MESH MESH:C566169 one_to_one -MONDO:0007268 hypertrophic cardiomyopathy 4 MONDO MONDO:0024573 subclass +MONDO:0007268 hypertrophic cardiomyopathy 4 MONDO MONDO:0005045,MONDO:0024573 subclass MONDO:0007268 hypertrophic cardiomyopathy 4 NCIT NCIT:C133725 one_to_one MONDO:0007268 hypertrophic cardiomyopathy 4 OMIM OMIM:115197 one_to_one MONDO:0007268 hypertrophic cardiomyopathy 4 UMLS UMLS:C1861862 one_to_one +MONDO:0007268 hypertrophic cardiomyopathy 4 http http://identifiers.org/hgnc/7551 disease_has_basis_in_dysfunction_of MONDO:0007269 dilated cardiomyopathy 1A DOID DOID:0110425 one_to_one MONDO:0007269 dilated cardiomyopathy 1A ICD10 ICD10:I42.0 inexact MONDO:0007269 dilated cardiomyopathy 1A MONDO MONDO:0015470 subclass MONDO:0007269 dilated cardiomyopathy 1A OMIM OMIM:115200 one_to_one MONDO:0007269 dilated cardiomyopathy 1A Orphanet Orphanet:300751 one_to_one MONDO:0007269 dilated cardiomyopathy 1A UMLS UMLS:C1449563 one_to_one +MONDO:0007269 dilated cardiomyopathy 1A http http://identifiers.org/hgnc/6636 disease_has_basis_in_dysfunction_of MONDO:0007270 cardiomyopathy, familial restrictive, 1 MESH MESH:C566168 one_to_one MONDO:0007270 cardiomyopathy, familial restrictive, 1 MONDO MONDO:0019150 subclass MONDO:0007270 cardiomyopathy, familial restrictive, 1 OMIM OMIM:115210 one_to_one MONDO:0007270 cardiomyopathy, familial restrictive, 1 UMLS UMLS:C1861861 one_to_one +MONDO:0007270 cardiomyopathy, familial restrictive, 1 http http://identifiers.org/hgnc/11947 disease_has_basis_in_dysfunction_of MONDO:0007271 familial cutaneous collagenoma GARD GARD:0009799 one_to_one MONDO:0007271 familial cutaneous collagenoma ICD10 ICD10:L94.8 one_to_one MONDO:0007271 familial cutaneous collagenoma MESH MESH:C562925 one_to_one @@ -41001,10 +41266,12 @@ MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency MESH MESH:C56 MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency MONDO MONDO:0017760 subclass MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency OMIM OMIM:115300 one_to_one MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency Orphanet Orphanet:199285 one_to_one +MONDO:0007272 hereditary hypercarotenemia and vitamin A deficiency http http://identifiers.org/hgnc/13815 disease_has_basis_in_dysfunction_of MONDO:0007273 paragangliomas 4 GARD GARD:0010546 one_to_one MONDO:0007273 paragangliomas 4 MONDO MONDO:0000448,MONDO:0002095,MONDO:0002367,MONDO:0002817,MONDO:0017366,MONDO:0018557,MONDO:0021089,MONDO:0043218 subclass MONDO:0007273 paragangliomas 4 OMIM OMIM:115310 one_to_one MONDO:0007273 paragangliomas 4 UMLS UMLS:C1861848 one_to_one +MONDO:0007273 paragangliomas 4 http http://identifiers.org/hgnc/10681 disease_has_basis_in_dysfunction_of MONDO:0007274 carpal displacement MONDO MONDO:0003847 subclass MONDO:0007274 carpal displacement OMIM OMIM:115400 one_to_one MONDO:0007274 carpal displacement UMLS UMLS:C1861847 one_to_one @@ -41019,6 +41286,7 @@ 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 MONDO:0007275 carpal tunnel syndrome UMLS UMLS:C0007286 one_to_one +MONDO:0007275 carpal tunnel syndrome http http://identifiers.org/hgnc/12405 disease_has_basis_in_dysfunction_of MONDO:0007276 cat-eye syndrome GARD GARD:0000026 one_to_one MONDO:0007276 cat-eye syndrome ICD10 ICD10:Q92.8 one_to_one MONDO:0007276 cat-eye syndrome MESH MESH:C535918 one_to_one @@ -41028,6 +41296,7 @@ MONDO:0007276 cat-eye syndrome OMIM OMIM:115470 one_to_one MONDO:0007276 cat-eye syndrome Orphanet Orphanet:195 one_to_one MONDO:0007276 cat-eye syndrome SCTID SCTID:26445008 one_to_one MONDO:0007276 cat-eye syndrome UMLS UMLS:C0265493 one_to_one +MONDO:0007276 cat-eye syndrome http http://identifiers.org/hgnc/1838 disease_has_basis_in_dysfunction_of MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome GARD GARD:0005554 one_to_one MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007277 cataract-aberrant oral frenula-growth delay syndrome MESH MESH:C536691 one_to_one @@ -41055,6 +41324,7 @@ MONDO:0007281 cataract 4 multiple types ICD10 ICD10:Q12.0 inexact MONDO:0007281 cataract 4 multiple types MONDO MONDO:0011060,MONDO:0015300 excluded_subClassOf MONDO:0007281 cataract 4 multiple types MONDO MONDO:0005129 subclass MONDO:0007281 cataract 4 multiple types OMIM OMIM:115700 one_to_one +MONDO:0007281 cataract 4 multiple types http http://identifiers.org/hgnc/2411 disease_has_basis_in_dysfunction_of MONDO:0007282 cataract 29 DOID DOID:0110232 one_to_one MONDO:0007282 cataract 29 ICD10 ICD10:Q12.0 inexact MONDO:0007282 cataract 29 MONDO MONDO:0020375 subclass @@ -41065,10 +41335,12 @@ MONDO:0007283 cataract 42 ICD10 ICD10:Q12.0 inexact MONDO:0007283 cataract 42 MONDO MONDO:0011060 subclass MONDO:0007283 cataract 42 OMIM OMIM:115900 one_to_one MONDO:0007283 cataract 42 UMLS UMLS:C4011454 one_to_one +MONDO:0007283 cataract 42 http http://identifiers.org/hgnc/2395 disease_has_basis_in_dysfunction_of MONDO:0007284 cataract 20 multiple types DOID DOID:0110240 one_to_one MONDO:0007284 cataract 20 multiple types ICD10 ICD10:Q12.0 inexact -MONDO:0007284 cataract 20 multiple types MONDO MONDO:0011060 subclass +MONDO:0007284 cataract 20 multiple types MONDO MONDO:0005129,MONDO:0011060 subclass MONDO:0007284 cataract 20 multiple types OMIM OMIM:116100 one_to_one +MONDO:0007284 cataract 20 multiple types http http://identifiers.org/hgnc/2417 disease_has_basis_in_dysfunction_of MONDO:0007285 cataract 1 multiple types DOID DOID:0110231 one_to_one MONDO:0007285 cataract 1 multiple types ICD10 ICD10:Q12.0 inexact MONDO:0007285 cataract 1 multiple types MESH MESH:C566158 one_to_one @@ -41076,32 +41348,38 @@ MONDO:0007285 cataract 1 multiple types MONDO MONDO:0011060,MONDO:0015300 exclud MONDO:0007285 cataract 1 multiple types MONDO MONDO:0005129 subclass MONDO:0007285 cataract 1 multiple types OMIM OMIM:116200 one_to_one MONDO:0007285 cataract 1 multiple types UMLS UMLS:C1861828 one_to_one +MONDO:0007285 cataract 1 multiple types http http://identifiers.org/hgnc/4281 disease_has_basis_in_dysfunction_of MONDO:0007286 cataract 30 DOID DOID:0110248 one_to_one MONDO:0007286 cataract 30 ICD10 ICD10:Q12.0 inexact MONDO:0007286 cataract 30 MESH MESH:C566157 one_to_one -MONDO:0007286 cataract 30 MONDO MONDO:0011430,MONDO:0020377 subclass +MONDO:0007286 cataract 30 MONDO MONDO:0011060,MONDO:0011430,MONDO:0020377 subclass MONDO:0007286 cataract 30 OMIM OMIM:116300 one_to_one MONDO:0007286 cataract 30 UMLS UMLS:C3805411 one_to_one +MONDO:0007286 cataract 30 http http://identifiers.org/hgnc/12692 disease_has_basis_in_dysfunction_of MONDO:0007287 cataract 41 DOID DOID:0110241 one_to_one MONDO:0007287 cataract 41 ICD10 ICD10:Q12.0 inexact -MONDO:0007287 cataract 41 MONDO MONDO:0020376 subclass +MONDO:0007287 cataract 41 MONDO MONDO:0011060,MONDO:0020376 subclass MONDO:0007287 cataract 41 OMIM OMIM:116400 one_to_one MONDO:0007287 cataract 41 UMLS UMLS:C3805412 one_to_one +MONDO:0007287 cataract 41 http http://identifiers.org/hgnc/12762 disease_has_basis_in_dysfunction_of MONDO:0007288 cataract 6 multiple types DOID DOID:0110229 one_to_one MONDO:0007288 cataract 6 multiple types GARD GARD:0010234 one_to_one MONDO:0007288 cataract 6 multiple types ICD10 ICD10:Q12.0 inexact -MONDO:0007288 cataract 6 multiple types MONDO MONDO:0011060 subclass +MONDO:0007288 cataract 6 multiple types MONDO MONDO:0005129,MONDO:0011060 subclass MONDO:0007288 cataract 6 multiple types OMIM OMIM:116600 one_to_one +MONDO:0007288 cataract 6 multiple types http http://identifiers.org/hgnc/3386 disease_has_basis_in_dysfunction_of MONDO:0007289 cataract 13 with adult I phenotype DOID DOID:0110242 one_to_one MONDO:0007289 cataract 13 with adult I phenotype ICD10 ICD10:Q12.0 inexact MONDO:0007289 cataract 13 with adult I phenotype MONDO MONDO:0011060 subclass MONDO:0007289 cataract 13 with adult I phenotype OMIM OMIM:116700 one_to_one MONDO:0007289 cataract 13 with adult I phenotype UMLS UMLS:C3805373 one_to_one +MONDO:0007289 cataract 13 with adult I phenotype http http://identifiers.org/hgnc/4204 disease_has_basis_in_dysfunction_of MONDO:0007290 cataract 5 multiple types DOID DOID:0110255 one_to_one MONDO:0007290 cataract 5 multiple types ICD10 ICD10:Q12.0 inexact MONDO:0007290 cataract 5 multiple types MESH MESH:C535342 one_to_one -MONDO:0007290 cataract 5 multiple types MONDO MONDO:0011060 subclass +MONDO:0007290 cataract 5 multiple types MONDO MONDO:0005129,MONDO:0011060 subclass MONDO:0007290 cataract 5 multiple types OMIM OMIM:116800 one_to_one +MONDO:0007290 cataract 5 multiple types http http://identifiers.org/hgnc/5227 disease_has_basis_in_dysfunction_of MONDO:0007291 familial cerebral cavernous malformation ICD10 ICD10:Q28.3 inexact MONDO:0007291 familial cerebral cavernous malformation MONDO MONDO:0021152 has_modifier MONDO:0007291 familial cerebral cavernous malformation MONDO MONDO:0000820,MONDO:0003847,MONDO:0015145,MONDO:0015953,MONDO:0018730,MONDO:0043218 subclass @@ -41109,6 +41387,7 @@ MONDO:0007291 familial cerebral cavernous malformation OMIM OMIM:116860 one_to_o MONDO:0007291 familial cerebral cavernous malformation Orphanet Orphanet:221061 one_to_one MONDO:0007291 familial cerebral cavernous malformation SCTID SCTID:717003001 one_to_one MONDO:0007291 familial cerebral cavernous malformation UMLS UMLS:C2931263 one_to_one +MONDO:0007291 familial cerebral cavernous malformation http http://identifiers.org/hgnc/1573 disease_has_basis_in_dysfunction_of MONDO:0007292 celiac artery stenosis from compression by median arcuate ligament of diaphragm MESH MESH:C566151 one_to_one MONDO:0007292 celiac artery stenosis from compression by median arcuate ligament of diaphragm MONDO MONDO:0003847 subclass MONDO:0007292 celiac artery stenosis from compression by median arcuate ligament of diaphragm OMIM OMIM:116870 one_to_one @@ -41123,6 +41402,7 @@ MONDO:0007293 leukocyte adhesion deficiency 1 OMIM OMIM:116920 one_to_one MONDO:0007293 leukocyte adhesion deficiency 1 Orphanet Orphanet:99842 one_to_one MONDO:0007293 leukocyte adhesion deficiency 1 SCTID SCTID:234582006 one_to_one MONDO:0007293 leukocyte adhesion deficiency 1 UMLS UMLS:C0398738 one_to_one +MONDO:0007293 leukocyte adhesion deficiency 1 http http://identifiers.org/hgnc/6155 disease_has_basis_in_dysfunction_of MONDO:0007294 central core myopathy DOID DOID:3529 one_to_one MONDO:0007294 central core myopathy EFO EFO:1000855 one_to_one MONDO:0007294 central core myopathy GARD GARD:0006014 one_to_one @@ -41134,6 +41414,7 @@ MONDO:0007294 central core myopathy OMIM OMIM:117000 one_to_one MONDO:0007294 central core myopathy Orphanet Orphanet:597 one_to_one MONDO:0007294 central core myopathy SCTID SCTID:43152001 one_to_one MONDO:0007294 central core myopathy UMLS UMLS:C0751951 one_to_one +MONDO:0007294 central core myopathy http http://identifiers.org/hgnc/10483 disease_has_basis_in_dysfunction_of MONDO:0007295 rolandic epilepsy DOID DOID:3329 one_to_one MONDO:0007295 rolandic epilepsy GARD GARD:0010287 one_to_one MONDO:0007295 rolandic epilepsy ICD10 ICD10:G40.0 inexact @@ -41153,6 +41434,7 @@ MONDO:0007296 spinocerebellar ataxia type 31 OMIM OMIM:117210 one_to_one MONDO:0007296 spinocerebellar ataxia type 31 Orphanet Orphanet:217012 one_to_one MONDO:0007296 spinocerebellar ataxia type 31 SCTID SCTID:715826005 one_to_one MONDO:0007296 spinocerebellar ataxia type 31 UMLS UMLS:C1861736,UMLS:C4274986 inexact +MONDO:0007296 spinocerebellar ataxia type 31 http http://identifiers.org/hgnc/24160 disease_has_basis_in_dysfunction_of MONDO:0007297 ADan amyloidosis DOID DOID:0070030 one_to_one MONDO:0007297 ADan amyloidosis GARD GARD:0009169 one_to_one MONDO:0007297 ADan amyloidosis ICD10 ICD10:E85.4+,ICD10:I68.0* inexact @@ -41161,6 +41443,7 @@ MONDO:0007297 ADan amyloidosis MONDO MONDO:0005620,MONDO:0018591 subclass MONDO:0007297 ADan amyloidosis OMIM OMIM:117300 one_to_one MONDO:0007297 ADan amyloidosis Orphanet Orphanet:97346 one_to_one MONDO:0007297 ADan amyloidosis UMLS UMLS:C1861735 one_to_one +MONDO:0007297 ADan amyloidosis http http://identifiers.org/hgnc/6174 disease_has_basis_in_dysfunction_of MONDO:0007298 spinocerebellar ataxia type 29 DOID DOID:0050978 one_to_one MONDO:0007298 spinocerebellar ataxia type 29 GARD GARD:0010480 one_to_one MONDO:0007298 spinocerebellar ataxia type 29 ICD10 ICD10:G11.0 inexact @@ -41174,6 +41457,7 @@ MONDO:0007299 Sotos syndrome 1 MONDO MONDO:0019349 subclass MONDO:0007299 Sotos syndrome 1 OMIM OMIM:117550 one_to_one MONDO:0007299 Sotos syndrome 1 SCTID SCTID:75968004 one_to_one MONDO:0007299 Sotos syndrome 1 UMLS UMLS:CN035106 one_to_one +MONDO:0007299 Sotos syndrome 1 http http://identifiers.org/hgnc/14234 disease_has_basis_in_dysfunction_of MONDO:0007300 cerebral sarcoma GARD GARD:0010073 one_to_one MONDO:0007300 cerebral sarcoma MESH MESH:C537946 one_to_one MONDO:0007300 cerebral sarcoma MONDO MONDO:0002216,MONDO:0003882,MONDO:0005089 subclass @@ -41189,6 +41473,7 @@ MONDO:0007301 cerebrocostomandibular syndrome OMIM OMIM:117650 one_to_one MONDO:0007301 cerebrocostomandibular syndrome Orphanet Orphanet:1393 one_to_one MONDO:0007301 cerebrocostomandibular syndrome SCTID SCTID:51780007 one_to_one MONDO:0007301 cerebrocostomandibular syndrome UMLS UMLS:C0265342 one_to_one +MONDO:0007301 cerebrocostomandibular syndrome http http://identifiers.org/hgnc/11153 disease_has_basis_in_dysfunction_of MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis MESH MESH:C566142 one_to_one MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis MONDO MONDO:0003847 subclass MONDO:0007302 cervical hypertrichosis with underlying kyphoscoliosis OMIM OMIM:117850 one_to_one @@ -41214,14 +41499,16 @@ MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant MESH MESH:C536887 one_ MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant MONDO MONDO:0016520 subclass MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant OMIM OMIM:118100 one_to_one MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant UMLS UMLS:C1861689 one_to_one +MONDO:0007306 Klippel-Feil syndrome 1, autosomal dominant http http://identifiers.org/hgnc/4221 disease_has_basis_in_dysfunction_of MONDO:0007307 Charcot-Marie-tooth disease type 1B DOID DOID:0110152 one_to_one MONDO:0007307 Charcot-Marie-tooth disease type 1B GARD GARD:0001246 one_to_one MONDO:0007307 Charcot-Marie-tooth disease type 1B ICD10 ICD10:G60.0 inexact -MONDO:0007307 Charcot-Marie-tooth disease type 1B MONDO MONDO:0019011 subclass +MONDO:0007307 Charcot-Marie-tooth disease type 1B MONDO MONDO:0011909,MONDO:0019011 subclass MONDO:0007307 Charcot-Marie-tooth disease type 1B NCIT NCIT:C118782 one_to_one MONDO:0007307 Charcot-Marie-tooth disease type 1B OMIM OMIM:118200 one_to_one MONDO:0007307 Charcot-Marie-tooth disease type 1B Orphanet Orphanet:101082 one_to_one MONDO:0007307 Charcot-Marie-tooth disease type 1B UMLS UMLS:C0270912 one_to_one +MONDO:0007307 Charcot-Marie-tooth disease type 1B http http://identifiers.org/hgnc/7225 disease_has_basis_in_dysfunction_of MONDO:0007308 Charcot-Marie-tooth disease type 2A1 DOID DOID:0110154 one_to_one MONDO:0007308 Charcot-Marie-tooth disease type 2A1 GARD GARD:0001248 one_to_one MONDO:0007308 Charcot-Marie-tooth disease type 2A1 ICD10 ICD10:G60.0 inexact @@ -41231,6 +41518,7 @@ MONDO:0007308 Charcot-Marie-tooth disease type 2A1 NCIT NCIT:C134952 one_to_one MONDO:0007308 Charcot-Marie-tooth disease type 2A1 OMIM OMIM:118210 one_to_one MONDO:0007308 Charcot-Marie-tooth disease type 2A1 Orphanet Orphanet:99946 one_to_one MONDO:0007308 Charcot-Marie-tooth disease type 2A1 SCTID SCTID:717016001 one_to_one +MONDO:0007308 Charcot-Marie-tooth disease type 2A1 http http://identifiers.org/hgnc/16636 disease_has_basis_in_dysfunction_of 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 @@ -41239,6 +41527,7 @@ 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 MONDO:0007309 Charcot-Marie-tooth disease type 1A UMLS UMLS:C0270911 one_to_one +MONDO:0007309 Charcot-Marie-tooth disease type 1A http http://identifiers.org/hgnc/9118 disease_has_basis_in_dysfunction_of MONDO:0007310 Charcot-Marie-tooth disease, Guadalajara neuronal type MESH MESH:C566137 one_to_one MONDO:0007310 Charcot-Marie-tooth disease, Guadalajara neuronal type MONDO MONDO:0015626 subclass MONDO:0007310 Charcot-Marie-tooth disease, Guadalajara neuronal type OMIM OMIM:118230 one_to_one @@ -41251,6 +41540,7 @@ MONDO:0007311 Charcot-Marie-tooth disease type 1E MONDO MONDO:0019011,MONDO:0019 MONDO:0007311 Charcot-Marie-tooth disease type 1E OMIM OMIM:118300 one_to_one MONDO:0007311 Charcot-Marie-tooth disease type 1E Orphanet Orphanet:90658 one_to_one MONDO:0007311 Charcot-Marie-tooth disease type 1E UMLS UMLS:C2931686 one_to_one +MONDO:0007311 Charcot-Marie-tooth disease type 1E http http://identifiers.org/hgnc/9118 disease_has_basis_in_dysfunction_of MONDO:0007312 Charcot-Marie-tooth disease with ptosis and parkinsonism MESH MESH:C538079 one_to_one MONDO:0007312 Charcot-Marie-tooth disease with ptosis and parkinsonism MONDO MONDO:0003847 subclass MONDO:0007312 Charcot-Marie-tooth disease with ptosis and parkinsonism OMIM OMIM:118301 one_to_one @@ -41280,6 +41570,7 @@ MONDO:0007315 cherubism OMIM OMIM:118400 one_to_one MONDO:0007315 cherubism Orphanet Orphanet:184 one_to_one MONDO:0007315 cherubism SCTID SCTID:76098004 one_to_one MONDO:0007315 cherubism UMLS UMLS:C0008029 one_to_one +MONDO:0007315 cherubism http http://identifiers.org/hgnc/10825 disease_has_basis_in_dysfunction_of MONDO:0007316 Chiari malformation type I ICD10 ICD10:G95.0 inexact MONDO:0007316 Chiari malformation type I MONDO MONDO:0000115,MONDO:0017085 subclass MONDO:0007316 Chiari malformation type I MedDRA MedDRA:10056944 one_to_one @@ -41307,6 +41598,7 @@ MONDO:0007319 familial calcium pyrophosphate deposition MESH MESH:C563162 one_to MONDO:0007319 familial calcium pyrophosphate deposition MONDO MONDO:0001314,MONDO:0015940,MONDO:0015958,MONDO:0017133,MONDO:0019052 subclass MONDO:0007319 familial calcium pyrophosphate deposition OMIM OMIM:118600 one_to_one MONDO:0007319 familial calcium pyrophosphate deposition Orphanet Orphanet:1416 one_to_one +MONDO:0007319 familial calcium pyrophosphate deposition http http://identifiers.org/hgnc/15492 disease_has_basis_in_dysfunction_of MONDO:0007320 chondrocalcinosis due to apatite crystal deposition GARD GARD:0010139 one_to_one MONDO:0007320 chondrocalcinosis due to apatite crystal deposition MESH MESH:C535939 one_to_one MONDO:0007320 chondrocalcinosis due to apatite crystal deposition MONDO MONDO:0001314 subclass @@ -41346,6 +41638,7 @@ MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 MONDO MONDO:0015427 subclas MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 MedDRA MedDRA:10065657,MedDRA:10065658 inexact MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 OMIM OMIM:118800 one_to_one MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 Orphanet Orphanet:98810 one_to_one +MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 http http://identifiers.org/hgnc/9153 disease_has_basis_in_dysfunction_of MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase MESH MESH:C566126 one_to_one MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase MONDO MONDO:0018637 subclass MONDO:0007327 chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase OMIM OMIM:118830 one_to_one @@ -41372,12 +41665,14 @@ MONDO:0007332 SHFLD1 MONDO MONDO:0018050 subclass MONDO:0007332 SHFLD1 OMIM OMIM:119100 one_to_one MONDO:0007333 van der Woude syndrome 1 MONDO MONDO:0019508 subclass MONDO:0007333 van der Woude syndrome 1 OMIM OMIM:119300 one_to_one +MONDO:0007333 van der Woude syndrome 1 http http://identifiers.org/hgnc/6121 disease_has_basis_in_dysfunction_of MONDO:0007334 autosomal dominant popliteal pterygium syndrome GARD GARD:0003242 one_to_one MONDO:0007334 autosomal dominant popliteal pterygium syndrome HP HP:0000006 has_modifier MONDO:0007334 autosomal dominant popliteal pterygium syndrome ICD10 ICD10:Q87.2 inexact MONDO:0007334 autosomal dominant popliteal pterygium syndrome MONDO MONDO:0000426,MONDO:0015218,MONDO:0015958,MONDO:0017435,MONDO:0020156,MONDO:0043007 subclass MONDO:0007334 autosomal dominant popliteal pterygium syndrome OMIM OMIM:119500 one_to_one 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 NCIT NCIT:C124838 one_to_one @@ -41390,6 +41685,7 @@ MONDO:0007336 isolated cleft palate MONDO MONDO:0021128 has_modifier MONDO:0007336 isolated cleft palate MONDO MONDO:0015958,MONDO:0015960,MONDO:0016064 subclass MONDO:0007336 isolated cleft palate OMIM OMIM:119540 one_to_one MONDO:0007336 isolated cleft palate UMLS UMLS:CN234898 one_to_one +MONDO:0007336 isolated cleft palate http http://identifiers.org/hgnc/12463 disease_has_basis_in_dysfunction_of MONDO:0007337 cleft palate-lateral synechia syndrome GARD GARD:0001391 one_to_one MONDO:0007337 cleft palate-lateral synechia syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007337 cleft palate-lateral synechia syndrome ICD9 ICD9:759.89 inexact @@ -41415,6 +41711,7 @@ MONDO:0007339 blepharo-cheilo-odontic syndrome OMIMPS OMIMPS:119580 one_to_one MONDO:0007339 blepharo-cheilo-odontic syndrome Orphanet Orphanet:1997 one_to_one MONDO:0007339 blepharo-cheilo-odontic syndrome SCTID SCTID:717911008 one_to_one MONDO:0007339 blepharo-cheilo-odontic syndrome UMLS UMLS:C1861536 one_to_one +MONDO:0007339 blepharo-cheilo-odontic syndrome http http://identifiers.org/hgnc/1748 disease_has_basis_in_dysfunction_of MONDO:0007340 cleidocranial dysplasia DOID DOID:13994 one_to_one MONDO:0007340 cleidocranial dysplasia GARD GARD:0006118 one_to_one MONDO:0007340 cleidocranial dysplasia ICD10 ICD10:Q74.0 inexact @@ -41426,6 +41723,7 @@ MONDO:0007340 cleidocranial dysplasia OMIM OMIM:119600 one_to_one MONDO:0007340 cleidocranial dysplasia Orphanet Orphanet:1452 one_to_one MONDO:0007340 cleidocranial dysplasia SCTID SCTID:65976001 one_to_one MONDO:0007340 cleidocranial dysplasia UMLS UMLS:C0008928 one_to_one +MONDO:0007340 cleidocranial dysplasia http http://identifiers.org/hgnc/10472 disease_has_basis_in_dysfunction_of MONDO:0007341 cleidorhizomelic syndrome GARD GARD:0005532 one_to_one MONDO:0007341 cleidorhizomelic syndrome ICD10 ICD10:Q77.8 inexact MONDO:0007341 cleidorhizomelic syndrome MESH MESH:C536428 one_to_one @@ -41442,10 +41740,12 @@ MONDO:0007342 clubfoot MONDO MONDO:0016046 subclass MONDO:0007342 clubfoot NCIT NCIT:C84641 one_to_one MONDO:0007342 clubfoot OMIM OMIM:119800 one_to_one MONDO:0007342 clubfoot SCTID SCTID:397932003 one_to_one +MONDO:0007342 clubfoot http http://identifiers.org/hgnc/9004 disease_has_basis_in_dysfunction_of MONDO:0007343 isolated congenital digital clubbing ICD10 ICD10:Q68.1 inexact MONDO:0007343 isolated congenital digital clubbing MONDO MONDO:0017429,MONDO:0019284 subclass MONDO:0007343 isolated congenital digital clubbing OMIM OMIM:119900 one_to_one MONDO:0007343 isolated congenital digital clubbing Orphanet Orphanet:217059 one_to_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 @@ -41476,12 +41776,13 @@ MONDO:0007347 CXB3S OMIM OMIM:120050 one_to_one MONDO:0007348 colchicine resistance MONDO MONDO:0003847 subclass MONDO:0007348 colchicine resistance OMIM OMIM:120080 one_to_one MONDO:0007348 colchicine resistance UMLS UMLS:C1861502 one_to_one +MONDO:0007348 colchicine resistance http http://identifiers.org/hgnc/40 disease_has_basis_in_dysfunction_of MONDO:0007349 familial cold autoinflammatory syndrome 1 DOID DOID:0090062 one_to_one MONDO:0007349 familial cold autoinflammatory syndrome 1 ICD10 ICD10:L50.2 inexact MONDO:0007349 familial cold autoinflammatory syndrome 1 MONDO MONDO:0018768 subclass -MONDO:0007349 familial cold autoinflammatory syndrome 1 NCBIGene NCBIGene:114548 disease_has_basis_in_dysfunction_of MONDO:0007349 familial cold autoinflammatory syndrome 1 OMIM OMIM:120100 one_to_one MONDO:0007349 familial cold autoinflammatory syndrome 1 SCTID SCTID:238687000 one_to_one +MONDO:0007349 familial cold autoinflammatory syndrome 1 http http://identifiers.org/hgnc/16400 disease_has_basis_in_dysfunction_of MONDO:0007350 coloboma, ocular, autosomal dominant MONDO MONDO:0016023 subclass MONDO:0007350 coloboma, ocular, autosomal dominant OMIM OMIM:120200 one_to_one MONDO:0007351 coloboma of macula GARD GARD:0001436 one_to_one @@ -41500,6 +41801,7 @@ MONDO:0007352 renal coloboma syndrome OMIM OMIM:120330 one_to_one MONDO:0007352 renal coloboma syndrome Orphanet Orphanet:1475 one_to_one MONDO:0007352 renal coloboma syndrome SCTID SCTID:446449009 one_to_one MONDO:0007352 renal coloboma syndrome UMLS UMLS:C1852759 one_to_one +MONDO:0007352 renal coloboma syndrome http http://identifiers.org/hgnc/8616 disease_has_basis_in_dysfunction_of MONDO:0007353 coloboma of macula-brachydactyly type B syndrome GARD GARD:0001437 one_to_one MONDO:0007353 coloboma of macula-brachydactyly type B syndrome ICD10 ICD10:Q87.1 inexact MONDO:0007353 coloboma of macula-brachydactyly type B syndrome MESH MESH:C535969 one_to_one @@ -41517,15 +41819,18 @@ 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) 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 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 +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability http http://identifiers.org/hgnc/16262 disease_has_basis_in_dysfunction_of MONDO:0007356 Lynch syndrome 1 MONDO MONDO:0005835 subclass MONDO:0007356 Lynch syndrome 1 NCIT NCIT:C6725 one_to_one MONDO:0007356 Lynch syndrome 1 OMIM OMIM:120435 one_to_one +MONDO:0007356 Lynch syndrome 1 http http://identifiers.org/hgnc/7325,http://identifiers.org/hgnc/9121 disease_has_basis_in_dysfunction_of MONDO:0007357 colonic varices without portal hypertension MESH MESH:C565172 one_to_one MONDO:0007357 colonic varices without portal hypertension MONDO MONDO:0003847 subclass MONDO:0007357 colonic varices without portal hypertension OMIM OMIM:120440 one_to_one @@ -41550,14 +41855,15 @@ MONDO:0007361 C1 inhibitor deficiency MONDO MONDO:0000015,MONDO:0018727 subclass MONDO:0007361 C1 inhibitor deficiency OMIM OMIM:120790 one_to_one MONDO:0007361 C1 inhibitor deficiency Orphanet Orphanet:459353 one_to_one MONDO:0007361 C1 inhibitor deficiency UMLS UMLS:C1852700 one_to_one +MONDO:0007361 C1 inhibitor deficiency http http://identifiers.org/hgnc/1228 disease_has_basis_in_dysfunction_of MONDO:0007362 cone-rod dystrophy 2 DOID DOID:0111005 one_to_one MONDO:0007362 cone-rod dystrophy 2 GARD GARD:0006145 one_to_one MONDO:0007362 cone-rod dystrophy 2 ICD9 ICD9:362.75 inexact MONDO:0007362 cone-rod dystrophy 2 MONDO MONDO:0015993,MONDO:0019200 subclass -MONDO:0007362 cone-rod dystrophy 2 NCBIGene NCBIGene:1406 disease_has_basis_in_dysfunction_of MONDO:0007362 cone-rod dystrophy 2 OMIM OMIM:120970 one_to_one MONDO:0007362 cone-rod dystrophy 2 SCTID SCTID:80328002 one_to_one MONDO:0007362 cone-rod dystrophy 2 UMLS UMLS:CN074280 one_to_one +MONDO:0007362 cone-rod dystrophy 2 http http://identifiers.org/hgnc/2383 disease_has_basis_in_dysfunction_of MONDO:0007363 congenital contractural arachnodactyly GARD GARD:0005899 one_to_one MONDO:0007363 congenital contractural arachnodactyly ICD10 ICD10:Q68.8 inexact MONDO:0007363 congenital contractural arachnodactyly ICD9 ICD9:759.89 inexact @@ -41568,6 +41874,7 @@ MONDO:0007363 congenital contractural arachnodactyly OMIM OMIM:121050 one_to_one MONDO:0007363 congenital contractural arachnodactyly Orphanet Orphanet:115 one_to_one MONDO:0007363 congenital contractural arachnodactyly SCTID SCTID:205821003 one_to_one MONDO:0007363 congenital contractural arachnodactyly UMLS UMLS:C0220668 one_to_one +MONDO:0007363 congenital contractural arachnodactyly http http://identifiers.org/hgnc/3604 disease_has_basis_in_dysfunction_of MONDO:0007364 arthrogryposis, distal, type 2E MESH MESH:C535384 one_to_one MONDO:0007364 arthrogryposis, distal, type 2E MONDO MONDO:0019942 subclass MONDO:0007364 arthrogryposis, distal, type 2E OMIM OMIM:121070 one_to_one @@ -41576,9 +41883,11 @@ MONDO:0007365 seizures, benign familial neonatal, 1 MESH MESH:C567743 one_to_one MONDO:0007365 seizures, benign familial neonatal, 1 MONDO MONDO:0016027 subclass MONDO:0007365 seizures, benign familial neonatal, 1 OMIM OMIM:121200 one_to_one MONDO:0007365 seizures, benign familial neonatal, 1 UMLS UMLS:C3149074 one_to_one +MONDO:0007365 seizures, benign familial neonatal, 1 http http://identifiers.org/hgnc/6296 disease_has_basis_in_dysfunction_of MONDO:0007366 seizures, benign familial neonatal, 2 MONDO MONDO:0016027 subclass MONDO:0007366 seizures, benign familial neonatal, 2 OMIM OMIM:121201 one_to_one MONDO:0007366 seizures, benign familial neonatal, 2 UMLS UMLS:C1852581 one_to_one +MONDO:0007366 seizures, benign familial neonatal, 2 http http://identifiers.org/hgnc/6297 disease_has_basis_in_dysfunction_of MONDO:0007367 FEB1 ICD9 ICD9:780.39 inexact MONDO:0007367 FEB1 MESH MESH:C565162 one_to_one MONDO:0007367 FEB1 MONDO MONDO:0000032 subclass @@ -41603,6 +41912,7 @@ MONDO:0007369 hereditary coproporphyria OMIM OMIM:121300 one_to_one MONDO:0007369 hereditary coproporphyria Orphanet Orphanet:79273 one_to_one MONDO:0007369 hereditary coproporphyria SCTID SCTID:7425008 one_to_one MONDO:0007369 hereditary coproporphyria UMLS UMLS:C0162531 one_to_one +MONDO:0007369 hereditary coproporphyria http http://identifiers.org/hgnc/2321 disease_has_basis_in_dysfunction_of MONDO:0007370 coracoclavicular joint, anomalous MESH MESH:C565161 one_to_one MONDO:0007370 coracoclavicular joint, anomalous MONDO MONDO:0003847 subclass MONDO:0007370 coracoclavicular joint, anomalous OMIM OMIM:121350 one_to_one @@ -41626,6 +41936,7 @@ MONDO:0007374 Schnyder corneal dystrophy MESH MESH:C535475 one_to_one MONDO:0007374 Schnyder corneal dystrophy MONDO MONDO:0020213 subclass MONDO:0007374 Schnyder corneal dystrophy OMIM OMIM:121800 one_to_one MONDO:0007374 Schnyder corneal dystrophy Orphanet Orphanet:98967 one_to_one +MONDO:0007374 Schnyder corneal dystrophy http http://identifiers.org/hgnc/30791 disease_has_basis_in_dysfunction_of MONDO:0007375 epithelial basement membrane dystrophy DOID DOID:0060447 one_to_one MONDO:0007375 epithelial basement membrane dystrophy GARD GARD:0009732 one_to_one MONDO:0007375 epithelial basement membrane dystrophy ICD10 ICD10:H18.5 inexact @@ -41634,6 +41945,7 @@ MONDO:0007375 epithelial basement membrane dystrophy MONDO MONDO:0000763,MONDO:0 MONDO:0007375 epithelial basement membrane dystrophy OMIM OMIM:121820 one_to_one MONDO:0007375 epithelial basement membrane dystrophy Orphanet Orphanet:98956 one_to_one MONDO:0007375 epithelial basement membrane dystrophy SCTID SCTID:373426005 one_to_one +MONDO:0007375 epithelial basement membrane dystrophy http http://identifiers.org/hgnc/11771 disease_has_basis_in_dysfunction_of MONDO:0007376 fleck corneal dystrophy DOID DOID:0060448 one_to_one MONDO:0007376 fleck corneal dystrophy ICD10 ICD10:H18.5 inexact MONDO:0007376 fleck corneal dystrophy ICD9 ICD9:371.56 inexact @@ -41643,6 +41955,7 @@ MONDO:0007376 fleck corneal dystrophy OMIM OMIM:121850 one_to_one MONDO:0007376 fleck corneal dystrophy Orphanet Orphanet:98970 one_to_one MONDO:0007376 fleck corneal dystrophy SCTID SCTID:417183007 one_to_one MONDO:0007376 fleck corneal dystrophy UMLS UMLS:C1562113 one_to_one +MONDO:0007376 fleck corneal dystrophy http http://identifiers.org/hgnc/23785 disease_has_basis_in_dysfunction_of MONDO:0007377 granular corneal dystrophy type i GARD GARD:0009677 one_to_one MONDO:0007377 granular corneal dystrophy type i ICD10 ICD10:H18.5 inexact MONDO:0007377 granular corneal dystrophy type i MESH MESH:C537304 one_to_one @@ -41651,14 +41964,15 @@ MONDO:0007377 granular corneal dystrophy type i OMIM OMIM:121900 one_to_one MONDO:0007377 granular corneal dystrophy type i Orphanet Orphanet:98962 one_to_one MONDO:0007377 granular corneal dystrophy type i SCTID SCTID:419039007 one_to_one MONDO:0007377 granular corneal dystrophy type i UMLS UMLS:C1641846 one_to_one +MONDO:0007377 granular corneal dystrophy type i http http://identifiers.org/hgnc/11771 disease_has_basis_in_dysfunction_of MONDO:0007378 posterior polymorphous corneal dystrophy 1 DOID DOID:0110855 one_to_one MONDO:0007378 posterior polymorphous corneal dystrophy 1 ICD10 ICD10:H18.50 inexact MONDO:0007378 posterior polymorphous corneal dystrophy 1 ICD9 ICD9:371.58 inexact MONDO:0007378 posterior polymorphous corneal dystrophy 1 MONDO MONDO:0020364 subclass -MONDO:0007378 posterior polymorphous corneal dystrophy 1 NCBIGene NCBIGene:30813,NCBIGene:58495 disease_has_basis_in_dysfunction_of MONDO:0007378 posterior polymorphous corneal dystrophy 1 OMIM OMIM:122000 one_to_one MONDO:0007378 posterior polymorphous corneal dystrophy 1 SCTID SCTID:29504002 one_to_one MONDO:0007378 posterior polymorphous corneal dystrophy 1 UMLS UMLS:CN029625 one_to_one +MONDO:0007378 posterior polymorphous corneal dystrophy 1 http http://identifiers.org/hgnc/12723,http://identifiers.org/hgnc/15804 disease_has_basis_in_dysfunction_of MONDO:0007379 Meesmann corneal dystrophy DOID DOID:0060451 one_to_one MONDO:0007379 Meesmann corneal dystrophy GARD GARD:0009688 one_to_one MONDO:0007379 Meesmann corneal dystrophy ICD10 ICD10:H18.5,ICD10:H18.52 inexact @@ -41670,6 +41984,7 @@ MONDO:0007379 Meesmann corneal dystrophy OMIM OMIM:122100 one_to_one MONDO:0007379 Meesmann corneal dystrophy Orphanet Orphanet:98954 one_to_one MONDO:0007379 Meesmann corneal dystrophy SCTID SCTID:1674008 one_to_one MONDO:0007379 Meesmann corneal dystrophy UMLS UMLS:C0339277 one_to_one +MONDO:0007379 Meesmann corneal dystrophy http http://identifiers.org/hgnc/6414,http://identifiers.org/hgnc/6440 disease_has_basis_in_dysfunction_of MONDO:0007380 lattice corneal dystrophy type I GARD GARD:0009678 one_to_one MONDO:0007380 lattice corneal dystrophy type I ICD10 ICD10:H18.5 inexact MONDO:0007380 lattice corneal dystrophy type I MESH MESH:C537881 one_to_one @@ -41678,6 +41993,7 @@ MONDO:0007380 lattice corneal dystrophy type I OMIM OMIM:122200 one_to_one MONDO:0007380 lattice corneal dystrophy type I Orphanet Orphanet:98964 one_to_one MONDO:0007380 lattice corneal dystrophy type I SCTID SCTID:419197009 one_to_one MONDO:0007380 lattice corneal dystrophy type I UMLS UMLS:C1690006,UMLS:CN207224 inexact +MONDO:0007380 lattice corneal dystrophy type I http http://identifiers.org/hgnc/11771 disease_has_basis_in_dysfunction_of MONDO:0007381 epithelial recurrent erosion dystrophy ICD10 ICD10:H18.5 inexact MONDO:0007381 epithelial recurrent erosion dystrophy MESH MESH:C565155 one_to_one MONDO:0007381 epithelial recurrent erosion dystrophy MONDO MONDO:0020212 subclass @@ -41685,6 +42001,7 @@ MONDO:0007381 epithelial recurrent erosion dystrophy OMIM OMIM:122400 one_to_one MONDO:0007381 epithelial recurrent erosion dystrophy Orphanet Orphanet:293381 one_to_one MONDO:0007381 epithelial recurrent erosion dystrophy SCTID SCTID:715908008 one_to_one MONDO:0007381 epithelial recurrent erosion dystrophy UMLS UMLS:C1852551 one_to_one +MONDO:0007381 epithelial recurrent erosion dystrophy http http://identifiers.org/hgnc/2194 disease_has_basis_in_dysfunction_of MONDO:0007382 Ramos-Arroyo syndrome GARD GARD:0004636 one_to_one MONDO:0007382 Ramos-Arroyo syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007382 Ramos-Arroyo syndrome MESH MESH:C535286 one_to_one @@ -41718,6 +42035,7 @@ MONDO:0007387 Cornelia de Lange syndrome 1 MONDO MONDO:0016033 subclass MONDO:0007387 Cornelia de Lange syndrome 1 OMIM OMIM:122470 one_to_one MONDO:0007387 Cornelia de Lange syndrome 1 SCTID SCTID:40354009 one_to_one MONDO:0007387 Cornelia de Lange syndrome 1 UMLS UMLS:CN029798 one_to_one +MONDO:0007387 Cornelia de Lange syndrome 1 http http://identifiers.org/hgnc/28862 disease_has_basis_in_dysfunction_of MONDO:0007388 congenitally short costocoracoid ligament GARD GARD:0001551 one_to_one MONDO:0007388 congenitally short costocoracoid ligament ICD10 ICD10:Q68.8 inexact MONDO:0007388 congenitally short costocoracoid ligament MESH MESH:C536448 one_to_one @@ -41728,9 +42046,11 @@ MONDO:0007389 spondylocostal dysostosis 5 GARD GARD:0012806 one_to_one MONDO:0007389 spondylocostal dysostosis 5 MONDO MONDO:0000359,MONDO:0018454 subclass MONDO:0007389 spondylocostal dysostosis 5 OMIM OMIM:122600 one_to_one MONDO:0007389 spondylocostal dysostosis 5 UMLS UMLS:C4083048 one_to_one +MONDO:0007389 spondylocostal dysostosis 5 http http://identifiers.org/hgnc/11605 disease_has_basis_in_dysfunction_of MONDO:0007390 coumarin resistance MONDO MONDO:0003847 subclass MONDO:0007390 coumarin resistance OMIM OMIM:122700 one_to_one MONDO:0007390 coumarin resistance UMLS UMLS:C0750384,UMLS:CN078029 inexact +MONDO:0007390 coumarin resistance http http://identifiers.org/hgnc/23663,http://identifiers.org/hgnc/2610,http://identifiers.org/hgnc/2623,http://identifiers.org/hgnc/3551 disease_has_basis_in_dysfunction_of MONDO:0007391 coxa vara (disease) EFO EFO:1001298 one_to_one MONDO:0007391 coxa vara (disease) GARD GARD:0008750 one_to_one MONDO:0007391 coxa vara (disease) HP HP:0002812 one_to_one @@ -41757,6 +42077,7 @@ MONDO:0007395 craniofacial-deafness-hand syndrome MONDO MONDO:0019589,MONDO:0043 MONDO:0007395 craniofacial-deafness-hand syndrome OMIM OMIM:122880 one_to_one MONDO:0007395 craniofacial-deafness-hand syndrome Orphanet Orphanet:1529 one_to_one MONDO:0007395 craniofacial-deafness-hand syndrome SCTID SCTID:702362004 one_to_one +MONDO:0007395 craniofacial-deafness-hand syndrome http http://identifiers.org/hgnc/8617 disease_has_basis_in_dysfunction_of MONDO:0007396 dysostosis, Stanescu type GARD GARD:0002016 one_to_one MONDO:0007396 dysostosis, Stanescu type ICD10 ICD10:Q78.8 inexact MONDO:0007396 dysostosis, Stanescu type MESH MESH:C562974 one_to_one @@ -41770,6 +42091,7 @@ MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant MESH MESH:C565145 MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant MONDO MONDO:0015465 subclass MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant OMIM OMIM:123000 one_to_one MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant UMLS UMLS:C1852502 one_to_one +MONDO:0007397 craniometaphyseal dysplasia, autosomal dominant http http://identifiers.org/hgnc/15492 disease_has_basis_in_dysfunction_of MONDO:0007398 craniorhiny ICD10 ICD10:Q30.8 inexact MONDO:0007398 craniorhiny MESH MESH:C565144 one_to_one MONDO:0007398 craniorhiny MONDO MONDO:0003847,MONDO:0015503,MONDO:0015960,MONDO:0018751 subclass @@ -41780,6 +42102,7 @@ MONDO:0007399 craniosynostosis 1 MONDO MONDO:0018112,MONDO:0018113,MONDO:0018114 MONDO:0007399 craniosynostosis 1 OMIM OMIM:123100 one_to_one MONDO:0007399 craniosynostosis 1 SCTID SCTID:57219006 one_to_one MONDO:0007399 craniosynostosis 1 UMLS UMLS:CN029978 one_to_one +MONDO:0007399 craniosynostosis 1 http http://identifiers.org/hgnc/12428 disease_has_basis_in_dysfunction_of MONDO:0007400 Jackson-Weiss syndrome GARD GARD:0006796 one_to_one MONDO:0007400 Jackson-Weiss syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007400 Jackson-Weiss syndrome ICD9 ICD9:759.89 inexact @@ -41790,6 +42113,7 @@ MONDO:0007400 Jackson-Weiss syndrome OMIM OMIM:123150 one_to_one MONDO:0007400 Jackson-Weiss syndrome Orphanet Orphanet:1540 one_to_one MONDO:0007400 Jackson-Weiss syndrome SCTID SCTID:709105005 one_to_one MONDO:0007400 Jackson-Weiss syndrome UMLS UMLS:C0795998 one_to_one +MONDO:0007400 Jackson-Weiss syndrome http http://identifiers.org/hgnc/3688,http://identifiers.org/hgnc/3689 disease_has_basis_in_dysfunction_of MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome GARD GARD:0000998,GARD:0001592 inexact MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome ICD10 ICD10:Q03.1,ICD10:Q75.0 inexact MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome MESH MESH:C563973 one_to_one @@ -41799,12 +42123,14 @@ MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome MONDO:0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome SCTID SCTID:720813007 one_to_one MONDO:0007402 creatine phosphokinase, elevated serum MONDO MONDO:0003847 subclass MONDO:0007402 creatine phosphokinase, elevated serum OMIM OMIM:123320 one_to_one +MONDO:0007402 creatine phosphokinase, elevated serum http http://identifiers.org/hgnc/1529 disease_has_basis_in_dysfunction_of MONDO:0007403 inherited Creutzfeldt-Jakob disease ICD10 ICD10:A81.0 inexact MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO MONDO:0021152 has_modifier MONDO:0007403 inherited Creutzfeldt-Jakob disease MONDO MONDO:0005357,MONDO:0017234,MONDO:0017662 subclass MONDO:0007403 inherited Creutzfeldt-Jakob disease OMIM OMIM:123400 one_to_one MONDO:0007403 inherited Creutzfeldt-Jakob disease Orphanet Orphanet:282166 one_to_one MONDO:0007403 inherited Creutzfeldt-Jakob disease SCTID SCTID:715807002 one_to_one +MONDO:0007403 inherited Creutzfeldt-Jakob disease http http://identifiers.org/hgnc/4944,http://identifiers.org/hgnc/9449 disease_has_basis_in_dysfunction_of MONDO:0007404 Cri-du-chat syndrome DOID DOID:12580 one_to_one MONDO:0007404 Cri-du-chat syndrome GARD GARD:0006213 one_to_one MONDO:0007404 Cri-du-chat syndrome ICD10 ICD10:Q93.4 inexact @@ -41826,6 +42152,7 @@ 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 MONDO:0007405 Crouzon syndrome SCTID SCTID:28861008 one_to_one +MONDO:0007405 Crouzon syndrome http http://identifiers.org/hgnc/3689 disease_has_basis_in_dysfunction_of MONDO:0007406 cryofibrinogenemia, familial primary MESH MESH:C565142 one_to_one MONDO:0007406 cryofibrinogenemia, familial primary MONDO MONDO:0003847,MONDO:0022904 subclass MONDO:0007406 cryofibrinogenemia, familial primary OMIM OMIM:123540 one_to_one @@ -41864,6 +42191,7 @@ MONDO:0007411 cutis laxa, autosomal dominant 1 ICD10 ICD10:Q82.8 inexact MONDO:0007411 cutis laxa, autosomal dominant 1 MONDO MONDO:0019571 subclass MONDO:0007411 cutis laxa, autosomal dominant 1 OMIM OMIM:123700 one_to_one MONDO:0007411 cutis laxa, autosomal dominant 1 UMLS UMLS:C3276539 one_to_one +MONDO:0007411 cutis laxa, autosomal dominant 1 http http://identifiers.org/hgnc/3327 disease_has_basis_in_dysfunction_of MONDO:0007412 Beare-Stevenson cutis gyrata syndrome DOID DOID:0050660 one_to_one MONDO:0007412 Beare-Stevenson cutis gyrata syndrome GARD GARD:0000332 one_to_one MONDO:0007412 Beare-Stevenson cutis gyrata syndrome ICD10 ICD10:Q87.8 inexact @@ -41875,6 +42203,7 @@ MONDO:0007412 Beare-Stevenson cutis gyrata syndrome OMIM OMIM:123790 one_to_one MONDO:0007412 Beare-Stevenson cutis gyrata syndrome Orphanet Orphanet:1555 one_to_one MONDO:0007412 Beare-Stevenson cutis gyrata syndrome SCTID SCTID:703528008 one_to_one MONDO:0007412 Beare-Stevenson cutis gyrata syndrome UMLS UMLS:C1852406 one_to_one +MONDO:0007412 Beare-Stevenson cutis gyrata syndrome http http://identifiers.org/hgnc/3689 disease_has_basis_in_dysfunction_of 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 @@ -41895,6 +42224,7 @@ MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 GARD GARD:0008 MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 MESH MESH:C565128 one_to_one MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 MONDO MONDO:0015448 subclass MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 OMIM OMIM:124000 one_to_one +MONDO:0007415 mitochondrial complex III deficiency nuclear type 1 http http://identifiers.org/hgnc/1020 disease_has_basis_in_dysfunction_of MONDO:0007416 Balkan nephropathy DOID DOID:3052 one_to_one MONDO:0007416 Balkan nephropathy EFO EFO:0007164 one_to_one MONDO:0007416 Balkan nephropathy GARD GARD:0008576 one_to_one @@ -41929,6 +42259,7 @@ MONDO:0007420 autosomal dominant deafness-onychodystrophy syndrome MONDO MONDO:0 MONDO:0007420 autosomal dominant deafness-onychodystrophy syndrome OMIM OMIM:124480 one_to_one MONDO:0007420 autosomal dominant deafness-onychodystrophy syndrome Orphanet Orphanet:79499 one_to_one MONDO:0007420 autosomal dominant deafness-onychodystrophy syndrome UMLS UMLS:C2675730 one_to_one +MONDO:0007420 autosomal dominant deafness-onychodystrophy syndrome http http://identifiers.org/hgnc/854 disease_has_basis_in_dysfunction_of MONDO:0007421 deafness-ear malformation-facial palsy syndrome ICD10 ICD10:Q87.0 inexact MONDO:0007421 deafness-ear malformation-facial palsy syndrome MESH MESH:C565123 one_to_one MONDO:0007421 deafness-ear malformation-facial palsy syndrome MONDO MONDO:0019589 subclass @@ -41943,6 +42274,7 @@ MONDO:0007422 keratoderma hereditarium mutilans MONDO MONDO:0017670,MONDO:001958 MONDO:0007422 keratoderma hereditarium mutilans OMIM OMIM:124500 one_to_one MONDO:0007422 keratoderma hereditarium mutilans Orphanet Orphanet:494 one_to_one MONDO:0007422 keratoderma hereditarium mutilans SCTID SCTID:24559001 one_to_one +MONDO:0007422 keratoderma hereditarium mutilans http http://identifiers.org/hgnc/4284 disease_has_basis_in_dysfunction_of MONDO:0007423 deafness, mid-tone neural MESH MESH:C565122 one_to_one MONDO:0007423 deafness, mid-tone neural MONDO MONDO:0003847 subclass MONDO:0007423 deafness, mid-tone neural OMIM OMIM:124700 one_to_one @@ -41951,9 +42283,9 @@ MONDO:0007424 autosomal dominant nonsyndromic deafness 1 DOID DOID:0110541 one_t MONDO:0007424 autosomal dominant nonsyndromic deafness 1 ICD10 ICD10:H90.3 inexact MONDO:0007424 autosomal dominant nonsyndromic deafness 1 MESH MESH:C565121 one_to_one MONDO:0007424 autosomal dominant nonsyndromic deafness 1 MONDO MONDO:0019587 subclass -MONDO:0007424 autosomal dominant nonsyndromic deafness 1 NCBIGene NCBIGene:1729 disease_has_basis_in_dysfunction_of MONDO:0007424 autosomal dominant nonsyndromic deafness 1 OMIM OMIM:124900 one_to_one MONDO:0007424 autosomal dominant nonsyndromic deafness 1 UMLS UMLS:C1852282 one_to_one +MONDO:0007424 autosomal dominant nonsyndromic deafness 1 http http://identifiers.org/hgnc/2876 disease_has_basis_in_dysfunction_of MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease MESH MESH:C565120 one_to_one MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease MONDO MONDO:0003847 subclass MONDO:0007425 deafness, sensorineural, with peripheral neuropathy and arterial disease OMIM OMIM:124950 one_to_one @@ -41978,6 +42310,7 @@ MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO MONDO:0014720 subclass MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy OMIM OMIM:125250 one_to_one MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy UMLS UMLS:C3276549 one_to_one +MONDO:0007429 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy http http://identifiers.org/hgnc/8140 disease_has_basis_in_dysfunction_of MONDO:0007430 dens evaginatus MONDO MONDO:0003847 subclass MONDO:0007430 dens evaginatus OMIM OMIM:125280 one_to_one MONDO:0007430 dens evaginatus SCTID SCTID:63691004 one_to_one @@ -41998,6 +42331,7 @@ MONDO:0007432 CADASIL OMIMPS OMIMPS:125310 one_to_one MONDO:0007432 CADASIL Orphanet Orphanet:136 one_to_one MONDO:0007432 CADASIL SCTID SCTID:390936003 one_to_one MONDO:0007432 CADASIL UMLS UMLS:C0751587 one_to_one +MONDO:0007432 CADASIL http http://identifiers.org/hgnc/7883 disease_has_basis_in_dysfunction_of MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques MESH MESH:C565115 one_to_one MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques MONDO MONDO:0003847 subclass MONDO:0007433 dementia/parkinsonism with non-Alzheimer amyloid plaques OMIM OMIM:125320 one_to_one @@ -42008,6 +42342,7 @@ MONDO:0007434 primary failure of tooth eruption MONDO MONDO:0003847,MONDO:001560 MONDO:0007434 primary failure of tooth eruption OMIM OMIM:125350 one_to_one MONDO:0007434 primary failure of tooth eruption Orphanet Orphanet:412206 one_to_one MONDO:0007434 primary failure of tooth eruption UMLS UMLS:C1852222 one_to_one +MONDO:0007434 primary failure of tooth eruption http http://identifiers.org/hgnc/9608 disease_has_basis_in_dysfunction_of MONDO:0007435 dentatorubral-pallidoluysian atrophy DOID DOID:0060162 one_to_one MONDO:0007435 dentatorubral-pallidoluysian atrophy GARD GARD:0005643 one_to_one MONDO:0007435 dentatorubral-pallidoluysian atrophy ICD10 ICD10:G11.8 inexact @@ -42018,6 +42353,7 @@ MONDO:0007435 dentatorubral-pallidoluysian atrophy OMIM OMIM:125370 one_to_one MONDO:0007435 dentatorubral-pallidoluysian atrophy Orphanet Orphanet:101 one_to_one MONDO:0007435 dentatorubral-pallidoluysian atrophy SCTID SCTID:68116008 one_to_one MONDO:0007435 dentatorubral-pallidoluysian atrophy UMLS UMLS:C0751781 one_to_one +MONDO:0007435 dentatorubral-pallidoluysian atrophy http http://identifiers.org/hgnc/3033 disease_has_basis_in_dysfunction_of MONDO:0007436 dentin dysplasia type I GARD GARD:0001807 one_to_one MONDO:0007436 dentin dysplasia type I ICD10 ICD10:K00.5 inexact MONDO:0007436 dentin dysplasia type I ICD9 ICD9:520.5 inexact @@ -42027,6 +42363,7 @@ MONDO:0007436 dentin dysplasia type I OMIM OMIM:125400 one_to_one MONDO:0007436 dentin dysplasia type I Orphanet Orphanet:99789 one_to_one MONDO:0007436 dentin dysplasia type I SCTID SCTID:109493006 one_to_one MONDO:0007436 dentin dysplasia type I UMLS UMLS:C0399379 one_to_one +MONDO:0007436 dentin dysplasia type I http http://identifiers.org/hgnc/20323 disease_has_basis_in_dysfunction_of MONDO:0007437 dentin dysplasia type II GARD GARD:0001806 one_to_one MONDO:0007437 dentin dysplasia type II ICD10 ICD10:K00.5 inexact MONDO:0007437 dentin dysplasia type II ICD9 ICD9:520.5 inexact @@ -42034,6 +42371,7 @@ MONDO:0007437 dentin dysplasia type II MONDO MONDO:0003847,MONDO:0015613 subclas MONDO:0007437 dentin dysplasia type II OMIM OMIM:125420 one_to_one MONDO:0007437 dentin dysplasia type II Orphanet Orphanet:99791 one_to_one MONDO:0007437 dentin dysplasia type II SCTID SCTID:109494000 one_to_one +MONDO:0007437 dentin dysplasia type II http http://identifiers.org/hgnc/3054 disease_has_basis_in_dysfunction_of MONDO:0007438 dentin dysplasia-sclerotic bones syndrome GARD GARD:0001808 one_to_one MONDO:0007438 dentin dysplasia-sclerotic bones syndrome ICD10 ICD10:K00.5 inexact MONDO:0007438 dentin dysplasia-sclerotic bones syndrome MESH MESH:C538213 one_to_one @@ -42053,6 +42391,7 @@ MONDO:0007441 dentinogenesis imperfecta type 2 ICD10 ICD10:K00.5 inexact MONDO:0007441 dentinogenesis imperfecta type 2 MONDO MONDO:0003847,MONDO:0018849 subclass MONDO:0007441 dentinogenesis imperfecta type 2 OMIM OMIM:125490 one_to_one MONDO:0007441 dentinogenesis imperfecta type 2 Orphanet Orphanet:166260 one_to_one +MONDO:0007441 dentinogenesis imperfecta type 2 http http://identifiers.org/hgnc/3054 disease_has_basis_in_dysfunction_of MONDO:0007442 dentinogenesis imperfecta type 3 GARD GARD:0010144 one_to_one MONDO:0007442 dentinogenesis imperfecta type 3 ICD10 ICD10:K00.5 inexact MONDO:0007442 dentinogenesis imperfecta type 3 ICD9 ICD9:520.5 inexact @@ -42061,6 +42400,7 @@ MONDO:0007442 dentinogenesis imperfecta type 3 MONDO MONDO:0003847,MONDO:0018849 MONDO:0007442 dentinogenesis imperfecta type 3 OMIM OMIM:125500 one_to_one MONDO:0007442 dentinogenesis imperfecta type 3 Orphanet Orphanet:166265 one_to_one MONDO:0007442 dentinogenesis imperfecta type 3 SCTID SCTID:234970006 one_to_one +MONDO:0007442 dentinogenesis imperfecta type 3 http http://identifiers.org/hgnc/3054 disease_has_basis_in_dysfunction_of MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris ICD10 ICD10:Q87.0 inexact MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris ICD9 ICD9:759.89 inexact MONDO:0007443 congenital unilateral hypoplasia of depressor anguli oris MONDO MONDO:0018923 subclass @@ -42078,6 +42418,7 @@ MONDO:0007445 dermatopathia pigmentosa reticularis MONDO MONDO:0019287,MONDO:001 MONDO:0007445 dermatopathia pigmentosa reticularis OMIM OMIM:125595 one_to_one MONDO:0007445 dermatopathia pigmentosa reticularis Orphanet Orphanet:86920 one_to_one MONDO:0007445 dermatopathia pigmentosa reticularis SCTID SCTID:239088003 one_to_one +MONDO:0007445 dermatopathia pigmentosa reticularis http http://identifiers.org/hgnc/6416 disease_has_basis_in_dysfunction_of MONDO:0007446 dermatosis papulosa nigra DOID DOID:4400 one_to_one MONDO:0007446 dermatosis papulosa nigra EFO EFO:1000686 one_to_one MONDO:0007446 dermatosis papulosa nigra ICD10 ICD10:L82 inexact @@ -42094,6 +42435,7 @@ MONDO:0007447 autosomal dominant vibratory urticaria MONDO MONDO:0000426,MONDO:0 MONDO:0007447 autosomal dominant vibratory urticaria OMIM OMIM:125630 one_to_one MONDO:0007447 autosomal dominant vibratory urticaria Orphanet Orphanet:493342 one_to_one MONDO:0007447 autosomal dominant vibratory urticaria UMLS UMLS:C1852146 one_to_one +MONDO:0007447 autosomal dominant vibratory urticaria http http://identifiers.org/hgnc/3337 disease_has_basis_in_dysfunction_of MONDO:0007448 familial dermatographia COHD COHD:132983 one_to_one MONDO:0007448 familial dermatographia DOID DOID:743 one_to_one MONDO:0007448 familial dermatographia EFO EFO:1000685 one_to_one @@ -42120,9 +42462,11 @@ MONDO:0007450 neurohypophyseal diabetes insipidus OMIM OMIM:125700 one_to_one MONDO:0007450 neurohypophyseal diabetes insipidus Orphanet Orphanet:30925 one_to_one MONDO:0007450 neurohypophyseal diabetes insipidus SCTID SCTID:45369008 one_to_one MONDO:0007450 neurohypophyseal diabetes insipidus UBERON UBERON:0000007 disease_has_location +MONDO:0007450 neurohypophyseal diabetes insipidus http http://identifiers.org/hgnc/894 disease_has_basis_in_dysfunction_of MONDO:0007451 diabetes insipidus, nephrogenic, autosomal MONDO MONDO:0016383 subclass MONDO:0007451 diabetes insipidus, nephrogenic, autosomal OMIM OMIM:125800 one_to_one MONDO:0007451 diabetes insipidus, nephrogenic, autosomal UMLS UMLS:C1563706 one_to_one +MONDO:0007451 diabetes insipidus, nephrogenic, autosomal http http://identifiers.org/hgnc/634 disease_has_basis_in_dysfunction_of MONDO:0007452 maturity-onset diabetes of the young type 1 DOID DOID:0111099 one_to_one MONDO:0007452 maturity-onset diabetes of the young type 1 GARD GARD:0003418 one_to_one MONDO:0007452 maturity-onset diabetes of the young type 1 MESH MESH:C565101 one_to_one @@ -42131,21 +42475,24 @@ MONDO:0007452 maturity-onset diabetes of the young type 1 NCIT NCIT:C129744 one_ MONDO:0007452 maturity-onset diabetes of the young type 1 OMIM OMIM:125850 one_to_one MONDO:0007452 maturity-onset diabetes of the young type 1 SCTID SCTID:609562003 one_to_one MONDO:0007452 maturity-onset diabetes of the young type 1 UMLS UMLS:C1852093 one_to_one +MONDO:0007452 maturity-onset diabetes of the young type 1 http http://identifiers.org/hgnc/5024 disease_has_basis_in_dysfunction_of MONDO:0007453 maturity-onset diabetes of the young type 2 DOID DOID:0111100 one_to_one MONDO:0007453 maturity-onset diabetes of the young type 2 GARD GARD:0010657 one_to_one MONDO:0007453 maturity-onset diabetes of the young type 2 MONDO MONDO:0018911 subclass MONDO:0007453 maturity-onset diabetes of the young type 2 NCIT NCIT:C129741 one_to_one MONDO:0007453 maturity-onset diabetes of the young type 2 OMIM OMIM:125851 one_to_one MONDO:0007453 maturity-onset diabetes of the young type 2 SCTID SCTID:237604008 one_to_one +MONDO:0007453 maturity-onset diabetes of the young type 2 http http://identifiers.org/hgnc/4195 disease_has_basis_in_dysfunction_of MONDO:0007454 type 1 diabetes mellitus 2 DOID DOID:0110741 one_to_one MONDO:0007454 type 1 diabetes mellitus 2 ICD10 ICD10:E10 inexact MONDO:0007454 type 1 diabetes mellitus 2 MESH MESH:C565100 one_to_one MONDO:0007454 type 1 diabetes mellitus 2 MONDO MONDO:0005147 subclass -MONDO:0007454 type 1 diabetes mellitus 2 NCBIGene NCBIGene:3630 disease_has_basis_in_dysfunction_of MONDO:0007454 type 1 diabetes mellitus 2 OMIM OMIM:125852 one_to_one MONDO:0007454 type 1 diabetes mellitus 2 UMLS UMLS:C1852092 one_to_one +MONDO:0007454 type 1 diabetes mellitus 2 http http://identifiers.org/hgnc/6081 disease_has_basis_in_dysfunction_of MONDO:0007455 diabetes mellitus, noninsulin-dependent MONDO MONDO:0005148,MONDO:0015887,MONDO:0015967 subclass MONDO:0007455 diabetes mellitus, noninsulin-dependent OMIM OMIM:125853 one_to_one +MONDO:0007455 diabetes mellitus, noninsulin-dependent http http://identifiers.org/hgnc/11006,http://identifiers.org/hgnc/11621,http://identifiers.org/hgnc/11630,http://identifiers.org/hgnc/11641,http://identifiers.org/hgnc/12762,http://identifiers.org/hgnc/20303,http://identifiers.org/hgnc/20389,http://identifiers.org/hgnc/21050,http://identifiers.org/hgnc/28867,http://identifiers.org/hgnc/3356,http://identifiers.org/hgnc/392,http://identifiers.org/hgnc/4192,http://identifiers.org/hgnc/4195,http://identifiers.org/hgnc/4456,http://identifiers.org/hgnc/5010,http://identifiers.org/hgnc/5024,http://identifiers.org/hgnc/59,http://identifiers.org/hgnc/6107,http://identifiers.org/hgnc/6125,http://identifiers.org/hgnc/6126,http://identifiers.org/hgnc/6257,http://identifiers.org/hgnc/6619,http://identifiers.org/hgnc/6882,http://identifiers.org/hgnc/7464,http://identifiers.org/hgnc/7762,http://identifiers.org/hgnc/8618,http://identifiers.org/hgnc/9236,http://identifiers.org/hgnc/9291,http://identifiers.org/hgnc/9642 disease_has_basis_in_dysfunction_of MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency MESH MESH:C565099 one_to_one MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency MONDO MONDO:0003847 subclass MONDO:0007456 diarrhea, glucose-stimulated secretory, with common variable immunodeficiency OMIM OMIM:125890 one_to_one @@ -42183,6 +42530,7 @@ MONDO:0007464 isolated distichiasis SCTID SCTID:95339000 one_to_one MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature MESH MESH:C565092 one_to_one MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature MONDO MONDO:0003847 subclass MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature OMIM OMIM:126320 one_to_one +MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature Orphanet Orphanet:1683 one_to_one MONDO:0007465 distichiasis with congenital anomalies of the heart and peripheral vasculature UMLS UMLS:C1852062 one_to_one MONDO:0007466 DNA, satellite, 3 MONDO MONDO:0003847 subclass MONDO:0007466 DNA, satellite, 3 OMIM OMIM:126370 one_to_one @@ -42192,7 +42540,7 @@ MONDO:0007468 DNA, satellite, alpha type MONDO MONDO:0003847 subclass MONDO:0007468 DNA, satellite, alpha type OMIM OMIM:126410 one_to_one MONDO:0007469 double nail for fifth toe GARD GARD:0009672 one_to_one MONDO:0007469 double nail for fifth toe MESH MESH:C565090 one_to_one -MONDO:0007469 double nail for fifth toe MONDO MONDO:0003847,MONDO:0024505 subclass +MONDO:0007469 double nail for fifth toe MONDO MONDO:0003847,MONDO:0044967 subclass MONDO:0007469 double nail for fifth toe OMIM OMIM:126500 one_to_one MONDO:0007469 double nail for fifth toe UBERON UBERON:0003625 disease_has_location MONDO:0007470 calvarial doughnut lesions-bone fragility syndrome ICD10 ICD10:M85.8 inexact @@ -42210,12 +42558,14 @@ MONDO:0007471 Doyne honeycomb retinal dystrophy OMIM OMIM:126600 one_to_one MONDO:0007471 Doyne honeycomb retinal dystrophy Orphanet Orphanet:75376 one_to_one MONDO:0007471 Doyne honeycomb retinal dystrophy SCTID SCTID:193411004 one_to_one MONDO:0007471 Doyne honeycomb retinal dystrophy UMLS UMLS:C1832174,UMLS:C1852020,UMLS:CN205694 inexact +MONDO:0007471 Doyne honeycomb retinal dystrophy http http://identifiers.org/hgnc/3218 disease_has_basis_in_dysfunction_of MONDO:0007472 basal laminar drusen DOID DOID:0060746 one_to_one MONDO:0007472 basal laminar drusen ICD10 ICD10:H35.5 inexact MONDO:0007472 basal laminar drusen MESH MESH:C563034 one_to_one MONDO:0007472 basal laminar drusen MONDO MONDO:0007471 subclass MONDO:0007472 basal laminar drusen OMIM OMIM:126700 one_to_one MONDO:0007472 basal laminar drusen UMLS UMLS:C0730295 one_to_one +MONDO:0007472 basal laminar drusen http http://identifiers.org/hgnc/4883 disease_has_basis_in_dysfunction_of MONDO:0007473 Duane retraction syndrome COHD COHD:376989 one_to_one MONDO:0007473 Duane retraction syndrome DOID DOID:12557 one_to_one MONDO:0007473 Duane retraction syndrome GARD GARD:0006288 one_to_one @@ -42262,6 +42612,7 @@ MONDO:0007478 autosomal dominant Kenny-Caffey syndrome NCIT NCIT:C130993 one_to_ MONDO:0007478 autosomal dominant Kenny-Caffey syndrome OMIM OMIM:127000 one_to_one MONDO:0007478 autosomal dominant Kenny-Caffey syndrome Orphanet Orphanet:93325 one_to_one MONDO:0007478 autosomal dominant Kenny-Caffey syndrome UMLS UMLS:CN031291 one_to_one +MONDO:0007478 autosomal dominant Kenny-Caffey syndrome http http://identifiers.org/hgnc/24725 disease_has_basis_in_dysfunction_of MONDO:0007479 dwarfism, Levi type GARD GARD:0006294 one_to_one MONDO:0007479 dwarfism, Levi type MESH MESH:C565081 one_to_one MONDO:0007479 dwarfism, Levi type MONDO MONDO:0003847 subclass @@ -42301,12 +42652,14 @@ MONDO:0007483 dyschromatosis symmetrica hereditaria OMIM OMIM:127400 one_to_one MONDO:0007483 dyschromatosis symmetrica hereditaria Orphanet Orphanet:41 one_to_one MONDO:0007483 dyschromatosis symmetrica hereditaria SCTID SCTID:239085000 one_to_one MONDO:0007483 dyschromatosis symmetrica hereditaria UMLS UMLS:C0406775 one_to_one +MONDO:0007483 dyschromatosis symmetrica hereditaria http http://identifiers.org/hgnc/225 disease_has_basis_in_dysfunction_of MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 DOID DOID:0070014 one_to_one MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 GARD GARD:0006299 one_to_one MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MESH MESH:C565079 one_to_one MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 MONDO MONDO:0015780 subclass MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 OMIM OMIM:127550 one_to_one MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 SCTID SCTID:707273001 one_to_one +MONDO:0007485 dyskeratosis congenita, autosomal dominant 1 http http://identifiers.org/hgnc/11727,http://identifiers.org/hgnc/11730,http://identifiers.org/hgnc/11824 disease_has_basis_in_dysfunction_of MONDO:0007486 hereditary benign intraepithelial dyskeratosis ICD10 ICD10:Q82.8 inexact MONDO:0007486 hereditary benign intraepithelial dyskeratosis MESH MESH:C562551 one_to_one MONDO:0007486 hereditary benign intraepithelial dyskeratosis MONDO MONDO:0020212,MONDO:0020215 subclass @@ -42317,6 +42670,7 @@ MONDO:0007486 hereditary benign intraepithelial dyskeratosis SCTID SCTID:4000140 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 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 MONDO:0007488 Lewy body dementia DOID DOID:12217 one_to_one MONDO:0007488 Lewy body dementia EFO EFO:0006792 one_to_one @@ -42328,6 +42682,7 @@ MONDO:0007488 Lewy body dementia NCIT NCIT:C84826 one_to_one MONDO:0007488 Lewy body dementia OMIM OMIM:127750 one_to_one MONDO:0007488 Lewy body dementia SCTID SCTID:312991009 one_to_one MONDO:0007488 Lewy body dementia UMLS UMLS:C0752347 one_to_one +MONDO:0007488 Lewy body dementia http http://identifiers.org/hgnc/11138,http://identifiers.org/hgnc/11140,http://identifiers.org/hgnc/4177 disease_has_basis_in_dysfunction_of MONDO:0007489 dysplasia epiphysealis hemimelica GARD GARD:0002019 one_to_one MONDO:0007489 dysplasia epiphysealis hemimelica ICD10 ICD10:Q74.8 inexact MONDO:0007489 dysplasia epiphysealis hemimelica ICD9 ICD9:756.59 inexact @@ -42345,18 +42700,20 @@ MONDO:0007490 carpotarsal osteochondromatosis OMIM OMIM:127820 one_to_one MONDO:0007490 carpotarsal osteochondromatosis Orphanet Orphanet:2767 one_to_one MONDO:0007490 carpotarsal osteochondromatosis SCTID SCTID:389272007 one_to_one MONDO:0007490 carpotarsal osteochondromatosis UMLS UMLS:C1300233 one_to_one -MONDO:0007491 Dystelephalangy GARD GARD:0010059 one_to_one -MONDO:0007491 Dystelephalangy MESH MESH:C538000 one_to_one -MONDO:0007491 Dystelephalangy MONDO MONDO:0003847 subclass -MONDO:0007491 Dystelephalangy OMIM OMIM:128000 one_to_one -MONDO:0007491 Dystelephalangy UMLS UMLS:C1851955 one_to_one +MONDO:0007491 dystelephalangy GARD GARD:0010059 one_to_one +MONDO:0007491 dystelephalangy MESH MESH:C538000 one_to_one +MONDO:0007491 dystelephalangy MONDO MONDO:0003847 subclass +MONDO:0007491 dystelephalangy OMIM OMIM:128000 one_to_one +MONDO:0007491 dystelephalangy UMLS UMLS:C1851955 one_to_one MONDO:0007492 early-onset generalized limb-onset dystonia DOID DOID:0060730 one_to_one MONDO:0007492 early-onset generalized limb-onset dystonia GARD GARD:0002027 one_to_one MONDO:0007492 early-onset generalized limb-onset dystonia ICD10 ICD10:G24.1 inexact +MONDO:0007492 early-onset generalized limb-onset dystonia MESH MESH:C538005 one_to_one MONDO:0007492 early-onset generalized limb-onset dystonia MONDO MONDO:0100016 subclass MONDO:0007492 early-onset generalized limb-onset dystonia OMIM OMIM:128100 one_to_one MONDO:0007492 early-onset generalized limb-onset dystonia Orphanet Orphanet:256 one_to_one MONDO:0007492 early-onset generalized limb-onset dystonia UMLS UMLS:C0013423,UMLS:C3888090 inexact +MONDO:0007492 early-onset generalized limb-onset dystonia http http://identifiers.org/hgnc/3098 disease_has_basis_in_dysfunction_of MONDO:0007493 torsion dystonia 4 DOID DOID:0090041 one_to_one MONDO:0007493 torsion dystonia 4 GARD GARD:0010138 one_to_one MONDO:0007493 torsion dystonia 4 ICD10 ICD10:G24.1 inexact @@ -42374,23 +42731,26 @@ MONDO:0007494 episodic kinesigenic dyskinesia 1 MONDO MONDO:0044202 subclass MONDO:0007494 episodic kinesigenic dyskinesia 1 OMIM OMIM:128200 one_to_one MONDO:0007494 episodic kinesigenic dyskinesia 1 Orphanet Orphanet:98809 one_to_one MONDO:0007494 episodic kinesigenic dyskinesia 1 SCTID SCTID:609221008 one_to_one +MONDO:0007494 episodic kinesigenic dyskinesia 1 http http://identifiers.org/hgnc/30500 disease_has_basis_in_dysfunction_of MONDO:0007495 dystonia 5 DOID DOID:0090043 one_to_one MONDO:0007495 dystonia 5 GARD GARD:0012144 one_to_one MONDO:0007495 dystonia 5 ICD10 ICD10:G24.1 inexact -MONDO:0007495 dystonia 5 MONDO MONDO:0016812,MONDO:0017756 subclass +MONDO:0007495 dystonia 5 MONDO MONDO:0016812,MONDO:0017756,MONDO:0044807 subclass MONDO:0007495 dystonia 5 OMIM OMIM:128230 one_to_one MONDO:0007495 dystonia 5 Orphanet Orphanet:98808 one_to_one MONDO:0007495 dystonia 5 SCTID SCTID:715768000 one_to_one MONDO:0007495 dystonia 5 UMLS UMLS:CN207122 one_to_one +MONDO:0007495 dystonia 5 http http://identifiers.org/hgnc/4193 disease_has_basis_in_dysfunction_of MONDO:0007496 dystonia 12 DOID DOID:0090056 one_to_one MONDO:0007496 dystonia 12 GARD GARD:0009628 one_to_one MONDO:0007496 dystonia 12 ICD10 ICD10:G24.1 inexact MONDO:0007496 dystonia 12 MESH MESH:C538001 one_to_one -MONDO:0007496 dystonia 12 MONDO MONDO:0017660,MONDO:0018329 subclass +MONDO:0007496 dystonia 12 MONDO MONDO:0003441,MONDO:0017660,MONDO:0018329 subclass MONDO:0007496 dystonia 12 OMIM OMIM:128235 one_to_one MONDO:0007496 dystonia 12 Orphanet Orphanet:71517 one_to_one MONDO:0007496 dystonia 12 SCTID SCTID:702323008 one_to_one MONDO:0007496 dystonia 12 UMLS UMLS:C1868681 one_to_one +MONDO:0007496 dystonia 12 http http://identifiers.org/hgnc/801 disease_has_basis_in_dysfunction_of MONDO:0007497 ear antitragus, tag at base of MONDO MONDO:0003847 subclass MONDO:0007497 ear antitragus, tag at base of OMIM OMIM:128290 one_to_one MONDO:0007498 ear exostoses MONDO MONDO:0003847 subclass @@ -42428,6 +42788,7 @@ MONDO:0007507 absence of fingerprints-congenital milia syndrome MONDO MONDO:0019 MONDO:0007507 absence of fingerprints-congenital milia syndrome OMIM OMIM:129200 one_to_one MONDO:0007507 absence of fingerprints-congenital milia syndrome Orphanet Orphanet:1658 one_to_one MONDO:0007507 absence of fingerprints-congenital milia syndrome SCTID SCTID:239011004 one_to_one +MONDO:0007507 absence of fingerprints-congenital milia syndrome http http://identifiers.org/hgnc/18398 disease_has_basis_in_dysfunction_of MONDO:0007508 Rapp-Hodgkin syndrome DOID DOID:0060330 one_to_one MONDO:0007508 Rapp-Hodgkin syndrome GARD GARD:0005690 one_to_one MONDO:0007508 Rapp-Hodgkin syndrome MESH MESH:C535289 one_to_one @@ -42438,15 +42799,17 @@ MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal d MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MONDO MONDO:0015884 subclass MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant OMIM OMIM:129490 one_to_one MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant UMLS UMLS:C3888065 one_to_one +MONDO:0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant http http://identifiers.org/hgnc/14341,http://identifiers.org/hgnc/2895 disease_has_basis_in_dysfunction_of MONDO:0007510 Clouston syndrome DOID DOID:14693 one_to_one MONDO:0007510 Clouston syndrome GARD GARD:0002056,GARD:0004253 inexact MONDO:0007510 Clouston syndrome GO GO:0005243 disease_has_basis_in_disruption_of MONDO:0007510 Clouston syndrome HP HP:0007435 disease_has_feature MONDO:0007510 Clouston syndrome ICD10 ICD10:Q82.8 inexact -MONDO:0007510 Clouston syndrome MONDO MONDO:0019287,MONDO:0020094,MONDO:0021196 subclass +MONDO:0007510 Clouston syndrome MONDO MONDO:0019287,MONDO:0020094,MONDO:0044975 subclass MONDO:0007510 Clouston syndrome OMIM OMIM:129500 one_to_one MONDO:0007510 Clouston syndrome Orphanet Orphanet:189 one_to_one MONDO:0007510 Clouston syndrome SCTID SCTID:54209007 one_to_one +MONDO:0007510 Clouston syndrome http http://identifiers.org/hgnc/4288 disease_has_basis_in_dysfunction_of MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type GARD GARD:0002055 one_to_one MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type ICD10 ICD10:Q82.4 inexact MONDO:0007511 ectodermal dysplasia, trichoodontoonychial type MESH MESH:C565068 one_to_one @@ -42461,11 +42824,13 @@ MONDO:0007512 ectodermal dysplasia syndrome with distinctive facial appearance a MONDO:0007513 ectodermal dysplasia with adrenal cyst MESH MESH:C538015 one_to_one MONDO:0007513 ectodermal dysplasia with adrenal cyst MONDO MONDO:0003847 subclass MONDO:0007513 ectodermal dysplasia with adrenal cyst OMIM OMIM:129550 one_to_one +MONDO:0007513 ectodermal dysplasia with adrenal cyst Orphanet Orphanet:3391 one_to_one MONDO:0007513 ectodermal dysplasia with adrenal cyst UMLS UMLS:C1851850 one_to_one MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant DOID DOID:0111150 one_to_one MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant MONDO MONDO:0015998 subclass MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant OMIM OMIM:129600 one_to_one MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant UMLS UMLS:C3541518 one_to_one +MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant http http://identifiers.org/hgnc/3603 disease_has_basis_in_dysfunction_of MONDO:0007514 ectopia lentis 1, isolated, autosomal dominant url url:https://www.ncbi.nlm.nih.gov/pubmed/15054843 one_to_one MONDO:0007515 ectopia pupillae (disease) GARD GARD:0008490 one_to_one MONDO:0007515 ectopia pupillae (disease) HP HP:0009918 one_to_one @@ -42476,6 +42841,7 @@ MONDO:0007515 ectopia pupillae (disease) SCTID SCTID:193523008 one_to_one MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate MESH MESH:C565065 one_to_one MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate MONDO MONDO:0003847 subclass MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate OMIM OMIM:129810 one_to_one +MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate Orphanet Orphanet:1888 one_to_one MONDO:0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate UMLS UMLS:C1851849 one_to_one MONDO:0007517 ectrodactyly-cleft palate syndrome MESH MESH:C565064 one_to_one MONDO:0007517 ectrodactyly-cleft palate syndrome MONDO MONDO:0003847 subclass @@ -42507,6 +42873,7 @@ MONDO:0007522 Ehlers-Danlos syndrome, classic type OMIM OMIM:130000 one_to_one MONDO:0007522 Ehlers-Danlos syndrome, classic type Orphanet Orphanet:287 one_to_one MONDO:0007522 Ehlers-Danlos syndrome, classic type SCTID SCTID:715318006 one_to_one MONDO:0007522 Ehlers-Danlos syndrome, classic type UMLS UMLS:C4225429 one_to_one +MONDO:0007522 Ehlers-Danlos syndrome, classic type http http://identifiers.org/hgnc/2197,http://identifiers.org/hgnc/2209,http://identifiers.org/hgnc/2210 disease_has_basis_in_dysfunction_of MONDO:0007523 type III Ehlers-Danlos syndrome DOID DOID:14757 one_to_one MONDO:0007523 type III Ehlers-Danlos syndrome GARD GARD:0002081 one_to_one MONDO:0007523 type III Ehlers-Danlos syndrome ICD10 ICD10:Q79.6 inexact @@ -42517,10 +42884,12 @@ MONDO:0007523 type III Ehlers-Danlos syndrome OMIM OMIM:130020 one_to_one MONDO:0007523 type III Ehlers-Danlos syndrome Orphanet Orphanet:285 one_to_one MONDO:0007523 type III Ehlers-Danlos syndrome SCTID SCTID:30652003 one_to_one MONDO:0007523 type III Ehlers-Danlos syndrome UMLS UMLS:C0268337 one_to_one +MONDO:0007523 type III Ehlers-Danlos syndrome http http://identifiers.org/hgnc/2201 disease_has_basis_in_dysfunction_of MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type DOID DOID:14756 one_to_one MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type HP HP:0000006 has_modifier MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type MONDO MONDO:0000426,MONDO:0017314 subclass MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type OMIM OMIM:130050 one_to_one +MONDO:0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type http http://identifiers.org/hgnc/2201 disease_has_basis_in_dysfunction_of MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type GARD GARD:0002084 one_to_one MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type ICD10 ICD10:Q79.6 inexact MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type MESH MESH:C562625 one_to_one @@ -42529,6 +42898,7 @@ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type NCIT NCIT:C125701 one_ MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type OMIM OMIM:130060 one_to_one MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type Orphanet Orphanet:1899 one_to_one MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type SCTID SCTID:4170004 one_to_one +MONDO:0007525 Ehlers-Danlos syndrome, arthrochalasis type http http://identifiers.org/hgnc/2197,http://identifiers.org/hgnc/2198 disease_has_basis_in_dysfunction_of MONDO:0007526 Ehlers-Danlos syndrome progeroid type DOID DOID:0050802 one_to_one MONDO:0007526 Ehlers-Danlos syndrome progeroid type GARD GARD:0009991 one_to_one MONDO:0007526 Ehlers-Danlos syndrome progeroid type ICD10 ICD10:Q79.6 inexact @@ -42538,6 +42908,7 @@ MONDO:0007526 Ehlers-Danlos syndrome progeroid type OMIM OMIM:130070 one_to_one MONDO:0007526 Ehlers-Danlos syndrome progeroid type Orphanet Orphanet:75496 one_to_one MONDO:0007526 Ehlers-Danlos syndrome progeroid type SCTID SCTID:720861000 one_to_one MONDO:0007526 Ehlers-Danlos syndrome progeroid type UMLS UMLS:C1869122 one_to_one +MONDO:0007526 Ehlers-Danlos syndrome progeroid type http http://identifiers.org/hgnc/930 disease_has_basis_in_dysfunction_of MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type GARD GARD:0012474 one_to_one MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type ICD10 ICD10:Q79.6 inexact MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type MESH MESH:C562626 one_to_one @@ -42545,6 +42916,7 @@ MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type MONDO MONDO:0020014,MON MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type OMIM OMIM:130080 one_to_one MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type Orphanet Orphanet:75392 one_to_one MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type SCTID SCTID:50869007 one_to_one +MONDO:0007527 Ehlers-Danlos syndrome, periodontitis type http http://identifiers.org/hgnc/1246 disease_has_basis_in_dysfunction_of MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified MESH MESH:C562424 one_to_one MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified MONDO MONDO:0020066 subclass MONDO:0007528 Ehlers-Danlos syndrome, autosomal dominant, type unspecified OMIM OMIM:130090 one_to_one @@ -42569,6 +42941,7 @@ MONDO:0007533 elliptocytosis 2 MESH MESH:C565058 one_to_one MONDO:0007533 elliptocytosis 2 MONDO MONDO:0017319 subclass MONDO:0007533 elliptocytosis 2 OMIM OMIM:130600 one_to_one MONDO:0007533 elliptocytosis 2 UMLS UMLS:C1851741 one_to_one +MONDO:0007533 elliptocytosis 2 http http://identifiers.org/hgnc/11272 disease_has_basis_in_dysfunction_of MONDO:0007534 Beckwith-Wiedemann syndrome DOID DOID:5572 one_to_one MONDO:0007534 Beckwith-Wiedemann syndrome GARD GARD:0003343 one_to_one MONDO:0007534 Beckwith-Wiedemann syndrome ICD10 ICD10:Q87.3 inexact @@ -42581,6 +42954,7 @@ MONDO:0007534 Beckwith-Wiedemann syndrome OMIM OMIM:130650 one_to_one MONDO:0007534 Beckwith-Wiedemann syndrome Orphanet Orphanet:116 one_to_one MONDO:0007534 Beckwith-Wiedemann syndrome SCTID SCTID:81780002 one_to_one MONDO:0007534 Beckwith-Wiedemann syndrome UMLS UMLS:C0004903 one_to_one +MONDO:0007534 Beckwith-Wiedemann syndrome http http://identifiers.org/hgnc/14234,http://identifiers.org/hgnc/1786,http://identifiers.org/hgnc/4713,http://identifiers.org/hgnc/5466,http://identifiers.org/hgnc/6294,http://identifiers.org/hgnc/6295 disease_has_basis_in_dysfunction_of MONDO:0007535 emphysema, hereditary pulmonary MESH MESH:C565057 one_to_one MONDO:0007535 emphysema, hereditary pulmonary MONDO MONDO:0003847,MONDO:0004849 subclass MONDO:0007535 emphysema, hereditary pulmonary OMIM OMIM:130700 one_to_one @@ -42603,14 +42977,15 @@ MONDO:0007537 lateral meningocele syndrome MONDO MONDO:0017085 subclass MONDO:0007537 lateral meningocele syndrome OMIM OMIM:130720 one_to_one MONDO:0007537 lateral meningocele syndrome Orphanet Orphanet:2789 one_to_one MONDO:0007537 lateral meningocele syndrome UMLS UMLS:C1851710 one_to_one +MONDO:0007537 lateral meningocele syndrome http http://identifiers.org/hgnc/7883 disease_has_basis_in_dysfunction_of MONDO:0007538 hypocalcified amelogenesis imperfecta DOID DOID:0110055 one_to_one MONDO:0007538 hypocalcified amelogenesis imperfecta ICD10 ICD10:K00.5 inexact MONDO:0007538 hypocalcified amelogenesis imperfecta MESH MESH:C562880 one_to_one MONDO:0007538 hypocalcified amelogenesis imperfecta MONDO MONDO:0003847,MONDO:0019507 subclass -MONDO:0007538 hypocalcified amelogenesis imperfecta NCBIGene NCBIGene:286077 disease_has_basis_in_dysfunction_of MONDO:0007538 hypocalcified amelogenesis imperfecta OMIM OMIM:130900 one_to_one MONDO:0007538 hypocalcified amelogenesis imperfecta Orphanet Orphanet:100032 one_to_one MONDO:0007538 hypocalcified amelogenesis imperfecta SCTID SCTID:109471001 one_to_one +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 @@ -42628,6 +43003,7 @@ MONDO:0007540 multiple endocrine neoplasia type 1 OMIM OMIM:131100 one_to_one MONDO:0007540 multiple endocrine neoplasia type 1 Orphanet Orphanet:652 one_to_one MONDO:0007540 multiple endocrine neoplasia type 1 SCTID SCTID:30664006 one_to_one MONDO:0007540 multiple endocrine neoplasia type 1 UMLS UMLS:C0025267 one_to_one +MONDO:0007540 multiple endocrine neoplasia type 1 http http://identifiers.org/hgnc/7010 disease_has_basis_in_dysfunction_of MONDO:0007541 endometriosis, susceptibility to, 1 MONDO MONDO:0003847 subclass MONDO:0007541 endometriosis, susceptibility to, 1 OMIM OMIM:131200 one_to_one MONDO:0007542 Camurati-Engelmann disease DOID DOID:4997 one_to_one @@ -42641,8 +43017,10 @@ MONDO:0007542 Camurati-Engelmann disease OMIM OMIM:131300 one_to_one MONDO:0007542 Camurati-Engelmann disease Orphanet Orphanet:1328 one_to_one MONDO:0007542 Camurati-Engelmann disease SCTID SCTID:318761000119105 one_to_one MONDO:0007542 Camurati-Engelmann disease UMLS UMLS:C0011989 one_to_one +MONDO:0007542 Camurati-Engelmann disease http http://identifiers.org/hgnc/11766 disease_has_basis_in_dysfunction_of MONDO:0007543 enolase, sperm specific MONDO MONDO:0003847 subclass MONDO:0007543 enolase, sperm specific OMIM OMIM:131375 one_to_one +MONDO:0007543 enolase, sperm specific http http://identifiers.org/hgnc/31670 disease_has_basis_in_dysfunction_of MONDO:0007544 eosinophilia, familial GARD GARD:0010521 one_to_one MONDO:0007544 eosinophilia, familial MESH MESH:C562722 one_to_one MONDO:0007544 eosinophilia, familial MONDO MONDO:0003847 subclass @@ -42655,6 +43033,8 @@ MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia MESH MESH: MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia MONDO MONDO:0019452 subclass MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia OMIM OMIM:131440 one_to_one MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia UMLS UMLS:C1851585 one_to_one +MONDO:0007546 myeloproliferative disorder, chronic, with eosinophilia http http://identifiers.org/hgnc/8804 disease_has_basis_in_dysfunction_of +MONDO:0007547 epidermoid cysts EFO EFO:1000243 one_to_one MONDO:0007547 epidermoid cysts MONDO MONDO:0003847 subclass MONDO:0007547 epidermoid cysts NCIT NCIT:C3134 one_to_one MONDO:0007547 epidermoid cysts OMIM OMIM:131600 one_to_one @@ -42666,6 +43046,7 @@ MONDO:0007548 transient bullous dermolysis of the newborn MONDO MONDO:0017608 su MONDO:0007548 transient bullous dermolysis of the newborn OMIM OMIM:131705 one_to_one MONDO:0007548 transient bullous dermolysis of the newborn Orphanet Orphanet:79411 one_to_one MONDO:0007548 transient bullous dermolysis of the newborn UMLS UMLS:C1851573 one_to_one +MONDO:0007548 transient bullous dermolysis of the newborn http http://identifiers.org/hgnc/2214 disease_has_basis_in_dysfunction_of MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa DOID DOID:0080224 one_to_one MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa GARD GARD:0002139 one_to_one MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa ICD10 ICD10:Q81.2 inexact @@ -42674,6 +43055,7 @@ MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO MONDO: MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa OMIM OMIM:131750 one_to_one MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa Orphanet Orphanet:231568 one_to_one MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa SCTID SCTID:75875004 one_to_one +MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa http http://identifiers.org/hgnc/2214 disease_has_basis_in_dysfunction_of MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type DOID DOID:0060735 one_to_one MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type GARD GARD:0002141 one_to_one MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type ICD10 ICD10:Q81.0 inexact @@ -42682,6 +43064,7 @@ MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type MONDO MONDO:00155 MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type OMIM OMIM:131760 one_to_one MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type Orphanet Orphanet:79396 one_to_one MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type SCTID SCTID:254179000 one_to_one +MONDO:0007550 epidermolysis bullosa simplex Dowling-Meara type http http://identifiers.org/hgnc/6416,http://identifiers.org/hgnc/6442 disease_has_basis_in_dysfunction_of MONDO:0007551 localized epidermolysis bullosa simplex GARD GARD:0002146 one_to_one MONDO:0007551 localized epidermolysis bullosa simplex ICD10 ICD10:Q81.0 inexact MONDO:0007551 localized epidermolysis bullosa simplex ICD9 ICD9:757.39 inexact @@ -42689,6 +43072,7 @@ MONDO:0007551 localized epidermolysis bullosa simplex MONDO MONDO:0015551 subcla MONDO:0007551 localized epidermolysis bullosa simplex OMIM OMIM:131800 one_to_one MONDO:0007551 localized epidermolysis bullosa simplex Orphanet Orphanet:79400 one_to_one MONDO:0007551 localized epidermolysis bullosa simplex SCTID SCTID:294705005 one_to_one +MONDO:0007551 localized epidermolysis bullosa simplex http http://identifiers.org/hgnc/6158,http://identifiers.org/hgnc/6416,http://identifiers.org/hgnc/6442 disease_has_basis_in_dysfunction_of MONDO:0007552 pretibial dystrophic epidermolysis bullosa GARD GARD:0002155 one_to_one MONDO:0007552 pretibial dystrophic epidermolysis bullosa ICD10 ICD10:Q81.2 inexact MONDO:0007552 pretibial dystrophic epidermolysis bullosa ICD9 ICD9:757.39 inexact @@ -42697,6 +43081,7 @@ MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO MONDO:0006543,MON MONDO:0007552 pretibial dystrophic epidermolysis bullosa OMIM OMIM:131850 one_to_one MONDO:0007552 pretibial dystrophic epidermolysis bullosa Orphanet Orphanet:79410 one_to_one MONDO:0007552 pretibial dystrophic epidermolysis bullosa SCTID SCTID:67653003 one_to_one +MONDO:0007552 pretibial dystrophic epidermolysis bullosa http http://identifiers.org/hgnc/2214 disease_has_basis_in_dysfunction_of MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase MESH MESH:C565049 one_to_one MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase MONDO MONDO:0003847 subclass MONDO:0007553 epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase OMIM OMIM:131880 one_to_one @@ -42708,6 +43093,7 @@ MONDO:0007554 generalized epidermolysis bullosa simplex, non-Dowling-Meara type MONDO:0007554 generalized epidermolysis bullosa simplex, non-Dowling-Meara type OMIM OMIM:131900 one_to_one MONDO:0007554 generalized epidermolysis bullosa simplex, non-Dowling-Meara type Orphanet Orphanet:79399 one_to_one MONDO:0007554 generalized epidermolysis bullosa simplex, non-Dowling-Meara type SCTID SCTID:90496008 one_to_one +MONDO:0007554 generalized epidermolysis bullosa simplex, non-Dowling-Meara type http http://identifiers.org/hgnc/6416,http://identifiers.org/hgnc/6442 disease_has_basis_in_dysfunction_of MONDO:0007555 epidermolysis bullosa simplex Ogna type DOID DOID:0060736 one_to_one MONDO:0007555 epidermolysis bullosa simplex Ogna type GARD GARD:0002148 one_to_one MONDO:0007555 epidermolysis bullosa simplex Ogna type ICD10 ICD10:Q81.0 inexact @@ -42717,6 +43103,7 @@ MONDO:0007555 epidermolysis bullosa simplex Ogna type MONDO MONDO:0015551 subcla MONDO:0007555 epidermolysis bullosa simplex Ogna type OMIM OMIM:131950 one_to_one MONDO:0007555 epidermolysis bullosa simplex Ogna type Orphanet Orphanet:79401 one_to_one MONDO:0007555 epidermolysis bullosa simplex Ogna type SCTID SCTID:398071000 one_to_one +MONDO:0007555 epidermolysis bullosa simplex Ogna type http http://identifiers.org/hgnc/9069 disease_has_basis_in_dysfunction_of MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation GARD GARD:0009737 one_to_one MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation ICD10 ICD10:Q81.0 inexact MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation ICD9 ICD9:757.39 inexact @@ -42725,11 +43112,13 @@ MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation MONDO MOND MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation OMIM OMIM:131960 one_to_one MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation Orphanet Orphanet:79397 one_to_one MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation SCTID SCTID:254180002 one_to_one +MONDO:0007556 epidermolysis bullosa simplex with mottled pigmentation http http://identifiers.org/hgnc/6442 disease_has_basis_in_dysfunction_of MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails ICD9 ICD9:757.39 inexact MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails MESH MESH:C562638 one_to_one MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails MONDO MONDO:0003847 subclass MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails OMIM OMIM:132000 one_to_one MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails SCTID SCTID:2689001 one_to_one +MONDO:0007557 epidermolysis bullosa with congenital localized absence of skin and deformity of nails http http://identifiers.org/hgnc/2214 disease_has_basis_in_dysfunction_of MONDO:0007558 benign occipital epilepsy GARD GARD:0002170 one_to_one MONDO:0007558 benign occipital epilepsy ICD10 ICD10:G40.0 inexact MONDO:0007558 benign occipital epilepsy MONDO MONDO:0020072 subclass @@ -42751,9 +43140,10 @@ MONDO:0007561 multiple epiphyseal dysplasia type 1 OMIM OMIM:132400 one_to_one MONDO:0007561 multiple epiphyseal dysplasia type 1 Orphanet Orphanet:93308 one_to_one MONDO:0007561 multiple epiphyseal dysplasia type 1 SCTID SCTID:715673002 one_to_one MONDO:0007561 multiple epiphyseal dysplasia type 1 UMLS UMLS:C1838280,UMLS:C4275061 inexact +MONDO:0007561 multiple epiphyseal dysplasia type 1 http http://identifiers.org/hgnc/2227 disease_has_basis_in_dysfunction_of MONDO:0007562 multiple epiphyseal dysplasia, Beighton type ICD10 ICD10:Q77.3 inexact MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MESH MESH:C565046 one_to_one -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO MONDO:0015960,MONDO:0016648,MONDO:0019686 subclass +MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO MONDO:0015960,MONDO:0016648,MONDO:0019686,MONDO:0022800 subclass MONDO:0007562 multiple epiphyseal dysplasia, Beighton type OMIM OMIM:132450 one_to_one MONDO:0007562 multiple epiphyseal dysplasia, Beighton type Orphanet Orphanet:166011 one_to_one MONDO:0007562 multiple epiphyseal dysplasia, Beighton type SCTID SCTID:719689005 one_to_one @@ -42764,6 +43154,7 @@ 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 MONDO:0007564 pilomatrixoma DOID DOID:5374 one_to_one +MONDO:0007564 pilomatrixoma EFO EFO:0009082 one_to_one MONDO:0007564 pilomatrixoma GARD GARD:0009452 one_to_one MONDO:0007564 pilomatrixoma ICD10 ICD10:C44.3,ICD10:C44.6 inexact MONDO:0007564 pilomatrixoma ICDO ICDO:8110/0 one_to_one @@ -42776,6 +43167,7 @@ MONDO:0007564 pilomatrixoma OMIM OMIM:132600 one_to_one MONDO:0007564 pilomatrixoma Orphanet Orphanet:91414 one_to_one MONDO:0007564 pilomatrixoma SCTID SCTID:274901004 one_to_one MONDO:0007564 pilomatrixoma UMLS UMLS:C0206711,UMLS:C0853031 inexact +MONDO:0007564 pilomatrixoma http http://identifiers.org/hgnc/2514,http://identifiers.org/hgnc/7527 disease_has_basis_in_dysfunction_of MONDO:0007565 familial cylindromatosis GARD GARD:0009707 one_to_one MONDO:0007565 familial cylindromatosis MESH MESH:C536611 one_to_one MONDO:0007565 familial cylindromatosis MONDO MONDO:0011512 subclass @@ -42792,13 +43184,16 @@ MONDO:0007566 multiple self-healing squamous epithelioma OMIM OMIM:132800 one_to MONDO:0007566 multiple self-healing squamous epithelioma Orphanet Orphanet:65748 one_to_one MONDO:0007566 multiple self-healing squamous epithelioma SCTID SCTID:254659009 one_to_one MONDO:0007566 multiple self-healing squamous epithelioma UMLS UMLS:C0345982 one_to_one +MONDO:0007566 multiple self-healing squamous epithelioma http http://identifiers.org/hgnc/11772 disease_has_basis_in_dysfunction_of MONDO:0007567 Epstein-Barr virus insertion site 1 MONDO MONDO:0003847 subclass MONDO:0007567 Epstein-Barr virus insertion site 1 OMIM OMIM:132850 one_to_one +MONDO:0007567 Epstein-Barr virus insertion site 1 http http://identifiers.org/hgnc/3143 disease_has_basis_in_dysfunction_of MONDO:0007568 aortic aneurysm, familial thoracic 4 GARD GARD:0009876 one_to_one MONDO:0007568 aortic aneurysm, familial thoracic 4 MESH MESH:C537784 one_to_one -MONDO:0007568 aortic aneurysm, familial thoracic 4 MONDO MONDO:0011769 subclass +MONDO:0007568 aortic aneurysm, familial thoracic 4 MONDO MONDO:0011769,MONDO:0019625 subclass MONDO:0007568 aortic aneurysm, familial thoracic 4 OMIM OMIM:132900 one_to_one MONDO:0007568 aortic aneurysm, familial thoracic 4 UMLS UMLS:C1851504 one_to_one +MONDO:0007568 aortic aneurysm, familial thoracic 4 http http://identifiers.org/hgnc/7569 disease_has_basis_in_dysfunction_of MONDO:0007569 erythema nodosum, familial GARD GARD:0009259 one_to_one MONDO:0007569 erythema nodosum, familial MESH MESH:C535510 one_to_one MONDO:0007569 erythema nodosum, familial MONDO MONDO:0003847 subclass @@ -42818,6 +43213,7 @@ MONDO:0007571 primary erythermalgia OMIM OMIM:133020 one_to_one MONDO:0007571 primary erythermalgia Orphanet Orphanet:90026 one_to_one MONDO:0007571 primary erythermalgia SCTID SCTID:709489006 one_to_one MONDO:0007571 primary erythermalgia UMLS UMLS:C0014805 one_to_one +MONDO:0007571 primary erythermalgia http http://identifiers.org/hgnc/10597 disease_has_basis_in_dysfunction_of MONDO:0007572 primary familial polycythemia due to EPO mutation DOID DOID:0060652 one_to_one MONDO:0007572 primary familial polycythemia due to EPO mutation GARD GARD:0009843 one_to_one MONDO:0007572 primary familial polycythemia due to EPO mutation ICD10 ICD10:D75.0 inexact @@ -42826,6 +43222,7 @@ MONDO:0007572 primary familial polycythemia due to EPO mutation MONDO MONDO:0001 MONDO:0007572 primary familial polycythemia due to EPO mutation OMIM OMIM:133100 one_to_one MONDO:0007572 primary familial polycythemia due to EPO mutation Orphanet Orphanet:90042 one_to_one MONDO:0007572 primary familial polycythemia due to EPO mutation SCTID SCTID:17342003 one_to_one +MONDO:0007572 primary familial polycythemia due to EPO mutation http http://identifiers.org/hgnc/29605,http://identifiers.org/hgnc/3416,http://identifiers.org/hgnc/6192 disease_has_basis_in_dysfunction_of MONDO:0007573 acute erythroleukemia, familial EFO EFO:0000218 one_to_one MONDO:0007573 acute erythroleukemia, familial ICD9 ICD9:207.0 one_to_one MONDO:0007573 acute erythroleukemia, familial MESH MESH:C565039 one_to_one @@ -42852,6 +43249,7 @@ MONDO:0007576 esophageal cancer OMIM OMIM:133239 one_to_one MONDO:0007576 esophageal cancer SCTID SCTID:363402007 one_to_one MONDO:0007576 esophageal cancer UBERON UBERON:0001043 disease_has_location MONDO:0007576 esophageal cancer UMLS UMLS:C0546837 one_to_one +MONDO:0007576 esophageal cancer http http://identifiers.org/hgnc/10069,http://identifiers.org/hgnc/11773,http://identifiers.org/hgnc/13861,http://identifiers.org/hgnc/23658,http://identifiers.org/hgnc/2701,http://identifiers.org/hgnc/2899 disease_has_basis_in_dysfunction_of MONDO:0007577 esophageal ring, lower ICD9 ICD9:750.3 inexact MONDO:0007577 esophageal ring, lower MESH MESH:C562765 one_to_one MONDO:0007577 esophageal ring, lower MONDO MONDO:0003847 subclass @@ -42881,11 +43279,13 @@ MONDO:0007584 exostoses-anetodermia-brachydactyly type E syndrome UMLS UMLS:C185 MONDO:0007585 exostoses, multiple, type 1 GARD GARD:0002204 one_to_one MONDO:0007585 exostoses, multiple, type 1 MONDO MONDO:0000024 subclass MONDO:0007585 exostoses, multiple, type 1 OMIM OMIM:133700 one_to_one +MONDO:0007585 exostoses, multiple, type 1 http http://identifiers.org/hgnc/3512 disease_has_basis_in_dysfunction_of MONDO:0007586 exostoses, multiple, type 2 GARD GARD:0002205 one_to_one MONDO:0007586 exostoses, multiple, type 2 MONDO MONDO:0000024 subclass MONDO:0007586 exostoses, multiple, type 2 NCIT NCIT:C18252 one_to_one MONDO:0007586 exostoses, multiple, type 2 OMIM OMIM:133701 one_to_one MONDO:0007586 exostoses, multiple, type 2 UMLS UMLS:C1851413 one_to_one +MONDO:0007586 exostoses, multiple, type 2 http http://identifiers.org/hgnc/3513 disease_has_basis_in_dysfunction_of MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome GARD GARD:0004638 one_to_one MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007587 external auditory canal atresia-vertical talus-hypertelorism syndrome MONDO MONDO:0015502,MONDO:0018455,MONDO:0043008 subclass @@ -42901,6 +43301,7 @@ MONDO:0007589 exudative vitreoretinopathy 1 MESH MESH:C536382 one_to_one MONDO:0007589 exudative vitreoretinopathy 1 MONDO MONDO:0019516 subclass MONDO:0007589 exudative vitreoretinopathy 1 OMIM OMIM:133780 one_to_one MONDO:0007589 exudative vitreoretinopathy 1 UMLS UMLS:C1851402 one_to_one +MONDO:0007589 exudative vitreoretinopathy 1 http http://identifiers.org/hgnc/4042,http://identifiers.org/hgnc/6697 disease_has_basis_in_dysfunction_of MONDO:0007590 hemifacial hypertrophy ICD10 ICD10:Q67.4 inexact MONDO:0007590 hemifacial hypertrophy MONDO MONDO:0015496 subclass MONDO:0007590 hemifacial hypertrophy OMIM OMIM:133900 one_to_one @@ -42952,8 +43353,10 @@ MONDO:0007601 familial Mediterranean fever, autosomal dominant MESH MESH:C565021 MONDO:0007601 familial Mediterranean fever, autosomal dominant MONDO MONDO:0018088 subclass MONDO:0007601 familial Mediterranean fever, autosomal dominant OMIM OMIM:134610 one_to_one MONDO:0007601 familial Mediterranean fever, autosomal dominant UMLS UMLS:C1851347 one_to_one +MONDO:0007601 familial Mediterranean fever, autosomal dominant http http://identifiers.org/hgnc/6998 disease_has_basis_in_dysfunction_of MONDO:0007602 favism, susceptibility to MONDO MONDO:0003847 subclass MONDO:0007602 favism, susceptibility to OMIM OMIM:134700 one_to_one +MONDO:0007602 favism, susceptibility to http http://identifiers.org/hgnc/4057 disease_has_basis_in_dysfunction_of MONDO:0007603 Felty syndrome COHD COHD:81097 one_to_one MONDO:0007603 Felty syndrome DOID DOID:11042 one_to_one MONDO:0007603 Felty syndrome EFO EFO:0007269 one_to_one @@ -42992,6 +43395,7 @@ MONDO:0007606 fibrodysplasia ossificans progressiva OMIM OMIM:135100 one_to_one MONDO:0007606 fibrodysplasia ossificans progressiva Orphanet Orphanet:337 one_to_one MONDO:0007606 fibrodysplasia ossificans progressiva SCTID SCTID:82725007 one_to_one MONDO:0007606 fibrodysplasia ossificans progressiva UMLS UMLS:C0016037 one_to_one +MONDO:0007606 fibrodysplasia ossificans progressiva http http://identifiers.org/hgnc/171 disease_has_basis_in_dysfunction_of MONDO:0007607 Birt-Hogg-Dube syndrome DOID DOID:0050676 one_to_one MONDO:0007607 Birt-Hogg-Dube syndrome EFO EFO:1001273 one_to_one MONDO:0007607 Birt-Hogg-Dube syndrome GARD GARD:0002322 one_to_one @@ -43004,6 +43408,7 @@ MONDO:0007607 Birt-Hogg-Dube syndrome OMIM OMIM:135150 one_to_one MONDO:0007607 Birt-Hogg-Dube syndrome Orphanet Orphanet:122 one_to_one MONDO:0007607 Birt-Hogg-Dube syndrome SCTID SCTID:110985001 one_to_one MONDO:0007607 Birt-Hogg-Dube syndrome UMLS UMLS:C0346010 one_to_one +MONDO:0007607 Birt-Hogg-Dube syndrome http http://identifiers.org/hgnc/27310 disease_has_basis_in_dysfunction_of MONDO:0007608 desmoid tumor GARD GARD:0001820 one_to_one MONDO:0007608 desmoid tumor ICD10 ICD10:D48.1 inexact MONDO:0007608 desmoid tumor ICDO ICDO:8821/1 one_to_one @@ -43014,10 +43419,12 @@ MONDO:0007608 desmoid tumor OMIM OMIM:135290 one_to_one MONDO:0007608 desmoid tumor ONCOTREE ONCOTREE:DES one_to_one MONDO:0007608 desmoid tumor Orphanet Orphanet:873 one_to_one MONDO:0007608 desmoid tumor UMLS UMLS:C0079218,UMLS:C1851124,UMLS:CN072436 inexact +MONDO:0007608 desmoid tumor http http://identifiers.org/hgnc/583 disease_has_basis_in_dysfunction_of MONDO:0007609 fibromatosis, gingival, 1 GARD GARD:0006509 one_to_one MONDO:0007609 fibromatosis, gingival, 1 MONDO MONDO:0016070 subclass MONDO:0007609 fibromatosis, gingival, 1 OMIM OMIM:135300 one_to_one MONDO:0007609 fibromatosis, gingival, 1 UMLS UMLS:CN030594 one_to_one +MONDO:0007609 fibromatosis, gingival, 1 http http://identifiers.org/hgnc/11187 disease_has_basis_in_dysfunction_of MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome GARD GARD:0002324 one_to_one MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome ICD10 ICD10:L68.8 one_to_one MONDO:0007610 gingival fibromatosis-hypertrichosis syndrome MESH MESH:C565016 one_to_one @@ -43053,6 +43460,7 @@ MONDO:0007615 laurin-Sandrow syndrome MONDO MONDO:0017434 subclass MONDO:0007615 laurin-Sandrow syndrome OMIM OMIM:135750 one_to_one MONDO:0007615 laurin-Sandrow syndrome Orphanet Orphanet:2378 one_to_one MONDO:0007615 laurin-Sandrow syndrome SCTID SCTID:715440003 one_to_one +MONDO:0007615 laurin-Sandrow syndrome http http://identifiers.org/hgnc/13243 disease_has_basis_in_dysfunction_of MONDO:0007616 fibula, recurrent dislocation of head of MESH MESH:C565011 one_to_one MONDO:0007616 fibula, recurrent dislocation of head of MONDO MONDO:0003847 subclass MONDO:0007616 fibula, recurrent dislocation of head of OMIM OMIM:135800 one_to_one @@ -43060,6 +43468,7 @@ MONDO:0007616 fibula, recurrent dislocation of head of UMLS UMLS:C1851099 one_to MONDO:0007617 Coffin-Siris syndrome 1 MONDO MONDO:0015452 subclass MONDO:0007617 Coffin-Siris syndrome 1 OMIM OMIM:135900 one_to_one MONDO:0007617 Coffin-Siris syndrome 1 UMLS UMLS:CN029606 one_to_one +MONDO:0007617 Coffin-Siris syndrome 1 http http://identifiers.org/hgnc/18040 disease_has_basis_in_dysfunction_of MONDO:0007618 Eng-Strom syndrome ICD10 ICD10:Q87.1 inexact MONDO:0007618 Eng-Strom syndrome MONDO MONDO:0015329,MONDO:0015960 subclass MONDO:0007618 Eng-Strom syndrome OMIM OMIM:135950 one_to_one @@ -43071,6 +43480,7 @@ MONDO:0007619 isolated congenital adermatoglyphia MESH MESH:C565010 one_to_one MONDO:0007619 isolated congenital adermatoglyphia MONDO MONDO:0015331 subclass MONDO:0007619 isolated congenital adermatoglyphia OMIM OMIM:136000 one_to_one MONDO:0007619 isolated congenital adermatoglyphia Orphanet Orphanet:289465 one_to_one +MONDO:0007619 isolated congenital adermatoglyphia http http://identifiers.org/hgnc/18398 disease_has_basis_in_dysfunction_of MONDO:0007620 fish-eye disease GARD GARD:0006450 one_to_one MONDO:0007620 fish-eye disease ICD10 ICD10:E78.6 inexact MONDO:0007620 fish-eye disease MONDO MONDO:0018999 subclass @@ -43078,6 +43488,7 @@ MONDO:0007620 fish-eye disease OMIM OMIM:136120 one_to_one MONDO:0007620 fish-eye disease Orphanet Orphanet:79292 one_to_one MONDO:0007620 fish-eye disease SCTID SCTID:238092004 one_to_one MONDO:0007620 fish-eye disease UMLS UMLS:C0342895 one_to_one +MONDO:0007620 fish-eye disease http http://identifiers.org/hgnc/6522 disease_has_basis_in_dysfunction_of 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 @@ -43087,6 +43498,7 @@ 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 MONDO:0007621 floating-Harbor syndrome UMLS UMLS:C0729582 one_to_one +MONDO:0007621 floating-Harbor syndrome http http://identifiers.org/hgnc/16974 disease_has_basis_in_dysfunction_of MONDO:0007622 flood factor deficiency MESH MESH:C565009 one_to_one MONDO:0007622 flood factor deficiency MONDO MONDO:0002242,MONDO:0021181 subclass MONDO:0007622 flood factor deficiency OMIM OMIM:136150 one_to_one @@ -43124,6 +43536,7 @@ MONDO:0007628 foveal hypoplasia 1 GARD GARD:0000406 one_to_one MONDO:0007628 foveal hypoplasia 1 MONDO MONDO:0044203 subclass MONDO:0007628 foveal hypoplasia 1 OMIM OMIM:136520 one_to_one MONDO:0007628 foveal hypoplasia 1 UMLS UMLS:C3805604 one_to_one +MONDO:0007628 foveal hypoplasia 1 http http://identifiers.org/hgnc/8620 disease_has_basis_in_dysfunction_of MONDO:0007629 fragile site 10Q23 MONDO MONDO:0003847 subclass MONDO:0007629 fragile site 10Q23 OMIM OMIM:136540 one_to_one MONDO:0007629 fragile site 10Q23 UMLS UMLS:C1850987 one_to_one @@ -43140,8 +43553,10 @@ MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb MESH MESH:C565001 one_ MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb MONDO MONDO:0000761,MONDO:0002254 subclass MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb NCIT NCIT:C129875 one_to_one MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb OMIM OMIM:136570 one_to_one +MONDO:0007631 chromosome 16p12.1 deletion syndrome, 520kb http http://identifiers.org/hgnc/3861 disease_has_basis_in_dysfunction_of MONDO:0007632 fragile site, Distamycin a type, rare, fra(16)(q22.1) MONDO MONDO:0003847 subclass MONDO:0007632 fragile site, Distamycin a type, rare, fra(16)(q22.1) OMIM OMIM:136580 one_to_one +MONDO:0007632 fragile site, Distamycin a type, rare, fra(16)(q22.1) http http://identifiers.org/hgnc/3858 disease_has_basis_in_dysfunction_of MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness MESH MESH:C564999 one_to_one MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness MONDO MONDO:0003847 subclass MONDO:0007633 Friedreich ataxia, so-called, with optic atrophy and sensorineural deafness OMIM OMIM:136600 one_to_one @@ -43150,6 +43565,7 @@ MONDO:0007634 intellectual disability, FRA12A type MESH MESH:C566980 one_to_one MONDO:0007634 intellectual disability, FRA12A type MONDO MONDO:0003847 subclass MONDO:0007634 intellectual disability, FRA12A type OMIM OMIM:136630 one_to_one MONDO:0007634 intellectual disability, FRA12A type UMLS UMLS:C1969893 one_to_one +MONDO:0007634 intellectual disability, FRA12A type http http://identifiers.org/hgnc/29284 disease_has_basis_in_dysfunction_of MONDO:0007635 Frasier syndrome DOID DOID:0050438 one_to_one MONDO:0007635 Frasier syndrome GARD GARD:0002375 one_to_one MONDO:0007635 Frasier syndrome ICD10 ICD10:N04.1 inexact @@ -43161,15 +43577,18 @@ MONDO:0007635 Frasier syndrome OMIM OMIM:136680 one_to_one MONDO:0007635 Frasier syndrome Orphanet Orphanet:347 one_to_one MONDO:0007635 Frasier syndrome SCTID SCTID:445431000 one_to_one MONDO:0007635 Frasier syndrome UMLS UMLS:C0950122 one_to_one +MONDO:0007635 Frasier syndrome http http://identifiers.org/hgnc/12796 disease_has_basis_in_dysfunction_of MONDO:0007636 frontorhiny GARD GARD:0012642 one_to_one MONDO:0007636 frontorhiny ICD10 ICD10:Q75.8 inexact MONDO:0007636 frontorhiny MONDO MONDO:0015412,MONDO:0015961,MONDO:0016643 subclass MONDO:0007636 frontorhiny OMIM OMIM:136760 one_to_one MONDO:0007636 frontorhiny Orphanet Orphanet:391474 one_to_one +MONDO:0007636 frontorhiny http http://identifiers.org/hgnc/449 disease_has_basis_in_dysfunction_of MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 MESH MESH:C535478 one_to_one MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 MONDO MONDO:0005321 subclass MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 OMIM OMIM:136800 one_to_one MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 UMLS UMLS:C1850959 one_to_one +MONDO:0007637 corneal dystrophy, Fuchs endothelial, 1 http http://identifiers.org/hgnc/2216 disease_has_basis_in_dysfunction_of MONDO:0007638 fucosidase regulator MONDO MONDO:0003847 subclass MONDO:0007638 fucosidase regulator OMIM OMIM:136830 one_to_one MONDO:0007639 fundus albipunctatus COHD COHD:373472 one_to_one @@ -43181,6 +43600,7 @@ MONDO:0007639 fundus albipunctatus MONDO MONDO:0016420 subclass MONDO:0007639 fundus albipunctatus OMIM OMIM:136880 one_to_one MONDO:0007639 fundus albipunctatus Orphanet Orphanet:227796 one_to_one MONDO:0007639 fundus albipunctatus SCTID SCTID:68222009 one_to_one +MONDO:0007639 fundus albipunctatus http http://identifiers.org/hgnc/10012,http://identifiers.org/hgnc/10024,http://identifiers.org/hgnc/9940,http://identifiers.org/hgnc/9942 disease_has_basis_in_dysfunction_of MONDO:0007640 Sorsby's fundus dystrophy DOID DOID:0090114 one_to_one MONDO:0007640 Sorsby's fundus dystrophy GARD GARD:0010511 one_to_one MONDO:0007640 Sorsby's fundus dystrophy ICD10 ICD10:H35.5 inexact @@ -43189,6 +43609,7 @@ MONDO:0007640 Sorsby's fundus dystrophy MONDO MONDO:0004589,MONDO:0020244 subcla MONDO:0007640 Sorsby's fundus dystrophy OMIM OMIM:136900 one_to_one MONDO:0007640 Sorsby's fundus dystrophy Orphanet Orphanet:59181 one_to_one MONDO:0007640 Sorsby's fundus dystrophy SCTID SCTID:193410003 one_to_one +MONDO:0007640 Sorsby's fundus dystrophy http http://identifiers.org/hgnc/11822 disease_has_basis_in_dysfunction_of MONDO:0007641 Futcher line MONDO MONDO:0003847 subclass MONDO:0007641 Futcher line OMIM OMIM:137000 one_to_one MONDO:0007642 isolated agenesis of gallbladder ICD10 ICD10:Q44.0 one_to_one @@ -43217,6 +43638,7 @@ MONDO:0007646 Gamstorp-Wohlfart syndrome OMIM OMIM:137200 one_to_one MONDO:0007646 Gamstorp-Wohlfart syndrome Orphanet Orphanet:324442 one_to_one MONDO:0007646 Gamstorp-Wohlfart syndrome SCTID SCTID:711406009 one_to_one MONDO:0007646 Gamstorp-Wohlfart syndrome UMLS UMLS:CN074193 one_to_one +MONDO:0007646 Gamstorp-Wohlfart syndrome http http://identifiers.org/hgnc/4912 disease_has_basis_in_dysfunction_of MONDO:0007647 gastric volvulus, intrathoracic MESH MESH:C564989 one_to_one MONDO:0007647 gastric volvulus, intrathoracic MONDO MONDO:0003847 subclass MONDO:0007647 gastric volvulus, intrathoracic OMIM OMIM:137210 one_to_one @@ -43230,6 +43652,7 @@ MONDO:0007648 hereditary diffuse gastric adenocarcinoma OMIM OMIM:137215 one_to_ MONDO:0007648 hereditary diffuse gastric adenocarcinoma Orphanet Orphanet:26106 one_to_one MONDO:0007648 hereditary diffuse gastric adenocarcinoma SCTID SCTID:716859000 one_to_one MONDO:0007648 hereditary diffuse gastric adenocarcinoma UMLS UMLS:C1708349 one_to_one +MONDO:0007648 hereditary diffuse gastric adenocarcinoma http http://identifiers.org/hgnc/1748,http://identifiers.org/hgnc/5992,http://identifiers.org/hgnc/6000,http://identifiers.org/hgnc/6407 disease_has_basis_in_dysfunction_of MONDO:0007649 gastric juice peptides MONDO MONDO:0003847 subclass MONDO:0007649 gastric juice peptides OMIM OMIM:137220 one_to_one MONDO:0007650 MALT lymphoma COHD COHD:40482893 one_to_one @@ -43244,11 +43667,13 @@ MONDO:0007650 MALT lymphoma MedDRA MedDRA:10060707 one_to_one MONDO:0007650 MALT lymphoma NCIT NCIT:C38730 has_finding MONDO:0007650 MALT lymphoma NCIT NCIT:C3898 one_to_one MONDO:0007650 MALT lymphoma OMIM OMIM:137245 one_to_one +MONDO:0007650 MALT lymphoma ONCOTREE ONCOTREE:EMALT one_to_one MONDO:0007650 MALT lymphoma Orphanet Orphanet:52417 one_to_one MONDO:0007650 MALT lymphoma SCTID SCTID:277622004 one_to_one MONDO:0007650 MALT lymphoma UBERON UBERON:0001961 disease_has_location MONDO:0007650 MALT lymphoma UMLS UMLS:C0242647,UMLS:C1850900 inexact MONDO:0007650 MALT lymphoma Wikipedia Wikipedia:MALT_lymphoma one_to_one +MONDO:0007650 MALT lymphoma http http://identifiers.org/hgnc/989 disease_has_basis_in_dysfunction_of MONDO:0007651 gastrocutaneous syndrome GARD GARD:0002438 one_to_one MONDO:0007651 gastrocutaneous syndrome MESH MESH:C535651 one_to_one MONDO:0007651 gastrocutaneous syndrome MONDO MONDO:0019289 subclass @@ -43302,6 +43727,7 @@ MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome OMIM OMIM:137440 one_to_on MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome Orphanet Orphanet:356 one_to_one MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome SCTID SCTID:67155006 one_to_one MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome UMLS UMLS:C0017495 one_to_one +MONDO:0007656 Gerstmann-Straussler-Scheinker syndrome http http://identifiers.org/hgnc/9449 disease_has_basis_in_dysfunction_of MONDO:0007657 giant neutrophil leukocytes MONDO MONDO:0003847 subclass MONDO:0007657 giant neutrophil leukocytes OMIM OMIM:137500 one_to_one MONDO:0007657 giant neutrophil leukocytes UMLS UMLS:C1842039 one_to_one @@ -43327,12 +43753,13 @@ MONDO:0007661 Tourette syndrome MONDO MONDO:0002254,MONDO:0002420,MONDO:0003847, 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 +MONDO:0007661 Tourette syndrome http http://identifiers.org/hgnc/20297,http://identifiers.org/hgnc/4855 disease_has_basis_in_dysfunction_of MONDO:0007662 anterior segment dysgenesis 4 DOID DOID:0050786 one_to_one MONDO:0007662 anterior segment dysgenesis 4 GARD GARD:0003026 one_to_one MONDO:0007662 anterior segment dysgenesis 4 MONDO MONDO:0011119,MONDO:0019503,MONDO:0019628 subclass -MONDO:0007662 anterior segment dysgenesis 4 NCBIGene NCBIGene:5308 disease_has_basis_in_dysfunction_of MONDO:0007662 anterior segment dysgenesis 4 OMIM OMIM:137600 one_to_one MONDO:0007662 anterior segment dysgenesis 4 UMLS UMLS:C1842031 one_to_one +MONDO:0007662 anterior segment dysgenesis 4 http http://identifiers.org/hgnc/9005 disease_has_basis_in_dysfunction_of MONDO:0007663 glaucoma with elevated episcleral venous pressure MESH MESH:C564235 one_to_one MONDO:0007663 glaucoma with elevated episcleral venous pressure MONDO MONDO:0018174 subclass MONDO:0007663 glaucoma with elevated episcleral venous pressure OMIM OMIM:137700 one_to_one @@ -43342,6 +43769,7 @@ MONDO:0007664 glaucoma 1, open angle, A MESH MESH:C564234 one_to_one MONDO:0007664 glaucoma 1, open angle, A MONDO MONDO:0020367 subclass MONDO:0007664 glaucoma 1, open angle, A OMIM OMIM:137750 one_to_one MONDO:0007664 glaucoma 1, open angle, A UMLS UMLS:C1842028 one_to_one +MONDO:0007664 glaucoma 1, open angle, A http http://identifiers.org/hgnc/7610 disease_has_basis_in_dysfunction_of MONDO:0007665 primary open angle glaucoma COHD COHD:435262 one_to_one MONDO:0007665 primary open angle glaucoma DOID DOID:1070 one_to_one MONDO:0007665 primary open angle glaucoma ICD10 ICD10:H40.1,ICD10:H40.11 inexact @@ -43351,6 +43779,7 @@ MONDO:0007665 primary open angle glaucoma MONDO MONDO:0005338,MONDO:0018174 subc MONDO:0007665 primary open angle glaucoma NCIT NCIT:C35394 one_to_one MONDO:0007665 primary open angle glaucoma OMIM OMIM:137760 one_to_one MONDO:0007665 primary open angle glaucoma SCTID SCTID:77075001 one_to_one +MONDO:0007665 primary open angle glaucoma http http://identifiers.org/hgnc/17142 disease_has_basis_in_dysfunction_of MONDO:0007666 glaucoma-sleep apnea syndrome GARD GARD:0002483 one_to_one MONDO:0007666 glaucoma-sleep apnea syndrome MESH MESH:C564232 one_to_one MONDO:0007666 glaucoma-sleep apnea syndrome MONDO MONDO:0015218,MONDO:0020222 subclass @@ -43365,6 +43794,7 @@ MONDO:0007667 subependymoma ICDO ICDO:9383/1 one_to_one MONDO:0007667 subependymoma MESH MESH:D018315 one_to_one MONDO:0007667 subependymoma MONDO MONDO:0016697 subclass MONDO:0007667 subependymoma NCIT NCIT:C3795 one_to_one +MONDO:0007667 subependymoma ONCOTREE ONCOTREE:SUBE one_to_one MONDO:0007667 subependymoma Orphanet Orphanet:251639 one_to_one MONDO:0007667 subependymoma UMLS UMLS:C0206725 one_to_one MONDO:0007668 globulin anomaly involving beta (2A)-globulin MESH MESH:C564229 one_to_one @@ -43381,6 +43811,7 @@ MONDO:0007669 renal cysts and diabetes syndrome OMIM OMIM:137920 one_to_one MONDO:0007669 renal cysts and diabetes syndrome Orphanet Orphanet:93111 one_to_one MONDO:0007669 renal cysts and diabetes syndrome SCTID SCTID:446641003 one_to_one MONDO:0007669 renal cysts and diabetes syndrome UMLS UMLS:C0431693,UMLS:CN206512 inexact +MONDO:0007669 renal cysts and diabetes syndrome http http://identifiers.org/hgnc/11630 disease_has_basis_in_dysfunction_of MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) GARD GARD:0012827 one_to_one MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) MONDO MONDO:0015984,MONDO:0016229,MONDO:0018722,MONDO:0019520 subclass MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) Orphanet Orphanet:69735 one_to_one @@ -43400,6 +43831,7 @@ MONDO:0007672 glomuvenous malformation OMIM OMIM:138000 one_to_one MONDO:0007672 glomuvenous malformation Orphanet Orphanet:83454 one_to_one MONDO:0007672 glomuvenous malformation SCTID SCTID:715644000 one_to_one MONDO:0007672 glomuvenous malformation UMLS UMLS:C1841984 one_to_one +MONDO:0007672 glomuvenous malformation http http://identifiers.org/hgnc/14373 disease_has_basis_in_dysfunction_of MONDO:0007673 Glucoglycinuria MESH MESH:C562670 one_to_one MONDO:0007673 Glucoglycinuria MONDO MONDO:0003847 subclass MONDO:0007673 Glucoglycinuria OMIM OMIM:138070 one_to_one @@ -43415,6 +43847,7 @@ MONDO:0007677 hyperglycinuria (disease) MESH MESH:C563009 one_to_one MONDO:0007677 hyperglycinuria (disease) MONDO MONDO:0003847 subclass MONDO:0007677 hyperglycinuria (disease) OMIM OMIM:138500 one_to_one MONDO:0007677 hyperglycinuria (disease) UMLS UMLS:C0543541 one_to_one +MONDO:0007677 hyperglycinuria (disease) http http://identifiers.org/hgnc/18762,http://identifiers.org/hgnc/27960,http://identifiers.org/hgnc/30927 disease_has_basis_in_dysfunction_of MONDO:0007678 glycoprotein, renal MONDO MONDO:0003847 subclass MONDO:0007678 glycoprotein, renal OMIM OMIM:138710 one_to_one MONDO:0007679 GMS syndrome GARD GARD:0002523 one_to_one @@ -43441,6 +43874,7 @@ MONDO:0007681 familial multinodular goiter MONDO MONDO:0000334,MONDO:0015074,MON MONDO:0007681 familial multinodular goiter OMIM OMIM:138800 one_to_one MONDO:0007681 familial multinodular goiter Orphanet Orphanet:276399 one_to_one MONDO:0007681 familial multinodular goiter SCTID SCTID:267369002 one_to_one +MONDO:0007681 familial multinodular goiter http http://identifiers.org/hgnc/17098 disease_has_basis_in_dysfunction_of MONDO:0007682 granddad syndrome MESH MESH:C564211 one_to_one MONDO:0007682 granddad syndrome MONDO MONDO:0003847 subclass MONDO:0007682 granddad syndrome OMIM OMIM:138920 one_to_one @@ -43472,6 +43906,7 @@ MONDO:0007686 gray platelet syndrome OMIM OMIM:139090 one_to_one MONDO:0007686 gray platelet syndrome Orphanet Orphanet:721 one_to_one MONDO:0007686 gray platelet syndrome SCTID SCTID:51720005 one_to_one MONDO:0007686 gray platelet syndrome UMLS UMLS:C0272302,UMLS:C2717750,UMLS:CN205641 inexact +MONDO:0007686 gray platelet syndrome http http://identifiers.org/hgnc/31928 disease_has_basis_in_dysfunction_of MONDO:0007687 graying of hair, precocious MESH MESH:C564209 one_to_one MONDO:0007687 graying of hair, precocious MONDO MONDO:0003847 subclass MONDO:0007687 graying of hair, precocious OMIM OMIM:139100 one_to_one @@ -43486,6 +43921,7 @@ MONDO:0007688 Myhre syndrome OMIM OMIM:139210 one_to_one MONDO:0007688 Myhre syndrome Orphanet Orphanet:2588 one_to_one MONDO:0007688 Myhre syndrome SCTID SCTID:699316006 one_to_one MONDO:0007688 Myhre syndrome UMLS UMLS:C0796081 one_to_one +MONDO:0007688 Myhre syndrome http http://identifiers.org/hgnc/6770 disease_has_basis_in_dysfunction_of MONDO:0007689 guanylate kinase 3 MONDO MONDO:0003847 subclass MONDO:0007689 guanylate kinase 3 OMIM OMIM:139290 one_to_one MONDO:0007690 aromatase excess syndrome DOID DOID:0090122 one_to_one @@ -43498,6 +43934,7 @@ MONDO:0007690 aromatase excess syndrome OMIM OMIM:139300 one_to_one MONDO:0007690 aromatase excess syndrome Orphanet Orphanet:178345 one_to_one MONDO:0007690 aromatase excess syndrome SCTID SCTID:709075008 one_to_one MONDO:0007690 aromatase excess syndrome UMLS UMLS:C1970109 one_to_one +MONDO:0007690 aromatase excess syndrome http http://identifiers.org/hgnc/2594 disease_has_basis_in_dysfunction_of MONDO:0007691 chronic inflammatory demyelinating polyneuropathy GARD GARD:0006102 one_to_one MONDO:0007691 chronic inflammatory demyelinating polyneuropathy ICD10 ICD10:G61.8 inexact MONDO:0007691 chronic inflammatory demyelinating polyneuropathy MONDO MONDO:0016170,MONDO:0020008 subclass @@ -43505,6 +43942,7 @@ MONDO:0007691 chronic inflammatory demyelinating polyneuropathy MedDRA MedDRA:10 MONDO:0007691 chronic inflammatory demyelinating polyneuropathy OMIM OMIM:139393 one_to_one MONDO:0007691 chronic inflammatory demyelinating polyneuropathy Orphanet Orphanet:2932 one_to_one MONDO:0007691 chronic inflammatory demyelinating polyneuropathy SCTID SCTID:716723000 one_to_one +MONDO:0007691 chronic inflammatory demyelinating polyneuropathy http http://identifiers.org/hgnc/9118 disease_has_basis_in_dysfunction_of MONDO:0007692 hairy ears MESH MESH:C562484 one_to_one MONDO:0007692 hairy ears MONDO MONDO:0003847 subclass MONDO:0007692 hairy ears OMIM OMIM:139500 one_to_one @@ -43546,6 +43984,7 @@ MONDO:0007698 hand-foot-genital syndrome OMIM OMIM:140000 one_to_one MONDO:0007698 hand-foot-genital syndrome Orphanet Orphanet:2438 one_to_one MONDO:0007698 hand-foot-genital syndrome SCTID SCTID:702425002 one_to_one MONDO:0007698 hand-foot-genital syndrome UMLS UMLS:C1841679 one_to_one +MONDO:0007698 hand-foot-genital syndrome http http://identifiers.org/hgnc/5102 disease_has_basis_in_dysfunction_of MONDO:0007699 Hashimoto thyroiditis COHD COHD:135215 one_to_one MONDO:0007699 Hashimoto thyroiditis DOID DOID:7188 one_to_one MONDO:0007699 Hashimoto thyroiditis EFO EFO:0003779 one_to_one @@ -43557,6 +43996,7 @@ MONDO:0007699 Hashimoto thyroiditis NCIT NCIT:C27191 one_to_one MONDO:0007699 Hashimoto thyroiditis OMIM OMIM:140300 one_to_one MONDO:0007699 Hashimoto thyroiditis UMLS UMLS:C0677607 one_to_one MONDO:0007699 Hashimoto thyroiditis Wikipedia Wikipedia:Hashimoto's_thyroiditis one_to_one +MONDO:0007699 Hashimoto thyroiditis http http://identifiers.org/hgnc/2505 disease_has_basis_in_dysfunction_of MONDO:0007700 hawkinsinuria GARD GARD:0005668 one_to_one MONDO:0007700 hawkinsinuria ICD10 ICD10:E70.2 inexact MONDO:0007700 hawkinsinuria MESH MESH:C535845 one_to_one @@ -43565,6 +44005,7 @@ MONDO:0007700 hawkinsinuria OMIM OMIM:140350 one_to_one MONDO:0007700 hawkinsinuria Orphanet Orphanet:2118 one_to_one MONDO:0007700 hawkinsinuria SCTID SCTID:414380008 one_to_one MONDO:0007700 hawkinsinuria UMLS UMLS:C2931042 one_to_one +MONDO:0007700 hawkinsinuria http http://identifiers.org/hgnc/5147 disease_has_basis_in_dysfunction_of MONDO:0007701 progressive familial heart block type II DOID DOID:0111075 one_to_one MONDO:0007701 progressive familial heart block type II GARD GARD:0004879 one_to_one MONDO:0007701 progressive familial heart block type II ICD9 ICD9:426.6 inexact @@ -43584,6 +44025,7 @@ MONDO:0007704 osteoarthritis susceptibility 2 MONDO MONDO:0002181,MONDO:0005178 MONDO:0007704 osteoarthritis susceptibility 2 NCIT NCIT:C34671 one_to_one MONDO:0007704 osteoarthritis susceptibility 2 OMIM OMIM:140600 one_to_one MONDO:0007704 osteoarthritis susceptibility 2 SCTID SCTID:239869009 one_to_one +MONDO:0007704 osteoarthritis susceptibility 2 http http://identifiers.org/hgnc/6909 disease_has_basis_in_dysfunction_of MONDO:0007705 Heinz body anemia GARD GARD:0010718 one_to_one MONDO:0007705 Heinz body anemia HP HP:0005511 one_to_one MONDO:0007705 Heinz body anemia ICD10 ICD10:D58.2 inexact @@ -43593,6 +44035,7 @@ MONDO:0007705 Heinz body anemia MedDRA MedDRA:10002058 one_to_one MONDO:0007705 Heinz body anemia OMIM OMIM:140700 one_to_one MONDO:0007705 Heinz body anemia Orphanet Orphanet:178330 one_to_one MONDO:0007705 Heinz body anemia UMLS UMLS:C0700299 one_to_one +MONDO:0007705 Heinz body anemia http http://identifiers.org/hgnc/4823,http://identifiers.org/hgnc/4824,http://identifiers.org/hgnc/4827 disease_has_basis_in_dysfunction_of MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome GARD GARD:0008524 one_to_one MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome ICD10 ICD10:D18.0 inexact MONDO:0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome MESH MESH:C538144 one_to_one @@ -43620,6 +44063,7 @@ MONDO:0007708 Kasabach-Merritt syndrome UMLS UMLS:C0221025 one_to_one MONDO:0007709 hematuria, benign familial MESH MESH:C562476 one_to_one MONDO:0007709 hematuria, benign familial MONDO MONDO:0003847 subclass MONDO:0007709 hematuria, benign familial OMIM OMIM:141200 one_to_one +MONDO:0007709 hematuria, benign familial http http://identifiers.org/hgnc/2204 disease_has_basis_in_dysfunction_of MONDO:0007710 facial hemiatrophy DOID DOID:1757 one_to_one MONDO:0007710 facial hemiatrophy GARD GARD:0007338 one_to_one MONDO:0007710 facial hemiatrophy ICD10 ICD10:G51.8 one_to_one @@ -43653,6 +44097,7 @@ MONDO:0007714 migraine, familial hemiplegic, 1 GARD GARD:0002638 one_to_one MONDO:0007714 migraine, familial hemiplegic, 1 MONDO MONDO:0005277,MONDO:0015954,MONDO:0016517,MONDO:0018925 subclass MONDO:0007714 migraine, familial hemiplegic, 1 NCIT NCIT:C117011 one_to_one MONDO:0007714 migraine, familial hemiplegic, 1 OMIM OMIM:141500 one_to_one +MONDO:0007714 migraine, familial hemiplegic, 1 http http://identifiers.org/hgnc/1388 disease_has_basis_in_dysfunction_of MONDO:0007715 hemolytic Poikilocytic anemia due to reduced ankyrin binding sites MESH MESH:C564197 one_to_one MONDO:0007715 hemolytic Poikilocytic anemia due to reduced ankyrin binding sites MONDO MONDO:0003847 subclass MONDO:0007715 hemolytic Poikilocytic anemia due to reduced ankyrin binding sites OMIM OMIM:141700 one_to_one @@ -43673,6 +44118,7 @@ MONDO:0007718 hepatic adenomas, familial MESH MESH:C564190 one_to_one MONDO:0007718 hepatic adenomas, familial MONDO MONDO:0018902 subclass MONDO:0007718 hepatic adenomas, familial OMIM OMIM:142330 one_to_one MONDO:0007718 hepatic adenomas, familial UMLS UMLS:C1840646 one_to_one +MONDO:0007718 hepatic adenomas, familial http http://identifiers.org/hgnc/11621 disease_has_basis_in_dysfunction_of MONDO:0007719 diaphragmatic hernia, congenital 1 MONDO MONDO:0005711,MONDO:0015510,MONDO:0015960,MONDO:0020127 subclass MONDO:0007719 diaphragmatic hernia, congenital 1 OMIM OMIM:142340 one_to_one MONDO:0007720 hernia, double inguinal MESH MESH:C563164 one_to_one @@ -43694,6 +44140,7 @@ MONDO:0007722 heterochromia iridis (disease) OMIM OMIM:142500 one_to_one MONDO:0007723 Hirschsprung disease, susceptibility to, 1 MONDO MONDO:0018309 subclass MONDO:0007723 Hirschsprung disease, susceptibility to, 1 OMIM OMIM:142623 one_to_one MONDO:0007723 Hirschsprung disease, susceptibility to, 1 UMLS UMLS:C2931876 one_to_one +MONDO:0007723 Hirschsprung disease, susceptibility to, 1 http http://identifiers.org/hgnc/9967 disease_has_basis_in_dysfunction_of 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 @@ -43714,6 +44161,7 @@ MONDO:0007726 hip dysplasia, Beukes type MONDO MONDO:0019692 subclass MONDO:0007726 hip dysplasia, Beukes type OMIM OMIM:142669 one_to_one MONDO:0007726 hip dysplasia, Beukes type Orphanet Orphanet:2114 one_to_one MONDO:0007726 hip dysplasia, Beukes type SCTID SCTID:721148005 one_to_one +MONDO:0007726 hip dysplasia, Beukes type http http://identifiers.org/hgnc/25640 disease_has_basis_in_dysfunction_of MONDO:0007727 autosomal dominant familial periodic fever DOID DOID:0090018 one_to_one MONDO:0007727 autosomal dominant familial periodic fever GARD GARD:0008457 one_to_one MONDO:0007727 autosomal dominant familial periodic fever ICD10 ICD10:E85.0 inexact @@ -43724,9 +44172,11 @@ MONDO:0007727 autosomal dominant familial periodic fever NCIT NCIT:C119051 one_t MONDO:0007727 autosomal dominant familial periodic fever OMIM OMIM:142680 one_to_one MONDO:0007727 autosomal dominant familial periodic fever Orphanet Orphanet:32960 one_to_one MONDO:0007727 autosomal dominant familial periodic fever SCTID SCTID:403833009 one_to_one +MONDO:0007727 autosomal dominant familial periodic fever http http://identifiers.org/hgnc/11916 disease_has_basis_in_dysfunction_of MONDO:0007728 acne inversa, familial, 1 MONDO MONDO:0024516 subclass MONDO:0007728 acne inversa, familial, 1 OMIM OMIM:142690 one_to_one MONDO:0007728 acne inversa, familial, 1 UMLS UMLS:CN028850 one_to_one +MONDO:0007728 acne inversa, familial, 1 http http://identifiers.org/hgnc/17091 disease_has_basis_in_dysfunction_of MONDO:0007729 DDH1 MONDO MONDO:0000158,MONDO:0003847 subclass MONDO:0007729 DDH1 OMIM OMIM:142700 one_to_one MONDO:0007730 histiocytic dermatoarthritis MESH MESH:C564183 one_to_one @@ -43745,18 +44195,20 @@ MONDO:0007732 Holt-Oram syndrome OMIM OMIM:142900 one_to_one MONDO:0007732 Holt-Oram syndrome Orphanet Orphanet:392 one_to_one MONDO:0007732 Holt-Oram syndrome SCTID SCTID:19092004 one_to_one MONDO:0007732 Holt-Oram syndrome UMLS UMLS:C0265264 one_to_one +MONDO:0007732 Holt-Oram syndrome http http://identifiers.org/hgnc/11604 disease_has_basis_in_dysfunction_of MONDO:0007733 holoprosencephaly 3 DOID DOID:0110875 one_to_one MONDO:0007733 holoprosencephaly 3 MESH MESH:C564181 one_to_one MONDO:0007733 holoprosencephaly 3 MONDO MONDO:0016296 subclass -MONDO:0007733 holoprosencephaly 3 NCBIGene NCBIGene:6469 disease_has_basis_in_dysfunction_of MONDO:0007733 holoprosencephaly 3 OMIM OMIM:142945 one_to_one MONDO:0007733 holoprosencephaly 3 UMLS UMLS:C1840529 one_to_one +MONDO:0007733 holoprosencephaly 3 http http://identifiers.org/hgnc/10848 disease_has_basis_in_dysfunction_of MONDO:0007734 holoprosencephaly 4 DOID DOID:0110880 one_to_one MONDO:0007734 holoprosencephaly 4 MESH MESH:C564180 one_to_one MONDO:0007734 holoprosencephaly 4 MONDO MONDO:0016296 subclass MONDO:0007734 holoprosencephaly 4 NCIT NCIT:C75475 one_to_one MONDO:0007734 holoprosencephaly 4 OMIM OMIM:142946 one_to_one MONDO:0007734 holoprosencephaly 4 UMLS UMLS:C1840528 one_to_one +MONDO:0007734 holoprosencephaly 4 http http://identifiers.org/hgnc/11776 disease_has_basis_in_dysfunction_of MONDO:0007735 congenital Horner syndrome (disease) HP HP:0006837 one_to_one MONDO:0007735 congenital Horner syndrome (disease) ICD10 ICD10:G90.2 inexact MONDO:0007735 congenital Horner syndrome (disease) MESH MESH:C564178 one_to_one @@ -43783,6 +44235,7 @@ MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations MO MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations OMIM OMIM:143095 one_to_one MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations Orphanet Orphanet:263463 one_to_one MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations SCTID SCTID:702400006 one_to_one +MONDO:0007738 spondyloepiphyseal dysplasia with congenital joint dislocations http http://identifiers.org/hgnc/1971 disease_has_basis_in_dysfunction_of MONDO:0007739 Huntington disease COHD COHD:374341 one_to_one MONDO:0007739 Huntington disease DOID DOID:12858 one_to_one MONDO:0007739 Huntington disease GARD GARD:0006677 one_to_one @@ -43797,6 +44250,7 @@ MONDO:0007739 Huntington disease OMIM OMIM:143100 one_to_one MONDO:0007739 Huntington disease Orphanet Orphanet:399 one_to_one MONDO:0007739 Huntington disease SCTID SCTID:58756001 one_to_one MONDO:0007739 Huntington disease UMLS UMLS:C0020179 one_to_one +MONDO:0007739 Huntington disease http http://identifiers.org/hgnc/4851 disease_has_basis_in_dysfunction_of MONDO:0007740 Wagner disease GARD GARD:0007871 one_to_one MONDO:0007740 Wagner disease ICD10 ICD10:H35.5 inexact MONDO:0007740 Wagner disease MESH MESH:C536075 one_to_one @@ -43806,6 +44260,7 @@ MONDO:0007740 Wagner disease OMIM OMIM:143200 one_to_one MONDO:0007740 Wagner disease Orphanet Orphanet:898 one_to_one MONDO:0007740 Wagner disease SCTID SCTID:232064001 one_to_one MONDO:0007740 Wagner disease UMLS UMLS:C1840452 one_to_one +MONDO:0007740 Wagner disease http http://identifiers.org/hgnc/2464 disease_has_basis_in_dysfunction_of MONDO:0007741 congenital hydronephrosis COHD COHD:4037874 one_to_one MONDO:0007741 congenital hydronephrosis ICD10 ICD10:Q62.0 one_to_one MONDO:0007741 congenital hydronephrosis ICD9 ICD9:753.29 one_to_one @@ -43817,15 +44272,18 @@ MONDO:0007741 congenital hydronephrosis SCTID SCTID:16297002 one_to_one MONDO:0007741 congenital hydronephrosis UMLS UMLS:C0266316 one_to_one MONDO:0007742 5-hydroxytryptamine oxygenase regulator MONDO MONDO:0003847 subclass MONDO:0007742 5-hydroxytryptamine oxygenase regulator OMIM OMIM:143460 one_to_one +MONDO:0007742 5-hydroxytryptamine oxygenase regulator http http://identifiers.org/hgnc/5285 disease_has_basis_in_dysfunction_of MONDO:0007743 attention deficit-hyperactivity disorder MONDO MONDO:0005302 subclass MONDO:0007743 attention deficit-hyperactivity disorder NCIT NCIT:C97160 one_to_one MONDO:0007743 attention deficit-hyperactivity disorder OMIM OMIM:143465 one_to_one +MONDO:0007743 attention deficit-hyperactivity disorder http http://identifiers.org/hgnc/3025,http://identifiers.org/hgnc/3026 disease_has_basis_in_dysfunction_of MONDO:0007744 cholesterol-ester transfer protein deficiency ICD10 ICD10:E78.4 inexact MONDO:0007744 cholesterol-ester transfer protein deficiency MONDO MONDO:0015903 subclass MONDO:0007744 cholesterol-ester transfer protein deficiency OMIM OMIM:143470 one_to_one MONDO:0007744 cholesterol-ester transfer protein deficiency Orphanet Orphanet:79506 one_to_one MONDO:0007744 cholesterol-ester transfer protein deficiency SCTID SCTID:15771000119109 one_to_one MONDO:0007744 cholesterol-ester transfer protein deficiency UMLS UMLS:C3875011,UMLS:CN205999 inexact +MONDO:0007744 cholesterol-ester transfer protein deficiency http http://identifiers.org/hgnc/1869 disease_has_basis_in_dysfunction_of MONDO:0007745 Gilbert syndrome COHD COHD:4099740 one_to_one MONDO:0007745 Gilbert syndrome DOID DOID:2739 one_to_one MONDO:0007745 Gilbert syndrome EFO EFO:0005556 one_to_one @@ -43836,6 +44294,7 @@ MONDO:0007745 Gilbert syndrome MONDO MONDO:0002254,MONDO:0002408 subclass MONDO:0007745 Gilbert syndrome NCIT NCIT:C84729 one_to_one MONDO:0007745 Gilbert syndrome OMIM OMIM:143500 one_to_one MONDO:0007745 Gilbert syndrome SCTID SCTID:27503000 one_to_one +MONDO:0007745 Gilbert syndrome http http://identifiers.org/hgnc/12530 disease_has_basis_in_dysfunction_of MONDO:0007746 orthostatic hypotensive disorder, Streeten type MESH MESH:C564174 one_to_one MONDO:0007746 orthostatic hypotensive disorder, Streeten type MONDO MONDO:0003847 subclass MONDO:0007746 orthostatic hypotensive disorder, Streeten type OMIM OMIM:143850 one_to_one @@ -43844,11 +44303,13 @@ MONDO:0007747 Hyperchlorhidrosis, isolated ICD9 ICD9:276.9 one_to_one MONDO:0007747 Hyperchlorhidrosis, isolated MONDO MONDO:0003847 subclass MONDO:0007747 Hyperchlorhidrosis, isolated OMIM OMIM:143860 one_to_one MONDO:0007747 Hyperchlorhidrosis, isolated SCTID SCTID:709413001 one_to_one +MONDO:0007747 Hyperchlorhidrosis, isolated http http://identifiers.org/hgnc/1371 disease_has_basis_in_dysfunction_of MONDO:0007748 hypercalciuria, absorptive, 2 ICD9 ICD9:V18.19 one_to_one MONDO:0007748 hypercalciuria, absorptive, 2 MESH MESH:C562790 one_to_one MONDO:0007748 hypercalciuria, absorptive, 2 MONDO MONDO:0016352 subclass MONDO:0007748 hypercalciuria, absorptive, 2 OMIM OMIM:143870 one_to_one MONDO:0007748 hypercalciuria, absorptive, 2 SCTID SCTID:237886009 one_to_one +MONDO:0007748 hypercalciuria, absorptive, 2 http http://identifiers.org/hgnc/21285 disease_has_basis_in_dysfunction_of MONDO:0007749 autosomal recessive infantile hypercalcemia HP HP:0000007 has_modifier MONDO:0007749 autosomal recessive infantile hypercalcemia ICD10 ICD10:E83.5 inexact MONDO:0007749 autosomal recessive infantile hypercalcemia MONDO MONDO:0000212,MONDO:0006025,MONDO:0015970,MONDO:0019052,MONDO:0019061,MONDO:0019743 subclass @@ -43857,12 +44318,15 @@ MONDO:0007749 autosomal recessive infantile hypercalcemia OMIM OMIM:143880 one_t MONDO:0007749 autosomal recessive infantile hypercalcemia Orphanet Orphanet:300547 one_to_one MONDO:0007749 autosomal recessive infantile hypercalcemia SCTID SCTID:34225008 one_to_one MONDO:0007749 autosomal recessive infantile hypercalcemia UMLS UMLS:C0268080,UMLS:C4329374,UMLS:CN203398 inexact +MONDO:0007749 autosomal recessive infantile hypercalcemia http http://identifiers.org/hgnc/2602 disease_has_basis_in_dysfunction_of MONDO:0007750 hypercholesterolemia, familial MONDO MONDO:0005439 subclass MONDO:0007750 hypercholesterolemia, familial OMIM OMIM:143890 one_to_one MONDO:0007750 hypercholesterolemia, familial SCTID SCTID:398036000 one_to_one +MONDO:0007750 hypercholesterolemia, familial http http://identifiers.org/hgnc/16973,http://identifiers.org/hgnc/29,http://identifiers.org/hgnc/3402,http://identifiers.org/hgnc/4263,http://identifiers.org/hgnc/601,http://identifiers.org/hgnc/6169,http://identifiers.org/hgnc/6547 disease_has_basis_in_dysfunction_of MONDO:0007751 hypercholesterolemia, autosomal dominant, type b MONDO MONDO:0005439 subclass MONDO:0007751 hypercholesterolemia, autosomal dominant, type b OMIM OMIM:144010 one_to_one MONDO:0007751 hypercholesterolemia, autosomal dominant, type b SCTID SCTID:238081000 one_to_one +MONDO:0007751 hypercholesterolemia, autosomal dominant, type b http http://identifiers.org/hgnc/603 disease_has_basis_in_dysfunction_of MONDO:0007752 hyperheparinemia ICD9 ICD9:286.5 one_to_one MONDO:0007752 hyperheparinemia MESH MESH:C562723 one_to_one MONDO:0007752 hyperheparinemia MONDO MONDO:0003847 subclass @@ -43909,8 +44373,10 @@ MONDO:0007758 epidermolytic palmoplantar keratoderma OMIM OMIM:144200 one_to_one MONDO:0007758 epidermolytic palmoplantar keratoderma Orphanet Orphanet:2199 one_to_one MONDO:0007758 epidermolytic palmoplantar keratoderma SCTID SCTID:399955009 one_to_one MONDO:0007758 epidermolytic palmoplantar keratoderma UMLS UMLS:C1721006 one_to_one +MONDO:0007758 epidermolytic palmoplantar keratoderma http http://identifiers.org/hgnc/6412,http://identifiers.org/hgnc/6447 disease_has_basis_in_dysfunction_of MONDO:0007759 hyperlipidemia, familial combined, LPL related MONDO MONDO:0001807 subclass MONDO:0007759 hyperlipidemia, familial combined, LPL related OMIM OMIM:144250 one_to_one +MONDO:0007759 hyperlipidemia, familial combined, LPL related http http://identifiers.org/hgnc/6677 disease_has_basis_in_dysfunction_of MONDO:0007760 hyperlipoproteinemia, type II, and deafness MESH MESH:C564170 one_to_one MONDO:0007760 hyperlipoproteinemia, type II, and deafness MONDO MONDO:0003847 subclass MONDO:0007760 hyperlipoproteinemia, type II, and deafness OMIM OMIM:144300 one_to_one @@ -43933,16 +44399,19 @@ MONDO:0007762 hyperlipoproteinemia type V MedDRA MedDRA:10060755 one_to_one MONDO:0007762 hyperlipoproteinemia type V OMIM OMIM:144650 one_to_one MONDO:0007762 hyperlipoproteinemia type V Orphanet Orphanet:70470 one_to_one MONDO:0007762 hyperlipoproteinemia type V SCTID SCTID:34349009 one_to_one +MONDO:0007762 hyperlipoproteinemia type V http http://identifiers.org/hgnc/17288 disease_has_basis_in_dysfunction_of MONDO:0007763 nonpapillary renal cell carcinoma DOID DOID:0050387 one_to_one MONDO:0007763 nonpapillary renal cell carcinoma ICD10 ICD10:C64 inexact MONDO:0007763 nonpapillary renal cell carcinoma MONDO MONDO:0005086 subclass MONDO:0007763 nonpapillary renal cell carcinoma OMIM OMIM:144700 one_to_one MONDO:0007763 nonpapillary renal cell carcinoma Orphanet Orphanet:319276 one_to_one +MONDO:0007763 nonpapillary renal cell carcinoma http http://identifiers.org/hgnc/11621,http://identifiers.org/hgnc/11630,http://identifiers.org/hgnc/12687,http://identifiers.org/hgnc/16628,http://identifiers.org/hgnc/17023,http://identifiers.org/hgnc/27310,http://identifiers.org/hgnc/8125 disease_has_basis_in_dysfunction_of MONDO:0007764 autosomal dominant osteosclerosis, Worth type GARD GARD:0000390 one_to_one MONDO:0007764 autosomal dominant osteosclerosis, Worth type ICD10 ICD10:Q78.2 inexact MONDO:0007764 autosomal dominant osteosclerosis, Worth type MONDO MONDO:0019703 subclass MONDO:0007764 autosomal dominant osteosclerosis, Worth type OMIM OMIM:144750 one_to_one MONDO:0007764 autosomal dominant osteosclerosis, Worth type Orphanet Orphanet:2790 one_to_one +MONDO:0007764 autosomal dominant osteosclerosis, Worth type http http://identifiers.org/hgnc/6697 disease_has_basis_in_dysfunction_of MONDO:0007765 hyperostosis cranialis interna (disease) HP HP:0005890 one_to_one MONDO:0007765 hyperostosis cranialis interna (disease) ICD10 ICD10:M85.2 inexact MONDO:0007765 hyperostosis cranialis interna (disease) MESH MESH:C564168 one_to_one @@ -43986,6 +44455,7 @@ MONDO:0007770 hyperpigmentation of Fuldauer and Kuijpers UMLS UMLS:C1840393 one_ MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive MONDO MONDO:0013648 subclass MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive OMIM OMIM:145250 one_to_one MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive UMLS UMLS:C1835039 one_to_one +MONDO:0007771 hyperpigmentation with or without hypopigmentation, familial progressive http http://identifiers.org/hgnc/6343 disease_has_basis_in_dysfunction_of MONDO:0007772 pseudohypoaldosteronism type 2A ICD10 ICD10:I15.1 inexact MONDO:0007772 pseudohypoaldosteronism type 2A MONDO MONDO:0019162 subclass MONDO:0007772 pseudohypoaldosteronism type 2A OMIM OMIM:145260 one_to_one @@ -44027,6 +44497,7 @@ MONDO:0007779 autosomal dominant Opitz G/BBB syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007779 autosomal dominant Opitz G/BBB syndrome MONDO MONDO:0000426,MONDO:0017138 subclass MONDO:0007779 autosomal dominant Opitz G/BBB syndrome OMIM OMIM:145410 one_to_one MONDO:0007779 autosomal dominant Opitz G/BBB syndrome Orphanet Orphanet:306588 one_to_one +MONDO:0007779 autosomal dominant Opitz G/BBB syndrome http http://identifiers.org/hgnc/29022 disease_has_basis_in_dysfunction_of MONDO:0007780 hypertelorism, Teebi type GARD GARD:0000957 one_to_one MONDO:0007780 hypertelorism, Teebi type ICD10 ICD10:Q87.0 inexact MONDO:0007780 hypertelorism, Teebi type MONDO MONDO:0016643,MONDO:0043008 subclass @@ -44036,26 +44507,31 @@ MONDO:0007780 hypertelorism, Teebi type UMLS UMLS:C0796179,UMLS:CN199596 inexact MONDO:0007781 essential hypertension, genetic MONDO MONDO:0021150 has_modifier MONDO:0007781 essential hypertension, genetic MONDO MONDO:0001134,MONDO:0015512 subclass MONDO:0007781 essential hypertension, genetic OMIM OMIM:145500 one_to_one +MONDO:0007781 essential hypertension, genetic http http://identifiers.org/hgnc/10001,http://identifiers.org/hgnc/10718,http://identifiers.org/hgnc/243,http://identifiers.org/hgnc/2638,http://identifiers.org/hgnc/3146,http://identifiers.org/hgnc/333,http://identifiers.org/hgnc/336,http://identifiers.org/hgnc/4400,http://identifiers.org/hgnc/7873,http://identifiers.org/hgnc/7876,http://identifiers.org/hgnc/804,http://identifiers.org/hgnc/9603 disease_has_basis_in_dysfunction_of MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea MESH MESH:C564156 one_to_one MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea MONDO MONDO:0003847 subclass MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea OMIM OMIM:145590 one_to_one MONDO:0007782 hyperthermia, cutaneous, with headaches and nausea UMLS UMLS:C1840373 one_to_one +MONDO:0007783 malignant hyperthermia, susceptibility to, 1 EFO EFO:0009071 one_to_one MONDO:0007783 malignant hyperthermia, susceptibility to, 1 GARD GARD:0003363 one_to_one MONDO:0007783 malignant hyperthermia, susceptibility to, 1 MESH MESH:C535694 one_to_one MONDO:0007783 malignant hyperthermia, susceptibility to, 1 MONDO MONDO:0018493 subclass MONDO:0007783 malignant hyperthermia, susceptibility to, 1 OMIM OMIM:145600 one_to_one MONDO:0007783 malignant hyperthermia, susceptibility to, 1 UMLS UMLS:CN031421 one_to_one +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 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 +MONDO:0007784 selective pituitary resistance to thyroid hormone http http://identifiers.org/hgnc/11799 disease_has_basis_in_dysfunction_of MONDO:0007785 hyperthyroxinemia, dystransthyretinemic DOID DOID:0080219 one_to_one MONDO:0007785 hyperthyroxinemia, dystransthyretinemic MESH MESH:C567719 one_to_one MONDO:0007785 hyperthyroxinemia, dystransthyretinemic MONDO MONDO:0003847,MONDO:0005333 subclass MONDO:0007785 hyperthyroxinemia, dystransthyretinemic OMIM OMIM:145680 one_to_one MONDO:0007785 hyperthyroxinemia, dystransthyretinemic UMLS UMLS:C2750824 one_to_one +MONDO:0007785 hyperthyroxinemia, dystransthyretinemic http http://identifiers.org/hgnc/12405 disease_has_basis_in_dysfunction_of MONDO:0007787 Ambras type hypertrichosis universalis congenita DOID DOID:0111060 one_to_one MONDO:0007787 Ambras type hypertrichosis universalis congenita GARD GARD:0008206 one_to_one MONDO:0007787 Ambras type hypertrichosis universalis congenita ICD10 ICD10:Q84.2 inexact @@ -44067,6 +44543,7 @@ MONDO:0007788 hypertriglyceridemia, familial MONDO MONDO:0021152 has_modifier MONDO:0007788 hypertriglyceridemia, familial MONDO MONDO:0005347,MONDO:0015902 subclass MONDO:0007788 hypertriglyceridemia, familial OMIM OMIM:145750 one_to_one MONDO:0007788 hypertriglyceridemia, familial SCTID SCTID:34528009 one_to_one +MONDO:0007788 hypertriglyceridemia, familial http http://identifiers.org/hgnc/17288,http://identifiers.org/hgnc/18821 disease_has_basis_in_dysfunction_of MONDO:0007789 hypertrophia musculorum vera MESH MESH:C564152 one_to_one MONDO:0007789 hypertrophia musculorum vera MONDO MONDO:0003847 subclass MONDO:0007789 hypertrophia musculorum vera OMIM OMIM:145800 one_to_one @@ -44074,21 +44551,22 @@ MONDO:0007789 hypertrophia musculorum vera UMLS UMLS:C1840361 one_to_one MONDO:0007790 Charcot-Marie-tooth disease type 3 DOID DOID:0050540 one_to_one MONDO:0007790 Charcot-Marie-tooth disease type 3 GARD GARD:0009204 one_to_one MONDO:0007790 Charcot-Marie-tooth disease type 3 ICD10 ICD10:G60.0 inexact -MONDO:0007790 Charcot-Marie-tooth disease type 3 MONDO MONDO:0015359,MONDO:0015361 subclass +MONDO:0007790 Charcot-Marie-tooth disease type 3 MONDO MONDO:0011909,MONDO:0015359,MONDO:0015361 subclass MONDO:0007790 Charcot-Marie-tooth disease type 3 NCIT NCIT:C133087 one_to_one MONDO:0007790 Charcot-Marie-tooth disease type 3 OMIM OMIM:145900 one_to_one MONDO:0007790 Charcot-Marie-tooth disease type 3 Orphanet Orphanet:64748 one_to_one MONDO:0007790 Charcot-Marie-tooth disease type 3 SCTID SCTID:111499002 one_to_one MONDO:0007790 Charcot-Marie-tooth disease type 3 UMLS UMLS:C0011195 one_to_one +MONDO:0007790 Charcot-Marie-tooth disease type 3 http http://identifiers.org/hgnc/13797,http://identifiers.org/hgnc/3239,http://identifiers.org/hgnc/9118 disease_has_basis_in_dysfunction_of MONDO:0007791 familial hypocalciuric hypercalcemia 1 DOID DOID:0060700 one_to_one MONDO:0007791 familial hypocalciuric hypercalcemia 1 GARD GARD:0002796 one_to_one MONDO:0007791 familial hypocalciuric hypercalcemia 1 ICD10 ICD10:E83.5 inexact MONDO:0007791 familial hypocalciuric hypercalcemia 1 MONDO MONDO:0018458 subclass MONDO:0007791 familial hypocalciuric hypercalcemia 1 MedDRA MedDRA:10068704 one_to_one -MONDO:0007791 familial hypocalciuric hypercalcemia 1 NCBIGene NCBIGene:846 disease_has_basis_in_dysfunction_of MONDO:0007791 familial hypocalciuric hypercalcemia 1 OMIM OMIM:145980 one_to_one MONDO:0007791 familial hypocalciuric hypercalcemia 1 Orphanet Orphanet:93372 one_to_one MONDO:0007791 familial hypocalciuric hypercalcemia 1 SCTID SCTID:704166007 one_to_one +MONDO:0007791 familial hypocalciuric hypercalcemia 1 http http://identifiers.org/hgnc/1514 disease_has_basis_in_dysfunction_of MONDO:0007792 familial hypocalciuric hypercalcemia 2 DOID DOID:0060701 one_to_one MONDO:0007792 familial hypocalciuric hypercalcemia 2 GARD GARD:0009758 one_to_one MONDO:0007792 familial hypocalciuric hypercalcemia 2 ICD10 ICD10:E83.5 inexact @@ -44109,13 +44587,14 @@ MONDO:0007793 hypochondroplasia OMIM OMIM:146000 one_to_one MONDO:0007793 hypochondroplasia Orphanet Orphanet:429 one_to_one MONDO:0007793 hypochondroplasia SCTID SCTID:205468002 one_to_one MONDO:0007793 hypochondroplasia UMLS UMLS:C0410529 one_to_one +MONDO:0007793 hypochondroplasia http http://identifiers.org/hgnc/3690 disease_has_basis_in_dysfunction_of MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia DOID DOID:0090078 one_to_one MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia ICD10 ICD10:E23.0 inexact MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia ICD9 ICD9:253.4 inexact MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia MONDO MONDO:0013926,MONDO:0014102,MONDO:0014103,MONDO:0014105,MONDO:0014106,MONDO:0014107,MONDO:0014461,MONDO:0015890,MONDO:0018555 subclass -MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia NCBIGene NCBIGene:10011,NCBIGene:1848,NCBIGene:23767,NCBIGene:2796,NCBIGene:2798,NCBIGene:285025,NCBIGene:389549,NCBIGene:54756,NCBIGene:55703,NCBIGene:55717,NCBIGene:558,NCBIGene:81848,NCBIGene:8822,NCBIGene:9723 disease_has_basis_in_dysfunction_of MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia OMIM OMIM:146110 one_to_one MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia SCTID SCTID:123953004 one_to_one +MONDO:0007794 hypogonadotropic hypogonadism 7 with or without anosmia http http://identifiers.org/hgnc/10727,http://identifiers.org/hgnc/11281,http://identifiers.org/hgnc/13831,http://identifiers.org/hgnc/15533,http://identifiers.org/hgnc/17616,http://identifiers.org/hgnc/22788,http://identifiers.org/hgnc/26821,http://identifiers.org/hgnc/30348,http://identifiers.org/hgnc/3072,http://identifiers.org/hgnc/3673,http://identifiers.org/hgnc/3762,http://identifiers.org/hgnc/4419,http://identifiers.org/hgnc/4421,http://identifiers.org/hgnc/905 disease_has_basis_in_dysfunction_of MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome GARD GARD:0002908 one_to_one MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007795 mullerian duct anomalies-limb anomalies syndrome MESH MESH:C537155 one_to_one @@ -44127,6 +44606,7 @@ MONDO:0007796 hypoparathyroidism, familial isolated; FIH GARD GARD:0002910 one_t MONDO:0007796 hypoparathyroidism, familial isolated; FIH MONDO MONDO:0016390 subclass MONDO:0007796 hypoparathyroidism, familial isolated; FIH OMIM OMIM:146200 one_to_one MONDO:0007796 hypoparathyroidism, familial isolated; FIH SCTID SCTID:237657009 one_to_one +MONDO:0007796 hypoparathyroidism, familial isolated; FIH http http://identifiers.org/hgnc/4198,http://identifiers.org/hgnc/9606 disease_has_basis_in_dysfunction_of MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome DOID DOID:0060878 one_to_one MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome GARD GARD:0002911 one_to_one MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome ICD10 ICD10:Q87.8 inexact @@ -44136,6 +44616,7 @@ MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome NCIT NCIT:C1309 MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome OMIM OMIM:146255 one_to_one MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome Orphanet Orphanet:2237 one_to_one MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome UMLS UMLS:C1840333 one_to_one +MONDO:0007797 hypoparathyroidism-deafness-renal disease syndrome http http://identifiers.org/hgnc/4172 disease_has_basis_in_dysfunction_of MONDO:0007798 adult hypophosphatasia DOID DOID:0110913 one_to_one MONDO:0007798 adult hypophosphatasia HP HP:0003581 has_modifier MONDO:0007798 adult hypophosphatasia ICD10 ICD10:E83.3 inexact @@ -44144,6 +44625,7 @@ MONDO:0007798 adult hypophosphatasia OMIM OMIM:146300 one_to_one MONDO:0007798 adult hypophosphatasia Orphanet Orphanet:247676 one_to_one MONDO:0007798 adult hypophosphatasia SCTID SCTID:20756002 one_to_one MONDO:0007798 adult hypophosphatasia UMLS UMLS:C0268413 one_to_one +MONDO:0007798 adult hypophosphatasia http http://identifiers.org/hgnc/438 disease_has_basis_in_dysfunction_of MONDO:0007799 hypophosphatemic bone disease MESH MESH:C564145 one_to_one MONDO:0007799 hypophosphatemic bone disease MONDO MONDO:0003847 subclass MONDO:0007799 hypophosphatemic bone disease OMIM OMIM:146350 one_to_one @@ -44174,6 +44656,7 @@ MONDO:0007803 multiple system atrophy NCIT NCIT:C84909 one_to_one MONDO:0007803 multiple system atrophy OMIM OMIM:146500 one_to_one MONDO:0007803 multiple system atrophy Orphanet Orphanet:102 one_to_one MONDO:0007803 multiple system atrophy UMLS UMLS:C0037019,UMLS:C0393571 inexact +MONDO:0007803 multiple system atrophy http http://identifiers.org/hgnc/25223 disease_has_basis_in_dysfunction_of MONDO:0007804 Pallister-hall syndrome DOID DOID:9248 one_to_one MONDO:0007804 Pallister-hall syndrome GARD GARD:0007305 one_to_one MONDO:0007804 Pallister-hall syndrome ICD10 ICD10:D33.0 inexact @@ -44185,17 +44668,18 @@ MONDO:0007804 Pallister-hall syndrome OMIM OMIM:146510 one_to_one MONDO:0007804 Pallister-hall syndrome Orphanet Orphanet:672 one_to_one MONDO:0007804 Pallister-hall syndrome SCTID SCTID:56677004 one_to_one MONDO:0007804 Pallister-hall syndrome UMLS UMLS:C0265220 one_to_one +MONDO:0007804 Pallister-hall syndrome http http://identifiers.org/hgnc/4319 disease_has_basis_in_dysfunction_of MONDO:0007805 hypotrichosis 2 DOID DOID:0110699 one_to_one MONDO:0007805 hypotrichosis 2 MESH MESH:C564143 one_to_one MONDO:0007805 hypotrichosis 2 MONDO MONDO:0003037,MONDO:0019575 subclass -MONDO:0007805 hypotrichosis 2 NCBIGene NCBIGene:1041 disease_has_basis_in_dysfunction_of MONDO:0007805 hypotrichosis 2 OMIM OMIM:146520 one_to_one +MONDO:0007805 hypotrichosis 2 http http://identifiers.org/hgnc/1802 disease_has_basis_in_dysfunction_of MONDO:0007806 hypotrichosis 4 DOID DOID:0110701 one_to_one MONDO:0007806 hypotrichosis 4 MESH MESH:C567718 one_to_one MONDO:0007806 hypotrichosis 4 MONDO MONDO:0003037,MONDO:0018631 subclass -MONDO:0007806 hypotrichosis 4 NCBIGene NCBIGene:55806 disease_has_basis_in_dysfunction_of MONDO:0007806 hypotrichosis 4 OMIM OMIM:146550 one_to_one MONDO:0007806 hypotrichosis 4 UMLS UMLS:C2750815 one_to_one +MONDO:0007806 hypotrichosis 4 http http://identifiers.org/hgnc/5172 disease_has_basis_in_dysfunction_of MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor MONDO MONDO:0003847 subclass MONDO:0007807 hypoxanthine guanine phosphoribosyltransferase suppressor OMIM OMIM:146580 one_to_one MONDO:0007808 ichthyosis hystrix of Curth-Macklin GARD GARD:0002954 one_to_one @@ -44207,6 +44691,7 @@ MONDO:0007808 ichthyosis hystrix of Curth-Macklin OMIM OMIM:146590 one_to_one MONDO:0007808 ichthyosis hystrix of Curth-Macklin Orphanet Orphanet:79503 one_to_one MONDO:0007808 ichthyosis hystrix of Curth-Macklin SCTID SCTID:254170001 one_to_one MONDO:0007808 ichthyosis hystrix of Curth-Macklin UMLS UMLS:C1840296 one_to_one +MONDO:0007808 ichthyosis hystrix of Curth-Macklin http http://identifiers.org/hgnc/6412 disease_has_basis_in_dysfunction_of MONDO:0007809 ichthyosis hystrix gravior GARD GARD:0009497 one_to_one MONDO:0007809 ichthyosis hystrix gravior ICD10 ICD10:Q80.0 inexact MONDO:0007809 ichthyosis hystrix gravior ICD9 ICD9:757.39 inexact @@ -44224,6 +44709,7 @@ MONDO:0007810 autosomal dominant ichthyosis vulgaris MONDO MONDO:0000426,MONDO:0 MONDO:0007810 autosomal dominant ichthyosis vulgaris OMIM OMIM:146700 one_to_one MONDO:0007810 autosomal dominant ichthyosis vulgaris SCTID SCTID:254157005 one_to_one MONDO:0007810 autosomal dominant ichthyosis vulgaris UMLS UMLS:C0079584 one_to_one +MONDO:0007810 autosomal dominant ichthyosis vulgaris http http://identifiers.org/hgnc/3748 disease_has_basis_in_dysfunction_of MONDO:0007811 ichthyosis-cheek-eyebrow syndrome GARD GARD:0002947 one_to_one MONDO:0007811 ichthyosis-cheek-eyebrow syndrome MESH MESH:C536084 one_to_one MONDO:0007811 ichthyosis-cheek-eyebrow syndrome MONDO MONDO:0017274 subclass @@ -44245,6 +44731,7 @@ MONDO:0007813 ichthyosis bullosa of Siemens OMIM OMIM:146800 one_to_one MONDO:0007813 ichthyosis bullosa of Siemens Orphanet Orphanet:455 one_to_one MONDO:0007813 ichthyosis bullosa of Siemens SCTID SCTID:254169002 one_to_one MONDO:0007813 ichthyosis bullosa of Siemens UMLS UMLS:C0432306 one_to_one +MONDO:0007813 ichthyosis bullosa of Siemens http http://identifiers.org/hgnc/6439 disease_has_basis_in_dysfunction_of MONDO:0007814 immune deficiency, familial variable GARD GARD:0002984 one_to_one MONDO:0007814 immune deficiency, familial variable MESH MESH:C564136 one_to_one MONDO:0007814 immune deficiency, familial variable MONDO MONDO:0015517 subclass @@ -44261,6 +44748,7 @@ MONDO:0007817 IgE responsiveness, atopic MONDO MONDO:0004980,MONDO:0024255 subcl MONDO:0007817 IgE responsiveness, atopic NCIT NCIT:C3116 one_to_one MONDO:0007817 IgE responsiveness, atopic OMIM OMIM:147050 one_to_one MONDO:0007817 IgE responsiveness, atopic UMLS UMLS:C1840253 one_to_one +MONDO:0007817 IgE responsiveness, atopic http http://identifiers.org/hgnc/10721,http://identifiers.org/hgnc/15464,http://identifiers.org/hgnc/17024,http://identifiers.org/hgnc/17866,http://identifiers.org/hgnc/6006,http://identifiers.org/hgnc/6015,http://identifiers.org/hgnc/7316,http://identifiers.org/hgnc/9040 disease_has_basis_in_dysfunction_of MONDO:0007818 autosomal dominant hyper-IgE syndrome DOID DOID:3261 one_to_one MONDO:0007818 autosomal dominant hyper-IgE syndrome EFO EFO:0003775 one_to_one MONDO:0007818 autosomal dominant hyper-IgE syndrome GARD GARD:0006800 one_to_one @@ -44271,10 +44759,11 @@ MONDO:0007818 autosomal dominant hyper-IgE syndrome NCIT NCIT:C126342 one_to_one MONDO:0007818 autosomal dominant hyper-IgE syndrome OMIM OMIM:147060 one_to_one MONDO:0007818 autosomal dominant hyper-IgE syndrome Orphanet Orphanet:2314 one_to_one MONDO:0007818 autosomal dominant hyper-IgE syndrome SCTID SCTID:50926003 one_to_one +MONDO:0007818 autosomal dominant hyper-IgE syndrome http http://identifiers.org/hgnc/11364 disease_has_basis_in_dysfunction_of MONDO:0007819 solitary median maxillary central incisor syndrome GARD GARD:0004877 one_to_one MONDO:0007819 solitary median maxillary central incisor syndrome ICD10 ICD10:K00.2 inexact MONDO:0007819 solitary median maxillary central incisor syndrome MESH MESH:C537342 one_to_one -MONDO:0007819 solitary median maxillary central incisor syndrome MONDO MONDO:0015336,MONDO:0016296,MONDO:0017219 subclass +MONDO:0007819 solitary median maxillary central incisor syndrome MONDO MONDO:0007733,MONDO:0015336,MONDO:0017219 subclass MONDO:0007819 solitary median maxillary central incisor syndrome OMIM OMIM:147250 one_to_one MONDO:0007819 solitary median maxillary central incisor syndrome Orphanet Orphanet:2286 one_to_one MONDO:0007819 solitary median maxillary central incisor syndrome SCTID SCTID:707609006 one_to_one @@ -44319,6 +44808,7 @@ MONDO:0007828 indifference to pain, congenital, autosomal dominant UMLS UMLS:C18 MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 MONDO MONDO:0019072 subclass MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 OMIM OMIM:147480 one_to_one MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 UMLS UMLS:C3549845 one_to_one +MONDO:0007829 cholestasis, intrahepatic, of pregnancy, 1 http http://identifiers.org/hgnc/3706 disease_has_basis_in_dysfunction_of MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy MONDO MONDO:0003847 subclass MONDO:0007830 insensitivity to pain with hyperplastic Myelinopathy OMIM OMIM:147530 one_to_one MONDO:0007831 insect Stings, hypersensitivity to MONDO MONDO:0003847 subclass @@ -44349,6 +44839,7 @@ MONDO:0007836 IVIC syndrome OMIM OMIM:147750 one_to_one MONDO:0007836 IVIC syndrome Orphanet Orphanet:2307 one_to_one MONDO:0007836 IVIC syndrome SCTID SCTID:722019000 one_to_one MONDO:0007836 IVIC syndrome UMLS UMLS:C1327918 one_to_one +MONDO:0007836 IVIC syndrome http http://identifiers.org/hgnc/15924 disease_has_basis_in_dysfunction_of 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 @@ -44386,6 +44877,7 @@ MONDO:0007841 Coxopodopatellar syndrome OMIM OMIM:147891 one_to_one MONDO:0007841 Coxopodopatellar syndrome Orphanet Orphanet:1509 one_to_one MONDO:0007841 Coxopodopatellar syndrome SCTID SCTID:720752007 one_to_one MONDO:0007841 Coxopodopatellar syndrome UMLS UMLS:C1840061 one_to_one +MONDO:0007841 Coxopodopatellar syndrome http http://identifiers.org/hgnc/11603 disease_has_basis_in_dysfunction_of MONDO:0007842 Ehlers-Danlos syndrome type 11 GARD GARD:0003054 one_to_one MONDO:0007842 Ehlers-Danlos syndrome type 11 ICD10 ICD10:Q79.6 inexact MONDO:0007842 Ehlers-Danlos syndrome type 11 MESH MESH:C535884 one_to_one @@ -44397,15 +44889,17 @@ MONDO:0007842 Ehlers-Danlos syndrome type 11 UMLS UMLS:C0268349 one_to_one MONDO:0007843 Kabuki syndrome 1 MONDO MONDO:0016512 subclass MONDO:0007843 Kabuki syndrome 1 OMIM OMIM:147920 one_to_one MONDO:0007843 Kabuki syndrome 1 UMLS UMLS:CN030661 one_to_one +MONDO:0007843 Kabuki syndrome 1 http http://identifiers.org/hgnc/12637,http://identifiers.org/hgnc/7133 disease_has_basis_in_dysfunction_of MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia DOID DOID:0090083 one_to_one MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia GARD GARD:0003070 one_to_one MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia ICD10 ICD10:E23.0 inexact MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia MONDO MONDO:0018555,MONDO:0018800 subclass -MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia NCBIGene NCBIGene:2260 disease_has_basis_in_dysfunction_of MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia OMIM OMIM:147950 one_to_one MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia UMLS UMLS:C1563720 one_to_one +MONDO:0007844 hypogonadotropic hypogonadism 2 with or without anosmia http http://identifiers.org/hgnc/3688 disease_has_basis_in_dysfunction_of MONDO:0007845 Kaposi sarcoma, susceptibility to MONDO MONDO:0005055 subclass MONDO:0007845 Kaposi sarcoma, susceptibility to OMIM OMIM:148000 one_to_one +MONDO:0007845 Kaposi sarcoma, susceptibility to http http://identifiers.org/hgnc/6018 disease_has_basis_in_dysfunction_of MONDO:0007846 KBG syndrome DOID DOID:14780 one_to_one MONDO:0007846 KBG syndrome GARD GARD:0000082 one_to_one MONDO:0007846 KBG syndrome HP HP:0001249 disease_has_feature @@ -44417,6 +44911,7 @@ 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 MONDO:0007846 KBG syndrome UMLS UMLS:C0220687 one_to_one +MONDO:0007846 KBG syndrome http http://identifiers.org/hgnc/21316 disease_has_basis_in_dysfunction_of MONDO:0007847 keloid formation MONDO MONDO:0003847 subclass MONDO:0007847 keloid formation OMIM OMIM:148100 one_to_one MONDO:0007848 autosomal dominant keratitis GARD GARD:0003089 one_to_one @@ -44428,6 +44923,7 @@ 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 MONDO:0007848 autosomal dominant keratitis UMLS UMLS:C1835698,UMLS:C4017065,UMLS:CN068649 inexact +MONDO:0007848 autosomal dominant keratitis http http://identifiers.org/hgnc/8620 disease_has_basis_in_dysfunction_of MONDO:0007849 keratitis fugax hereditaria MESH MESH:C563650 one_to_one MONDO:0007849 keratitis fugax hereditaria MONDO MONDO:0003847 subclass MONDO:0007849 keratitis fugax hereditaria OMIM OMIM:148200 one_to_one @@ -44437,10 +44933,12 @@ MONDO:0007850 autosomal dominant keratitis-ichthyosis-deafness syndrome HP HP:00 MONDO:0007850 autosomal dominant keratitis-ichthyosis-deafness syndrome ICD10 ICD10:Q80.8 inexact MONDO:0007850 autosomal dominant keratitis-ichthyosis-deafness syndrome MONDO MONDO:0018781,MONDO:0020094 subclass MONDO:0007850 autosomal dominant keratitis-ichthyosis-deafness syndrome OMIM OMIM:148210 one_to_one +MONDO:0007850 autosomal dominant keratitis-ichthyosis-deafness syndrome http http://identifiers.org/hgnc/4284 disease_has_basis_in_dysfunction_of MONDO:0007851 keratoconus 1 MESH MESH:C563649 one_to_one MONDO:0007851 keratoconus 1 MONDO MONDO:0015486 subclass MONDO:0007851 keratoconus 1 OMIM OMIM:148300 one_to_one MONDO:0007851 keratoconus 1 UMLS UMLS:C1835677 one_to_one +MONDO:0007851 keratoconus 1 http http://identifiers.org/hgnc/12723 disease_has_basis_in_dysfunction_of MONDO:0007852 palmoplantar keratoderma-deafness syndrome GARD GARD:0003094 one_to_one MONDO:0007852 palmoplantar keratoderma-deafness syndrome ICD10 ICD10:Q82.8 inexact MONDO:0007852 palmoplantar keratoderma-deafness syndrome MESH MESH:C536152 one_to_one @@ -44448,6 +44946,7 @@ MONDO:0007852 palmoplantar keratoderma-deafness syndrome MONDO MONDO:0019589,MON MONDO:0007852 palmoplantar keratoderma-deafness syndrome OMIM OMIM:148350 one_to_one MONDO:0007852 palmoplantar keratoderma-deafness syndrome Orphanet Orphanet:2202 one_to_one MONDO:0007852 palmoplantar keratoderma-deafness syndrome UMLS UMLS:C1835672 one_to_one +MONDO:0007852 palmoplantar keratoderma-deafness syndrome http http://identifiers.org/hgnc/4284 disease_has_basis_in_dysfunction_of MONDO:0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy MESH MESH:C536153 one_to_one MONDO:0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy MONDO MONDO:0003847 subclass MONDO:0007853 keratoderma, palmoplantar, with nail dystrophy and hereditary motor-sensory neuropathy OMIM OMIM:148360 one_to_one @@ -44469,6 +44968,7 @@ MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome MONDO MONDO MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome OMIM OMIM:148500 one_to_one MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome Orphanet Orphanet:2198 one_to_one MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome SCTID SCTID:111030006 one_to_one +MONDO:0007856 palmoplantar keratoderma-esophageal carcinoma syndrome http http://identifiers.org/hgnc/20788 disease_has_basis_in_dysfunction_of MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome ICD10 ICD10:Q82.8 inexact MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome MESH MESH:C563646 one_to_one MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome MONDO MONDO:0020094 subclass @@ -44476,12 +44976,14 @@ MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome OMIM OMIM:14 MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome Orphanet Orphanet:86919 one_to_one MONDO:0007857 keratosis palmaris et plantaris-clinodactyly syndrome UMLS UMLS:C1835663 one_to_one MONDO:0007858 palmoplantar keratoderma, punctate type 1A DOID DOID:0080214 one_to_one -MONDO:0007858 palmoplantar keratoderma, punctate type 1A MONDO MONDO:0019332 subclass +MONDO:0007858 palmoplantar keratoderma, punctate type 1A MONDO MONDO:0017675,MONDO:0019332 subclass MONDO:0007858 palmoplantar keratoderma, punctate type 1A OMIM OMIM:148600 one_to_one +MONDO:0007858 palmoplantar keratoderma, punctate type 1A http http://identifiers.org/hgnc/25662 disease_has_basis_in_dysfunction_of MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse GARD GARD:0009172 one_to_one MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse MESH MESH:C536162 one_to_one MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse MONDO MONDO:0018865 subclass MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse OMIM OMIM:148700 one_to_one +MONDO:0007859 palmoplantar keratoderma i, striate, focal, or diffuse http http://identifiers.org/hgnc/3048 disease_has_basis_in_dysfunction_of MONDO:0007860 focal palmoplantar and gingival keratoderma GARD GARD:0003098 one_to_one MONDO:0007860 focal palmoplantar and gingival keratoderma ICD10 ICD10:Q82.8 inexact MONDO:0007860 focal palmoplantar and gingival keratoderma MESH MESH:C536157 one_to_one @@ -44502,6 +45004,7 @@ MONDO:0007862 Waardenburg syndrome type 3 ICD10 ICD10:E70.3 inexact MONDO:0007862 Waardenburg syndrome type 3 MONDO MONDO:0018094 subclass MONDO:0007862 Waardenburg syndrome type 3 OMIM OMIM:148820 one_to_one MONDO:0007862 Waardenburg syndrome type 3 Orphanet Orphanet:896 one_to_one +MONDO:0007862 Waardenburg syndrome type 3 http http://identifiers.org/hgnc/8617 disease_has_basis_in_dysfunction_of MONDO:0007863 Kleine-Levin syndrome DOID DOID:0060165 one_to_one MONDO:0007863 Kleine-Levin syndrome EFO EFO:1001354 one_to_one MONDO:0007863 Kleine-Levin syndrome GARD GARD:0003117 one_to_one @@ -44540,6 +45043,7 @@ MONDO:0007866 Bart-Pumphrey syndrome MONDO MONDO:0019589,MONDO:0020094 subclass MONDO:0007866 Bart-Pumphrey syndrome OMIM OMIM:149200 one_to_one MONDO:0007866 Bart-Pumphrey syndrome Orphanet Orphanet:2698 one_to_one MONDO:0007866 Bart-Pumphrey syndrome SCTID SCTID:1271009 one_to_one +MONDO:0007866 Bart-Pumphrey syndrome http http://identifiers.org/hgnc/4284 disease_has_basis_in_dysfunction_of MONDO:0007867 nonsyndromic congenital nail disorder 2 DOID DOID:0080080 one_to_one MONDO:0007867 nonsyndromic congenital nail disorder 2 GARD GARD:0009760 one_to_one MONDO:0007867 nonsyndromic congenital nail disorder 2 ICD9 ICD9:703.8 inexact @@ -44551,6 +45055,7 @@ MONDO:0007868 hyperekplexia 1 DOID DOID:0060696 one_to_one MONDO:0007868 hyperekplexia 1 ICD10 ICD10:G25.8 inexact MONDO:0007868 hyperekplexia 1 MONDO MONDO:0021022 subclass MONDO:0007868 hyperekplexia 1 OMIM OMIM:149400 one_to_one +MONDO:0007868 hyperekplexia 1 http http://identifiers.org/hgnc/15465,http://identifiers.org/hgnc/4326 disease_has_basis_in_dysfunction_of MONDO:0007869 Kyrle disease GARD GARD:0009738 one_to_one MONDO:0007869 Kyrle disease MESH MESH:C538130 one_to_one MONDO:0007869 Kyrle disease MONDO MONDO:0003847 subclass @@ -44564,6 +45069,7 @@ MONDO:0007871 familial congenital nasolacrimal duct obstruction MESH MESH:C56670 MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO 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 MONDO:0007872 LADD syndrome DOID DOID:0050331 one_to_one MONDO:0007872 LADD syndrome GARD GARD:0006848 one_to_one MONDO:0007872 LADD syndrome ICD10 ICD10:Q87.8 inexact @@ -44574,6 +45080,7 @@ MONDO:0007872 LADD syndrome OMIM OMIM:149730 one_to_one MONDO:0007872 LADD syndrome Orphanet Orphanet:2363 one_to_one MONDO:0007872 LADD syndrome SCTID SCTID:23817003 one_to_one MONDO:0007872 LADD syndrome UMLS UMLS:C0265269 one_to_one +MONDO:0007872 LADD syndrome http http://identifiers.org/hgnc/3666,http://identifiers.org/hgnc/3689,http://identifiers.org/hgnc/3690 disease_has_basis_in_dysfunction_of MONDO:0007873 lactic acidosis, chronic adult form MESH MESH:C563640 one_to_one MONDO:0007873 lactic acidosis, chronic adult form MONDO MONDO:0003847 subclass MONDO:0007873 lactic acidosis, chronic adult form OMIM OMIM:150170 one_to_one @@ -44602,6 +45109,7 @@ MONDO:0007875 Larsen syndrome OMIM OMIM:150250 one_to_one MONDO:0007875 Larsen syndrome Orphanet Orphanet:503 one_to_one MONDO:0007875 Larsen syndrome SCTID SCTID:63387002 one_to_one MONDO:0007875 Larsen syndrome UMLS UMLS:C0175778 one_to_one +MONDO:0007875 Larsen syndrome http http://identifiers.org/hgnc/3755 disease_has_basis_in_dysfunction_of MONDO:0007876 laryngeal abductor paralysis GARD GARD:0005509 one_to_one MONDO:0007876 laryngeal abductor paralysis ICD10 ICD10:J38.0 inexact MONDO:0007876 laryngeal abductor paralysis ICD9 ICD9:748.3 inexact @@ -44646,6 +45154,7 @@ MONDO:0007880 congenital laryngeal web SCTID SCTID:444921008 one_to_one MONDO:0007881 tooth agenesis, selective, 4 MESH MESH:C563634 one_to_one MONDO:0007881 tooth agenesis, selective, 4 MONDO MONDO:0003847,MONDO:0005486 subclass MONDO:0007881 tooth agenesis, selective, 4 OMIM OMIM:150400 one_to_one +MONDO:0007881 tooth agenesis, selective, 4 http http://identifiers.org/hgnc/13829 disease_has_basis_in_dysfunction_of MONDO:0007882 lattice degeneration of retina leading to retinal detachment MESH MESH:C563633 one_to_one MONDO:0007882 lattice degeneration of retina leading to retinal detachment MONDO MONDO:0003847 subclass MONDO:0007882 lattice degeneration of retina leading to retinal detachment OMIM OMIM:150500 one_to_one @@ -44666,7 +45175,7 @@ MONDO:0007885 Legg-Calve-Perthes disease GARD GARD:0006874 one_to_one MONDO:0007885 Legg-Calve-Perthes disease HP HP:0010885 disease_has_feature MONDO:0007885 Legg-Calve-Perthes disease ICD10 ICD10:M91.1,ICD10:M91.2,ICD10:M91.3 inexact MONDO:0007885 Legg-Calve-Perthes disease MESH MESH:D007873 one_to_one -MONDO:0007885 Legg-Calve-Perthes disease MONDO MONDO:0018385,MONDO:0019686 subclass +MONDO:0007885 Legg-Calve-Perthes disease MONDO MONDO:0018385,MONDO:0019686,MONDO:0022800 subclass MONDO:0007885 Legg-Calve-Perthes disease MedDRA MedDRA:10034735 one_to_one MONDO:0007885 Legg-Calve-Perthes disease NCIT NCIT:C34766 one_to_one MONDO:0007885 Legg-Calve-Perthes disease OMIM OMIM:150600 one_to_one @@ -44682,9 +45191,11 @@ MONDO:0007886 uterine corpus leiomyoma ICD9 ICD9:218,ICD9:218.9 inexact MONDO:0007886 uterine corpus leiomyoma MONDO MONDO:0001572,MONDO:0005167,MONDO:0015981,MONDO:0017127,MONDO:0021525 subclass MONDO:0007886 uterine corpus leiomyoma NCIT NCIT:C3434 one_to_one MONDO:0007886 uterine corpus leiomyoma OMIM OMIM:150699 one_to_one +MONDO:0007886 uterine corpus leiomyoma ONCOTREE ONCOTREE:ULM one_to_one MONDO:0007886 uterine corpus leiomyoma SCTID SCTID:95315005 one_to_one MONDO:0007886 uterine corpus leiomyoma UBERON UBERON:0009853 disease_has_location MONDO:0007886 uterine corpus leiomyoma UMLS UMLS:C0042133,UMLS:C2242776 inexact +MONDO:0007886 uterine corpus leiomyoma http http://identifiers.org/hgnc/5009 disease_has_basis_in_dysfunction_of MONDO:0007887 leiomyoma of vulva and esophagus GARD GARD:0010097 one_to_one MONDO:0007887 leiomyoma of vulva and esophagus MESH MESH:C537006 one_to_one MONDO:0007887 leiomyoma of vulva and esophagus MONDO MONDO:0010641 subclass @@ -44717,6 +45228,7 @@ 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 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 MONDO:0007893 Noonan syndrome with multiple lentigines DOID DOID:14291 one_to_one MONDO:0007893 Noonan syndrome with multiple lentigines GARD GARD:0001100 one_to_one MONDO:0007893 Noonan syndrome with multiple lentigines ICD10 ICD10:Q87.1 inexact @@ -44730,6 +45242,7 @@ MONDO:0007893 Noonan syndrome with multiple lentigines OMIMPS OMIMPS:151100 one_ MONDO:0007893 Noonan syndrome with multiple lentigines Orphanet Orphanet:500 one_to_one MONDO:0007893 Noonan syndrome with multiple lentigines SCTID SCTID:111306001 one_to_one MONDO:0007893 Noonan syndrome with multiple lentigines UMLS UMLS:C0175704,UMLS:CN074218 inexact +MONDO:0007893 Noonan syndrome with multiple lentigines http http://identifiers.org/hgnc/9644 disease_has_basis_in_dysfunction_of MONDO:0007894 Leri pleonosteosis GARD GARD:0000088 one_to_one MONDO:0007894 Leri pleonosteosis ICD10 ICD10:Q68.8 inexact MONDO:0007894 Leri pleonosteosis MESH MESH:C537118 one_to_one @@ -44740,7 +45253,7 @@ MONDO:0007894 Leri pleonosteosis UMLS UMLS:C1835450 one_to_one MONDO:0007895 Platyspondylic dysplasia, Torrance type GARD GARD:0004382 one_to_one MONDO:0007895 Platyspondylic dysplasia, Torrance type ICD10 ICD10:Q77.8 inexact MONDO:0007895 Platyspondylic dysplasia, Torrance type MESH MESH:C563627 one_to_one -MONDO:0007895 Platyspondylic dysplasia, Torrance type MONDO MONDO:0015960,MONDO:0019686,MONDO:0019694 subclass +MONDO:0007895 Platyspondylic dysplasia, Torrance type MONDO MONDO:0015960,MONDO:0019686,MONDO:0019694,MONDO:0022800 subclass MONDO:0007895 Platyspondylic dysplasia, Torrance type OMIM OMIM:151210 one_to_one MONDO:0007895 Platyspondylic dysplasia, Torrance type Orphanet Orphanet:85166 one_to_one MONDO:0007895 Platyspondylic dysplasia, Torrance type UMLS UMLS:C1835437 one_to_one @@ -44784,6 +45297,7 @@ MONDO:0007900 nonsyndromic congenital nail disorder 3 MONDO MONDO:0016471 exclud MONDO:0007900 nonsyndromic congenital nail disorder 3 MONDO MONDO:0019284 subclass MONDO:0007900 nonsyndromic congenital nail disorder 3 OMIM OMIM:151600 one_to_one MONDO:0007900 nonsyndromic congenital nail disorder 3 SCTID SCTID:74102009 one_to_one +MONDO:0007900 nonsyndromic congenital nail disorder 3 http http://identifiers.org/hgnc/9060 disease_has_basis_in_dysfunction_of MONDO:0007901 levator-medial rectus synkinesis MESH MESH:C563625 one_to_one MONDO:0007901 levator-medial rectus synkinesis MONDO MONDO:0003847 subclass MONDO:0007901 levator-medial rectus synkinesis OMIM OMIM:151610 one_to_one @@ -44796,6 +45310,7 @@ MONDO:0007902 lichen planus, familial UMLS UMLS:C1835402 one_to_one MONDO:0007903 Li-Fraumeni syndrome 1 MONDO MONDO:0018875 subclass MONDO:0007903 Li-Fraumeni syndrome 1 OMIM OMIM:151623 one_to_one MONDO:0007903 Li-Fraumeni syndrome 1 UMLS UMLS:C1835398 one_to_one +MONDO:0007903 Li-Fraumeni syndrome 1 http http://identifiers.org/hgnc/11998 disease_has_basis_in_dysfunction_of MONDO:0007904 median nodule of the upper lip GARD GARD:0003440 one_to_one MONDO:0007904 median nodule of the upper lip ICD10 ICD10:Q18.8 inexact MONDO:0007904 median nodule of the upper lip MONDO MONDO:0043008 subclass @@ -44813,6 +45328,7 @@ MONDO:0007906 familial partial lipodystrophy, Dunnigan type MONDO MONDO:0015327, MONDO:0007906 familial partial lipodystrophy, Dunnigan type OMIM OMIM:151660 one_to_one MONDO:0007906 familial partial lipodystrophy, Dunnigan type Orphanet Orphanet:2348 one_to_one MONDO:0007906 familial partial lipodystrophy, Dunnigan type SCTID SCTID:715439000 one_to_one +MONDO:0007906 familial partial lipodystrophy, Dunnigan type http http://identifiers.org/hgnc/6636 disease_has_basis_in_dysfunction_of MONDO:0007907 lipoma of the conjunctiva MESH MESH:C563620 one_to_one MONDO:0007907 lipoma of the conjunctiva MONDO MONDO:0006105,MONDO:0021630 subclass MONDO:0007907 lipoma of the conjunctiva OMIM OMIM:151700 one_to_one @@ -44821,7 +45337,7 @@ MONDO:0007908 multiple symmetric lipomatosis DOID DOID:14116 one_to_one MONDO:0007908 multiple symmetric lipomatosis EFO EFO:1000737 one_to_one MONDO:0007908 multiple symmetric lipomatosis GARD GARD:0006957 one_to_one MONDO:0007908 multiple symmetric lipomatosis ICD10 ICD10:E88.8 inexact -MONDO:0007908 multiple symmetric lipomatosis MONDO MONDO:0006574,MONDO:0015949,MONDO:0019296 subclass +MONDO:0007908 multiple symmetric lipomatosis MONDO MONDO:0006574,MONDO:0015949,MONDO:0015950,MONDO:0017127,MONDO:0019296,MONDO:0021440 subclass MONDO:0007908 multiple symmetric lipomatosis NCIT NCIT:C4392 one_to_one MONDO:0007908 multiple symmetric lipomatosis OMIM OMIM:151800 one_to_one MONDO:0007908 multiple symmetric lipomatosis Orphanet Orphanet:2398 one_to_one @@ -44830,7 +45346,7 @@ MONDO:0007908 multiple symmetric lipomatosis UMLS UMLS:C0023804,UMLS:C0024445,UM MONDO:0007909 familial multiple lipomatosis GARD GARD:0012925 one_to_one MONDO:0007909 familial multiple lipomatosis ICD10 ICD10:E88.2 inexact MONDO:0007909 familial multiple lipomatosis ICD9 ICD9:214.8,ICD9:214.9 inexact -MONDO:0007909 familial multiple lipomatosis MONDO MONDO:0000964,MONDO:0015949,MONDO:0015950,MONDO:0019296 subclass +MONDO:0007909 familial multiple lipomatosis MONDO MONDO:0000964,MONDO:0015949,MONDO:0015950,MONDO:0017127,MONDO:0019296 subclass MONDO:0007909 familial multiple lipomatosis OMIM OMIM:151900 one_to_one MONDO:0007909 familial multiple lipomatosis Orphanet Orphanet:199276 one_to_one MONDO:0007909 familial multiple lipomatosis SCTID SCTID:93163002 one_to_one @@ -44859,6 +45375,7 @@ MONDO:0007915 systemic lupus erythematosus (disease) MONDO MONDO:0004670 subclas MONDO:0007915 systemic lupus erythematosus (disease) NCIT NCIT:C3201 one_to_one MONDO:0007915 systemic lupus erythematosus (disease) OMIM OMIM:152700 one_to_one MONDO:0007915 systemic lupus erythematosus (disease) SCTID SCTID:55464009 one_to_one +MONDO:0007915 systemic lupus erythematosus (disease) http http://identifiers.org/hgnc/12269,http://identifiers.org/hgnc/18233,http://identifiers.org/hgnc/2505,http://identifiers.org/hgnc/2956,http://identifiers.org/hgnc/3616,http://identifiers.org/hgnc/3618,http://identifiers.org/hgnc/9652 disease_has_basis_in_dysfunction_of MONDO:0007916 primary intestinal lymphangiectasia GARD GARD:0007873 one_to_one MONDO:0007916 primary intestinal lymphangiectasia ICD10 ICD10:I89.0 inexact MONDO:0007916 primary intestinal lymphangiectasia ICD9 ICD9:457.1 inexact @@ -44881,13 +45398,15 @@ MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or men 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 +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation http http://identifiers.org/hgnc/6388 disease_has_basis_in_dysfunction_of MONDO:0007919 lymphedema, hereditary, 1A MONDO MONDO:0019313 subclass MONDO:0007919 lymphedema, hereditary, 1A OMIM OMIM:153100 one_to_one +MONDO:0007919 lymphedema, hereditary, 1A http http://identifiers.org/hgnc/3767 disease_has_basis_in_dysfunction_of MONDO:0007920 Meige disease DOID DOID:3982 one_to_one MONDO:0007920 Meige disease GARD GARD:0003324 one_to_one MONDO:0007920 Meige disease ICD10 ICD10:Q82.0 inexact MONDO:0007920 Meige disease MESH MESH:C562467,MESH:D008538 inexact -MONDO:0007920 Meige disease MONDO MONDO:0000486,MONDO:0018331,MONDO:0019313,MONDO:0019520 subclass +MONDO:0007920 Meige disease MONDO MONDO:0000486,MONDO:0019313,MONDO:0019520,MONDO:0044807 subclass MONDO:0007920 Meige disease MedDRA MedDRA:10027138 one_to_one MONDO:0007920 Meige disease OMIM OMIM:153200 one_to_one MONDO:0007920 Meige disease Orphanet Orphanet:90186 one_to_one @@ -44914,6 +45433,7 @@ MONDO:0007922 lymphedema-distichiasis syndrome OMIM OMIM:153400 one_to_one MONDO:0007922 lymphedema-distichiasis syndrome Orphanet Orphanet:33001 one_to_one MONDO:0007922 lymphedema-distichiasis syndrome SCTID SCTID:8634009 one_to_one MONDO:0007922 lymphedema-distichiasis syndrome UMLS UMLS:C0265345 one_to_one +MONDO:0007922 lymphedema-distichiasis syndrome http http://identifiers.org/hgnc/3801 disease_has_basis_in_dysfunction_of MONDO:0007923 macrocephaly, benign familial GARD GARD:0000147 one_to_one MONDO:0007923 macrocephaly, benign familial MESH MESH:C537717 one_to_one MONDO:0007923 macrocephaly, benign familial MONDO MONDO:0003847 subclass @@ -44929,6 +45449,7 @@ MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome OMIM OMIM:153480 one_to_one MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome Orphanet Orphanet:109 one_to_one MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome SCTID SCTID:21984008 one_to_one MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome UMLS UMLS:C0265326 one_to_one +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome http http://identifiers.org/hgnc/9588 disease_has_basis_in_dysfunction_of MONDO:0007925 chromosome 5q deletion syndrome COHD COHD:136950 one_to_one MONDO:0007925 chromosome 5q deletion syndrome DOID DOID:0090016 one_to_one MONDO:0007925 chromosome 5q deletion syndrome GARD GARD:0008723 one_to_one @@ -44941,6 +45462,7 @@ MONDO:0007925 chromosome 5q deletion syndrome NCIT NCIT:C6867 one_to_one MONDO:0007925 chromosome 5q deletion syndrome OMIM OMIM:153550 one_to_one MONDO:0007925 chromosome 5q deletion syndrome Orphanet Orphanet:86841 one_to_one MONDO:0007925 chromosome 5q deletion syndrome SCTID SCTID:277597005 one_to_one +MONDO:0007925 chromosome 5q deletion syndrome http http://identifiers.org/hgnc/10387 disease_has_basis_in_dysfunction_of MONDO:0007926 Waldenstrom macroglobulinemia DOID DOID:0060901 one_to_one MONDO:0007926 Waldenstrom macroglobulinemia GARD GARD:0007872 one_to_one MONDO:0007926 Waldenstrom macroglobulinemia ICD10 ICD10:C88.0 inexact @@ -44950,8 +45472,10 @@ MONDO:0007926 Waldenstrom macroglobulinemia MedDRA MedDRA:10047801 one_to_one MONDO:0007926 Waldenstrom macroglobulinemia NCIT NCIT:C35548,NCIT:C38698,NCIT:C4731,NCIT:C8288 has_finding MONDO:0007926 Waldenstrom macroglobulinemia NCIT NCIT:C80307 one_to_one MONDO:0007926 Waldenstrom macroglobulinemia OMIM OMIM:153600 one_to_one +MONDO:0007926 Waldenstrom macroglobulinemia ONCOTREE ONCOTREE:WM one_to_one MONDO:0007926 Waldenstrom macroglobulinemia Orphanet Orphanet:33226 one_to_one MONDO:0007926 Waldenstrom macroglobulinemia UMLS UMLS:C0024419 one_to_one +MONDO:0007926 Waldenstrom macroglobulinemia http http://identifiers.org/hgnc/7562 disease_has_basis_in_dysfunction_of MONDO:0007927 congenital macroglossia ICD10 ICD10:Q38.2 inexact MONDO:0007927 congenital macroglossia ICD9 ICD9:750.15 one_to_one MONDO:0007927 congenital macroglossia MESH MESH:C531735 one_to_one @@ -44965,12 +45489,14 @@ MONDO:0007928 Fechtner syndrome NCIT NCIT:C131642 one_to_one MONDO:0007928 Fechtner syndrome OMIM OMIM:153640 one_to_one MONDO:0007928 Fechtner syndrome SCTID SCTID:236422008 one_to_one MONDO:0007928 Fechtner syndrome UMLS UMLS:C0403445,UMLS:CN226030 inexact +MONDO:0007928 Fechtner syndrome http http://identifiers.org/hgnc/7579 disease_has_basis_in_dysfunction_of MONDO:0007929 Epstein syndrome ICD9 ICD9:759.89 inexact MONDO:0007929 Epstein syndrome MONDO MONDO:0002254,MONDO:0015912 subclass MONDO:0007929 Epstein syndrome NCIT NCIT:C131639 one_to_one MONDO:0007929 Epstein syndrome OMIM OMIM:153650 one_to_one MONDO:0007929 Epstein syndrome SCTID SCTID:234485006 one_to_one MONDO:0007929 Epstein syndrome UMLS UMLS:C0398641,UMLS:CN226018 inexact +MONDO:0007929 Epstein syndrome http http://identifiers.org/hgnc/7579 disease_has_basis_in_dysfunction_of MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant DOID DOID:0111059 one_to_one MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant MONDO MONDO:0009276 subclass MONDO:0007930 Bernard-Soulier syndrome, type A2, autosomal dominant OMIM OMIM:153670 one_to_one @@ -44980,11 +45506,13 @@ MONDO:0007931 best vitelliform macular dystrophy ICD10 ICD10:H35.5 inexact MONDO:0007931 best vitelliform macular dystrophy MONDO MONDO:0000390 subclass MONDO:0007931 best vitelliform macular dystrophy OMIM OMIM:153700 one_to_one MONDO:0007931 best vitelliform macular dystrophy Orphanet Orphanet:1243 one_to_one +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 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 MONDO:0007933 VMD1 GARD GARD:0010120 one_to_one MONDO:0007933 VMD1 MESH MESH:C537832 one_to_one MONDO:0007933 VMD1 MONDO MONDO:0011979 subclass @@ -45013,10 +45541,11 @@ MONDO:0007937 renal hypomagnesemia 2 DOID DOID:0060885 one_to_one MONDO:0007937 renal hypomagnesemia 2 GARD GARD:0003350 one_to_one MONDO:0007937 renal hypomagnesemia 2 ICD10 ICD10:E83.4 inexact MONDO:0007937 renal hypomagnesemia 2 MESH MESH:C537152 one_to_one -MONDO:0007937 renal hypomagnesemia 2 MONDO MONDO:0017625 subclass +MONDO:0007937 renal hypomagnesemia 2 MONDO MONDO:0017625,MONDO:0018100 subclass MONDO:0007937 renal hypomagnesemia 2 OMIM OMIM:154020 one_to_one MONDO:0007937 renal hypomagnesemia 2 Orphanet Orphanet:34528 one_to_one MONDO:0007937 renal hypomagnesemia 2 UMLS UMLS:C1835171,UMLS:C4511005 inexact +MONDO:0007937 renal hypomagnesemia 2 http http://identifiers.org/hgnc/4026 disease_has_basis_in_dysfunction_of MONDO:0007938 46,XY sex reversal 4 MESH MESH:C567887 one_to_one MONDO:0007938 46,XY sex reversal 4 MONDO MONDO:0010765,MONDO:0016674,MONDO:0019313,MONDO:0024573 subclass MONDO:0007938 46,XY sex reversal 4 NCIT NCIT:C132270 one_to_one @@ -45042,9 +45571,11 @@ MONDO:0007943 Nager acrofacial dysostosis OMIM OMIM:154400 one_to_one MONDO:0007943 Nager acrofacial dysostosis Orphanet Orphanet:245 one_to_one MONDO:0007943 Nager acrofacial dysostosis SCTID SCTID:35520007 one_to_one MONDO:0007943 Nager acrofacial dysostosis UMLS UMLS:C0265245 one_to_one +MONDO:0007943 Nager acrofacial dysostosis http http://identifiers.org/hgnc/10771 disease_has_basis_in_dysfunction_of MONDO:0007944 Treacher-Collins syndrome 1 MONDO MONDO:0002457 subclass MONDO:0007944 Treacher-Collins syndrome 1 OMIM OMIM:154500 one_to_one MONDO:0007944 Treacher-Collins syndrome 1 UMLS UMLS:CN119605 one_to_one +MONDO:0007944 Treacher-Collins syndrome 1 http http://identifiers.org/hgnc/11654 disease_has_basis_in_dysfunction_of MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type MESH MESH:C563601 one_to_one MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type MONDO MONDO:0003847 subclass MONDO:0007945 mannose 6-phosphate receptor recognition defect, Lebanese type OMIM OMIM:154570 one_to_one @@ -45073,6 +45604,7 @@ MONDO:0007947 Marfan syndrome OMIM OMIM:154700 one_to_one MONDO:0007947 Marfan syndrome Orphanet Orphanet:284963,Orphanet:558 inexact MONDO:0007947 Marfan syndrome SCTID SCTID:19346006 one_to_one MONDO:0007947 Marfan syndrome UMLS UMLS:C0024796,UMLS:CN202883 inexact +MONDO:0007947 Marfan syndrome http http://identifiers.org/hgnc/3603 disease_has_basis_in_dysfunction_of MONDO:0007948 marfanoid hypermobility syndrome GARD GARD:0003387 one_to_one MONDO:0007948 marfanoid hypermobility syndrome MESH MESH:C531742 one_to_one MONDO:0007948 marfanoid hypermobility syndrome MONDO MONDO:0007947 excluded_subClassOf @@ -45089,6 +45621,7 @@ MONDO:0007949 Marshall syndrome OMIM OMIM:154780 one_to_one MONDO:0007949 Marshall syndrome Orphanet Orphanet:560 one_to_one MONDO:0007949 Marshall syndrome SCTID SCTID:33410002 one_to_one MONDO:0007949 Marshall syndrome UMLS UMLS:C0265235 one_to_one +MONDO:0007949 Marshall syndrome http http://identifiers.org/hgnc/2186 disease_has_basis_in_dysfunction_of MONDO:0007950 mastocytosis DOID DOID:350 one_to_one MONDO:0007950 mastocytosis GARD GARD:0006987 one_to_one MONDO:0007950 mastocytosis ICD10 ICD10:C96.2,ICD10:D47.0,ICD10:Q82.2 inexact @@ -45101,6 +45634,7 @@ MONDO:0007950 mastocytosis OMIM OMIM:154800 one_to_one MONDO:0007950 mastocytosis ONCOTREE ONCOTREE:MCD one_to_one MONDO:0007950 mastocytosis Orphanet Orphanet:98292 one_to_one MONDO:0007950 mastocytosis UMLS UMLS:C0024899 one_to_one +MONDO:0007950 mastocytosis http http://identifiers.org/hgnc/6342 disease_has_basis_in_dysfunction_of MONDO:0007951 masticatory muscles, hypertrophy of MESH MESH:C563600 one_to_one MONDO:0007951 masticatory muscles, hypertrophy of MONDO MONDO:0003847 subclass MONDO:0007951 masticatory muscles, hypertrophy of OMIM OMIM:154850 one_to_one @@ -45123,6 +45657,7 @@ MONDO:0007954 May-Hegglin anomaly MONDO MONDO:0002254,MONDO:0015912 subclass MONDO:0007954 May-Hegglin anomaly NCIT NCIT:C131646 one_to_one MONDO:0007954 May-Hegglin anomaly OMIM OMIM:155100 one_to_one MONDO:0007954 May-Hegglin anomaly SCTID SCTID:234484005 one_to_one +MONDO:0007954 May-Hegglin anomaly http http://identifiers.org/hgnc/7579 disease_has_basis_in_dysfunction_of MONDO:0007955 Meckel's diverticulum COHD COHD:441394 one_to_one MONDO:0007955 Meckel's diverticulum DOID DOID:9487 one_to_one MONDO:0007955 Meckel's diverticulum EFO EFO:1001036 one_to_one @@ -45131,6 +45666,7 @@ MONDO:0007955 Meckel's diverticulum ICD9 ICD9:751.0 one_to_one MONDO:0007955 Meckel's diverticulum MESH MESH:D008467 one_to_one MONDO:0007955 Meckel's diverticulum MONDO MONDO:0000839,MONDO:0003847 subclass MONDO:0007955 Meckel's diverticulum MedDRA MedDRA:10027055 one_to_one +MONDO:0007955 Meckel's diverticulum NCIT NCIT:C12264 one_to_one MONDO:0007955 Meckel's diverticulum OMIM OMIM:155140 one_to_one MONDO:0007955 Meckel's diverticulum SCTID SCTID:37373007 one_to_one MONDO:0007956 Pai syndrome GARD GARD:0003439 one_to_one @@ -45151,6 +45687,7 @@ MONDO:0007958 familial medullary thyroid carcinoma MONDO MONDO:0015277,MONDO:001 MONDO:0007958 familial medullary thyroid carcinoma OMIM OMIM:155240 one_to_one MONDO:0007958 familial medullary thyroid carcinoma Orphanet Orphanet:99361 one_to_one MONDO:0007958 familial medullary thyroid carcinoma UMLS UMLS:C1833921 one_to_one +MONDO:0007958 familial medullary thyroid carcinoma http http://identifiers.org/hgnc/8031,http://identifiers.org/hgnc/9967 disease_has_basis_in_dysfunction_of MONDO:0007959 medulloblastoma DOID DOID:0050902,DOID:0060104 inexact MONDO:0007959 medulloblastoma EFO EFO:0002939 one_to_one MONDO:0007959 medulloblastoma GARD GARD:0007005 one_to_one @@ -45162,10 +45699,12 @@ MONDO:0007959 medulloblastoma MedDRA MedDRA:10027107 one_to_one MONDO:0007959 medulloblastoma NCIT NCIT:C3442,NCIT:C34661,NCIT:C3834 has_finding MONDO:0007959 medulloblastoma NCIT NCIT:C3222 one_to_one MONDO:0007959 medulloblastoma OMIM OMIM:155255 one_to_one +MONDO:0007959 medulloblastoma ONCOTREE ONCOTREE:MBL one_to_one MONDO:0007959 medulloblastoma Orphanet Orphanet:616 one_to_one MONDO:0007959 medulloblastoma SCTID SCTID:443333004 one_to_one MONDO:0007959 medulloblastoma UBERON UBERON:0002037 disease_has_location MONDO:0007959 medulloblastoma UMLS UMLS:C0025149,UMLS:C1334410 inexact +MONDO:0007959 medulloblastoma http http://identifiers.org/hgnc/1101,http://identifiers.org/hgnc/16466,http://identifiers.org/hgnc/2514,http://identifiers.org/hgnc/9586 disease_has_basis_in_dysfunction_of MONDO:0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome DOID DOID:0060610 one_to_one MONDO:0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome GARD GARD:0003442 one_to_one MONDO:0007960 megacystis-microcolon-intestinal hypoperistalsis syndrome ICD10 ICD10:Q43.8 inexact @@ -45187,10 +45726,14 @@ MONDO:0007962 Megalodactyly SCTID SCTID:48449000 one_to_one MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 MONDO MONDO:0018453,MONDO:0024462 subclass MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 OMIM OMIM:155600 one_to_one MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 SCTID SCTID:254819008 one_to_one +MONDO:0007963 melanoma, cutaneous malignant, susceptibility to, 1 http http://identifiers.org/hgnc/9588 disease_has_basis_in_dysfunction_of MONDO:0007964 dysplastic nevus syndrome DOID DOID:10041 one_to_one +MONDO:0007964 dysplastic nevus syndrome EFO EFO:0004199 one_to_one MONDO:0007964 dysplastic nevus syndrome MESH MESH:D004416 one_to_one MONDO:0007964 dysplastic nevus syndrome MONDO MONDO:0000426,MONDO:0024462 subclass +MONDO:0007964 dysplastic nevus syndrome NCIT NCIT:C7584 one_to_one MONDO:0007964 dysplastic nevus syndrome OMIM OMIM:155601 one_to_one +MONDO:0007964 dysplastic nevus syndrome http http://identifiers.org/hgnc/1787 disease_has_basis_in_dysfunction_of MONDO:0007965 melanoma, malignant familial intraocular MESH MESH:C563596 one_to_one MONDO:0007965 melanoma, malignant familial intraocular MONDO MONDO:0018961 subclass MONDO:0007965 melanoma, malignant familial intraocular OMIM OMIM:155700 one_to_one @@ -45204,6 +45747,7 @@ MONDO:0007967 melanoma and neural system tumor syndrome OMIM OMIM:155755 one_to_ 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 MONDO:0007967 melanoma and neural system tumor syndrome UMLS UMLS:C1835042 one_to_one +MONDO:0007967 melanoma and neural system tumor syndrome http http://identifiers.org/hgnc/1787 disease_has_basis_in_dysfunction_of MONDO:0007968 melanoma tumor antigen Gp90 MONDO MONDO:0003847 subclass MONDO:0007968 melanoma tumor antigen Gp90 OMIM OMIM:155770 one_to_one MONDO:0007969 Melkersson-Rosenthal syndrome DOID DOID:1761 one_to_one @@ -45229,6 +45773,7 @@ MONDO:0007970 melorheostosis OMIM OMIM:155950 one_to_one MONDO:0007970 melorheostosis Orphanet Orphanet:2485 one_to_one MONDO:0007970 melorheostosis SCTID SCTID:44697002 one_to_one MONDO:0007970 melorheostosis UMLS UMLS:C0025239 one_to_one +MONDO:0007970 melorheostosis http http://identifiers.org/hgnc/28887 disease_has_basis_in_dysfunction_of MONDO:0007971 delayed membranous cranial ossification GARD GARD:0001727 one_to_one MONDO:0007971 delayed membranous cranial ossification ICD10 ICD10:Q75.8 inexact MONDO:0007971 delayed membranous cranial ossification MESH MESH:C563592 one_to_one @@ -45256,6 +45801,7 @@ MONDO:0007974 intellectual disability, autosomal dominant 1 MESH MESH:C566947 on MONDO:0007974 intellectual disability, autosomal dominant 1 MONDO MONDO:0015802 subclass MONDO:0007974 intellectual disability, autosomal dominant 1 NCIT NCIT:C141424 one_to_one 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 OMIM OMIM:156220 one_to_one @@ -45281,6 +45827,7 @@ MONDO:0007979 metachondromatosis OMIM OMIM:156250 one_to_one MONDO:0007979 metachondromatosis Orphanet Orphanet:2499 one_to_one MONDO:0007979 metachondromatosis SCTID SCTID:205481009 one_to_one MONDO:0007979 metachondromatosis UMLS UMLS:C0410530 one_to_one +MONDO:0007979 metachondromatosis http http://identifiers.org/hgnc/9644 disease_has_basis_in_dysfunction_of MONDO:0007980 metachromasia of fibroblasts MONDO MONDO:0003847 subclass MONDO:0007980 metachromasia of fibroblasts OMIM OMIM:156300 one_to_one MONDO:0007981 metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a MESH MESH:C563587 one_to_one @@ -45298,6 +45845,7 @@ MONDO:0007982 metaphyseal chondrodysplasia, Jansen type OMIM OMIM:156400 one_to_ MONDO:0007982 metaphyseal chondrodysplasia, Jansen type Orphanet Orphanet:33067 one_to_one MONDO:0007982 metaphyseal chondrodysplasia, Jansen type SCTID SCTID:24629003 one_to_one MONDO:0007982 metaphyseal chondrodysplasia, Jansen type UMLS UMLS:C0265295 one_to_one +MONDO:0007982 metaphyseal chondrodysplasia, Jansen type http http://identifiers.org/hgnc/9608 disease_has_basis_in_dysfunction_of MONDO:0007983 Schmid metaphyseal chondrodysplasia DOID DOID:0080021 one_to_one MONDO:0007983 Schmid metaphyseal chondrodysplasia GARD GARD:0007029 one_to_one MONDO:0007983 Schmid metaphyseal chondrodysplasia HP HP:0003510,HP:0100255 disease_has_feature @@ -45307,12 +45855,14 @@ MONDO:0007983 Schmid metaphyseal chondrodysplasia MONDO MONDO:0000138,MONDO:0019 MONDO:0007983 Schmid metaphyseal chondrodysplasia OMIM OMIM:156500 one_to_one MONDO:0007983 Schmid metaphyseal chondrodysplasia Orphanet Orphanet:174 one_to_one MONDO:0007983 Schmid metaphyseal chondrodysplasia SCTID SCTID:29248006 one_to_one +MONDO:0007983 Schmid metaphyseal chondrodysplasia http http://identifiers.org/hgnc/2185 disease_has_basis_in_dysfunction_of MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome GARD GARD:0003568 one_to_one MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome ICD10 ICD10:Q77.8 inexact MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome MONDO MONDO:0019693 subclass MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome OMIM OMIM:156510 one_to_one MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Orphanet Orphanet:2504 one_to_one MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome UMLS UMLS:CN201864 one_to_one +MONDO:0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome http http://identifiers.org/hgnc/10472 disease_has_basis_in_dysfunction_of MONDO:0007985 metatarsus varus, type 1 MESH MESH:C563585 one_to_one MONDO:0007985 metatarsus varus, type 1 MONDO MONDO:0003847 subclass MONDO:0007985 metatarsus varus, type 1 OMIM OMIM:156520 one_to_one @@ -45324,13 +45874,14 @@ MONDO:0007986 Metatropic dysplasia MONDO MONDO:0015960,MONDO:0016761,MONDO:00182 MONDO:0007986 Metatropic dysplasia OMIM OMIM:156530 one_to_one MONDO:0007986 Metatropic dysplasia Orphanet Orphanet:2635 one_to_one MONDO:0007986 Metatropic dysplasia SCTID SCTID:22764001 one_to_one +MONDO:0007986 Metatropic dysplasia http http://identifiers.org/hgnc/18083 disease_has_basis_in_dysfunction_of MONDO:0007987 Kniest dysplasia DOID DOID:0080045 one_to_one MONDO:0007987 Kniest dysplasia GARD GARD:0006841 one_to_one MONDO:0007987 Kniest dysplasia HP HP:0000272,HP:0003510,HP:0003521 disease_has_feature MONDO:0007987 Kniest dysplasia ICD10 ICD10:Q77.7 inexact MONDO:0007987 Kniest dysplasia ICD9 ICD9:756.9 inexact MONDO:0007987 Kniest dysplasia MESH MESH:C537207 one_to_one -MONDO:0007987 Kniest dysplasia MONDO MONDO:0005516,MONDO:0015318,MONDO:0016761,MONDO:0019686 subclass +MONDO:0007987 Kniest dysplasia MONDO MONDO:0005516,MONDO:0015318,MONDO:0016761,MONDO:0019686,MONDO:0022800 subclass MONDO:0007987 Kniest dysplasia NCIT NCIT:C125594 one_to_one MONDO:0007987 Kniest dysplasia OMIM OMIM:156550 one_to_one MONDO:0007987 Kniest dysplasia Orphanet Orphanet:485 one_to_one @@ -45357,6 +45908,7 @@ MONDO:0007990 multiple benign circumferential skin creases on limbs MONDO MONDO: MONDO:0007990 multiple benign circumferential skin creases on limbs OMIM OMIM:156610 one_to_one MONDO:0007990 multiple benign circumferential skin creases on limbs Orphanet Orphanet:2505 one_to_one MONDO:0007990 multiple benign circumferential skin creases on limbs UMLS UMLS:C0473586 one_to_one +MONDO:0007990 multiple benign circumferential skin creases on limbs http http://identifiers.org/hgnc/20778 disease_has_basis_in_dysfunction_of MONDO:0007991 microcephaly-deafness-intellectual disability syndrome GARD GARD:0000230 one_to_one MONDO:0007991 microcephaly-deafness-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007991 microcephaly-deafness-intellectual disability syndrome MESH MESH:C537326 one_to_one @@ -45409,11 +45961,13 @@ MONDO:0007999 holoprosencephaly 2 MONDO MONDO:0016296 subclass MONDO:0007999 holoprosencephaly 2 NCIT NCIT:C74995 one_to_one MONDO:0007999 holoprosencephaly 2 OMIM OMIM:157170 one_to_one MONDO:0007999 holoprosencephaly 2 UMLS UMLS:C1834877 one_to_one +MONDO:0007999 holoprosencephaly 2 http http://identifiers.org/hgnc/10889 disease_has_basis_in_dysfunction_of MONDO:0008000 migraine with or without aura, susceptibility to, 1 COHD COHD:318736 one_to_one MONDO:0008000 migraine with or without aura, susceptibility to, 1 ICD9 ICD9:346.80,ICD9:346.90 inexact MONDO:0008000 migraine with or without aura, susceptibility to, 1 MONDO MONDO:0005277,MONDO:0015954,MONDO:0016517 subclass MONDO:0008000 migraine with or without aura, susceptibility to, 1 OMIM OMIM:157300 one_to_one MONDO:0008000 migraine with or without aura, susceptibility to, 1 SCTID SCTID:37796009 one_to_one +MONDO:0008000 migraine with or without aura, susceptibility to, 1 http http://identifiers.org/hgnc/11892,http://identifiers.org/hgnc/3179,http://identifiers.org/hgnc/3467 disease_has_basis_in_dysfunction_of MONDO:0008001 milia, multiple eruptive MESH MESH:C562823 one_to_one MONDO:0008001 milia, multiple eruptive MONDO MONDO:0003847 subclass MONDO:0008001 milia, multiple eruptive OMIM OMIM:157400 one_to_one @@ -45421,6 +45975,7 @@ MONDO:0008001 milia, multiple eruptive SCTID SCTID:238749001 one_to_one MONDO:0008001 milia, multiple eruptive UMLS UMLS:C0343079 one_to_one MONDO:0008002 mirror movements 1 MONDO MONDO:0016558 subclass MONDO:0008002 mirror movements 1 OMIM OMIM:157600 one_to_one +MONDO:0008002 mirror movements 1 http http://identifiers.org/hgnc/2701 disease_has_basis_in_dysfunction_of MONDO:0008003 autosomal dominant progressive external ophthalmoplegia HP HP:0000006 has_modifier MONDO:0008003 autosomal dominant progressive external ophthalmoplegia ICD10 ICD10:H49.4 inexact MONDO:0008003 autosomal dominant progressive external ophthalmoplegia MESH MESH:C563575 one_to_one @@ -45439,6 +45994,7 @@ MONDO:0008005 cardiospondylocarpofacial syndrome MONDO MONDO:0019589 subclass MONDO:0008005 cardiospondylocarpofacial syndrome OMIM OMIM:157800 one_to_one MONDO:0008005 cardiospondylocarpofacial syndrome Orphanet Orphanet:3238 one_to_one MONDO:0008005 cardiospondylocarpofacial syndrome SCTID SCTID:720612000 one_to_one +MONDO:0008005 cardiospondylocarpofacial syndrome http http://identifiers.org/hgnc/6859 disease_has_basis_in_dysfunction_of MONDO:0008006 Mobius syndrome DOID DOID:13501 one_to_one MONDO:0008006 Mobius syndrome EFO EFO:1001046 one_to_one MONDO:0008006 Mobius syndrome GARD GARD:0008549 one_to_one @@ -45483,6 +46039,7 @@ MONDO:0008009 monilethrix OMIM OMIM:158000 one_to_one MONDO:0008009 monilethrix Orphanet Orphanet:573 one_to_one MONDO:0008009 monilethrix SCTID SCTID:69488000 one_to_one MONDO:0008009 monilethrix UMLS UMLS:C0546966 one_to_one +MONDO:0008009 monilethrix http http://identifiers.org/hgnc/6458,http://identifiers.org/hgnc/6460,http://identifiers.org/hgnc/6463 disease_has_basis_in_dysfunction_of MONDO:0008010 antigen defined by monoclonal antibody Aj9 MONDO MONDO:0003847 subclass MONDO:0008010 antigen defined by monoclonal antibody Aj9 OMIM OMIM:158030 one_to_one MONDO:0008011 antigen defined by monoclonal antibody T87 MONDO MONDO:0003847 subclass @@ -45521,6 +46078,7 @@ MONDO:0008016 trismus-pseudocamptodactyly syndrome OMIM OMIM:158300 one_to_one MONDO:0008016 trismus-pseudocamptodactyly syndrome Orphanet Orphanet:3377 one_to_one MONDO:0008016 trismus-pseudocamptodactyly syndrome SCTID SCTID:8757006 one_to_one MONDO:0008016 trismus-pseudocamptodactyly syndrome UMLS UMLS:C0265226 one_to_one +MONDO:0008016 trismus-pseudocamptodactyly syndrome http http://identifiers.org/hgnc/7578 disease_has_basis_in_dysfunction_of MONDO:0008017 hereditary mucoepithelial dysplasia GARD GARD:0005427 one_to_one MONDO:0008017 hereditary mucoepithelial dysplasia ICD9 ICD9:478.79 inexact MONDO:0008017 hereditary mucoepithelial dysplasia MESH MESH:C536476 one_to_one @@ -45539,6 +46097,7 @@ MONDO:0008018 Muir-Torre syndrome OMIM OMIM:158320 one_to_one MONDO:0008018 Muir-Torre syndrome Orphanet Orphanet:587 one_to_one MONDO:0008018 Muir-Torre syndrome SCTID SCTID:403824007 one_to_one MONDO:0008018 Muir-Torre syndrome UMLS UMLS:C1321489 one_to_one +MONDO:0008018 Muir-Torre syndrome http http://identifiers.org/hgnc/7127,http://identifiers.org/hgnc/7325 disease_has_basis_in_dysfunction_of MONDO:0008019 mullerian aplasia and hyperandrogenism ICD10 ICD10:Q51.8 inexact MONDO:0008019 mullerian aplasia and hyperandrogenism MESH MESH:C567186 one_to_one MONDO:0008019 mullerian aplasia and hyperandrogenism MONDO MONDO:0015830,MONDO:0017965,MONDO:0017978 subclass @@ -45546,6 +46105,7 @@ MONDO:0008019 mullerian aplasia and hyperandrogenism NCIT NCIT:C120376 one_to_on MONDO:0008019 mullerian aplasia and hyperandrogenism OMIM OMIM:158330 one_to_one MONDO:0008019 mullerian aplasia and hyperandrogenism Orphanet Orphanet:247768 one_to_one MONDO:0008019 mullerian aplasia and hyperandrogenism UMLS UMLS:C2675014 one_to_one +MONDO:0008019 mullerian aplasia and hyperandrogenism http http://identifiers.org/hgnc/12783 disease_has_basis_in_dysfunction_of MONDO:0008020 multiple exostoses with spastic tetraparesis GARD GARD:0000291 one_to_one MONDO:0008020 multiple exostoses with spastic tetraparesis MESH MESH:C563566 one_to_one MONDO:0008020 multiple exostoses with spastic tetraparesis MONDO MONDO:0003847 subclass @@ -45554,6 +46114,7 @@ MONDO:0008020 multiple exostoses with spastic tetraparesis UMLS UMLS:C1834724 on MONDO:0008021 Cowden syndrome 1 MONDO MONDO:0016063 subclass MONDO:0008021 Cowden syndrome 1 OMIM OMIM:158350 one_to_one MONDO:0008021 Cowden syndrome 1 UMLS UMLS:CN072330 one_to_one +MONDO:0008021 Cowden syndrome 1 http http://identifiers.org/hgnc/9588 disease_has_basis_in_dysfunction_of MONDO:0008022 muscle cramps, familial MESH MESH:C563563 one_to_one MONDO:0008022 muscle cramps, familial MONDO MONDO:0003847 subclass MONDO:0008022 muscle cramps, familial OMIM OMIM:158400 one_to_one @@ -45568,16 +46129,19 @@ MONDO:0008024 neuronopathy, distal hereditary motor, type 7A MESH MESH:C563562 o MONDO:0008024 neuronopathy, distal hereditary motor, type 7A MONDO MONDO:0000075,MONDO:0015355,MONDO:0024237 subclass MONDO:0008024 neuronopathy, distal hereditary motor, type 7A OMIM OMIM:158580 one_to_one MONDO:0008024 neuronopathy, distal hereditary motor, type 7A UMLS UMLS:C1834703 one_to_one +MONDO:0008024 neuronopathy, distal hereditary motor, type 7A http http://identifiers.org/hgnc/14025 disease_has_basis_in_dysfunction_of MONDO:0008025 neuronopathy, distal hereditary motor, type 2A MESH MESH:C563561 one_to_one MONDO:0008025 neuronopathy, distal hereditary motor, type 2A MONDO MONDO:0000075,MONDO:0015352,MONDO:0024237 subclass MONDO:0008025 neuronopathy, distal hereditary motor, type 2A OMIM OMIM:158590 one_to_one MONDO:0008025 neuronopathy, distal hereditary motor, type 2A UMLS UMLS:C1834692 one_to_one +MONDO:0008025 neuronopathy, distal hereditary motor, type 2A http http://identifiers.org/hgnc/30171 disease_has_basis_in_dysfunction_of MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures ICD10 ICD10:G12.1 inexact MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MESH MESH:C563560 one_to_one MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures MONDO MONDO:0001516,MONDO:0018190,MONDO:0024237 subclass MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures OMIM OMIM:158600 one_to_one MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Orphanet Orphanet:209341 one_to_one MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures UMLS UMLS:C1834690 one_to_one +MONDO:0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures http http://identifiers.org/hgnc/2961 disease_has_basis_in_dysfunction_of MONDO:0008027 muscular atrophy, malignant neurogenic MESH MESH:C563559 one_to_one MONDO:0008027 muscular atrophy, malignant neurogenic MONDO MONDO:0003847 subclass MONDO:0008027 muscular atrophy, malignant neurogenic OMIM OMIM:158650 one_to_one @@ -45598,12 +46162,14 @@ MONDO:0008029 Bethlem myopathy SCTID SCTID:718572004 one_to_one MONDO:0008029 Bethlem myopathy UMLS UMLS:C1834674 one_to_one MONDO:0008030 facioscapulohumeral muscular dystrophy 1 GARD GARD:0009941 one_to_one MONDO:0008030 facioscapulohumeral muscular dystrophy 1 MESH MESH:C536391 one_to_one -MONDO:0008030 facioscapulohumeral muscular dystrophy 1 MONDO MONDO:0001347,MONDO:0002254,MONDO:0017099 subclass +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 MONDO MONDO:0001347,MONDO:0002254 subclass MONDO:0008030 facioscapulohumeral muscular dystrophy 1 OMIM OMIM:158900 one_to_one +MONDO:0008030 facioscapulohumeral muscular dystrophy 1 http http://identifiers.org/hgnc/3954 disease_has_basis_in_dysfunction_of MONDO:0008031 facioscapulohumeral muscular dystrophy 2 MESH MESH:C563557 one_to_one -MONDO:0008031 facioscapulohumeral muscular dystrophy 2 MONDO MONDO:0001347,MONDO:0017099 subclass +MONDO:0008031 facioscapulohumeral muscular dystrophy 2 MONDO MONDO:0001347 subclass MONDO:0008031 facioscapulohumeral muscular dystrophy 2 OMIM OMIM:158901 one_to_one MONDO:0008031 facioscapulohumeral muscular dystrophy 2 UMLS UMLS:C1834671 one_to_one +MONDO:0008031 facioscapulohumeral muscular dystrophy 2 http http://identifiers.org/hgnc/29090 disease_has_basis_in_dysfunction_of MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A DOID DOID:0110300 one_to_one MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A GARD GARD:0010229 one_to_one MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A ICD10 ICD10:G71.0 inexact @@ -45612,6 +46178,7 @@ MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A MONDO MO MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A OMIM OMIM:159000 one_to_one MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A Orphanet Orphanet:266 one_to_one MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A SCTID SCTID:719985001 one_to_one +MONDO:0008032 autosomal dominant limb-girdle muscular dystrophy type 1A http http://identifiers.org/hgnc/12399 disease_has_basis_in_dysfunction_of MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B DOID DOID:0110301 one_to_one MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B GARD GARD:0010230 one_to_one MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B ICD10 ICD10:G71.0 inexact @@ -45620,6 +46187,7 @@ MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B MONDO MO MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B OMIM OMIM:159001 one_to_one MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B Orphanet Orphanet:264 one_to_one MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B SCTID SCTID:718178006 one_to_one +MONDO:0008033 autosomal dominant limb-girdle muscular dystrophy type 1B http http://identifiers.org/hgnc/6636 disease_has_basis_in_dysfunction_of MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries MESH MESH:C563554 one_to_one MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries MONDO MONDO:0010311 subclass MONDO:0008034 muscular dystrophy, pseudohypertrophic, with Internalized capillaries OMIM OMIM:159050 one_to_one @@ -45642,6 +46210,7 @@ MONDO:0008038 ataxia-pancytopenia syndrome MONDO MONDO:0015141,MONDO:0019117 sub MONDO:0008038 ataxia-pancytopenia syndrome OMIM OMIM:159550 one_to_one MONDO:0008038 ataxia-pancytopenia syndrome Orphanet Orphanet:2585 one_to_one MONDO:0008038 ataxia-pancytopenia syndrome UMLS UMLS:C1327919 one_to_one +MONDO:0008038 ataxia-pancytopenia syndrome http http://identifiers.org/hgnc/1349 disease_has_basis_in_dysfunction_of MONDO:0008039 tropical spastic paraparesis DOID DOID:321 one_to_one MONDO:0008039 tropical spastic paraparesis EFO EFO:0007527 one_to_one MONDO:0008039 tropical spastic paraparesis GARD GARD:0008208 one_to_one @@ -45690,6 +46259,7 @@ MONDO:0008044 myoclonic dystonia 11 DOID DOID:0090034 one_to_one MONDO:0008044 myoclonic dystonia 11 ICD10 ICD10:G24.1 inexact MONDO:0008044 myoclonic dystonia 11 MONDO MONDO:0000903 subclass MONDO:0008044 myoclonic dystonia 11 OMIM OMIM:159900 one_to_one +MONDO:0008044 myoclonic dystonia 11 http http://identifiers.org/hgnc/10808,http://identifiers.org/hgnc/3023 disease_has_basis_in_dysfunction_of MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome GARD GARD:0003044,GARD:0003875 inexact MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome ICD10 ICD10:G25.3 inexact MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome ICD9 ICD9:345.10 inexact @@ -45699,6 +46269,7 @@ MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome OM MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome Orphanet Orphanet:2590 one_to_one MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome SCTID SCTID:703524005 one_to_one MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome UMLS UMLS:C1834569 one_to_one +MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome http http://identifiers.org/hgnc/735 disease_has_basis_in_dysfunction_of 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 @@ -45713,6 +46284,7 @@ MONDO:0008047 episodic ataxia type 1 OMIM OMIM:160120 one_to_one MONDO:0008047 episodic ataxia type 1 Orphanet Orphanet:37612 one_to_one MONDO:0008047 episodic ataxia type 1 SCTID SCTID:421182009 one_to_one MONDO:0008047 episodic ataxia type 1 UMLS UMLS:C1719788,UMLS:CN042654 inexact +MONDO:0008047 episodic ataxia type 1 http http://identifiers.org/hgnc/6218 disease_has_basis_in_dysfunction_of 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 @@ -45722,6 +46294,7 @@ MONDO:0008048 autosomal dominant centronuclear myopathy OMIM OMIM:160150 one_to_ MONDO:0008048 autosomal dominant centronuclear myopathy Orphanet Orphanet:169189 one_to_one MONDO:0008048 autosomal dominant centronuclear myopathy SCTID SCTID:716696006 one_to_one MONDO:0008048 autosomal dominant centronuclear myopathy UMLS UMLS:C1834558 one_to_one +MONDO:0008048 autosomal dominant centronuclear myopathy http http://identifiers.org/hgnc/26190,http://identifiers.org/hgnc/2974 disease_has_basis_in_dysfunction_of MONDO:0008049 myopathy, distal, infantile-onset MONDO MONDO:0018949 subclass MONDO:0008049 myopathy, distal, infantile-onset OMIM OMIM:160300 one_to_one MONDO:0008049 myopathy, distal, infantile-onset UMLS UMLS:C1834556,UMLS:C4011725 inexact @@ -45731,6 +46304,7 @@ MONDO:0008050 Laing early-onset distal myopathy MONDO MONDO:0011466,MONDO:001619 MONDO:0008050 Laing early-onset distal myopathy OMIM OMIM:160500 one_to_one MONDO:0008050 Laing early-onset distal myopathy Orphanet Orphanet:59135 one_to_one MONDO:0008050 Laing early-onset distal myopathy UMLS UMLS:CN074249 one_to_one +MONDO:0008050 Laing early-onset distal myopathy http http://identifiers.org/hgnc/7577 disease_has_basis_in_dysfunction_of MONDO:0008051 tubular aggregate myopathy DOID DOID:0080089 one_to_one MONDO:0008051 tubular aggregate myopathy GARD GARD:0003884 one_to_one MONDO:0008051 tubular aggregate myopathy ICD10 ICD10:G71.2 inexact @@ -45762,15 +46336,19 @@ MONDO:0008055 myotonia congenita, autosomal dominant ICD9 ICD9:359.29 inexact MONDO:0008055 myotonia congenita, autosomal dominant MONDO MONDO:0009710 subclass MONDO:0008055 myotonia congenita, autosomal dominant OMIM OMIM:160800 one_to_one MONDO:0008055 myotonia congenita, autosomal dominant SCTID SCTID:8960007 one_to_one +MONDO:0008055 myotonia congenita, autosomal dominant http http://identifiers.org/hgnc/2019 disease_has_basis_in_dysfunction_of 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:0020016,MONDO:0020169,MONDO:0020232,MONDO:0020259,MONDO:0024573 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 +MONDO:0008056 myotonic dystrophy type 1 http http://identifiers.org/hgnc/2933 disease_has_basis_in_dysfunction_of MONDO:0008057 Carney complex, type 1 MONDO MONDO:0015285 subclass MONDO:0008057 Carney complex, type 1 OMIM OMIM:160980 one_to_one +MONDO:0008057 Carney complex, type 1 http http://identifiers.org/hgnc/9388 disease_has_basis_in_dysfunction_of MONDO:0008058 cylindrical spirals myopathy DOID DOID:0080103 one_to_one MONDO:0008058 cylindrical spirals myopathy GARD GARD:0011906 one_to_one MONDO:0008058 cylindrical spirals myopathy ICD10 ICD10:G71.2 inexact @@ -45787,6 +46365,7 @@ MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome OMIM OMIM:161000 one_to_o MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome Orphanet Orphanet:69087 one_to_one MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome SCTID SCTID:239084001 one_to_one MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome UMLS UMLS:C0343111 one_to_one +MONDO:0008059 Naegeli-Franceschetti-Jadassohn syndrome http http://identifiers.org/hgnc/6416 disease_has_basis_in_dysfunction_of MONDO:0008060 nonsyndromic congenital nail disorder 1 DOID DOID:0080079 one_to_one MONDO:0008060 nonsyndromic congenital nail disorder 1 GARD GARD:0010363 one_to_one MONDO:0008060 nonsyndromic congenital nail disorder 1 ICD10 ICD10:L60.3 one_to_one @@ -45809,11 +46388,13 @@ MONDO:0008061 nail-patella syndrome OMIM OMIM:161200 one_to_one MONDO:0008061 nail-patella syndrome Orphanet Orphanet:2614 one_to_one MONDO:0008061 nail-patella syndrome SCTID SCTID:22199006 one_to_one MONDO:0008061 nail-patella syndrome UMLS UMLS:C0027341 one_to_one -MONDO:0008062 narcolepsy 1 MONDO MONDO:0016158,MONDO:0019117 subclass +MONDO:0008061 nail-patella syndrome http http://identifiers.org/hgnc/6654 disease_has_basis_in_dysfunction_of +MONDO:0008062 narcolepsy 1 MONDO MONDO:0016158,MONDO:0019117,MONDO:0021107 subclass MONDO:0008062 narcolepsy 1 NCIT NCIT:C84618 one_to_one MONDO:0008062 narcolepsy 1 OMIM OMIM:161400 one_to_one MONDO:0008062 narcolepsy 1 SCTID SCTID:46263000 one_to_one MONDO:0008062 narcolepsy 1 UMLS UMLS:C1834372 one_to_one +MONDO:0008062 narcolepsy 1 http http://identifiers.org/hgnc/4847 disease_has_basis_in_dysfunction_of MONDO:0008063 nasal alar collapse, bilateral MESH MESH:C563533 one_to_one MONDO:0008063 nasal alar collapse, bilateral MONDO MONDO:0003847 subclass MONDO:0008063 nasal alar collapse, bilateral OMIM OMIM:161470 one_to_one @@ -45842,10 +46423,11 @@ MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult OMIM OM MONDO:0008069 necrotizing encephalomyelopathy, subacute, of Leigh, adult UMLS UMLS:C1834340 one_to_one MONDO:0008070 nemaline myopathy 3 DOID DOID:0110927 one_to_one MONDO:0008070 nemaline myopathy 3 MESH MESH:C580202 one_to_one -MONDO:0008070 nemaline myopathy 3 MONDO MONDO:0015735,MONDO:0015736,MONDO:0015737,MONDO:0015738 subclass +MONDO:0008070 nemaline myopathy 3 MONDO MONDO:0015735,MONDO:0015736,MONDO:0015737,MONDO:0015738,MONDO:0018958 subclass MONDO:0008070 nemaline myopathy 3 NCIT NCIT:C129870 one_to_one MONDO:0008070 nemaline myopathy 3 OMIM OMIM:161800 one_to_one MONDO:0008070 nemaline myopathy 3 SCTID SCTID:702349003 one_to_one +MONDO:0008070 nemaline myopathy 3 http http://identifiers.org/hgnc/129 disease_has_basis_in_dysfunction_of MONDO:0008071 autosomal dominant progressive nephropathy with hypertension ICD10 ICD10:I15.1 inexact MONDO:0008071 autosomal dominant progressive nephropathy with hypertension ICD9 ICD9:583.9 inexact MONDO:0008071 autosomal dominant progressive nephropathy with hypertension MESH MESH:C562889 one_to_one @@ -45862,6 +46444,7 @@ MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 MONDO MONDO:000 MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 OMIM OMIM:162000 one_to_one MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 Orphanet Orphanet:209886 one_to_one MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 UMLS UMLS:CN239214 one_to_one +MONDO:0008073 familial juvenile hyperuricemic nephropathy type 1 http http://identifiers.org/hgnc/12559 disease_has_basis_in_dysfunction_of MONDO:0008074 nerve growth factor, alpha subunit MONDO MONDO:0003847 subclass MONDO:0008074 nerve growth factor, alpha subunit OMIM OMIM:162020 one_to_one MONDO:0008075 neurofibromatosis type 3 DOID DOID:3204 one_to_one @@ -45881,6 +46464,7 @@ 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 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 MONDO:0008078 neurofibromatosis, familial spinal MESH MESH:C563523 one_to_one MONDO:0008078 neurofibromatosis, familial spinal MONDO MONDO:0018975 subclass MONDO:0008078 neurofibromatosis, familial spinal OMIM OMIM:162210 one_to_one @@ -45902,13 +46486,14 @@ MONDO:0008082 multiple endocrine neoplasia type 2B GARD GARD:0010225 one_to_one MONDO:0008082 multiple endocrine neoplasia type 2B ICD10 ICD10:D44.8,ICD10:E31.23 inexact MONDO:0008082 multiple endocrine neoplasia type 2B ICD9 ICD9:237.4,ICD9:258.03 inexact MONDO:0008082 multiple endocrine neoplasia type 2B MESH MESH:D018814 one_to_one -MONDO:0008082 multiple endocrine neoplasia type 2B MONDO MONDO:0000426,MONDO:0002095,MONDO:0005206,MONDO:0015963,MONDO:0019003,MONDO:0019116 subclass +MONDO:0008082 multiple endocrine neoplasia type 2B MONDO MONDO:0000426,MONDO:0002095,MONDO:0005206,MONDO:0006295,MONDO:0015963,MONDO:0019003,MONDO:0019116 subclass MONDO:0008082 multiple endocrine neoplasia type 2B MedDRA MedDRA:10056420 one_to_one MONDO:0008082 multiple endocrine neoplasia type 2B NCIT NCIT:C3227 one_to_one MONDO:0008082 multiple endocrine neoplasia type 2B OMIM OMIM:162300 one_to_one MONDO:0008082 multiple endocrine neoplasia type 2B Orphanet Orphanet:247709 one_to_one MONDO:0008082 multiple endocrine neoplasia type 2B SCTID SCTID:61530001 one_to_one MONDO:0008082 multiple endocrine neoplasia type 2B UMLS UMLS:C0025269 one_to_one +MONDO:0008082 multiple endocrine neoplasia type 2B http http://identifiers.org/hgnc/9967 disease_has_basis_in_dysfunction_of MONDO:0008083 neuronal ceroid lipofuscinosis 4B DOID DOID:0110720 one_to_one MONDO:0008083 neuronal ceroid lipofuscinosis 4B GARD GARD:0001222 one_to_one MONDO:0008083 neuronal ceroid lipofuscinosis 4B ICD10 ICD10:E75.4 inexact @@ -45927,8 +46512,10 @@ MONDO:0008085 neuropathy, hereditary sensorimotor, with upper motor neuron, visu MONDO:0008085 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance OMIM OMIM:162380 one_to_one MONDO:0008085 neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance UMLS UMLS:C1834205 one_to_one MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A DOID DOID:0070152 one_to_one -MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A MONDO MONDO:0018213 subclass +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A GO GO:0004758 disease_has_basis_in_disruption_of +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A MONDO MONDO:0018213,MONDO:0044976 subclass MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A OMIM OMIM:162400 one_to_one +MONDO:0008086 neuropathy, hereditary sensory and autonomic, type 1A http http://identifiers.org/hgnc/11277 disease_has_basis_in_dysfunction_of MONDO:0008087 hereditary neuropathy with liability to pressure palsies DOID DOID:0060843 one_to_one 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 @@ -45938,6 +46525,7 @@ MONDO:0008087 hereditary neuropathy with liability to pressure palsies MedDRA Me 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 MONDO:0008087 hereditary neuropathy with liability to pressure palsies SCTID SCTID:230558006 one_to_one +MONDO:0008087 hereditary neuropathy with liability to pressure palsies http http://identifiers.org/hgnc/9118 disease_has_basis_in_dysfunction_of MONDO:0008088 neuropathy, with paraprotein 1N serum, cerebrospinal fluid and urine MESH MESH:C563516 one_to_one MONDO:0008088 neuropathy, with paraprotein 1N serum, cerebrospinal fluid and urine MONDO MONDO:0003847 subclass MONDO:0008088 neuropathy, with paraprotein 1N serum, cerebrospinal fluid and urine OMIM OMIM:162600 one_to_one @@ -45957,9 +46545,11 @@ MONDO:0008090 cyclic hematopoiesis ICD9 ICD9:288.02 one_to_one MONDO:0008090 cyclic hematopoiesis MESH MESH:C536227 one_to_one MONDO:0008090 cyclic hematopoiesis MONDO MONDO:0001475,MONDO:0015134,MONDO:0015549 subclass MONDO:0008090 cyclic hematopoiesis MedDRA MedDRA:10053176 one_to_one +MONDO:0008090 cyclic hematopoiesis NCIT NCIT:C3820 one_to_one MONDO:0008090 cyclic hematopoiesis OMIM OMIM:162800 one_to_one MONDO:0008090 cyclic hematopoiesis Orphanet Orphanet:2686 one_to_one MONDO:0008090 cyclic hematopoiesis SCTID SCTID:191347008 one_to_one +MONDO:0008090 cyclic hematopoiesis http http://identifiers.org/hgnc/3309 disease_has_basis_in_dysfunction_of MONDO:0008091 NM MONDO MONDO:0003847 subclass MONDO:0008091 NM OMIM OMIM:162820 one_to_one MONDO:0008092 hereditary neutrophilia DOID DOID:0090120 one_to_one @@ -45970,12 +46560,14 @@ MONDO:0008092 hereditary neutrophilia OMIM OMIM:162830 one_to_one MONDO:0008092 hereditary neutrophilia Orphanet Orphanet:279943 one_to_one MONDO:0008092 hereditary neutrophilia SCTID SCTID:129639005 one_to_one MONDO:0008092 hereditary neutrophilia UMLS UMLS:C0543669 one_to_one +MONDO:0008092 hereditary neutrophilia http http://identifiers.org/hgnc/2439 disease_has_basis_in_dysfunction_of MONDO:0008093 nevus, epidermal DOID DOID:0111162 one_to_one MONDO:0008093 nevus, epidermal GARD GARD:0013025 one_to_one MONDO:0008093 nevus, epidermal MESH MESH:C580062 one_to_one MONDO:0008093 nevus, epidermal MONDO MONDO:0017414 subclass MONDO:0008093 nevus, epidermal NCIT NCIT:C4088 one_to_one MONDO:0008093 nevus, epidermal OMIM OMIM:162900 one_to_one +MONDO:0008093 nevus, epidermal http http://identifiers.org/hgnc/3690,http://identifiers.org/hgnc/5173,http://identifiers.org/hgnc/7989,http://identifiers.org/hgnc/8975 disease_has_basis_in_dysfunction_of MONDO:0008094 familial multiple nevi flammei GARD GARD:0003986 one_to_one MONDO:0008094 familial multiple nevi flammei ICD10 ICD10:Q82.5 inexact MONDO:0008094 familial multiple nevi flammei MONDO MONDO:0015948,MONDO:0018728,MONDO:0019293,MONDO:0021658 subclass @@ -45985,6 +46577,7 @@ MONDO:0008094 familial multiple nevi flammei OMIM OMIM:163000 one_to_one MONDO:0008094 familial multiple nevi flammei Orphanet Orphanet:624 one_to_one MONDO:0008094 familial multiple nevi flammei SCTID SCTID:416377005 one_to_one MONDO:0008094 familial multiple nevi flammei UMLS UMLS:C0235752,UMLS:CN205384 inexact +MONDO:0008094 familial multiple nevi flammei http http://identifiers.org/hgnc/4390 disease_has_basis_in_dysfunction_of MONDO:0008095 nevus anemicus (disease) HP HP:0025105 one_to_one MONDO:0008095 nevus anemicus (disease) ICD9 ICD9:709.09 inexact MONDO:0008095 nevus anemicus (disease) MONDO MONDO:0003847,MONDO:0021658 subclass @@ -46000,6 +46593,7 @@ MONDO:0008097 linear nevus sebaceus syndrome MONDO MONDO:0006105,MONDO:0006499,M MONDO:0008097 linear nevus sebaceus syndrome NCIT NCIT:C4678 one_to_one MONDO:0008097 linear nevus sebaceus syndrome OMIM OMIM:163200 one_to_one MONDO:0008097 linear nevus sebaceus syndrome Orphanet Orphanet:2612 one_to_one +MONDO:0008097 linear nevus sebaceus syndrome http http://identifiers.org/hgnc/5173,http://identifiers.org/hgnc/6407,http://identifiers.org/hgnc/7989 disease_has_basis_in_dysfunction_of MONDO:0008098 mesomelic dwarfism, Nievergelt type GARD GARD:0003554 one_to_one MONDO:0008098 mesomelic dwarfism, Nievergelt type ICD10 ICD10:Q78.8 inexact MONDO:0008098 mesomelic dwarfism, Nievergelt type MESH MESH:C536120 one_to_one @@ -46011,9 +46605,9 @@ MONDO:0008098 mesomelic dwarfism, Nievergelt type UMLS UMLS:C0432231 one_to_one MONDO:0008099 congenital stationary night blindness autosomal dominant 2 DOID DOID:0110863 one_to_one MONDO:0008099 congenital stationary night blindness autosomal dominant 2 MESH MESH:C566869 one_to_one MONDO:0008099 congenital stationary night blindness autosomal dominant 2 MONDO MONDO:0016293 subclass -MONDO:0008099 congenital stationary night blindness autosomal dominant 2 NCBIGene NCBIGene:5158 disease_has_basis_in_dysfunction_of MONDO:0008099 congenital stationary night blindness autosomal dominant 2 OMIM OMIM:163500 one_to_one MONDO:0008099 congenital stationary night blindness autosomal dominant 2 UMLS UMLS:C1876182 one_to_one +MONDO:0008099 congenital stationary night blindness autosomal dominant 2 http http://identifiers.org/hgnc/8786 disease_has_basis_in_dysfunction_of MONDO:0008100 nipples inverted MONDO MONDO:0003847 subclass MONDO:0008100 nipples inverted OMIM OMIM:163600 one_to_one MONDO:0008101 familial supernumerary nipples ICD10 ICD10:Q83.3 one_to_one @@ -46021,17 +46615,19 @@ MONDO:0008101 familial supernumerary nipples MONDO MONDO:0003847,MONDO:0015854,M MONDO:0008101 familial supernumerary nipples OMIM OMIM:163700 one_to_one MONDO:0008101 familial supernumerary nipples Orphanet Orphanet:2456 one_to_one MONDO:0008102 sick sinus syndrome 2, autosomal dominant MESH MESH:C563513 one_to_one -MONDO:0008102 sick sinus syndrome 2, autosomal dominant MONDO MONDO:0012061 subclass +MONDO:0008102 sick sinus syndrome 2, autosomal dominant MONDO MONDO:0001823,MONDO:0012061 subclass MONDO:0008102 sick sinus syndrome 2, autosomal dominant OMIM OMIM:163800 one_to_one MONDO:0008102 sick sinus syndrome 2, autosomal dominant UMLS UMLS:C1834144 one_to_one +MONDO:0008102 sick sinus syndrome 2, autosomal dominant http http://identifiers.org/hgnc/16882 disease_has_basis_in_dysfunction_of MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities MESH MESH:C563512 one_to_one MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities MONDO MONDO:0003847 subclass MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities OMIM OMIM:163850 one_to_one MONDO:0008103 noduli Cutanei, multiple, with urinary tract abnormalities UMLS UMLS:C1834143 one_to_one MONDO:0008104 Noonan syndrome 1 DOID DOID:0060578 one_to_one -MONDO:0008104 Noonan syndrome 1 MONDO MONDO:0017415,MONDO:0018997 subclass +MONDO:0008104 Noonan syndrome 1 MONDO MONDO:0013379,MONDO:0017415 subclass MONDO:0008104 Noonan syndrome 1 NCIT NCIT:C75459 one_to_one MONDO:0008104 Noonan syndrome 1 OMIM OMIM:163950 one_to_one +MONDO:0008104 Noonan syndrome 1 http http://identifiers.org/hgnc/6840,http://identifiers.org/hgnc/9644 disease_has_basis_in_dysfunction_of MONDO:0008105 nose, anomalous shape of GARD GARD:0010040 one_to_one MONDO:0008105 nose, anomalous shape of MESH MESH:C538354 one_to_one MONDO:0008105 nose, anomalous shape of MONDO MONDO:0003847 subclass @@ -46073,6 +46669,7 @@ MONDO:0008111 oculodentodigital dysplasia MedDRA MedDRA:10063691 one_to_one MONDO:0008111 oculodentodigital dysplasia OMIM OMIM:164200 one_to_one MONDO:0008111 oculodentodigital dysplasia Orphanet Orphanet:2710 one_to_one MONDO:0008111 oculodentodigital dysplasia SCTID SCTID:38215007 one_to_one +MONDO:0008111 oculodentodigital dysplasia http http://identifiers.org/hgnc/4274 disease_has_basis_in_dysfunction_of MONDO:0008112 Goldenhar syndrome DOID DOID:2907 one_to_one MONDO:0008112 Goldenhar syndrome GARD GARD:0006540 one_to_one MONDO:0008112 Goldenhar syndrome ICD10 ICD10:Q87.0 inexact @@ -46101,12 +46698,14 @@ MONDO:0008114 obsessive-compulsive disorder MONDO MONDO:0003847,MONDO:0005618,MO 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 +MONDO:0008114 obsessive-compulsive disorder http http://identifiers.org/hgnc/1033,http://identifiers.org/hgnc/11050,http://identifiers.org/hgnc/5293 disease_has_basis_in_dysfunction_of MONDO:0008115 Feingold syndrome type 1 ICD10 ICD10:Q87.8 inexact MONDO:0008115 Feingold syndrome type 1 ICD9 ICD9:759.89 inexact MONDO:0008115 Feingold syndrome type 1 MONDO MONDO:0015267 subclass MONDO:0008115 Feingold syndrome type 1 OMIM OMIM:164280 one_to_one MONDO:0008115 Feingold syndrome type 1 Orphanet Orphanet:391641 one_to_one MONDO:0008115 Feingold syndrome type 1 SCTID SCTID:702431004 one_to_one +MONDO:0008115 Feingold syndrome type 1 http http://identifiers.org/hgnc/7559 disease_has_basis_in_dysfunction_of MONDO:0008116 oculopharyngeal muscular dystrophy DOID DOID:11719 one_to_one MONDO:0008116 oculopharyngeal muscular dystrophy GARD GARD:0007245 one_to_one MONDO:0008116 oculopharyngeal muscular dystrophy ICD10 ICD10:G71.0 inexact @@ -46118,6 +46717,7 @@ MONDO:0008116 oculopharyngeal muscular dystrophy OMIM OMIM:164300 one_to_one MONDO:0008116 oculopharyngeal muscular dystrophy Orphanet Orphanet:270 one_to_one 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 @@ -46141,6 +46741,7 @@ MONDO:0008119 spinocerebellar ataxia type 1 OMIM OMIM:164400 one_to_one MONDO:0008119 spinocerebellar ataxia type 1 Orphanet Orphanet:98755 one_to_one MONDO:0008119 spinocerebellar ataxia type 1 SCTID SCTID:715748006 one_to_one MONDO:0008119 spinocerebellar ataxia type 1 UMLS UMLS:C0752120 one_to_one +MONDO:0008119 spinocerebellar ataxia type 1 http http://identifiers.org/hgnc/10548 disease_has_basis_in_dysfunction_of MONDO:0008120 spinocerebellar ataxia type 7 DOID DOID:0050958 one_to_one MONDO:0008120 spinocerebellar ataxia type 7 GARD GARD:0004955 one_to_one MONDO:0008120 spinocerebellar ataxia type 7 ICD10 ICD10:G11.8 inexact @@ -46150,6 +46751,7 @@ MONDO:0008120 spinocerebellar ataxia type 7 OMIM OMIM:164500 one_to_one MONDO:0008120 spinocerebellar ataxia type 7 Orphanet Orphanet:94147 one_to_one MONDO:0008120 spinocerebellar ataxia type 7 SCTID SCTID:715726000 one_to_one MONDO:0008120 spinocerebellar ataxia type 7 UMLS UMLS:C0752125 one_to_one +MONDO:0008120 spinocerebellar ataxia type 7 http http://identifiers.org/hgnc/10560 disease_has_basis_in_dysfunction_of MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair MESH MESH:C563506 one_to_one MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair MONDO MONDO:0003847 subclass MONDO:0008121 onychogryposis, pedal, with keratosis plantaris and coarse hair OMIM OMIM:164680 one_to_one @@ -46214,6 +46816,7 @@ MONDO:0008133 autosomal dominant optic atrophy and cataract OMIM OMIM:165300 one MONDO:0008133 autosomal dominant optic atrophy and cataract Orphanet Orphanet:67036 one_to_one MONDO:0008133 autosomal dominant optic atrophy and cataract SCTID SCTID:719517009 one_to_one MONDO:0008133 autosomal dominant optic atrophy and cataract UMLS UMLS:C1833809 one_to_one +MONDO:0008133 autosomal dominant optic atrophy and cataract http http://identifiers.org/hgnc/8142 disease_has_basis_in_dysfunction_of MONDO:0008134 autosomal dominant optic atrophy, classic form GARD GARD:0009890 one_to_one MONDO:0008134 autosomal dominant optic atrophy, classic form ICD10 ICD10:H47.2 inexact MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO MONDO:0015960,MONDO:0016799,MONDO:0020250 subclass @@ -46221,6 +46824,7 @@ MONDO:0008134 autosomal dominant optic atrophy, classic form OMIM OMIM:165500 on MONDO:0008134 autosomal dominant optic atrophy, classic form Orphanet Orphanet:98673 one_to_one MONDO:0008134 autosomal dominant optic atrophy, classic form SCTID SCTID:717336005 one_to_one MONDO:0008134 autosomal dominant optic atrophy, classic form UMLS UMLS:CN207069 one_to_one +MONDO:0008134 autosomal dominant optic atrophy, classic form http http://identifiers.org/hgnc/8140 disease_has_basis_in_dysfunction_of MONDO:0008135 optic atrophy with negative Electroretinograms MESH MESH:C563494 one_to_one MONDO:0008135 optic atrophy with negative Electroretinograms MONDO MONDO:0003847 subclass MONDO:0008135 optic atrophy with negative Electroretinograms OMIM OMIM:165510 one_to_one @@ -46231,6 +46835,7 @@ MONDO:0008136 isolated optic nerve hypoplasia MONDO MONDO:0020249 subclass MONDO:0008136 isolated optic nerve hypoplasia OMIM OMIM:165550 one_to_one MONDO:0008136 isolated optic nerve hypoplasia Orphanet Orphanet:137902 one_to_one MONDO:0008136 isolated optic nerve hypoplasia UMLS UMLS:C1833797,UMLS:C4510723 inexact +MONDO:0008136 isolated optic nerve hypoplasia http http://identifiers.org/hgnc/8620 disease_has_basis_in_dysfunction_of 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 @@ -46276,6 +46881,7 @@ MONDO:0008143 osteoarthritis susceptibility 1 MONDO MONDO:0005178 subclass MONDO:0008143 osteoarthritis susceptibility 1 OMIM OMIM:165720 one_to_one MONDO:0008143 osteoarthritis susceptibility 1 SCTID SCTID:396275006 one_to_one MONDO:0008143 osteoarthritis susceptibility 1 UMLS UMLS:C0029408 one_to_one +MONDO:0008143 osteoarthritis susceptibility 1 http http://identifiers.org/hgnc/3959 disease_has_basis_in_dysfunction_of MONDO:0008145 Ollier disease DOID DOID:4624 one_to_one MONDO:0008145 Ollier disease GARD GARD:0007251 one_to_one MONDO:0008145 Ollier disease ICD10 ICD10:Q78.4 inexact @@ -46294,6 +46900,7 @@ MONDO:0008146 osteogenesis imperfecta type 1 NCIT NCIT:C99003 one_to_one MONDO:0008146 osteogenesis imperfecta type 1 OMIM OMIM:166200 one_to_one MONDO:0008146 osteogenesis imperfecta type 1 Orphanet Orphanet:216796 one_to_one MONDO:0008146 osteogenesis imperfecta type 1 SCTID SCTID:385482004 one_to_one +MONDO:0008146 osteogenesis imperfecta type 1 http http://identifiers.org/hgnc/2197 disease_has_basis_in_dysfunction_of MONDO:0008147 osteogenesis imperfecta type 2 DOID DOID:0110341 one_to_one MONDO:0008147 osteogenesis imperfecta type 2 GARD GARD:0010142 one_to_one MONDO:0008147 osteogenesis imperfecta type 2 ICD10 ICD10:Q78.0 inexact @@ -46303,6 +46910,7 @@ MONDO:0008147 osteogenesis imperfecta type 2 NCIT NCIT:C99001 one_to_one MONDO:0008147 osteogenesis imperfecta type 2 OMIM OMIM:166210 one_to_one MONDO:0008147 osteogenesis imperfecta type 2 Orphanet Orphanet:216804 one_to_one MONDO:0008147 osteogenesis imperfecta type 2 SCTID SCTID:86470003 one_to_one +MONDO:0008147 osteogenesis imperfecta type 2 http http://identifiers.org/hgnc/2197,http://identifiers.org/hgnc/2198 disease_has_basis_in_dysfunction_of MONDO:0008148 osteogenesis imperfecta type 4 DOID DOID:0110340 one_to_one MONDO:0008148 osteogenesis imperfecta type 4 GARD GARD:0008696 one_to_one MONDO:0008148 osteogenesis imperfecta type 4 ICD10 ICD10:Q78.0 inexact @@ -46313,6 +46921,7 @@ MONDO:0008148 osteogenesis imperfecta type 4 OMIM OMIM:166220 one_to_one MONDO:0008148 osteogenesis imperfecta type 4 Orphanet Orphanet:216820 one_to_one MONDO:0008148 osteogenesis imperfecta type 4 SCTID SCTID:205497004 one_to_one MONDO:0008148 osteogenesis imperfecta type 4 UMLS UMLS:C0268363 one_to_one +MONDO:0008148 osteogenesis imperfecta type 4 http http://identifiers.org/hgnc/2197,http://identifiers.org/hgnc/2198 disease_has_basis_in_dysfunction_of MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures DOID DOID:0110335 one_to_one MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures ICD10 ICD10:Q78.0 inexact MONDO:0008149 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures MESH MESH:C563487 one_to_one @@ -46326,6 +46935,7 @@ MONDO:0008150 osteoglophonic dwarfism MONDO MONDO:0019708 subclass MONDO:0008150 osteoglophonic dwarfism OMIM OMIM:166250 one_to_one MONDO:0008150 osteoglophonic dwarfism Orphanet Orphanet:2645 one_to_one MONDO:0008150 osteoglophonic dwarfism SCTID SCTID:254144002 one_to_one +MONDO:0008150 osteoglophonic dwarfism http http://identifiers.org/hgnc/3688 disease_has_basis_in_dysfunction_of MONDO:0008151 Gnathodiaphyseal dysplasia GARD GARD:0008698 one_to_one MONDO:0008151 Gnathodiaphyseal dysplasia MESH MESH:C536039 one_to_one MONDO:0008151 Gnathodiaphyseal dysplasia MONDO MONDO:0019704,MONDO:0019708 subclass @@ -46333,12 +46943,14 @@ MONDO:0008151 Gnathodiaphyseal dysplasia OMIM OMIM:166260 one_to_one MONDO:0008151 Gnathodiaphyseal dysplasia Orphanet Orphanet:53697 one_to_one MONDO:0008151 Gnathodiaphyseal dysplasia SCTID SCTID:715568002 one_to_one MONDO:0008151 Gnathodiaphyseal dysplasia UMLS UMLS:C1833736 one_to_one +MONDO:0008151 Gnathodiaphyseal dysplasia http http://identifiers.org/hgnc/27337 disease_has_basis_in_dysfunction_of MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy GARD GARD:0003818,GARD:0013042 inexact MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy MESH MESH:C567171 one_to_one MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy MONDO MONDO:0019707,MONDO:0019721 subclass MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy OMIM OMIM:166300 one_to_one MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy Orphanet Orphanet:2774 one_to_one MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy UMLS UMLS:C2674705 one_to_one +MONDO:0008152 multicentric carpo-tarsal osteolysis with or without nephropathy http http://identifiers.org/hgnc/6408 disease_has_basis_in_dysfunction_of MONDO:0008153 progressive osseous heteroplasia GARD GARD:0000109 one_to_one MONDO:0008153 progressive osseous heteroplasia ICD10 ICD10:M61.5 one_to_one MONDO:0008153 progressive osseous heteroplasia MESH MESH:C562735 one_to_one @@ -46347,6 +46959,7 @@ MONDO:0008153 progressive osseous heteroplasia MedDRA MedDRA:10048902 one_to_one MONDO:0008153 progressive osseous heteroplasia OMIM OMIM:166350 one_to_one MONDO:0008153 progressive osseous heteroplasia Orphanet Orphanet:2762 one_to_one MONDO:0008153 progressive osseous heteroplasia UMLS UMLS:C0334041 one_to_one +MONDO:0008153 progressive osseous heteroplasia http http://identifiers.org/hgnc/4392 disease_has_basis_in_dysfunction_of MONDO:0008154 osteomas of mandible MESH MESH:C563485 one_to_one MONDO:0008154 osteomas of mandible MONDO MONDO:0005166,MONDO:0017371,MONDO:0020033,MONDO:0021522 subclass MONDO:0008154 osteomas of mandible OMIM OMIM:166400 one_to_one @@ -46367,12 +46980,14 @@ MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO MONDO:0015960,MONDO:00171 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 +MONDO:0008156 autosomal dominant osteopetrosis 2 http http://identifiers.org/hgnc/2025 disease_has_basis_in_dysfunction_of MONDO:0008157 Buschke-Ollendorff syndrome GARD GARD:0001044 one_to_one MONDO:0008157 Buschke-Ollendorff syndrome ICD10 ICD10:Q78.8 inexact MONDO:0008157 Buschke-Ollendorff syndrome MESH MESH:C537415 one_to_one MONDO:0008157 Buschke-Ollendorff syndrome MONDO MONDO:0015958,MONDO:0015960,MONDO:0017198,MONDO:0019292,MONDO:0021106,MONDO:0042973 subclass MONDO:0008157 Buschke-Ollendorff syndrome OMIM OMIM:166700 one_to_one MONDO:0008157 Buschke-Ollendorff syndrome Orphanet Orphanet:1306 one_to_one +MONDO:0008157 Buschke-Ollendorff syndrome http http://identifiers.org/hgnc/28887 disease_has_basis_in_dysfunction_of MONDO:0008158 dacryocystitis-osteopoikilosis syndrome GARD GARD:0000351 one_to_one MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MESH MESH:C536061 one_to_one MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO MONDO:0019703 subclass @@ -46416,6 +47031,7 @@ MONDO:0008165 southeast Asian ovalocytosis OMIM OMIM:166900 one_to_one MONDO:0008165 southeast Asian ovalocytosis Orphanet Orphanet:98868 one_to_one MONDO:0008165 southeast Asian ovalocytosis SCTID SCTID:191169008 one_to_one MONDO:0008165 southeast Asian ovalocytosis UMLS UMLS:C1833690,UMLS:C1862323 inexact +MONDO:0008165 southeast Asian ovalocytosis http http://identifiers.org/hgnc/11027 disease_has_basis_in_dysfunction_of MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis MESH MESH:C563479 one_to_one MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis MONDO MONDO:0003847 subclass MONDO:0008166 ovalocytosis, hereditary hemolytic, with defective erythropoiesis OMIM OMIM:166910 one_to_one @@ -46454,6 +47070,7 @@ MONDO:0008170 ovarian cancer OMIM OMIM:167000 one_to_one MONDO:0008170 ovarian cancer Orphanet Orphanet:213500 one_to_one MONDO:0008170 ovarian cancer SCTID SCTID:363443007 one_to_one MONDO:0008170 ovarian cancer UBERON UBERON:0000992 disease_has_location +MONDO:0008170 ovarian cancer http http://identifiers.org/hgnc/1748,http://identifiers.org/hgnc/2514,http://identifiers.org/hgnc/391,http://identifiers.org/hgnc/8143,http://identifiers.org/hgnc/8607,http://identifiers.org/hgnc/8975 disease_has_basis_in_dysfunction_of MONDO:0008171 nephrolithiasis COHD COHD:4148260 one_to_one MONDO:0008171 nephrolithiasis DOID DOID:585 one_to_one MONDO:0008171 nephrolithiasis EFO EFO:0004253 one_to_one @@ -46465,14 +47082,17 @@ MONDO:0008171 nephrolithiasis NCIT NCIT:C114667 one_to_one MONDO:0008171 nephrolithiasis OMIM OMIM:167030 one_to_one MONDO:0008171 nephrolithiasis SCTID SCTID:266556005 one_to_one MONDO:0008171 nephrolithiasis UMLS UMLS:C0156257,UMLS:C0392525,UMLS:C1833683 inexact +MONDO:0008171 nephrolithiasis http http://identifiers.org/hgnc/10993 disease_has_basis_in_dysfunction_of MONDO:0008172 PHOAD MONDO MONDO:0009799 subclass MONDO:0008172 PHOAD OMIM OMIM:167100 one_to_one MONDO:0008172 PHOAD UMLS UMLS:C2674695 one_to_one MONDO:0008173 pachyonychia congenita 1 MONDO MONDO:0016471 subclass MONDO:0008173 pachyonychia congenita 1 OMIM OMIM:167200 one_to_one MONDO:0008173 pachyonychia congenita 1 SCTID SCTID:39427000 one_to_one +MONDO:0008173 pachyonychia congenita 1 http http://identifiers.org/hgnc/6423 disease_has_basis_in_dysfunction_of MONDO:0008174 pachyonychia congenita 2 MONDO MONDO:0016471 subclass MONDO:0008174 pachyonychia congenita 2 OMIM OMIM:167210 one_to_one +MONDO:0008174 pachyonychia congenita 2 http http://identifiers.org/hgnc/6427 disease_has_basis_in_dysfunction_of MONDO:0008175 Pacman dysplasia GARD GARD:0004189 one_to_one MONDO:0008175 Pacman dysplasia ICD10 ICD10:Q77.8 inexact MONDO:0008175 Pacman dysplasia MESH MESH:C538095 one_to_one @@ -46485,6 +47105,7 @@ MONDO:0008176 Paget disease of bone 3 GARD GARD:0004191 one_to_one MONDO:0008176 Paget disease of bone 3 MONDO MONDO:0003847,MONDO:0005382 subclass MONDO:0008176 Paget disease of bone 3 OMIM OMIM:167250 one_to_one MONDO:0008176 Paget disease of bone 3 UMLS UMLS:C4085252 one_to_one +MONDO:0008176 Paget disease of bone 3 http http://identifiers.org/hgnc/11280 disease_has_basis_in_dysfunction_of MONDO:0008177 extramammary Paget disease EFO EFO:1000249 one_to_one MONDO:0008177 extramammary Paget disease GARD GARD:0004192 one_to_one MONDO:0008177 extramammary Paget disease ICD10 ICD10:C44.5 one_to_one @@ -46494,6 +47115,7 @@ MONDO:0008177 extramammary Paget disease MONDO MONDO:0001416,MONDO:0002655,MONDO MONDO:0008177 extramammary Paget disease MedDRA MedDRA:10033366,MedDRA:10068223 inexact MONDO:0008177 extramammary Paget disease NCIT NCIT:C3302 one_to_one MONDO:0008177 extramammary Paget disease OMIM OMIM:167300 one_to_one +MONDO:0008177 extramammary Paget disease ONCOTREE ONCOTREE:EMPD one_to_one MONDO:0008177 extramammary Paget disease Orphanet Orphanet:2800 one_to_one MONDO:0008177 extramammary Paget disease UMLS UMLS:C0030186 one_to_one MONDO:0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 MESH MESH:C563476 one_to_one @@ -46508,6 +47130,7 @@ MONDO:0008179 paroxysmal extreme pain disorder OMIM OMIM:167400 one_to_one MONDO:0008179 paroxysmal extreme pain disorder Orphanet Orphanet:46348 one_to_one MONDO:0008179 paroxysmal extreme pain disorder SCTID SCTID:699190008 one_to_one MONDO:0008179 paroxysmal extreme pain disorder UMLS UMLS:C1833661 one_to_one +MONDO:0008179 paroxysmal extreme pain disorder http http://identifiers.org/hgnc/10597 disease_has_basis_in_dysfunction_of MONDO:0008180 congenital velopharyngeal incompetence GARD GARD:0005470 one_to_one MONDO:0008180 congenital velopharyngeal incompetence ICD10 ICD10:J39.2 one_to_one MONDO:0008180 congenital velopharyngeal incompetence MESH MESH:D014681 one_to_one @@ -46550,12 +47173,14 @@ MONDO:0008185 hereditary chronic pancreatitis NCIT NCIT:C95436 one_to_one MONDO:0008185 hereditary chronic pancreatitis OMIM OMIM:167800 one_to_one MONDO:0008185 hereditary chronic pancreatitis Orphanet Orphanet:676 one_to_one MONDO:0008185 hereditary chronic pancreatitis SCTID SCTID:68072000 one_to_one +MONDO:0008185 hereditary chronic pancreatitis http http://identifiers.org/hgnc/11244,http://identifiers.org/hgnc/1884,http://identifiers.org/hgnc/2523,http://identifiers.org/hgnc/9475,http://identifiers.org/hgnc/9483 disease_has_basis_in_dysfunction_of MONDO:0008186 pancytopenia and occlusive vascular disease MESH MESH:C566836 one_to_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 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 MONDO:0008188 papillomatosis, confluent and reticulated MONDO MONDO:0003847 subclass MONDO:0008188 papillomatosis, confluent and reticulated OMIM OMIM:167900 one_to_one @@ -46570,10 +47195,13 @@ MONDO:0008189 papillomatosis, florid, of nipple SCTID SCTID:237467005 one_to_one MONDO:0008189 papillomatosis, florid, of nipple UMLS UMLS:C1868647 one_to_one MONDO:0008190 human papillomavirus type 18 integration site 1 MONDO MONDO:0003847 subclass MONDO:0008190 human papillomavirus type 18 integration site 1 OMIM OMIM:167959 one_to_one +MONDO:0008190 human papillomavirus type 18 integration site 1 http http://identifiers.org/hgnc/5166 disease_has_basis_in_dysfunction_of MONDO:0008191 human papillomavirus type 18 integration site 2 MONDO MONDO:0003847 subclass MONDO:0008191 human papillomavirus type 18 integration site 2 OMIM OMIM:167960 one_to_one +MONDO:0008191 human papillomavirus type 18 integration site 2 http http://identifiers.org/hgnc/5167 disease_has_basis_in_dysfunction_of MONDO:0008192 paragangliomas 1 MONDO MONDO:0000448,MONDO:0017366,MONDO:0018557,MONDO:0043218 subclass MONDO:0008192 paragangliomas 1 OMIM OMIM:168000 one_to_one +MONDO:0008192 paragangliomas 1 http http://identifiers.org/hgnc/10683 disease_has_basis_in_dysfunction_of MONDO:0008193 paralysis agitans, juvenile, of Hunt GARD GARD:0010359 one_to_one MONDO:0008193 paralysis agitans, juvenile, of Hunt ICD9 ICD9:333.0 inexact MONDO:0008193 paralysis agitans, juvenile, of Hunt MESH MESH:C562469 one_to_one @@ -46590,6 +47218,7 @@ MONDO:0008195 paramyotonia congenita of von Eulenburg NCIT NCIT:C122790 one_to_o MONDO:0008195 paramyotonia congenita of von Eulenburg OMIM OMIM:168300 one_to_one MONDO:0008195 paramyotonia congenita of von Eulenburg Orphanet Orphanet:684 one_to_one MONDO:0008195 paramyotonia congenita of von Eulenburg SCTID SCTID:41574007 one_to_one +MONDO:0008195 paramyotonia congenita of von Eulenburg http http://identifiers.org/hgnc/10591 disease_has_basis_in_dysfunction_of MONDO:0008196 Parastremmatic dwarfism GARD GARD:0004222 one_to_one MONDO:0008196 Parastremmatic dwarfism ICD10 ICD10:Q87.1 inexact MONDO:0008196 Parastremmatic dwarfism MESH MESH:C537172 one_to_one @@ -46597,21 +47226,26 @@ MONDO:0008196 Parastremmatic dwarfism MONDO MONDO:0015960,MONDO:0018240,MONDO:00 MONDO:0008196 Parastremmatic dwarfism OMIM OMIM:168400 one_to_one MONDO:0008196 Parastremmatic dwarfism Orphanet Orphanet:2646 one_to_one MONDO:0008196 Parastremmatic dwarfism SCTID SCTID:722210007 one_to_one +MONDO:0008196 Parastremmatic dwarfism http http://identifiers.org/hgnc/18083 disease_has_basis_in_dysfunction_of MONDO:0008197 parietal foramina 1 MONDO MONDO:0018953 subclass MONDO:0008197 parietal foramina 1 OMIM OMIM:168500 one_to_one +MONDO:0008197 parietal foramina 1 http http://identifiers.org/hgnc/7392 disease_has_basis_in_dysfunction_of MONDO:0008198 parietal foramina with cleidocranial dysplasia ICD10 ICD10:Q74.0 inexact MONDO:0008198 parietal foramina with cleidocranial dysplasia MESH MESH:C566825 one_to_one MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO MONDO:0019709,MONDO:0020018 subclass MONDO:0008198 parietal foramina with cleidocranial dysplasia OMIM OMIM:168550 one_to_one MONDO:0008198 parietal foramina with cleidocranial dysplasia Orphanet Orphanet:251290 one_to_one MONDO:0008198 parietal foramina with cleidocranial dysplasia UMLS UMLS:C1868597 one_to_one +MONDO:0008198 parietal foramina with cleidocranial dysplasia http http://identifiers.org/hgnc/7392 disease_has_basis_in_dysfunction_of MONDO:0008199 late-onset Parkinson disease MONDO MONDO:0005180 subclass MONDO:0008199 late-onset Parkinson disease OMIM OMIM:168600 one_to_one MONDO:0008199 late-onset Parkinson disease UMLS UMLS:C3160718 one_to_one +MONDO:0008199 late-onset Parkinson disease http http://identifiers.org/hgnc/10555,http://identifiers.org/hgnc/11139,http://identifiers.org/hgnc/11588,http://identifiers.org/hgnc/251,http://identifiers.org/hgnc/4177,http://identifiers.org/hgnc/4336,http://identifiers.org/hgnc/6893,http://identifiers.org/hgnc/7981 disease_has_basis_in_dysfunction_of MONDO:0008200 autosomal dominant Parkinson disease 1 DOID DOID:0060367 one_to_one MONDO:0008200 autosomal dominant Parkinson disease 1 MESH MESH:C566823 one_to_one MONDO:0008200 autosomal dominant Parkinson disease 1 MONDO MONDO:0018466 subclass MONDO:0008200 autosomal dominant Parkinson disease 1 OMIM OMIM:168601 one_to_one +MONDO:0008200 autosomal dominant Parkinson disease 1 http http://identifiers.org/hgnc/11138 disease_has_basis_in_dysfunction_of MONDO:0008201 Perry syndrome DOID DOID:0060486 one_to_one MONDO:0008201 Perry syndrome GARD GARD:0010453 one_to_one MONDO:0008201 Perry syndrome ICD9 ICD9:348.89 inexact @@ -46621,6 +47255,7 @@ MONDO:0008201 Perry syndrome OMIM OMIM:168605 one_to_one MONDO:0008201 Perry syndrome Orphanet Orphanet:178509 one_to_one MONDO:0008201 Perry syndrome SCTID SCTID:699184009 one_to_one MONDO:0008201 Perry syndrome UMLS UMLS:C1868594 one_to_one +MONDO:0008201 Perry syndrome http http://identifiers.org/hgnc/2711 disease_has_basis_in_dysfunction_of MONDO:0008202 Parotidomegaly, hereditary bilateral MESH MESH:C566821 one_to_one MONDO:0008202 Parotidomegaly, hereditary bilateral MONDO MONDO:0003847 subclass MONDO:0008202 Parotidomegaly, hereditary bilateral OMIM OMIM:168800 one_to_one @@ -46646,7 +47281,7 @@ MONDO:0008207 chondromalacia patellae DOID DOID:13357 one_to_one MONDO:0008207 chondromalacia patellae ICD10 ICD10:M22.4 one_to_one MONDO:0008207 chondromalacia patellae ICD9 ICD9:717.7 one_to_one MONDO:0008207 chondromalacia patellae MESH MESH:D046789 one_to_one -MONDO:0008207 chondromalacia patellae MONDO MONDO:0002342,MONDO:0019712,MONDO:0024505 subclass +MONDO:0008207 chondromalacia patellae MONDO MONDO:0002342,MONDO:0019712,MONDO:0044967 subclass MONDO:0008207 chondromalacia patellae OMIM OMIM:168900 one_to_one MONDO:0008207 chondromalacia patellae Orphanet Orphanet:1428 one_to_one MONDO:0008207 chondromalacia patellae SCTID SCTID:36071006 one_to_one @@ -46666,11 +47301,12 @@ MONDO:0008209 Char syndrome OMIM OMIM:169100 one_to_one MONDO:0008209 Char syndrome Orphanet Orphanet:46627 one_to_one MONDO:0008209 Char syndrome SCTID SCTID:703534001 one_to_one MONDO:0008209 Char syndrome UMLS UMLS:C1868570 one_to_one +MONDO:0008209 Char syndrome http http://identifiers.org/hgnc/11743 disease_has_basis_in_dysfunction_of MONDO:0008210 patterned macular dystrophy 1 DOID DOID:0060866 one_to_one MONDO:0008210 patterned macular dystrophy 1 GARD GARD:0009821 one_to_one MONDO:0008210 patterned macular dystrophy 1 MONDO MONDO:0020381 subclass -MONDO:0008210 patterned macular dystrophy 1 NCBIGene NCBIGene:5961 disease_has_basis_in_dysfunction_of MONDO:0008210 patterned macular dystrophy 1 OMIM OMIM:169150 one_to_one +MONDO:0008210 patterned macular dystrophy 1 http http://identifiers.org/hgnc/9942 disease_has_basis_in_dysfunction_of MONDO:0008211 pseudoleprechaunism syndrome, Patterson type GARD GARD:0004259 one_to_one MONDO:0008211 pseudoleprechaunism syndrome, Patterson type ICD10 ICD10:E34.8 inexact MONDO:0008211 pseudoleprechaunism syndrome, Patterson type MESH MESH:C536310 one_to_one @@ -46699,6 +47335,7 @@ MONDO:0008214 Pelger-Huet anomaly NCIT NCIT:C85002 one_to_one MONDO:0008214 Pelger-Huet anomaly OMIM OMIM:169400 one_to_one MONDO:0008214 Pelger-Huet anomaly SCTID SCTID:85559002 one_to_one MONDO:0008214 Pelger-Huet anomaly UMLS UMLS:C0030779 one_to_one +MONDO:0008214 Pelger-Huet anomaly http http://identifiers.org/hgnc/6518 disease_has_basis_in_dysfunction_of MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy DOID DOID:0060785 one_to_one 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 @@ -46707,6 +47344,7 @@ MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO 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 +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy http http://identifiers.org/hgnc/6637 disease_has_basis_in_dysfunction_of MONDO:0008216 pelvic lipomatosis with crossed renal ectopia MESH MESH:C566812 one_to_one MONDO:0008216 pelvic lipomatosis with crossed renal ectopia MONDO MONDO:0003847 subclass MONDO:0008216 pelvic lipomatosis with crossed renal ectopia OMIM OMIM:169545 one_to_one @@ -46728,6 +47366,7 @@ MONDO:0008218 Hailey-Hailey disease OMIM OMIM:169600 one_to_one MONDO:0008218 Hailey-Hailey disease Orphanet Orphanet:2841 one_to_one MONDO:0008218 Hailey-Hailey disease SCTID SCTID:79468000 one_to_one MONDO:0008218 Hailey-Hailey disease UMLS UMLS:C0085106 one_to_one +MONDO:0008218 Hailey-Hailey disease http http://identifiers.org/hgnc/13211 disease_has_basis_in_dysfunction_of MONDO:0008219 pemphigus vulgaris DOID DOID:0060851 one_to_one MONDO:0008219 pemphigus vulgaris EFO EFO:0004719 one_to_one MONDO:0008219 pemphigus vulgaris GARD GARD:0004270,GARD:0007355 inexact @@ -46741,6 +47380,7 @@ MONDO:0008219 pemphigus vulgaris SCTID SCTID:49420001 one_to_one MONDO:0008219 pemphigus vulgaris UMLS UMLS:C0030809 one_to_one MONDO:0008220 pepsinogen 3, group 1 MONDO MONDO:0003847 subclass MONDO:0008220 pepsinogen 3, group 1 OMIM OMIM:169710 one_to_one +MONDO:0008220 pepsinogen 3, group 1 http http://identifiers.org/hgnc/8885 disease_has_basis_in_dysfunction_of MONDO:0008221 prolidase deficiency GARD GARD:0007473 one_to_one MONDO:0008221 prolidase deficiency ICD10 ICD10:E72.8 inexact MONDO:0008221 prolidase deficiency MESH MESH:D056732 one_to_one @@ -46750,6 +47390,7 @@ MONDO:0008221 prolidase deficiency OMIM OMIM:170100 one_to_one MONDO:0008221 prolidase deficiency Orphanet Orphanet:742 one_to_one MONDO:0008221 prolidase deficiency SCTID SCTID:410055005 one_to_one MONDO:0008221 prolidase deficiency UMLS UMLS:C0268532 one_to_one +MONDO:0008221 prolidase deficiency http http://identifiers.org/hgnc/8840 disease_has_basis_in_dysfunction_of MONDO:0008222 Andersen-Tawil syndrome DOID DOID:0050434 one_to_one MONDO:0008222 Andersen-Tawil syndrome GARD GARD:0009453 one_to_one MONDO:0008222 Andersen-Tawil syndrome HP HP:0000347,HP:0004308 disease_has_feature @@ -46762,6 +47403,7 @@ MONDO:0008222 Andersen-Tawil syndrome OMIM OMIM:170390 one_to_one MONDO:0008222 Andersen-Tawil syndrome Orphanet Orphanet:37553 one_to_one MONDO:0008222 Andersen-Tawil syndrome SCTID SCTID:422348008 one_to_one MONDO:0008222 Andersen-Tawil syndrome UMLS UMLS:C1563715 one_to_one +MONDO:0008222 Andersen-Tawil syndrome http http://identifiers.org/hgnc/6263 disease_has_basis_in_dysfunction_of MONDO:0008223 hypokalemic periodic paralysis DOID DOID:14452 one_to_one MONDO:0008223 hypokalemic periodic paralysis GARD GARD:0006729 one_to_one MONDO:0008223 hypokalemic periodic paralysis ICD10 ICD10:G72.3 inexact @@ -46771,6 +47413,7 @@ MONDO:0008223 hypokalemic periodic paralysis NCIT NCIT:C84775 one_to_one MONDO:0008223 hypokalemic periodic paralysis Orphanet Orphanet:681 one_to_one MONDO:0008223 hypokalemic periodic paralysis SCTID SCTID:82732003 one_to_one MONDO:0008223 hypokalemic periodic paralysis UMLS UMLS:C0238358 one_to_one +MONDO:0008223 hypokalemic periodic paralysis http http://identifiers.org/hgnc/1397 disease_has_basis_in_dysfunction_of MONDO:0008224 hyperkalemic periodic paralysis DOID DOID:14451 one_to_one MONDO:0008224 hyperkalemic periodic paralysis GARD GARD:0000195 one_to_one MONDO:0008224 hyperkalemic periodic paralysis ICD10 ICD10:G72.3 inexact @@ -46795,6 +47438,7 @@ MONDO:0008226 aggressive periodontitis MESH MESH:D010520 one_to_one MONDO:0008226 aggressive periodontitis MONDO MONDO:0003847,MONDO:0005593 subclass MONDO:0008226 aggressive periodontitis OMIM OMIM:170650 one_to_one MONDO:0008226 aggressive periodontitis UMLS UMLS:C0031106 one_to_one +MONDO:0008226 aggressive periodontitis http http://identifiers.org/hgnc/2528 disease_has_basis_in_dysfunction_of MONDO:0008227 peripheral dysostosis GARD GARD:0002015 one_to_one MONDO:0008227 peripheral dysostosis ICD10 ICD10:Q74.8 inexact MONDO:0008227 peripheral dysostosis MONDO MONDO:0019695 subclass @@ -46834,12 +47478,14 @@ MONDO:0008232 phagocytosis, plasma-related defect 1N UMLS UMLS:C1868402 one_to_o MONDO:0008233 phaeochromocytoma DOID DOID:0050771 one_to_one MONDO:0008233 phaeochromocytoma MONDO MONDO:0002513,MONDO:0017366,MONDO:0021511,MONDO:0024286 subclass MONDO:0008233 phaeochromocytoma OMIM OMIM:171300 one_to_one +MONDO:0008233 phaeochromocytoma ONCOTREE ONCOTREE:PHC one_to_one +MONDO:0008233 phaeochromocytoma http http://identifiers.org/hgnc/10681,http://identifiers.org/hgnc/10683,http://identifiers.org/hgnc/12687,http://identifiers.org/hgnc/16636,http://identifiers.org/hgnc/26038,http://identifiers.org/hgnc/4232,http://identifiers.org/hgnc/6913,http://identifiers.org/hgnc/9967 disease_has_basis_in_dysfunction_of MONDO:0008234 multiple endocrine neoplasia type 2A DOID DOID:0050430 one_to_one MONDO:0008234 multiple endocrine neoplasia type 2A GARD GARD:0004881 one_to_one MONDO:0008234 multiple endocrine neoplasia type 2A ICD10 ICD10:D44.8,ICD10:E31.22 inexact MONDO:0008234 multiple endocrine neoplasia type 2A ICD9 ICD9:258.02 inexact MONDO:0008234 multiple endocrine neoplasia type 2A MESH MESH:D018813 one_to_one -MONDO:0008234 multiple endocrine neoplasia type 2A MONDO MONDO:0000426,MONDO:0002095,MONDO:0005206,MONDO:0015963,MONDO:0019003,MONDO:0019116 subclass +MONDO:0008234 multiple endocrine neoplasia type 2A MONDO MONDO:0008082 subclass MONDO:0008234 multiple endocrine neoplasia type 2A NCIT NCIT:C3226 one_to_one MONDO:0008234 multiple endocrine neoplasia type 2A OMIM OMIM:171400 one_to_one MONDO:0008234 multiple endocrine neoplasia type 2A Orphanet Orphanet:247698 one_to_one @@ -46890,6 +47536,7 @@ MONDO:0008243 Pick disease OMIM OMIM:172700 one_to_one MONDO:0008243 Pick disease SCTID SCTID:13092008 one_to_one MONDO:0008243 Pick disease UBERON UBERON:0001870,UBERON:0001871 disease_has_location MONDO:0008243 Pick disease UMLS UMLS:C0236642 one_to_one +MONDO:0008243 Pick disease http http://identifiers.org/hgnc/6893,http://identifiers.org/hgnc/9508 disease_has_basis_in_dysfunction_of MONDO:0008244 piebaldism DOID DOID:3263 one_to_one MONDO:0008244 piebaldism GARD GARD:0004344 one_to_one MONDO:0008244 piebaldism ICD10 ICD10:E70.3,ICD10:E70.39 inexact @@ -46902,6 +47549,7 @@ MONDO:0008244 piebaldism OMIM OMIM:172800 one_to_one MONDO:0008244 piebaldism Orphanet Orphanet:2884 one_to_one MONDO:0008244 piebaldism SCTID SCTID:6479008 one_to_one MONDO:0008244 piebaldism UMLS UMLS:C0080024 one_to_one +MONDO:0008244 piebaldism http http://identifiers.org/hgnc/11094,http://identifiers.org/hgnc/6342 disease_has_basis_in_dysfunction_of MONDO:0008245 piebald trait-neurologic defects syndrome GARD GARD:0005133 one_to_one MONDO:0008245 piebald trait-neurologic defects syndrome MESH MESH:C536955 one_to_one MONDO:0008245 piebald trait-neurologic defects syndrome MONDO MONDO:0019290 subclass @@ -46914,6 +47562,7 @@ MONDO:0008246 pigmented paravenous retinochoroidal atrophy MONDO MONDO:0019118 s MONDO:0008246 pigmented paravenous retinochoroidal atrophy OMIM OMIM:172870 one_to_one MONDO:0008246 pigmented paravenous retinochoroidal atrophy Orphanet Orphanet:251295 one_to_one MONDO:0008246 pigmented paravenous retinochoroidal atrophy UMLS UMLS:C1868310 one_to_one +MONDO:0008246 pigmented paravenous retinochoroidal atrophy http http://identifiers.org/hgnc/2343 disease_has_basis_in_dysfunction_of MONDO:0008247 robin sequence-oligodactyly syndrome GARD GARD:0004729 one_to_one MONDO:0008247 robin sequence-oligodactyly syndrome HP HP:0000201 disease_has_feature MONDO:0008247 robin sequence-oligodactyly syndrome ICD10 ICD10:Q87.0 inexact @@ -46942,6 +47591,7 @@ MONDO:0008250 isolated growth hormone deficiency type II OMIM OMIM:173100 one_to MONDO:0008250 isolated growth hormone deficiency type II Orphanet Orphanet:231679 one_to_one MONDO:0008250 isolated growth hormone deficiency type II SCTID SCTID:237687003 one_to_one MONDO:0008250 isolated growth hormone deficiency type II UMLS UMLS:C0271567 one_to_one +MONDO:0008250 isolated growth hormone deficiency type II http http://identifiers.org/hgnc/4261 disease_has_basis_in_dysfunction_of MONDO:0008251 pityriasis rubra pilaris COHD COHD:136774 one_to_one MONDO:0008251 pityriasis rubra pilaris DOID DOID:9212 one_to_one MONDO:0008251 pityriasis rubra pilaris GARD GARD:0007401 one_to_one @@ -46956,6 +47606,7 @@ MONDO:0008251 pityriasis rubra pilaris OMIM OMIM:173200 one_to_one MONDO:0008251 pityriasis rubra pilaris Orphanet Orphanet:2897 one_to_one MONDO:0008251 pityriasis rubra pilaris SCTID SCTID:3755001 one_to_one MONDO:0008251 pityriasis rubra pilaris UMLS UMLS:C0032027 one_to_one +MONDO:0008251 pityriasis rubra pilaris http http://identifiers.org/hgnc/16446 disease_has_basis_in_dysfunction_of MONDO:0008252 platelet adenylate cyclase activity MONDO MONDO:0003847 subclass MONDO:0008252 platelet adenylate cyclase activity OMIM OMIM:173395 one_to_one MONDO:0008253 platelet aggregation, spontaneous MESH MESH:C566800 one_to_one @@ -46987,6 +47638,7 @@ MONDO:0008259 familial spontaneous pneumothorax OMIM OMIM:173600 one_to_one MONDO:0008259 familial spontaneous pneumothorax Orphanet Orphanet:2903 one_to_one MONDO:0008259 familial spontaneous pneumothorax SCTID SCTID:715219001 one_to_one MONDO:0008259 familial spontaneous pneumothorax UMLS UMLS:C1868193,UMLS:C4275252 inexact +MONDO:0008259 familial spontaneous pneumothorax http http://identifiers.org/hgnc/27310 disease_has_basis_in_dysfunction_of MONDO:0008260 Kindler syndrome DOID DOID:0060472 one_to_one MONDO:0008260 Kindler syndrome GARD GARD:0004391 one_to_one MONDO:0008260 Kindler syndrome ICD10 ICD10:Q81.8 inexact @@ -46995,6 +47647,7 @@ MONDO:0008260 Kindler syndrome MONDO MONDO:0019276 subclass MONDO:0008260 Kindler syndrome OMIM OMIM:173650 one_to_one MONDO:0008260 Kindler syndrome Orphanet Orphanet:2908 one_to_one MONDO:0008260 Kindler syndrome SCTID SCTID:238836000 one_to_one +MONDO:0008260 Kindler syndrome http http://identifiers.org/hgnc/15889 disease_has_basis_in_dysfunction_of MONDO:0008261 hereditary sclerosing poikiloderma, weary type ICD10 ICD10:Q82.8 inexact MONDO:0008261 hereditary sclerosing poikiloderma, weary type MESH MESH:C562824 one_to_one MONDO:0008261 hereditary sclerosing poikiloderma, weary type MONDO MONDO:0016382 subclass @@ -47017,6 +47670,7 @@ MONDO:0008263 polycystic kidney disease 1 MONDO MONDO:0004691 subclass MONDO:0008263 polycystic kidney disease 1 OMIM OMIM:173900 one_to_one MONDO:0008263 polycystic kidney disease 1 SCTID SCTID:253878003 one_to_one MONDO:0008263 polycystic kidney disease 1 UMLS UMLS:C3149841 one_to_one +MONDO:0008263 polycystic kidney disease 1 http http://identifiers.org/hgnc/9008 disease_has_basis_in_dysfunction_of MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia EFO EFO:0008617 one_to_one MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia GARD GARD:0010801 one_to_one MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia ICD10 ICD10:Q61.5 inexact @@ -47028,6 +47682,7 @@ MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia Orphanet Orphanet:34149 one_to_one MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia SCTID SCTID:444699000 one_to_one MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia UMLS UMLS:C1868139,UMLS:C4054549,UMLS:C4511620,UMLS:CN204412,UMLS:CN536252 inexact +MONDO:0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia http http://identifiers.org/hgnc/7508 disease_has_basis_in_dysfunction_of MONDO:0008265 isolated polycystic liver disease GARD GARD:0009457 one_to_one MONDO:0008265 isolated polycystic liver disease ICD10 ICD10:Q44.6 inexact MONDO:0008265 isolated polycystic liver disease MONDO MONDO:0021128 has_modifier @@ -47037,8 +47692,10 @@ MONDO:0008265 isolated polycystic liver disease OMIM OMIM:174050 one_to_one MONDO:0008265 isolated polycystic liver disease Orphanet Orphanet:2924 one_to_one MONDO:0008265 isolated polycystic liver disease SCTID SCTID:716196007 one_to_one MONDO:0008265 isolated polycystic liver disease UMLS UMLS:C4255088 one_to_one +MONDO:0008265 isolated polycystic liver disease http http://identifiers.org/hgnc/21082,http://identifiers.org/hgnc/9411 disease_has_basis_in_dysfunction_of MONDO:0008266 polydactyly, postaxial, type A1 MONDO MONDO:0019673 subclass MONDO:0008266 polydactyly, postaxial, type A1 OMIM OMIM:174200 one_to_one +MONDO:0008266 polydactyly, postaxial, type A1 http http://identifiers.org/hgnc/4319 disease_has_basis_in_dysfunction_of 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 @@ -47048,6 +47705,7 @@ 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 MONDO:0008267 orofaciodigital syndrome V UMLS UMLS:C1868118 one_to_one +MONDO:0008267 orofaciodigital syndrome V http http://identifiers.org/hgnc/25360 disease_has_basis_in_dysfunction_of MONDO:0008268 polydactyly-myopia syndrome GARD GARD:0004413 one_to_one MONDO:0008268 polydactyly-myopia syndrome ICD10 ICD10:Q87.2 inexact MONDO:0008268 polydactyly-myopia syndrome ICD9 ICD9:625.4 inexact @@ -47069,6 +47727,7 @@ MONDO:0008270 polydactyly of a triphalangeal thumb MONDO MONDO:0017425 subclass MONDO:0008270 polydactyly of a triphalangeal thumb OMIM OMIM:174500 one_to_one MONDO:0008270 polydactyly of a triphalangeal thumb Orphanet Orphanet:93336 one_to_one MONDO:0008270 polydactyly of a triphalangeal thumb UMLS UMLS:C1868114 one_to_one +MONDO:0008270 polydactyly of a triphalangeal thumb http http://identifiers.org/hgnc/13243 disease_has_basis_in_dysfunction_of MONDO:0008271 polydactyly of an index finger GARD GARD:0002256 one_to_one MONDO:0008271 polydactyly of an index finger ICD10 ICD10:Q69.0 inexact MONDO:0008271 polydactyly of an index finger MESH MESH:C566784 one_to_one @@ -47088,6 +47747,7 @@ MONDO:0008272 polysyndactyly OMIM OMIM:174700 one_to_one MONDO:0008272 polysyndactyly Orphanet Orphanet:93338 one_to_one MONDO:0008272 polysyndactyly SCTID SCTID:84598000 one_to_one MONDO:0008272 polysyndactyly UMLS UMLS:C0265553,UMLS:C1868111 inexact +MONDO:0008272 polysyndactyly http http://identifiers.org/hgnc/4319 disease_has_basis_in_dysfunction_of MONDO:0008273 actinic prurigo COHD COHD:141374 one_to_one MONDO:0008273 actinic prurigo ICD10 ICD10:L56.4 inexact MONDO:0008273 actinic prurigo MONDO MONDO:0019304 subclass @@ -47106,6 +47766,7 @@ MONDO:0008274 polyostotic fibrous dysplasia OMIM OMIM:174800 one_to_one MONDO:0008274 polyostotic fibrous dysplasia Orphanet Orphanet:93276 one_to_one MONDO:0008274 polyostotic fibrous dysplasia SCTID SCTID:36517007 one_to_one MONDO:0008274 polyostotic fibrous dysplasia UMLS UMLS:C0016065 one_to_one +MONDO:0008274 polyostotic fibrous dysplasia http http://identifiers.org/hgnc/4392 disease_has_basis_in_dysfunction_of MONDO:0008275 familial expansile osteolysis GARD GARD:0009168 one_to_one MONDO:0008275 familial expansile osteolysis ICD10 ICD10:M89.5 inexact MONDO:0008275 familial expansile osteolysis ICD9 ICD9:756.9 inexact @@ -47114,12 +47775,14 @@ MONDO:0008275 familial expansile osteolysis MONDO MONDO:0019707 subclass MONDO:0008275 familial expansile osteolysis OMIM OMIM:174810 one_to_one MONDO:0008275 familial expansile osteolysis Orphanet Orphanet:85195 one_to_one MONDO:0008275 familial expansile osteolysis SCTID SCTID:254153009 one_to_one +MONDO:0008275 familial expansile osteolysis http http://identifiers.org/hgnc/11908 disease_has_basis_in_dysfunction_of MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli DOID DOID:0050787 one_to_one MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli ICD10 ICD10:D12.6 inexact MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli MONDO MONDO:0000426,MONDO:0017380 subclass MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli OMIM OMIM:174900 one_to_one MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli Orphanet Orphanet:329971 one_to_one MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli UMLS UMLS:CN204230 one_to_one +MONDO:0008276 generalized juvenile polyposis/juvenile polyposis coli http http://identifiers.org/hgnc/1076,http://identifiers.org/hgnc/6770 disease_has_basis_in_dysfunction_of MONDO:0008277 stomach polyp COHD COHD:4303233 one_to_one MONDO:0008277 stomach polyp MESH MESH:C562464 one_to_one MONDO:0008277 stomach polyp MONDO MONDO:0005079,MONDO:0021085 subclass @@ -47130,6 +47793,7 @@ MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome MONDO MONDO:0017380 subclass MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome OMIM OMIM:175050 one_to_one MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome UMLS UMLS:C1832942 one_to_one +MONDO:0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome http http://identifiers.org/hgnc/6770 disease_has_basis_in_dysfunction_of MONDO:0008280 Peutz-Jeghers syndrome DOID DOID:3852 one_to_one MONDO:0008280 Peutz-Jeghers syndrome GARD GARD:0007378 one_to_one MONDO:0008280 Peutz-Jeghers syndrome ICD10 ICD10:Q85.8 inexact @@ -47142,6 +47806,7 @@ MONDO:0008280 Peutz-Jeghers syndrome OMIM OMIM:175200 one_to_one MONDO:0008280 Peutz-Jeghers syndrome Orphanet Orphanet:2869 one_to_one MONDO:0008280 Peutz-Jeghers syndrome SCTID SCTID:54411001 one_to_one MONDO:0008280 Peutz-Jeghers syndrome UMLS UMLS:C0031269,UMLS:C1333088 inexact +MONDO:0008280 Peutz-Jeghers syndrome http http://identifiers.org/hgnc/11389 disease_has_basis_in_dysfunction_of MONDO:0008281 polyposis, intestinal, scattered and discrete MONDO MONDO:0000147,MONDO:0003847 subclass MONDO:0008281 polyposis, intestinal, scattered and discrete OMIM OMIM:175400 one_to_one MONDO:0008281 polyposis, intestinal, scattered and discrete UMLS UMLS:C1868006 one_to_one @@ -47187,16 +47852,19 @@ MONDO:0008287 Greig cephalopolysyndactyly syndrome OMIM OMIM:175700 one_to_one MONDO:0008287 Greig cephalopolysyndactyly syndrome Orphanet Orphanet:380 one_to_one MONDO:0008287 Greig cephalopolysyndactyly syndrome SCTID SCTID:32985001 one_to_one MONDO:0008287 Greig cephalopolysyndactyly syndrome UMLS UMLS:C0265306 one_to_one +MONDO:0008287 Greig cephalopolysyndactyly syndrome http http://identifiers.org/hgnc/4319 disease_has_basis_in_dysfunction_of MONDO:0008288 popliteal cyst ICD9 ICD9:727.51 one_to_one MONDO:0008288 popliteal cyst MESH MESH:D011151 one_to_one MONDO:0008288 popliteal cyst MONDO MONDO:0003847 subclass MONDO:0008288 popliteal cyst OMIM OMIM:175750 one_to_one MONDO:0008288 popliteal cyst SCTID SCTID:82675004 one_to_one -MONDO:0008289 porencephaly 1 MONDO MONDO:0020496 subclass +MONDO:0008289 porencephaly 1 MONDO MONDO:0017410,MONDO:0020496 subclass MONDO:0008289 porencephaly 1 OMIM OMIM:175780 one_to_one MONDO:0008289 porencephaly 1 UMLS UMLS:CN032791 one_to_one +MONDO:0008289 porencephaly 1 http http://identifiers.org/hgnc/2202 disease_has_basis_in_dysfunction_of MONDO:0008290 POROK1 MONDO MONDO:0019141 subclass MONDO:0008290 POROK1 OMIM OMIM:175800 one_to_one +MONDO:0008290 POROK1 http http://identifiers.org/hgnc/9141 disease_has_basis_in_dysfunction_of MONDO:0008291 porokeratosis plantaris palmaris et disseminata ICD10 ICD10:Q82.8 inexact MONDO:0008291 porokeratosis plantaris palmaris et disseminata MONDO MONDO:0006602,MONDO:0016518 subclass MONDO:0008291 porokeratosis plantaris palmaris et disseminata OMIM OMIM:175850 one_to_one @@ -47213,6 +47881,7 @@ MONDO:0008293 porokeratosis 3, disseminated superficial actinic type GARD GARD:0 MONDO:0008293 porokeratosis 3, disseminated superficial actinic type MESH MESH:C536339 one_to_one MONDO:0008293 porokeratosis 3, disseminated superficial actinic type MONDO MONDO:0019141,MONDO:0019212 subclass MONDO:0008293 porokeratosis 3, disseminated superficial actinic type OMIM OMIM:175900 one_to_one +MONDO:0008293 porokeratosis 3, disseminated superficial actinic type http http://identifiers.org/hgnc/7530 disease_has_basis_in_dysfunction_of MONDO:0008294 acute intermittent porphyria DOID DOID:3890 one_to_one MONDO:0008294 acute intermittent porphyria GARD GARD:0005732 one_to_one MONDO:0008294 acute intermittent porphyria ICD10 ICD10:E80.2 inexact @@ -47223,6 +47892,7 @@ MONDO:0008294 acute intermittent porphyria OMIM OMIM:176000 one_to_one MONDO:0008294 acute intermittent porphyria Orphanet Orphanet:79276 one_to_one MONDO:0008294 acute intermittent porphyria SCTID SCTID:234422006 one_to_one MONDO:0008294 acute intermittent porphyria UMLS UMLS:C0162565 one_to_one +MONDO:0008294 acute intermittent porphyria http http://identifiers.org/hgnc/4982 disease_has_basis_in_dysfunction_of MONDO:0008295 sporadic porphyria cutanea tarda ICD10 ICD10:E80.1 inexact MONDO:0008295 sporadic porphyria cutanea tarda MESH MESH:C566768 one_to_one MONDO:0008295 sporadic porphyria cutanea tarda MONDO MONDO:0021141 has_modifier @@ -47238,6 +47908,7 @@ MONDO:0008296 familial porphyria cutanea tarda OMIM OMIM:176100 one_to_one MONDO:0008296 familial porphyria cutanea tarda Orphanet Orphanet:443062 one_to_one MONDO:0008296 familial porphyria cutanea tarda SCTID SCTID:59229005 one_to_one MONDO:0008296 familial porphyria cutanea tarda UMLS UMLS:C0268323 one_to_one +MONDO:0008296 familial porphyria cutanea tarda http http://identifiers.org/hgnc/12591,http://identifiers.org/hgnc/4886 disease_has_basis_in_dysfunction_of MONDO:0008297 variegate porphyria DOID DOID:4346 one_to_one MONDO:0008297 variegate porphyria GARD GARD:0007848 one_to_one MONDO:0008297 variegate porphyria ICD10 ICD10:E80.2 inexact @@ -47248,6 +47919,7 @@ MONDO:0008297 variegate porphyria OMIM OMIM:176200 one_to_one MONDO:0008297 variegate porphyria Orphanet Orphanet:79473 one_to_one MONDO:0008297 variegate porphyria SCTID SCTID:58275005 one_to_one MONDO:0008297 variegate porphyria UMLS UMLS:C0162532 one_to_one +MONDO:0008297 variegate porphyria http http://identifiers.org/hgnc/4886,http://identifiers.org/hgnc/9280 disease_has_basis_in_dysfunction_of MONDO:0008298 postaxial tetramelic oligodactyly GARD GARD:0004065 one_to_one MONDO:0008298 postaxial tetramelic oligodactyly ICD10 ICD10:Q73.8 inexact MONDO:0008298 postaxial tetramelic oligodactyly MESH MESH:C566767 one_to_one @@ -47273,6 +47945,7 @@ MONDO:0008300 Prader-Willi syndrome OMIM OMIM:176270 one_to_one MONDO:0008300 Prader-Willi syndrome Orphanet Orphanet:739 one_to_one MONDO:0008300 Prader-Willi syndrome SCTID SCTID:89392001 one_to_one MONDO:0008300 Prader-Willi syndrome UMLS UMLS:C0032897 one_to_one +MONDO:0008300 Prader-Willi syndrome http http://identifiers.org/hgnc/11164,http://identifiers.org/hgnc/1190,http://identifiers.org/hgnc/12910,http://identifiers.org/hgnc/30089,http://identifiers.org/hgnc/33020,http://identifiers.org/hgnc/33067,http://identifiers.org/hgnc/33235,http://identifiers.org/hgnc/4868,http://identifiers.org/hgnc/6109,http://identifiers.org/hgnc/6814,http://identifiers.org/hgnc/7114,http://identifiers.org/hgnc/7675 disease_has_basis_in_dysfunction_of MONDO:0008301 Guttmacher syndrome GARD GARD:0004470 one_to_one MONDO:0008301 Guttmacher syndrome ICD10 ICD10:Q87.2 inexact MONDO:0008301 Guttmacher syndrome MESH MESH:C538278 one_to_one @@ -47281,9 +47954,11 @@ MONDO:0008301 Guttmacher syndrome OMIM OMIM:176305 one_to_one MONDO:0008301 Guttmacher syndrome Orphanet Orphanet:2957 one_to_one MONDO:0008301 Guttmacher syndrome SCTID SCTID:722452004 one_to_one MONDO:0008301 Guttmacher syndrome UMLS UMLS:C1867801 one_to_one +MONDO:0008301 Guttmacher syndrome http http://identifiers.org/hgnc/5102 disease_has_basis_in_dysfunction_of MONDO:0008302 precocious puberty, central, 1 MONDO MONDO:0019165 subclass MONDO:0008302 precocious puberty, central, 1 OMIM OMIM:176400 one_to_one MONDO:0008302 precocious puberty, central, 1 UMLS UMLS:C3805879 one_to_one +MONDO:0008302 precocious puberty, central, 1 http http://identifiers.org/hgnc/4510 disease_has_basis_in_dysfunction_of MONDO:0008303 familial male-limited precocious puberty GARD GARD:0004475 one_to_one MONDO:0008303 familial male-limited precocious puberty ICD10 ICD10:E30.1 inexact MONDO:0008303 familial male-limited precocious puberty MONDO MONDO:0015791 subclass @@ -47292,9 +47967,12 @@ MONDO:0008303 familial male-limited precocious puberty OMIM OMIM:176410 one_to_o MONDO:0008303 familial male-limited precocious puberty Orphanet Orphanet:3000 one_to_one MONDO:0008303 familial male-limited precocious puberty SCTID SCTID:237818003 one_to_one MONDO:0008303 familial male-limited precocious puberty UMLS UMLS:C1504412 one_to_one +MONDO:0008303 familial male-limited precocious puberty http http://identifiers.org/hgnc/6585 disease_has_basis_in_dysfunction_of +MONDO:0008304 premature chromatid separation trait EFO EFO:0009077 one_to_one MONDO:0008304 premature chromatid separation trait MONDO MONDO:0003847 subclass MONDO:0008304 premature chromatid separation trait OMIM OMIM:176430 one_to_one MONDO:0008304 premature chromatid separation trait UMLS UMLS:C1864389 one_to_one +MONDO:0008304 premature chromatid separation trait http http://identifiers.org/hgnc/1149 disease_has_basis_in_dysfunction_of MONDO:0008305 Currarino triad GARD GARD:0001626 one_to_one MONDO:0008305 Currarino triad ICD10 ICD10:Q87.8 inexact MONDO:0008305 Currarino triad ICD9 ICD9:759.89 inexact @@ -47304,6 +47982,7 @@ MONDO:0008305 Currarino triad OMIM OMIM:176450 one_to_one MONDO:0008305 Currarino triad Orphanet Orphanet:1552 one_to_one MONDO:0008305 Currarino triad SCTID SCTID:413936007 one_to_one MONDO:0008305 Currarino triad UMLS UMLS:C1531773 one_to_one +MONDO:0008305 Currarino triad http http://identifiers.org/hgnc/4979 disease_has_basis_in_dysfunction_of MONDO:0008306 ABri amyloidosis DOID DOID:0070029 one_to_one MONDO:0008306 ABri amyloidosis GARD GARD:0008344 one_to_one MONDO:0008306 ABri amyloidosis ICD10 ICD10:E85.4+,ICD10:I68.0* inexact @@ -47312,6 +47991,7 @@ MONDO:0008306 ABri amyloidosis MONDO MONDO:0005620,MONDO:0018591 subclass MONDO:0008306 ABri amyloidosis OMIM OMIM:176500 one_to_one MONDO:0008306 ABri amyloidosis Orphanet Orphanet:97345 one_to_one MONDO:0008306 ABri amyloidosis UMLS UMLS:C1867773 one_to_one +MONDO:0008306 ABri amyloidosis http http://identifiers.org/hgnc/6174 disease_has_basis_in_dysfunction_of MONDO:0008307 presenile dementia, Kraepelin type GARD GARD:0010032 one_to_one MONDO:0008307 presenile dementia, Kraepelin type MESH MESH:C535273 one_to_one MONDO:0008307 presenile dementia, Kraepelin type MONDO MONDO:0003847 subclass @@ -47340,6 +48020,7 @@ MONDO:0008310 progeria OMIMPS OMIMPS:176670 one_to_one MONDO:0008310 progeria Orphanet Orphanet:740 one_to_one MONDO:0008310 progeria SCTID SCTID:238870004 one_to_one MONDO:0008310 progeria UMLS UMLS:C0033300,UMLS:CN236401 inexact +MONDO:0008310 progeria http http://identifiers.org/hgnc/6636 disease_has_basis_in_dysfunction_of MONDO:0008311 progeria-short stature-pigmented nevi syndrome GARD GARD:0004494 one_to_one MONDO:0008311 progeria-short stature-pigmented nevi syndrome ICD9 ICD9:759.89 inexact MONDO:0008311 progeria-short stature-pigmented nevi syndrome MESH MESH:C536422 one_to_one @@ -47373,8 +48054,10 @@ MONDO:0008315 prostate cancer Orphanet Orphanet:1331 one_to_one MONDO:0008315 prostate cancer SCTID SCTID:399068003 one_to_one MONDO:0008315 prostate cancer UBERON UBERON:0002367 disease_has_location MONDO:0008315 prostate cancer UMLS UMLS:C0376358 one_to_one +MONDO:0008315 prostate cancer http http://identifiers.org/hgnc/1101,http://identifiers.org/hgnc/16627,http://identifiers.org/hgnc/1748,http://identifiers.org/hgnc/2235,http://identifiers.org/hgnc/4913,http://identifiers.org/hgnc/6210,http://identifiers.org/hgnc/644,http://identifiers.org/hgnc/6762,http://identifiers.org/hgnc/7376,http://identifiers.org/hgnc/7534,http://identifiers.org/hgnc/777,http://identifiers.org/hgnc/9588 disease_has_basis_in_dysfunction_of MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant MONDO MONDO:0019145 subclass MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant OMIM OMIM:176860 one_to_one +MONDO:0008316 thrombophilia due to protein C deficiency, autosomal dominant http http://identifiers.org/hgnc/9451 disease_has_basis_in_dysfunction_of MONDO:0008317 proteolytic capacity of plasma MONDO MONDO:0003847 subclass MONDO:0008317 proteolytic capacity of plasma OMIM OMIM:176900 one_to_one MONDO:0008318 Proteus syndrome DOID DOID:13482 one_to_one @@ -47383,16 +48066,18 @@ 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:0019716,MONDO:0020036,MONDO:0021211,MONDO:0024653,MONDO:0043218 subclass +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 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 MONDO:0008318 Proteus syndrome SCTID SCTID:23150001 one_to_one MONDO:0008318 Proteus syndrome UMLS UMLS:C0085261 one_to_one +MONDO:0008318 Proteus syndrome http http://identifiers.org/hgnc/391 disease_has_basis_in_dysfunction_of MONDO:0008319 protoporphyria, erythropoietic GARD GARD:0004527 one_to_one MONDO:0008319 protoporphyria, erythropoietic MONDO MONDO:0001676,MONDO:0015115,MONDO:0019142 subclass MONDO:0008319 protoporphyria, erythropoietic NCIT NCIT:C84698 one_to_one MONDO:0008319 protoporphyria, erythropoietic OMIM OMIM:177000 one_to_one +MONDO:0008319 protoporphyria, erythropoietic http http://identifiers.org/hgnc/3647 disease_has_basis_in_dysfunction_of MONDO:0008320 Protrusio acetabuli (disease) HP HP:0003179 one_to_one MONDO:0008320 Protrusio acetabuli (disease) MONDO MONDO:0003847 subclass MONDO:0008320 Protrusio acetabuli (disease) OMIM OMIM:177050 one_to_one @@ -47412,6 +48097,7 @@ MONDO:0008322 pseudoachondroplasia OMIM OMIM:177170 one_to_one MONDO:0008322 pseudoachondroplasia Orphanet Orphanet:750 one_to_one MONDO:0008322 pseudoachondroplasia SCTID SCTID:22567005 one_to_one MONDO:0008322 pseudoachondroplasia UMLS UMLS:C0410538 one_to_one +MONDO:0008322 pseudoachondroplasia http http://identifiers.org/hgnc/2227 disease_has_basis_in_dysfunction_of MONDO:0008323 Liddle syndrome DOID DOID:0050477 one_to_one MONDO:0008323 Liddle syndrome GARD GARD:0007381 one_to_one MONDO:0008323 Liddle syndrome ICD10 ICD10:I15.1 inexact @@ -47423,6 +48109,7 @@ MONDO:0008323 Liddle syndrome OMIM OMIM:177200 one_to_one MONDO:0008323 Liddle syndrome Orphanet Orphanet:526 one_to_one MONDO:0008323 Liddle syndrome SCTID SCTID:707747007 one_to_one MONDO:0008323 Liddle syndrome UMLS UMLS:C0221043 one_to_one +MONDO:0008323 Liddle syndrome http http://identifiers.org/hgnc/10600,http://identifiers.org/hgnc/10602 disease_has_basis_in_dysfunction_of MONDO:0008324 pseudoarthrogryposis MESH MESH:C566753 one_to_one MONDO:0008324 pseudoarthrogryposis MONDO MONDO:0003847 subclass MONDO:0008324 pseudoarthrogryposis OMIM OMIM:177300 one_to_one @@ -47444,6 +48131,7 @@ MONDO:0008327 exfoliation syndrome NCIT NCIT:C129025 one_to_one MONDO:0008327 exfoliation syndrome OMIM OMIM:177650 one_to_one MONDO:0008327 exfoliation syndrome SCTID SCTID:111514006 one_to_one MONDO:0008327 exfoliation syndrome UMLS UMLS:C0206368 one_to_one +MONDO:0008327 exfoliation syndrome http http://identifiers.org/hgnc/6665 disease_has_basis_in_dysfunction_of MONDO:0008328 glaucoma 1, open angle, P MONDO MONDO:0005338,MONDO:0018174 subclass MONDO:0008328 glaucoma 1, open angle, P OMIM OMIM:177700 one_to_one MONDO:0008328 glaucoma 1, open angle, P UMLS UMLS:C3888338 one_to_one @@ -47454,6 +48142,7 @@ MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 MONDO MONDO:0019 MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 OMIM OMIM:177735 one_to_one MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 Orphanet Orphanet:171871 one_to_one MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 UMLS UMLS:C1449842 one_to_one +MONDO:0008329 autosomal dominant pseudohypoaldosteronism type 1 http http://identifiers.org/hgnc/7979 disease_has_basis_in_dysfunction_of MONDO:0008330 pseudomonilethrix MESH MESH:C562988 one_to_one MONDO:0008330 pseudomonilethrix MONDO MONDO:0003847 subclass MONDO:0008330 pseudomonilethrix OMIM OMIM:177750 one_to_one @@ -47477,11 +48166,13 @@ MONDO:0008332 pseudo-von Willebrand disease MONDO MONDO:0017142,MONDO:0019565 su MONDO:0008332 pseudo-von Willebrand disease NCIT NCIT:C131681 one_to_one MONDO:0008332 pseudo-von Willebrand disease OMIM OMIM:177820 one_to_one MONDO:0008332 pseudo-von Willebrand disease Orphanet Orphanet:52530 one_to_one +MONDO:0008332 pseudo-von Willebrand disease http http://identifiers.org/hgnc/4439 disease_has_basis_in_dysfunction_of MONDO:0008333 pseudoxanthoma elasticum, forme fruste GARD GARD:0010104 one_to_one MONDO:0008333 pseudoxanthoma elasticum, forme fruste MONDO MONDO:0009925 subclass MONDO:0008333 pseudoxanthoma elasticum, forme fruste OMIM OMIM:177850 one_to_one MONDO:0008334 psoriasis 1, susceptibility to MONDO MONDO:0005083,MONDO:0024255 subclass MONDO:0008334 psoriasis 1, susceptibility to OMIM OMIM:177900 one_to_one +MONDO:0008334 psoriasis 1, susceptibility to http http://identifiers.org/hgnc/4933 disease_has_basis_in_dysfunction_of MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome GARD GARD:0002605 one_to_one MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome MESH MESH:C535844 one_to_one @@ -47509,6 +48200,7 @@ MONDO:0008338 autosomal dominant multiple pterygium syndrome MONDO MONDO:0000426 MONDO:0008338 autosomal dominant multiple pterygium syndrome OMIM OMIM:178110 one_to_one MONDO:0008338 autosomal dominant multiple pterygium syndrome Orphanet Orphanet:65743 one_to_one MONDO:0008338 autosomal dominant multiple pterygium syndrome UMLS UMLS:C1867440 one_to_one +MONDO:0008338 autosomal dominant multiple pterygium syndrome http http://identifiers.org/hgnc/7573 disease_has_basis_in_dysfunction_of MONDO:0008339 antecubital pterygium syndrome GARD GARD:0004570 one_to_one MONDO:0008339 antecubital pterygium syndrome MESH MESH:C566738 one_to_one MONDO:0008339 antecubital pterygium syndrome MONDO MONDO:0018798,MONDO:0019295 subclass @@ -47527,6 +48219,7 @@ MONDO:0008340 congenital ptosis (disease) NCIT NCIT:C27049 one_to_one MONDO:0008340 congenital ptosis (disease) OMIM OMIM:178300 one_to_one MONDO:0008340 congenital ptosis (disease) Orphanet Orphanet:91411 one_to_one MONDO:0008340 congenital ptosis (disease) SCTID SCTID:268163008 one_to_one +MONDO:0008340 congenital ptosis (disease) http http://identifiers.org/hgnc/30939 disease_has_basis_in_dysfunction_of MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome GARD GARD:0004577 one_to_one MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MESH MESH:C566736 one_to_one MONDO:0008341 ptosis-strabismus-ectopic pupils syndrome MONDO MONDO:0020169 subclass @@ -47565,6 +48258,7 @@ MONDO:0008345 idiopathic pulmonary fibrosis NCIT NCIT:C35716 one_to_one MONDO:0008345 idiopathic pulmonary fibrosis OMIM OMIM:178500 one_to_one MONDO:0008345 idiopathic pulmonary fibrosis Orphanet Orphanet:2032 one_to_one MONDO:0008345 idiopathic pulmonary fibrosis SCTID SCTID:196125002 one_to_one +MONDO:0008345 idiopathic pulmonary fibrosis http http://identifiers.org/hgnc/10798,http://identifiers.org/hgnc/10799,http://identifiers.org/hgnc/10802,http://identifiers.org/hgnc/11730,http://identifiers.org/hgnc/7516 disease_has_basis_in_dysfunction_of MONDO:0008346 pulmonary hemosiderosis COHD COHD:438782 one_to_one MONDO:0008346 pulmonary hemosiderosis DOID DOID:10328,DOID:12118 inexact MONDO:0008346 pulmonary hemosiderosis GARD GARD:0006763,GARD:0007645 inexact @@ -47681,6 +48375,7 @@ MONDO:0008368 autosomal dominant distal renal tubular acidosis ICD10 ICD10:N25.8 MONDO:0008368 autosomal dominant distal renal tubular acidosis MONDO MONDO:0000426,MONDO:0015827 subclass MONDO:0008368 autosomal dominant distal renal tubular acidosis OMIM OMIM:179800 one_to_one MONDO:0008368 autosomal dominant distal renal tubular acidosis Orphanet Orphanet:93608 one_to_one +MONDO:0008368 autosomal dominant distal renal tubular acidosis http http://identifiers.org/hgnc/11027 disease_has_basis_in_dysfunction_of MONDO:0008369 proximal renal tubular acidosis ICD10 ICD10:N25.8 inexact MONDO:0008369 proximal renal tubular acidosis ICD9 ICD9:588.89 inexact MONDO:0008369 proximal renal tubular acidosis MONDO MONDO:0001909,MONDO:0017828 subclass @@ -47708,6 +48403,7 @@ MONDO:0008373 retinal arterial tortuosity (disease) ICD10 ICD10:Q14.1 inexact MONDO:0008373 retinal arterial tortuosity (disease) MONDO MONDO:0018790 subclass MONDO:0008373 retinal arterial tortuosity (disease) OMIM OMIM:180000 one_to_one MONDO:0008373 retinal arterial tortuosity (disease) Orphanet Orphanet:75326 one_to_one +MONDO:0008373 retinal arterial tortuosity (disease) http http://identifiers.org/hgnc/2202 disease_has_basis_in_dysfunction_of MONDO:0008374 retinal cone dystrophy type 1 GARD GARD:0003196 one_to_one MONDO:0008374 retinal cone dystrophy type 1 MESH MESH:C566719 one_to_one MONDO:0008374 retinal cone dystrophy type 1 MONDO MONDO:0000455 subclass @@ -47731,24 +48427,24 @@ MONDO:0008377 retinitis pigmentosa 1 GARD GARD:0009149 one_to_one MONDO:0008377 retinitis pigmentosa 1 ICD10 ICD10:H35.5 inexact MONDO:0008377 retinitis pigmentosa 1 MESH MESH:C538365 one_to_one MONDO:0008377 retinitis pigmentosa 1 MONDO MONDO:0019200 subclass -MONDO:0008377 retinitis pigmentosa 1 NCBIGene NCBIGene:6101 disease_has_basis_in_dysfunction_of MONDO:0008377 retinitis pigmentosa 1 OMIM OMIM:180100 one_to_one MONDO:0008377 retinitis pigmentosa 1 UMLS UMLS:C0220701 one_to_one +MONDO:0008377 retinitis pigmentosa 1 http http://identifiers.org/hgnc/10263 disease_has_basis_in_dysfunction_of MONDO:0008378 retinitis pigmentosa 9 DOID DOID:0110387 one_to_one MONDO:0008378 retinitis pigmentosa 9 GARD GARD:0010382 one_to_one MONDO:0008378 retinitis pigmentosa 9 ICD10 ICD10:H35.5 inexact MONDO:0008378 retinitis pigmentosa 9 MESH MESH:C566716 one_to_one MONDO:0008378 retinitis pigmentosa 9 MONDO MONDO:0019200 subclass -MONDO:0008378 retinitis pigmentosa 9 NCBIGene NCBIGene:6100 disease_has_basis_in_dysfunction_of MONDO:0008378 retinitis pigmentosa 9 OMIM OMIM:180104 one_to_one MONDO:0008378 retinitis pigmentosa 9 UMLS UMLS:C1867300 one_to_one +MONDO:0008378 retinitis pigmentosa 9 http http://identifiers.org/hgnc/10288 disease_has_basis_in_dysfunction_of MONDO:0008379 retinitis pigmentosa 10 DOID DOID:0110388 one_to_one MONDO:0008379 retinitis pigmentosa 10 ICD10 ICD10:H35.5 inexact MONDO:0008379 retinitis pigmentosa 10 MESH MESH:C566715 one_to_one MONDO:0008379 retinitis pigmentosa 10 MONDO MONDO:0019200 subclass -MONDO:0008379 retinitis pigmentosa 10 NCBIGene NCBIGene:3614 disease_has_basis_in_dysfunction_of MONDO:0008379 retinitis pigmentosa 10 OMIM OMIM:180105 one_to_one MONDO:0008379 retinitis pigmentosa 10 UMLS UMLS:C1867299 one_to_one +MONDO:0008379 retinitis pigmentosa 10 http http://identifiers.org/hgnc/6052 disease_has_basis_in_dysfunction_of MONDO:0008380 retinoblastoma DOID DOID:768 one_to_one MONDO:0008380 retinoblastoma GARD GARD:0007563 one_to_one MONDO:0008380 retinoblastoma ICD10 ICD10:C69.2 inexact @@ -47765,6 +48461,7 @@ MONDO:0008380 retinoblastoma SCTID SCTID:370967009 one_to_one MONDO:0008380 retinoblastoma UBERON UBERON:0005425 disease_arises_from_structure MONDO:0008380 retinoblastoma UBERON UBERON:0003902 disease_has_location MONDO:0008380 retinoblastoma UMLS UMLS:C0035335 one_to_one +MONDO:0008380 retinoblastoma http http://identifiers.org/hgnc/9884 disease_has_basis_in_dysfunction_of MONDO:0008381 dominant pericentral pigmentary retinopathy DOID DOID:0110420 one_to_one MONDO:0008381 dominant pericentral pigmentary retinopathy ICD10 ICD10:H35.5 inexact MONDO:0008381 dominant pericentral pigmentary retinopathy MESH MESH:C566713 one_to_one @@ -47791,6 +48488,7 @@ MONDO:0008383 rheumatoid arthritis NCIT NCIT:C2884 one_to_one MONDO:0008383 rheumatoid arthritis OMIM OMIM:180300 one_to_one MONDO:0008383 rheumatoid arthritis SCTID SCTID:69896004 one_to_one MONDO:0008383 rheumatoid arthritis UMLS UMLS:C0003873 one_to_one +MONDO:0008383 rheumatoid arthritis http http://identifiers.org/hgnc/10968,http://identifiers.org/hgnc/18171,http://identifiers.org/hgnc/18368,http://identifiers.org/hgnc/4948,http://identifiers.org/hgnc/5962,http://identifiers.org/hgnc/7067,http://identifiers.org/hgnc/7800,http://identifiers.org/hgnc/9652 disease_has_basis_in_dysfunction_of MONDO:0008384 rheumatoid nodulosis GARD GARD:0009625 one_to_one MONDO:0008384 rheumatoid nodulosis MESH MESH:D012218 one_to_one MONDO:0008384 rheumatoid nodulosis MONDO MONDO:0024280 subclass @@ -47802,10 +48500,11 @@ MONDO:0008385 rhiny MONDO MONDO:0003847 subclass MONDO:0008385 rhiny OMIM OMIM:180360 one_to_one MONDO:0008386 Axenfeld-Rieger syndrome type 1 DOID DOID:0110120 one_to_one MONDO:0008386 Axenfeld-Rieger syndrome type 1 ICD10 ICD10:Q13.8 inexact -MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO MONDO:0019187 subclass +MONDO:0008386 Axenfeld-Rieger syndrome type 1 MONDO MONDO:0007662,MONDO:0019187 subclass MONDO:0008386 Axenfeld-Rieger syndrome type 1 NCIT NCIT:C75015 one_to_one MONDO:0008386 Axenfeld-Rieger syndrome type 1 OMIM OMIM:180500 one_to_one MONDO:0008386 Axenfeld-Rieger syndrome type 1 UMLS UMLS:C3714873 one_to_one +MONDO:0008386 Axenfeld-Rieger syndrome type 1 http http://identifiers.org/hgnc/9005 disease_has_basis_in_dysfunction_of MONDO:0008387 ring dermoid of cornea GARD GARD:0009696 one_to_one MONDO:0008387 ring dermoid of cornea ICD10 ICD10:D31.1 one_to_one MONDO:0008387 ring dermoid of cornea MESH MESH:C535684 one_to_one @@ -47813,6 +48512,7 @@ MONDO:0008387 ring dermoid of cornea MONDO MONDO:0015121 subclass MONDO:0008387 ring dermoid of cornea OMIM OMIM:180550 one_to_one MONDO:0008387 ring dermoid of cornea Orphanet Orphanet:91481 one_to_one MONDO:0008387 ring dermoid of cornea UMLS UMLS:C1867155 one_to_one +MONDO:0008387 ring dermoid of cornea http http://identifiers.org/hgnc/9005 disease_has_basis_in_dysfunction_of MONDO:0008388 ringed hair disease GARD GARD:0004359 one_to_one MONDO:0008388 ringed hair disease ICD10 ICD10:Q84.1 inexact MONDO:0008388 ringed hair disease MESH MESH:C537187 one_to_one @@ -47841,17 +48541,20 @@ MONDO:0008391 Robinow-Sorauf syndrome MONDO MONDO:0003847 subclass MONDO:0008391 Robinow-Sorauf syndrome OMIM OMIM:180750 one_to_one MONDO:0008391 Robinow-Sorauf syndrome Orphanet Orphanet:3106 one_to_one MONDO:0008391 Robinow-Sorauf syndrome UMLS UMLS:C1867146,UMLS:CN203672 inexact +MONDO:0008391 Robinow-Sorauf syndrome http http://identifiers.org/hgnc/12428 disease_has_basis_in_dysfunction_of MONDO:0008392 Roussy-LC)vy syndrome GARD GARD:0004741 one_to_one MONDO:0008392 Roussy-LC)vy syndrome ICD10 ICD10:G60.0 inexact MONDO:0008392 Roussy-LC)vy syndrome ICD9 ICD9:334.3 inexact -MONDO:0008392 Roussy-LC)vy syndrome MONDO MONDO:0015359 subclass +MONDO:0008392 Roussy-LC)vy syndrome MONDO MONDO:0011909,MONDO:0015359 subclass MONDO:0008392 Roussy-LC)vy syndrome OMIM OMIM:180800 one_to_one MONDO:0008392 Roussy-LC)vy syndrome Orphanet Orphanet:3115 one_to_one MONDO:0008392 Roussy-LC)vy syndrome SCTID SCTID:45853006 one_to_one +MONDO:0008392 Roussy-LC)vy syndrome http http://identifiers.org/hgnc/9118 disease_has_basis_in_dysfunction_of MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations ICD10 ICD10:Q87.2 inexact MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations MONDO MONDO:0019188 subclass MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations OMIM OMIM:180849 one_to_one MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations Orphanet Orphanet:353277 one_to_one +MONDO:0008393 Rubinstein-Taybi syndrome due to CREBBP mutations http http://identifiers.org/hgnc/2348,http://identifiers.org/hgnc/3373 disease_has_basis_in_dysfunction_of MONDO:0008394 Silver-Russell syndrome DOID DOID:14681 one_to_one MONDO:0008394 Silver-Russell syndrome GARD GARD:0004870 one_to_one MONDO:0008394 Silver-Russell syndrome ICD10 ICD10:Q87.1 inexact @@ -47864,6 +48567,7 @@ MONDO:0008394 Silver-Russell syndrome OMIM OMIM:180860 one_to_one MONDO:0008394 Silver-Russell syndrome Orphanet Orphanet:813 one_to_one MONDO:0008394 Silver-Russell syndrome SCTID SCTID:15069006 one_to_one MONDO:0008394 Silver-Russell syndrome UMLS UMLS:C0175693 one_to_one +MONDO:0008394 Silver-Russell syndrome http http://identifiers.org/hgnc/4713,http://identifiers.org/hgnc/5466 disease_has_basis_in_dysfunction_of MONDO:0008395 Ruvalcaba syndrome GARD GARD:0004748 one_to_one MONDO:0008395 Ruvalcaba syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008395 Ruvalcaba syndrome ICD9 ICD9:759.89 inexact @@ -47887,6 +48591,7 @@ MONDO:0008397 aplasia of lacrimal and salivary glands MONDO MONDO:0020195 subcla MONDO:0008397 aplasia of lacrimal and salivary glands OMIM OMIM:180920 one_to_one MONDO:0008397 aplasia of lacrimal and salivary glands Orphanet Orphanet:86815 one_to_one MONDO:0008397 aplasia of lacrimal and salivary glands SCTID SCTID:715656004 one_to_one +MONDO:0008397 aplasia of lacrimal and salivary glands http http://identifiers.org/hgnc/3666 disease_has_basis_in_dysfunction_of MONDO:0008398 salivary substance, Clostridium botulinum type MONDO MONDO:0003847 subclass MONDO:0008398 salivary substance, Clostridium botulinum type OMIM OMIM:180950 one_to_one MONDO:0008398 salivary substance, Clostridium botulinum type UMLS UMLS:C1867056 one_to_one @@ -47894,6 +48599,7 @@ 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 MONDO:0008400 salivary duct calculi OMIM OMIM:181010 one_to_one @@ -47908,6 +48614,7 @@ MONDO:0008401 pleomorphic adenoma NCIT NCIT:C8602 one_to_one MONDO:0008401 pleomorphic adenoma OMIM OMIM:181030 one_to_one MONDO:0008401 pleomorphic adenoma Orphanet Orphanet:454821 one_to_one MONDO:0008401 pleomorphic adenoma SCTID SCTID:447888006 one_to_one +MONDO:0008401 pleomorphic adenoma http http://identifiers.org/hgnc/9045 disease_has_basis_in_dysfunction_of MONDO:0008402 cleft palate-large ears-small head syndrome GARD GARD:0000162 one_to_one MONDO:0008402 cleft palate-large ears-small head syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008402 cleft palate-large ears-small head syndrome MESH MESH:C536621 one_to_one @@ -47929,6 +48636,7 @@ MONDO:0008404 scalp-ear-nipple syndrome MONDO MONDO:0015853,MONDO:0015980,MONDO: MONDO:0008404 scalp-ear-nipple syndrome OMIM OMIM:181270 one_to_one MONDO:0008404 scalp-ear-nipple syndrome Orphanet Orphanet:2036 one_to_one MONDO:0008404 scalp-ear-nipple syndrome SCTID SCTID:721888002 one_to_one +MONDO:0008404 scalp-ear-nipple syndrome http http://identifiers.org/hgnc/18249 disease_has_basis_in_dysfunction_of MONDO:0008405 scapula, contour of vertebral border of MONDO MONDO:0003847 subclass MONDO:0008405 scapula, contour of vertebral border of OMIM OMIM:181300 one_to_one MONDO:0008406 autosomal recessive Emery-Dreifuss muscular dystrophy HP HP:0000007 has_modifier @@ -47942,6 +48650,7 @@ MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type MONDO MONDO:00161 MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type OMIM OMIM:181400 one_to_one MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type Orphanet Orphanet:85146 one_to_one MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type UMLS UMLS:C1867005 one_to_one +MONDO:0008407 neurogenic scapuloperoneal syndrome, Kaeser type http http://identifiers.org/hgnc/2770 disease_has_basis_in_dysfunction_of MONDO:0008408 scapuloperoneal spinal muscular atrophy EFO EFO:1001992 one_to_one MONDO:0008408 scapuloperoneal spinal muscular atrophy GARD GARD:0010314 one_to_one MONDO:0008408 scapuloperoneal spinal muscular atrophy ICD10 ICD10:G12.1 inexact @@ -47950,6 +48659,7 @@ MONDO:0008408 scapuloperoneal spinal muscular atrophy MONDO MONDO:0024257 subcla MONDO:0008408 scapuloperoneal spinal muscular atrophy OMIM OMIM:181405 one_to_one MONDO:0008408 scapuloperoneal spinal muscular atrophy Orphanet Orphanet:431255 one_to_one MONDO:0008408 scapuloperoneal spinal muscular atrophy SCTID SCTID:230248006 one_to_one +MONDO:0008408 scapuloperoneal spinal muscular atrophy http http://identifiers.org/hgnc/18083 disease_has_basis_in_dysfunction_of MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy GARD GARD:0010313 one_to_one MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy ICD10 ICD10:G71.0 inexact MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy MONDO MONDO:0000727,MONDO:0010680,MONDO:0016195,MONDO:0018549 subclass @@ -47957,6 +48667,7 @@ MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy OMIM OM MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy Orphanet Orphanet:437572 one_to_one MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy SCTID SCTID:129620000 one_to_one MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy UMLS UMLS:CN074265 one_to_one +MONDO:0008409 MYH7-related late-onset scapuloperoneal muscular dystrophy http http://identifiers.org/hgnc/7577 disease_has_basis_in_dysfunction_of MONDO:0008410 Scheuermann disease COHD COHD:433565 one_to_one MONDO:0008410 Scheuermann disease DOID DOID:13300 one_to_one MONDO:0008410 Scheuermann disease EFO EFO:0008576 one_to_one @@ -47980,6 +48691,7 @@ MONDO:0008411 ulnar-mammary syndrome OMIM OMIM:181450 one_to_one MONDO:0008411 ulnar-mammary syndrome Orphanet Orphanet:3138 one_to_one MONDO:0008411 ulnar-mammary syndrome SCTID SCTID:700211007 one_to_one MONDO:0008411 ulnar-mammary syndrome UMLS UMLS:C1866994 one_to_one +MONDO:0008411 ulnar-mammary syndrome http http://identifiers.org/hgnc/11602 disease_has_basis_in_dysfunction_of MONDO:0008412 intestinal schistosomiasis DOID DOID:0050597 one_to_one MONDO:0008412 intestinal schistosomiasis EFO EFO:1001419 one_to_one MONDO:0008412 intestinal schistosomiasis HP HP:0001433,HP:0001880,HP:0002573 disease_has_feature @@ -48019,6 +48731,7 @@ MONDO:0008420 seborrheic keratosis NCIT NCIT:C9006 one_to_one MONDO:0008420 seborrheic keratosis OMIM OMIM:182000 one_to_one MONDO:0008420 seborrheic keratosis UMLS UMLS:C0022603 one_to_one MONDO:0008420 seborrheic keratosis Wikipedia Wikipedia:Seborrheic_keratosis one_to_one +MONDO:0008420 seborrheic keratosis http http://identifiers.org/hgnc/8975 disease_has_basis_in_dysfunction_of MONDO:0008421 flat face-microstomia-ear anomaly syndrome GARD GARD:0004873 one_to_one MONDO:0008421 flat face-microstomia-ear anomaly syndrome ICD10 ICD10:Q87.0 inexact MONDO:0008421 flat face-microstomia-ear anomaly syndrome MESH MESH:C537339 one_to_one @@ -48032,6 +48745,7 @@ MONDO:0008422 autosomal dominant sideroblastic anemia MESH MESH:C567160 one_to_o MONDO:0008422 autosomal dominant sideroblastic anemia MONDO MONDO:0000426,MONDO:0015194 subclass MONDO:0008422 autosomal dominant sideroblastic anemia OMIM OMIM:182170 one_to_one MONDO:0008422 autosomal dominant sideroblastic anemia UMLS UMLS:C2674249 one_to_one +MONDO:0008422 autosomal dominant sideroblastic anemia http http://identifiers.org/hgnc/5244 disease_has_basis_in_dysfunction_of MONDO:0008423 sinus node disease and myopia GARD GARD:0004880 one_to_one MONDO:0008423 sinus node disease and myopia MESH MESH:C566690 one_to_one MONDO:0008423 sinus node disease and myopia MONDO MONDO:0012061 subclass @@ -48056,6 +48770,7 @@ MONDO:0008426 Shprintzen-Goldberg syndrome OMIM OMIM:182212 one_to_one MONDO:0008426 Shprintzen-Goldberg syndrome Orphanet Orphanet:2462 one_to_one MONDO:0008426 Shprintzen-Goldberg syndrome SCTID SCTID:719069008 one_to_one MONDO:0008426 Shprintzen-Goldberg syndrome UMLS UMLS:C1321551 one_to_one +MONDO:0008426 Shprintzen-Goldberg syndrome http http://identifiers.org/hgnc/10896 disease_has_basis_in_dysfunction_of MONDO:0008427 sister chromatid exchange, frequency of MONDO MONDO:0003847 subclass MONDO:0008427 sister chromatid exchange, frequency of OMIM OMIM:182220 one_to_one MONDO:0008428 septooptic dysplasia DOID DOID:0060857 one_to_one @@ -48069,6 +48784,7 @@ MONDO:0008428 septooptic dysplasia OMIM OMIM:182230 one_to_one MONDO:0008428 septooptic dysplasia Orphanet Orphanet:3157 one_to_one MONDO:0008428 septooptic dysplasia SCTID SCTID:7611002 one_to_one MONDO:0008428 septooptic dysplasia UMLS UMLS:C0338503 one_to_one +MONDO:0008428 septooptic dysplasia http http://identifiers.org/hgnc/4877 disease_has_basis_in_dysfunction_of MONDO:0008429 singleton-Merten dysplasia DC DC:0000703 one_to_one MONDO:0008429 singleton-Merten dysplasia GARD GARD:0000122 one_to_one MONDO:0008429 singleton-Merten dysplasia ICD10 ICD10:Q78.8 inexact @@ -48103,6 +48819,7 @@ MONDO:0008433 small cell lung carcinoma ONCOTREE ONCOTREE:SCLC one_to_one MONDO:0008433 small cell lung carcinoma Orphanet Orphanet:70573 one_to_one MONDO:0008433 small cell lung carcinoma SCTID SCTID:254632001 one_to_one MONDO:0008433 small cell lung carcinoma UBERON UBERON:0002048 disease_has_location +MONDO:0008433 small cell lung carcinoma http http://identifiers.org/hgnc/9884 disease_has_basis_in_dysfunction_of MONDO:0008434 Smith-Magenis syndrome DOID DOID:0060768 one_to_one MONDO:0008434 Smith-Magenis syndrome GARD GARD:0008197 one_to_one MONDO:0008434 Smith-Magenis syndrome ICD10 ICD10:Q93.5 inexact @@ -48114,6 +48831,7 @@ MONDO:0008434 Smith-Magenis syndrome OMIM OMIM:182290 one_to_one MONDO:0008434 Smith-Magenis syndrome Orphanet Orphanet:819 one_to_one MONDO:0008434 Smith-Magenis syndrome SCTID SCTID:401315004 one_to_one MONDO:0008434 Smith-Magenis syndrome UMLS UMLS:C0795864 one_to_one +MONDO:0008434 Smith-Magenis syndrome http http://identifiers.org/hgnc/9834 disease_has_basis_in_dysfunction_of MONDO:0008435 Somatomedin, embryonic MONDO MONDO:0003847 subclass MONDO:0008435 Somatomedin, embryonic OMIM OMIM:182400 one_to_one MONDO:0008436 Sneddon syndrome DOID DOID:13096 one_to_one @@ -48127,25 +48845,27 @@ MONDO:0008436 Sneddon syndrome OMIM OMIM:182410 one_to_one MONDO:0008436 Sneddon syndrome Orphanet Orphanet:820 one_to_one MONDO:0008436 Sneddon syndrome SCTID SCTID:238776001 one_to_one MONDO:0008436 Sneddon syndrome UMLS UMLS:C0282492 one_to_one +MONDO:0008436 Sneddon syndrome http http://identifiers.org/hgnc/1839 disease_has_basis_in_dysfunction_of MONDO:0008437 hereditary spastic paraplegia 3A DOID DOID:0110791 one_to_one MONDO:0008437 hereditary spastic paraplegia 3A GARD GARD:0005041 one_to_one MONDO:0008437 hereditary spastic paraplegia 3A ICD10 ICD10:G11.4 inexact MONDO:0008437 hereditary spastic paraplegia 3A MESH MESH:C536864 one_to_one MONDO:0008437 hereditary spastic paraplegia 3A MONDO MONDO:0017914,MONDO:0019064 subclass -MONDO:0008437 hereditary spastic paraplegia 3A NCBIGene NCBIGene:51062 disease_has_basis_in_dysfunction_of MONDO:0008437 hereditary spastic paraplegia 3A NCIT NCIT:C142893 one_to_one MONDO:0008437 hereditary spastic paraplegia 3A OMIM OMIM:182600 one_to_one MONDO:0008437 hereditary spastic paraplegia 3A Orphanet Orphanet:100984 one_to_one MONDO:0008437 hereditary spastic paraplegia 3A UMLS UMLS:C2931355 one_to_one +MONDO:0008437 hereditary spastic paraplegia 3A http http://identifiers.org/hgnc/11231 disease_has_basis_in_dysfunction_of MONDO:0008438 hereditary spastic paraplegia 4 DOID DOID:0110792 one_to_one MONDO:0008438 hereditary spastic paraplegia 4 GARD GARD:0004925 one_to_one MONDO:0008438 hereditary spastic paraplegia 4 ICD10 ICD10:G11.4 inexact MONDO:0008438 hereditary spastic paraplegia 4 MESH MESH:C536865 one_to_one -MONDO:0008438 hereditary spastic paraplegia 4 MONDO MONDO:0017914 subclass +MONDO:0008438 hereditary spastic paraplegia 4 MONDO MONDO:0017914,MONDO:0019064 subclass MONDO:0008438 hereditary spastic paraplegia 4 NCIT NCIT:C129981 one_to_one MONDO:0008438 hereditary spastic paraplegia 4 OMIM OMIM:182601 one_to_one MONDO:0008438 hereditary spastic paraplegia 4 Orphanet Orphanet:100985 one_to_one MONDO:0008438 hereditary spastic paraplegia 4 UMLS UMLS:C1866855,UMLS:C4510079 inexact +MONDO:0008438 hereditary spastic paraplegia 4 http http://identifiers.org/hgnc/11233 disease_has_basis_in_dysfunction_of MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome GARD GARD:0004915 one_to_one MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome ICD10 ICD10:G11.4 inexact MONDO:0008439 spastic paraplegia-epilepsy-intellectual disability syndrome MESH MESH:C536869 one_to_one @@ -48190,9 +48910,9 @@ MONDO:0008446 sperm protamine P4 MONDO MONDO:0003847 subclass MONDO:0008446 sperm protamine P4 OMIM OMIM:182882 one_to_one MONDO:0008447 hereditary spherocytosis type 1 DOID DOID:0110916 one_to_one MONDO:0008447 hereditary spherocytosis type 1 MONDO MONDO:0019350 subclass -MONDO:0008447 hereditary spherocytosis type 1 NCBIGene NCBIGene:286 disease_has_basis_in_dysfunction_of MONDO:0008447 hereditary spherocytosis type 1 OMIM OMIM:182900 one_to_one MONDO:0008447 hereditary spherocytosis type 1 UMLS UMLS:C2674218 one_to_one +MONDO:0008447 hereditary spherocytosis type 1 http http://identifiers.org/hgnc/492 disease_has_basis_in_dysfunction_of MONDO:0008448 spheroid body myopathy DOID DOID:0080091 one_to_one MONDO:0008448 spheroid body myopathy GARD GARD:0008711 one_to_one MONDO:0008448 spheroid body myopathy ICD10 ICD10:G71.8 inexact @@ -48201,6 +48921,7 @@ MONDO:0008448 spheroid body myopathy MONDO MONDO:0016201,MONDO:0018943 subclass MONDO:0008448 spheroid body myopathy OMIM OMIM:182920 one_to_one MONDO:0008448 spheroid body myopathy Orphanet Orphanet:268129 one_to_one MONDO:0008448 spheroid body myopathy UMLS UMLS:C1866785 one_to_one +MONDO:0008448 spheroid body myopathy http http://identifiers.org/hgnc/12399 disease_has_basis_in_dysfunction_of MONDO:0008449 spina bifida (disease) COHD COHD:4283381 one_to_one MONDO:0008449 spina bifida (disease) DOID DOID:0080016 one_to_one MONDO:0008449 spina bifida (disease) EFO EFO:0003105 one_to_one @@ -48233,6 +48954,7 @@ MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant M MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant OMIM OMIM:182980 one_to_one MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant Orphanet Orphanet:209335 one_to_one MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant UMLS UMLS:CN200940 one_to_one +MONDO:0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant http http://identifiers.org/hgnc/12649 disease_has_basis_in_dysfunction_of MONDO:0008454 spinal intradural arachnoid cysts GARD GARD:0009701 one_to_one MONDO:0008454 spinal intradural arachnoid cysts MESH MESH:C536878 one_to_one MONDO:0008454 spinal intradural arachnoid cysts MONDO MONDO:0008813 subclass @@ -48254,14 +48976,17 @@ MONDO:0008457 spinocerebellar ataxia type 6 OMIM OMIM:183086 one_to_one MONDO:0008457 spinocerebellar ataxia type 6 Orphanet Orphanet:98758 one_to_one MONDO:0008457 spinocerebellar ataxia type 6 SCTID SCTID:715752006 one_to_one MONDO:0008457 spinocerebellar ataxia type 6 UMLS UMLS:C0752124 one_to_one +MONDO:0008457 spinocerebellar ataxia type 6 http http://identifiers.org/hgnc/1388 disease_has_basis_in_dysfunction_of MONDO:0008458 spinocerebellar ataxia type 2 DOID DOID:0050955,DOID:0060204 inexact MONDO:0008458 spinocerebellar ataxia type 2 GARD GARD:0004072 one_to_one MONDO:0008458 spinocerebellar ataxia type 2 ICD10 ICD10:G11.2 inexact MONDO:0008458 spinocerebellar ataxia type 2 MONDO MONDO:0005144,MONDO:0015548,MONDO:0019792 subclass +MONDO:0008458 spinocerebellar ataxia type 2 NCIT NCIT:C148315 one_to_one MONDO:0008458 spinocerebellar ataxia type 2 OMIM OMIM:183090 one_to_one MONDO:0008458 spinocerebellar ataxia type 2 Orphanet Orphanet:98756 one_to_one MONDO:0008458 spinocerebellar ataxia type 2 SCTID SCTID:715751004 one_to_one MONDO:0008458 spinocerebellar ataxia type 2 UMLS UMLS:C0752121 one_to_one +MONDO:0008458 spinocerebellar ataxia type 2 http http://identifiers.org/hgnc/10555 disease_has_basis_in_dysfunction_of MONDO:0008459 spinocerebellar atrophy with pupillary paralysis MESH MESH:C566668 one_to_one MONDO:0008459 spinocerebellar atrophy with pupillary paralysis MONDO MONDO:0003847 subclass MONDO:0008459 spinocerebellar atrophy with pupillary paralysis OMIM OMIM:183100 one_to_one @@ -48323,13 +49048,14 @@ MONDO:0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome UMLS UMLS: MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy MESH MESH:C566660 one_to_one MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy MONDO MONDO:0003847 subclass MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy OMIM OMIM:183850 one_to_one +MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy Orphanet Orphanet:163673 one_to_one MONDO:0008470 spondyloepiphyseal dysplasia with punctate corneal dystrophy UMLS UMLS:C1866727 one_to_one MONDO:0008471 spondyloepiphyseal dysplasia congenita DOID DOID:14789 one_to_one MONDO:0008471 spondyloepiphyseal dysplasia congenita GARD GARD:0004987 one_to_one MONDO:0008471 spondyloepiphyseal dysplasia congenita ICD10 ICD10:Q77.7 inexact MONDO:0008471 spondyloepiphyseal dysplasia congenita ICD9 ICD9:756.9 inexact MONDO:0008471 spondyloepiphyseal dysplasia congenita MESH MESH:C535788 one_to_one -MONDO:0008471 spondyloepiphyseal dysplasia congenita MONDO MONDO:0007738,MONDO:0016761,MONDO:0019686 subclass +MONDO:0008471 spondyloepiphyseal dysplasia congenita MONDO MONDO:0007738,MONDO:0016761,MONDO:0019686,MONDO:0022800 subclass MONDO:0008471 spondyloepiphyseal dysplasia congenita MedDRA MedDRA:10062920 inexact MONDO:0008471 spondyloepiphyseal dysplasia congenita OMIM OMIM:183900 one_to_one MONDO:0008471 spondyloepiphyseal dysplasia congenita Orphanet Orphanet:94068 one_to_one @@ -48346,6 +49072,7 @@ MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type MONDO MONDO:0007738,M MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type OMIM OMIM:184095 one_to_one MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type Orphanet Orphanet:263482 one_to_one MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type SCTID SCTID:719204007 one_to_one +MONDO:0008473 spondyloepiphyseal dysplasia, Maroteaux type http http://identifiers.org/hgnc/18083 disease_has_basis_in_dysfunction_of MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant GARD GARD:0010624 one_to_one MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant HP HP:0000006 has_modifier MONDO:0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant MESH MESH:C566658 one_to_one @@ -48368,7 +49095,7 @@ MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type HP HP:0000768,HP: MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type ICD10 ICD10:Q77.7 inexact MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type ICD9 ICD9:758.89 inexact MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO MONDO:0005392 disease_has_feature -MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO MONDO:0000844,MONDO:0015960,MONDO:0016761,MONDO:0019686 subclass +MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type MONDO MONDO:0000844,MONDO:0015960,MONDO:0016761,MONDO:0019686,MONDO:0022800 subclass MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type OMIM OMIM:184250 one_to_one MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type Orphanet Orphanet:93346 one_to_one MONDO:0008476 spondyloepimetaphyseal dysplasia, Strudwick type SCTID SCTID:702350003 one_to_one @@ -48378,6 +49105,7 @@ MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MESH MESH:C535797 on MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type MONDO MONDO:0015960,MONDO:0016763,MONDO:0018240 subclass MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type OMIM OMIM:184252 one_to_one MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type Orphanet Orphanet:93314 one_to_one +MONDO:0008477 spondylometaphyseal dysplasia, Kozlowski type http http://identifiers.org/hgnc/18083 disease_has_basis_in_dysfunction_of MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type GARD GARD:0000504 one_to_one MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type ICD10 ICD10:Q77.8 inexact MONDO:0008478 spondylometaphyseal dysplasia, Schmidt type MESH MESH:C535794 one_to_one @@ -48413,12 +49141,14 @@ 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 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 MONDO:0008484 stapes ankylosis with broad thumbs and toes MONDO MONDO:0019589 subclass MONDO:0008484 stapes ankylosis with broad thumbs and toes OMIM OMIM:184460 one_to_one MONDO:0008484 stapes ankylosis with broad thumbs and toes Orphanet Orphanet:140917 one_to_one MONDO:0008484 stapes ankylosis with broad thumbs and toes SCTID SCTID:719305006 one_to_one MONDO:0008484 stapes ankylosis with broad thumbs and toes UMLS UMLS:C1866656 one_to_one +MONDO:0008484 stapes ankylosis with broad thumbs and toes http http://identifiers.org/hgnc/7866 disease_has_basis_in_dysfunction_of MONDO:0008485 Sebocystomatosis GARD GARD:0005003 one_to_one MONDO:0008485 Sebocystomatosis ICD10 ICD10:L72.2 inexact MONDO:0008485 Sebocystomatosis MONDO MONDO:0019286 subclass @@ -48426,6 +49156,7 @@ MONDO:0008485 Sebocystomatosis OMIM OMIM:184500 one_to_one MONDO:0008485 Sebocystomatosis Orphanet Orphanet:841 one_to_one MONDO:0008485 Sebocystomatosis SCTID SCTID:109433009 one_to_one MONDO:0008485 Sebocystomatosis UMLS UMLS:C0259771,UMLS:C3671377 inexact +MONDO:0008485 Sebocystomatosis http http://identifiers.org/hgnc/6427 disease_has_basis_in_dysfunction_of MONDO:0008486 steatocystoma multiplex-natal teeth syndrome GARD GARD:0005004 one_to_one MONDO:0008486 steatocystoma multiplex-natal teeth syndrome ICD10 ICD10:L72.2 inexact MONDO:0008486 steatocystoma multiplex-natal teeth syndrome MESH MESH:C537487 one_to_one @@ -48460,6 +49191,7 @@ MONDO:0008490 Stickler syndrome type 3 MESH MESH:C537494 one_to_one MONDO:0008490 Stickler syndrome type 3 MONDO MONDO:0015335,MONDO:0019354,MONDO:0019687,MONDO:0043008 subclass MONDO:0008490 Stickler syndrome type 3 OMIM OMIM:184840 one_to_one MONDO:0008490 Stickler syndrome type 3 Orphanet Orphanet:166100 one_to_one +MONDO:0008490 Stickler syndrome type 3 http http://identifiers.org/hgnc/2187 disease_has_basis_in_dysfunction_of MONDO:0008491 stiff-person syndrome COHD COHD:379008 one_to_one MONDO:0008491 stiff-person syndrome DOID DOID:13366 one_to_one MONDO:0008491 stiff-person syndrome EFO EFO:0007498 one_to_one @@ -48483,6 +49215,7 @@ MONDO:0008492 stiff skin syndrome NCIT NCIT:C118636 one_to_one MONDO:0008492 stiff skin syndrome OMIM OMIM:184900 one_to_one MONDO:0008492 stiff skin syndrome Orphanet Orphanet:2833 one_to_one MONDO:0008492 stiff skin syndrome UMLS UMLS:C1861456 one_to_one +MONDO:0008492 stiff skin syndrome http http://identifiers.org/hgnc/3603 disease_has_basis_in_dysfunction_of MONDO:0008493 overhydrated hereditary stomatocytosis GARD GARD:0004183 one_to_one MONDO:0008493 overhydrated hereditary stomatocytosis ICD10 ICD10:D58.8 inexact MONDO:0008493 overhydrated hereditary stomatocytosis MESH MESH:C566111 one_to_one @@ -48491,6 +49224,7 @@ MONDO:0008493 overhydrated hereditary stomatocytosis OMIM OMIM:185000 one_to_one MONDO:0008493 overhydrated hereditary stomatocytosis Orphanet Orphanet:3203 one_to_one MONDO:0008493 overhydrated hereditary stomatocytosis SCTID SCTID:722125003 one_to_one MONDO:0008493 overhydrated hereditary stomatocytosis UMLS UMLS:C1861455 one_to_one +MONDO:0008493 overhydrated hereditary stomatocytosis http http://identifiers.org/hgnc/10006,http://identifiers.org/hgnc/3383 disease_has_basis_in_dysfunction_of MONDO:0008494 hereditary cryohydrocytosis with normal stomatin GARD GARD:0010184 one_to_one MONDO:0008494 hereditary cryohydrocytosis with normal stomatin ICD10 ICD10:D58.8 inexact MONDO:0008494 hereditary cryohydrocytosis with normal stomatin MESH MESH:C535827 one_to_one @@ -48498,6 +49232,7 @@ MONDO:0008494 hereditary cryohydrocytosis with normal stomatin MONDO MONDO:00122 MONDO:0008494 hereditary cryohydrocytosis with normal stomatin OMIM OMIM:185020 one_to_one MONDO:0008494 hereditary cryohydrocytosis with normal stomatin Orphanet Orphanet:398088 one_to_one MONDO:0008494 hereditary cryohydrocytosis with normal stomatin UMLS UMLS:C1861453 one_to_one +MONDO:0008494 hereditary cryohydrocytosis with normal stomatin http http://identifiers.org/hgnc/11027,http://identifiers.org/hgnc/16438 disease_has_basis_in_dysfunction_of MONDO:0008495 platelet storage pool deficiency CL CL:0000233 disease_has_location MONDO:0008495 platelet storage pool deficiency DOID DOID:2223 one_to_one MONDO:0008495 platelet storage pool deficiency EFO EFO:1001112 one_to_one @@ -48548,6 +49283,7 @@ MONDO:0008501 Sturge-Weber syndrome OMIM OMIM:185300 one_to_one MONDO:0008501 Sturge-Weber syndrome Orphanet Orphanet:3205 one_to_one MONDO:0008501 Sturge-Weber syndrome SCTID SCTID:19886006 one_to_one MONDO:0008501 Sturge-Weber syndrome UMLS UMLS:C0038505,UMLS:CN204001 inexact +MONDO:0008501 Sturge-Weber syndrome http http://identifiers.org/hgnc/4390 disease_has_basis_in_dysfunction_of MONDO:0008502 sulfhemoglobinemia, congenital MESH MESH:C566102 one_to_one MONDO:0008502 sulfhemoglobinemia, congenital MONDO MONDO:0003847 subclass MONDO:0008502 sulfhemoglobinemia, congenital OMIM OMIM:185460 one_to_one @@ -48571,6 +49307,7 @@ MONDO:0008504 supravalvular aortic stenosis (disease) OMIM OMIM:185500 one_to_on MONDO:0008504 supravalvular aortic stenosis (disease) Orphanet Orphanet:3193 one_to_one MONDO:0008504 supravalvular aortic stenosis (disease) SCTID SCTID:268185002 one_to_one MONDO:0008504 supravalvular aortic stenosis (disease) UMLS UMLS:C0003499 one_to_one +MONDO:0008504 supravalvular aortic stenosis (disease) http http://identifiers.org/hgnc/3327 disease_has_basis_in_dysfunction_of MONDO:0008505 surface antigen, glycoprotein 75 MONDO MONDO:0003847 subclass MONDO:0008505 surface antigen, glycoprotein 75 OMIM OMIM:185540 one_to_one MONDO:0008506 symphalangism of toes MESH MESH:C566101 one_to_one @@ -48608,6 +49345,7 @@ MONDO:0008511 proximal symphalangism (disease) OMIM OMIM:185800 one_to_one MONDO:0008511 proximal symphalangism (disease) OMIMPS OMIMPS:185800 one_to_one MONDO:0008511 proximal symphalangism (disease) Orphanet Orphanet:3250 one_to_one MONDO:0008511 proximal symphalangism (disease) UMLS UMLS:C1861385 one_to_one +MONDO:0008511 proximal symphalangism (disease) http http://identifiers.org/hgnc/7866 disease_has_basis_in_dysfunction_of MONDO:0008512 syndactyly type 1 GARD GARD:0005081 one_to_one MONDO:0008512 syndactyly type 1 ICD10 ICD10:Q70.0,ICD10:Q70.1,ICD10:Q70.2,ICD10:Q70.3 inexact MONDO:0008512 syndactyly type 1 MONDO MONDO:0000762,MONDO:0019530 subclass @@ -48620,6 +49358,7 @@ MONDO:0008513 synpolydactyly type 1 MONDO MONDO:0000722,MONDO:0019683 subclass MONDO:0008513 synpolydactyly type 1 OMIM OMIM:186000 one_to_one MONDO:0008513 synpolydactyly type 1 Orphanet Orphanet:295195 one_to_one MONDO:0008513 synpolydactyly type 1 UMLS UMLS:CN203278 one_to_one +MONDO:0008513 synpolydactyly type 1 http http://identifiers.org/hgnc/5136 disease_has_basis_in_dysfunction_of MONDO:0008514 syndactyly type 3 GARD GARD:0005088 one_to_one MONDO:0008514 syndactyly type 3 ICD10 ICD10:Q70.1 inexact MONDO:0008514 syndactyly type 3 MESH MESH:C538154 one_to_one @@ -48628,6 +49367,7 @@ MONDO:0008514 syndactyly type 3 OMIM OMIM:186100 one_to_one MONDO:0008514 syndactyly type 3 Orphanet Orphanet:93404 one_to_one MONDO:0008514 syndactyly type 3 SCTID SCTID:715725001 one_to_one MONDO:0008514 syndactyly type 3 UMLS UMLS:C1861366 one_to_one +MONDO:0008514 syndactyly type 3 http http://identifiers.org/hgnc/4274 disease_has_basis_in_dysfunction_of MONDO:0008515 syndactyly type 4 GARD GARD:0004434 one_to_one MONDO:0008515 syndactyly type 4 ICD10 ICD10:Q70.4 inexact MONDO:0008515 syndactyly type 4 MESH MESH:C566092 one_to_one @@ -48636,6 +49376,7 @@ MONDO:0008515 syndactyly type 4 OMIM OMIM:186200 one_to_one MONDO:0008515 syndactyly type 4 Orphanet Orphanet:93405 one_to_one MONDO:0008515 syndactyly type 4 SCTID SCTID:719158007 one_to_one MONDO:0008515 syndactyly type 4 UMLS UMLS:C1861355 one_to_one +MONDO:0008515 syndactyly type 4 http http://identifiers.org/hgnc/13243 disease_has_basis_in_dysfunction_of MONDO:0008516 syndactyly type 5 GARD GARD:0005089 one_to_one MONDO:0008516 syndactyly type 5 ICD10 ICD10:Q70.0,ICD10:Q70.2 inexact MONDO:0008516 syndactyly type 5 MESH MESH:C538155 one_to_one @@ -48643,6 +49384,7 @@ MONDO:0008516 syndactyly type 5 MONDO MONDO:0019530 subclass MONDO:0008516 syndactyly type 5 OMIM OMIM:186300 one_to_one MONDO:0008516 syndactyly type 5 Orphanet Orphanet:93406 one_to_one MONDO:0008516 syndactyly type 5 SCTID SCTID:719159004 one_to_one +MONDO:0008516 syndactyly type 5 http http://identifiers.org/hgnc/5136 disease_has_basis_in_dysfunction_of MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome GARD GARD:0005090 one_to_one MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome MESH MESH:C566091 one_to_one MONDO:0008517 syndactyly-polydactyly-ear lobe syndrome MONDO MONDO:0017434 subclass @@ -48661,6 +49403,7 @@ MONDO:0008519 multiple synostoses syndrome 1 GARD GARD:0003836 one_to_one MONDO:0008519 multiple synostoses syndrome 1 MONDO MONDO:0017923 subclass MONDO:0008519 multiple synostoses syndrome 1 OMIM OMIM:186500 one_to_one MONDO:0008519 multiple synostoses syndrome 1 UMLS UMLS:C0342282 one_to_one +MONDO:0008519 multiple synostoses syndrome 1 http http://identifiers.org/hgnc/7866 disease_has_basis_in_dysfunction_of MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome GARD GARD:0000966 one_to_one MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome ICD10 ICD10:Q73.8 inexact MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MESH MESH:C566090 one_to_one @@ -48668,6 +49411,7 @@ MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome MONDO MONDO:0019066 s MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome OMIM OMIM:186550 one_to_one MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome Orphanet Orphanet:1275 one_to_one MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome UMLS UMLS:C1861313 one_to_one +MONDO:0008520 brachydactyly-elbow wrist dysplasia syndrome http http://identifiers.org/hgnc/9004 disease_has_basis_in_dysfunction_of MONDO:0008521 tarsal-carpal coalition syndrome DOID DOID:0050789 one_to_one MONDO:0008521 tarsal-carpal coalition syndrome EFO EFO:0008965 one_to_one MONDO:0008521 tarsal-carpal coalition syndrome GARD GARD:0009225 one_to_one @@ -48678,6 +49422,7 @@ MONDO:0008521 tarsal-carpal coalition syndrome OMIM OMIM:186570 one_to_one MONDO:0008521 tarsal-carpal coalition syndrome Orphanet Orphanet:1412 one_to_one MONDO:0008521 tarsal-carpal coalition syndrome SCTID SCTID:702312009 one_to_one MONDO:0008521 tarsal-carpal coalition syndrome UMLS UMLS:C1861305 one_to_one +MONDO:0008521 tarsal-carpal coalition syndrome http http://identifiers.org/hgnc/7866 disease_has_basis_in_dysfunction_of MONDO:0008522 synovial chondromatosis, familial, with dwarfism GARD GARD:0007720 one_to_one MONDO:0008522 synovial chondromatosis, familial, with dwarfism MESH MESH:C566087 one_to_one MONDO:0008522 synovial chondromatosis, familial, with dwarfism MONDO MONDO:0003847 subclass @@ -48695,6 +49440,7 @@ MONDO:0008523 Blau syndrome OMIM OMIM:186580 one_to_one MONDO:0008523 Blau syndrome Orphanet Orphanet:90340 one_to_one MONDO:0008523 Blau syndrome SCTID SCTID:699861000 one_to_one MONDO:0008523 Blau syndrome UMLS UMLS:C1861303 one_to_one +MONDO:0008523 Blau syndrome http http://identifiers.org/hgnc/5331 disease_has_basis_in_dysfunction_of MONDO:0008524 syringomas, multiple MESH MESH:C566085 one_to_one MONDO:0008524 syringomas, multiple MONDO MONDO:0003847 subclass MONDO:0008524 syringomas, multiple OMIM OMIM:186600 one_to_one @@ -48739,6 +49485,7 @@ MONDO:0008535 telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber MONDO:0008535 telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber MONDO MONDO:0019180 subclass MONDO:0008535 telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber OMIM OMIM:187300 one_to_one MONDO:0008535 telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber UMLS UMLS:CN034812 one_to_one +MONDO:0008535 telangiectasia, hereditary hemorrhagic, of Rendu, Osler, and Weber http http://identifiers.org/hgnc/3349 disease_has_basis_in_dysfunction_of MONDO:0008536 temperature-sensitive lethal mutation MONDO MONDO:0003847 subclass MONDO:0008536 temperature-sensitive lethal mutation OMIM OMIM:187340 one_to_one MONDO:0008537 telecanthus ICD10 ICD10:Q10.3 inexact @@ -48788,6 +49535,7 @@ MONDO:0008542 tetralogy of fallot OMIM OMIM:187500 one_to_one MONDO:0008542 tetralogy of fallot Orphanet Orphanet:3303 one_to_one MONDO:0008542 tetralogy of fallot SCTID SCTID:86299006 one_to_one MONDO:0008542 tetralogy of fallot UMLS UMLS:C0039685 one_to_one +MONDO:0008542 tetralogy of fallot http http://identifiers.org/hgnc/16700,http://identifiers.org/hgnc/4173,http://identifiers.org/hgnc/6188 disease_has_basis_in_dysfunction_of MONDO:0008543 tetralogy of fallot and glaucoma GARD GARD:0010107 one_to_one MONDO:0008543 tetralogy of fallot and glaucoma MESH MESH:C536501 one_to_one MONDO:0008543 tetralogy of fallot and glaucoma MONDO MONDO:0003847 subclass @@ -48821,6 +49569,7 @@ MONDO:0008547 thanatophoric dysplasia type 2 OMIM OMIM:187601 one_to_one MONDO:0008547 thanatophoric dysplasia type 2 Orphanet Orphanet:93274 one_to_one MONDO:0008547 thanatophoric dysplasia type 2 SCTID SCTID:389158007 one_to_one MONDO:0008547 thanatophoric dysplasia type 2 UMLS UMLS:C1300257,UMLS:CN206542 inexact +MONDO:0008547 thanatophoric dysplasia type 2 http http://identifiers.org/hgnc/3690 disease_has_basis_in_dysfunction_of MONDO:0008548 theophylline Biotransformation MONDO MONDO:0003847 subclass MONDO:0008548 theophylline Biotransformation OMIM OMIM:187650 one_to_one MONDO:0008548 theophylline Biotransformation UMLS UMLS:C1861211 one_to_one @@ -48841,20 +49590,24 @@ MONDO:0008552 platelet-type bleeding disorder 16 MESH MESH:C566061 one_to_one MONDO:0008552 platelet-type bleeding disorder 16 MONDO MONDO:0000009,MONDO:0021181 subclass MONDO:0008552 platelet-type bleeding disorder 16 OMIM OMIM:187800 one_to_one MONDO:0008552 platelet-type bleeding disorder 16 UMLS UMLS:C1861195 one_to_one +MONDO:0008552 platelet-type bleeding disorder 16 http http://identifiers.org/hgnc/6138,http://identifiers.org/hgnc/6156 disease_has_basis_in_dysfunction_of MONDO:0008553 platelet-type bleeding disorder 17 DOID DOID:0111049 one_to_one MONDO:0008553 platelet-type bleeding disorder 17 ICD10 ICD10:D69.1 inexact MONDO:0008553 platelet-type bleeding disorder 17 MESH MESH:C566060 one_to_one -MONDO:0008553 platelet-type bleeding disorder 17 MONDO MONDO:0007686 subclass +MONDO:0008553 platelet-type bleeding disorder 17 MONDO MONDO:0000009,MONDO:0007686 subclass MONDO:0008553 platelet-type bleeding disorder 17 NCIT NCIT:C142084 one_to_one MONDO:0008553 platelet-type bleeding disorder 17 OMIM OMIM:187900 one_to_one +MONDO:0008553 platelet-type bleeding disorder 17 http http://identifiers.org/hgnc/4238 disease_has_basis_in_dysfunction_of MONDO:0008554 thrombocythemia 1 MONDO MONDO:0002249,MONDO:0005029 subclass MONDO:0008554 thrombocythemia 1 OMIM OMIM:187950 one_to_one MONDO:0008554 thrombocythemia 1 UMLS UMLS:C3277671 one_to_one +MONDO:0008554 thrombocythemia 1 http http://identifiers.org/hgnc/11795,http://identifiers.org/hgnc/1455,http://identifiers.org/hgnc/29605 disease_has_basis_in_dysfunction_of MONDO:0008555 thrombocytopenia 2 GARD GARD:0005191 one_to_one MONDO:0008555 thrombocytopenia 2 MESH MESH:C536519 one_to_one MONDO:0008555 thrombocytopenia 2 MONDO MONDO:0015679 subclass MONDO:0008555 thrombocytopenia 2 NCIT NCIT:C129035 one_to_one MONDO:0008555 thrombocytopenia 2 OMIM OMIM:188000 one_to_one +MONDO:0008555 thrombocytopenia 2 http http://identifiers.org/hgnc/19042,http://identifiers.org/hgnc/29186 disease_has_basis_in_dysfunction_of MONDO:0008556 thrombocytopenia, cyclic GARD GARD:0009862 one_to_one MONDO:0008556 thrombocytopenia, cyclic ICD9 ICD9:287.39 inexact MONDO:0008556 thrombocytopenia, cyclic MESH MESH:C536899 one_to_one @@ -48880,18 +49633,21 @@ MONDO:0008558 autoimmune thrombocytopenic purpura MedDRA MedDRA:10021245 one_to_ MONDO:0008558 autoimmune thrombocytopenic purpura NCIT NCIT:C3446 one_to_one MONDO:0008558 autoimmune thrombocytopenic purpura OMIM OMIM:188030 one_to_one MONDO:0008558 autoimmune thrombocytopenic purpura Orphanet Orphanet:3002 one_to_one +MONDO:0008558 autoimmune thrombocytopenic purpura http http://identifiers.org/hgnc/15626 disease_has_basis_in_dysfunction_of MONDO:0008559 thrombophilia due to thrombin defect COHD COHD:444247 one_to_one MONDO:0008559 thrombophilia due to thrombin defect GARD GARD:0010815 one_to_one MONDO:0008559 thrombophilia due to thrombin defect ICD9 ICD9:453.9 inexact MONDO:0008559 thrombophilia due to thrombin defect MONDO MONDO:0002305,MONDO:0021181 subclass MONDO:0008559 thrombophilia due to thrombin defect OMIM OMIM:188050 one_to_one MONDO:0008559 thrombophilia due to thrombin defect SCTID SCTID:111293003 one_to_one +MONDO:0008559 thrombophilia due to thrombin defect http http://identifiers.org/hgnc/3531,http://identifiers.org/hgnc/3535,http://identifiers.org/hgnc/4798,http://identifiers.org/hgnc/7436 disease_has_basis_in_dysfunction_of MONDO:0008560 thrombophilia due to activated protein C resistance ICD9 ICD9:289.81 inexact MONDO:0008560 thrombophilia due to activated protein C resistance MESH MESH:D020016 one_to_one MONDO:0008560 thrombophilia due to activated protein C resistance MONDO MONDO:0002242,MONDO:0002305,MONDO:0021181 subclass MONDO:0008560 thrombophilia due to activated protein C resistance OMIM OMIM:188055 one_to_one MONDO:0008560 thrombophilia due to activated protein C resistance SCTID SCTID:421527008 one_to_one MONDO:0008560 thrombophilia due to activated protein C resistance UMLS UMLS:C1861171 one_to_one +MONDO:0008560 thrombophilia due to activated protein C resistance http http://identifiers.org/hgnc/3542 disease_has_basis_in_dysfunction_of MONDO:0008561 thumb deformity (disease) GARD GARD:0008482 one_to_one MONDO:0008561 thumb deformity (disease) HP HP:0001172 one_to_one MONDO:0008561 thumb deformity (disease) MESH MESH:C536903 one_to_one @@ -48919,6 +49675,7 @@ MONDO:0008564 DiGeorge syndrome OMIM OMIM:188400 one_to_one MONDO:0008564 DiGeorge syndrome SCTID SCTID:77128003 one_to_one MONDO:0008564 DiGeorge syndrome UBERON UBERON:0004117 disease_has_location MONDO:0008564 DiGeorge syndrome UMLS UMLS:CN734570 one_to_one +MONDO:0008564 DiGeorge syndrome http http://identifiers.org/hgnc/11592,http://identifiers.org/hgnc/2844 disease_has_basis_in_dysfunction_of MONDO:0008565 familial thyroglossal duct cyst GARD GARD:0005204 one_to_one MONDO:0008565 familial thyroglossal duct cyst ICD10 ICD10:Q89.2 inexact MONDO:0008565 familial thyroglossal duct cyst MESH MESH:C536909 one_to_one @@ -48932,26 +49689,31 @@ MONDO:0008566 thyroid cancer, nonmedullary, 2 GARD GARD:0005206 one_to_one MONDO:0008566 thyroid cancer, nonmedullary, 2 MESH MESH:C572845 one_to_one MONDO:0008566 thyroid cancer, nonmedullary, 2 MONDO MONDO:0000201,MONDO:0005034,MONDO:0017895 subclass MONDO:0008566 thyroid cancer, nonmedullary, 2 OMIM OMIM:188470 one_to_one +MONDO:0008566 thyroid cancer, nonmedullary, 2 http http://identifiers.org/hgnc/17382,http://identifiers.org/hgnc/5173,http://identifiers.org/hgnc/7102,http://identifiers.org/hgnc/7989,http://identifiers.org/hgnc/9588 disease_has_basis_in_dysfunction_of MONDO:0008567 thyroid cancer, nonmedullary, 1 MONDO MONDO:0000201,MONDO:0005075 subclass 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 MESH MESH:C536916 one_to_one -MONDO:0008568 thyroid hormone plasma membrane transport defect MONDO MONDO:0003847,MONDO:0021195 subclass +MONDO:0008568 thyroid hormone plasma membrane transport defect MONDO MONDO:0003847 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 MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant MONDO MONDO:0009043 subclass MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant OMIM OMIM:188570 one_to_one MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant UMLS UMLS:C2937288 one_to_one +MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant http http://identifiers.org/hgnc/11799 disease_has_basis_in_dysfunction_of MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 MONDO MONDO:0019201 subclass MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 OMIM OMIM:188580 one_to_one +MONDO:0008570 thyrotoxic periodic paralysis, susceptibility to, 1 http http://identifiers.org/hgnc/1397 disease_has_basis_in_dysfunction_of MONDO:0008571 Blount disease, infantile MONDO MONDO:0017194 subclass MONDO:0008571 Blount disease, infantile OMIM OMIM:188700 one_to_one MONDO:0008571 Blount disease, infantile UMLS UMLS:C3150037 one_to_one MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly MESH MESH:C566046 one_to_one MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly MONDO MONDO:0003847 subclass MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly OMIM OMIM:188740 one_to_one +MONDO:0008572 tibia, hypoplasia or aplasia of, with polydactyly http http://identifiers.org/hgnc/13243 disease_has_basis_in_dysfunction_of MONDO:0008573 tibial torsion, bilateral medial MESH MESH:C566045 one_to_one MONDO:0008573 tibial torsion, bilateral medial MONDO MONDO:0003847 subclass MONDO:0008573 tibial torsion, bilateral medial OMIM OMIM:188800 one_to_one @@ -48967,6 +49729,7 @@ MONDO:0008575 nicotine dependence MONDO MONDO:0003847,MONDO:0005303,MONDO:001911 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 +MONDO:0008575 nicotine dependence http http://identifiers.org/hgnc/11049,http://identifiers.org/hgnc/1958,http://identifiers.org/hgnc/2610,http://identifiers.org/hgnc/4507 disease_has_basis_in_dysfunction_of MONDO:0008576 toe, fifth, number of phalanges 1N MONDO MONDO:0003847 subclass MONDO:0008576 toe, fifth, number of phalanges 1N OMIM OMIM:189000 one_to_one MONDO:0008577 toe, misshapen MONDO MONDO:0003847 subclass @@ -48990,6 +49753,7 @@ MONDO:0008582 tooth and nail syndrome OMIM OMIM:189500 one_to_one MONDO:0008582 tooth and nail syndrome Orphanet Orphanet:2228 one_to_one MONDO:0008582 tooth and nail syndrome SCTID SCTID:400036004 one_to_one MONDO:0008582 tooth and nail syndrome UMLS UMLS:C0406735 one_to_one +MONDO:0008582 tooth and nail syndrome http http://identifiers.org/hgnc/7391 disease_has_basis_in_dysfunction_of MONDO:0008583 inherited torticollis (disease) COHD COHD:440814 one_to_one MONDO:0008583 inherited torticollis (disease) GARD GARD:0004908 one_to_one MONDO:0008583 inherited torticollis (disease) HP HP:0000473 one_to_one @@ -49014,6 +49778,7 @@ MONDO:0008585 HELLP syndrome NCIT NCIT:C84750 one_to_one MONDO:0008585 HELLP syndrome OMIM OMIM:189800 one_to_one MONDO:0008585 HELLP syndrome Orphanet Orphanet:244242 one_to_one MONDO:0008585 HELLP syndrome UMLS UMLS:C0162739 one_to_one +MONDO:0008585 HELLP syndrome http http://identifiers.org/hgnc/3401,http://identifiers.org/hgnc/7876 disease_has_basis_in_dysfunction_of MONDO:0008586 esophageal atresia/tracheoesophageal fistula DOID DOID:0080171 one_to_one MONDO:0008586 esophageal atresia/tracheoesophageal fistula GARD GARD:0007792 one_to_one MONDO:0008586 esophageal atresia/tracheoesophageal fistula ICD10 ICD10:Q39.0,ICD10:Q39.1 inexact @@ -49022,6 +49787,7 @@ MONDO:0008586 esophageal atresia/tracheoesophageal fistula MONDO MONDO:0015207 s MONDO:0008586 esophageal atresia/tracheoesophageal fistula MedDRA MedDRA:10021530,MedDRA:10030146 inexact MONDO:0008586 esophageal atresia/tracheoesophageal fistula OMIM OMIM:189960 one_to_one MONDO:0008586 esophageal atresia/tracheoesophageal fistula Orphanet Orphanet:1199 one_to_one +MONDO:0008586 esophageal atresia/tracheoesophageal fistula http http://identifiers.org/hgnc/1101,http://identifiers.org/hgnc/11195,http://identifiers.org/hgnc/20473,http://identifiers.org/hgnc/20626,http://identifiers.org/hgnc/20748,http://identifiers.org/hgnc/23168,http://identifiers.org/hgnc/23845,http://identifiers.org/hgnc/25568,http://identifiers.org/hgnc/26144,http://identifiers.org/hgnc/3436,http://identifiers.org/hgnc/3582,http://identifiers.org/hgnc/3583,http://identifiers.org/hgnc/3584,http://identifiers.org/hgnc/3585,http://identifiers.org/hgnc/3586,http://identifiers.org/hgnc/3587,http://identifiers.org/hgnc/3588,http://identifiers.org/hgnc/4319,http://identifiers.org/hgnc/7095,http://identifiers.org/hgnc/7559,http://identifiers.org/hgnc/9820 disease_has_basis_in_dysfunction_of MONDO:0008587 Tracheobronchopathia osteochondroplastica GARD GARD:0005235 one_to_one MONDO:0008587 Tracheobronchopathia osteochondroplastica ICD10 ICD10:J98.0 inexact MONDO:0008587 Tracheobronchopathia osteochondroplastica MESH MESH:C536977 one_to_one @@ -49046,6 +49812,7 @@ 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 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 MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome GARD GARD:0003948 one_to_one MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome MESH MESH:C536406 one_to_one MONDO:0008591 tremor-nystagmus-duodenal ulcer syndrome MONDO MONDO:0015957,MONDO:0017644 subclass @@ -49060,17 +49827,19 @@ MONDO:0008592 tricho-dento-osseous syndrome MONDO MONDO:0015336,MONDO:0015958,MO MONDO:0008592 tricho-dento-osseous syndrome OMIM OMIM:190320 one_to_one MONDO:0008592 tricho-dento-osseous syndrome Orphanet Orphanet:3352 one_to_one MONDO:0008592 tricho-dento-osseous syndrome SCTID SCTID:38993008 one_to_one +MONDO:0008592 tricho-dento-osseous syndrome http http://identifiers.org/hgnc/2916 disease_has_basis_in_dysfunction_of MONDO:0008593 trichomegaly MONDO MONDO:0003847 subclass MONDO:0008593 trichomegaly OMIM OMIM:190330 one_to_one +MONDO:0008593 trichomegaly http http://identifiers.org/hgnc/3683 disease_has_basis_in_dysfunction_of MONDO:0008594 FMDF GARD GARD:0008479 one_to_one MONDO:0008594 FMDF MESH MESH:C536847 one_to_one MONDO:0008594 FMDF MONDO MONDO:0003847 subclass MONDO:0008594 FMDF OMIM OMIM:190340 one_to_one MONDO:0008594 FMDF UMLS UMLS:C1860850 one_to_one -MONDO:0008595 Trichoepitheliomas, multiple desmoplastic MESH MESH:C566034 one_to_one -MONDO:0008595 Trichoepitheliomas, multiple desmoplastic MONDO MONDO:0003847 subclass -MONDO:0008595 Trichoepitheliomas, multiple desmoplastic OMIM OMIM:190345 one_to_one -MONDO:0008595 Trichoepitheliomas, multiple desmoplastic UMLS UMLS:C1860849 one_to_one +MONDO:0008595 trichoepitheliomas, multiple desmoplastic MESH MESH:C566034 one_to_one +MONDO:0008595 trichoepitheliomas, multiple desmoplastic MONDO MONDO:0003847 subclass +MONDO:0008595 trichoepitheliomas, multiple desmoplastic OMIM OMIM:190345 one_to_one +MONDO:0008595 trichoepitheliomas, multiple desmoplastic UMLS UMLS:C1860849 one_to_one MONDO:0008596 trichorhinophalangeal syndrome type I DOID DOID:14743 one_to_one MONDO:0008596 trichorhinophalangeal syndrome type I GARD GARD:0007800 one_to_one MONDO:0008596 trichorhinophalangeal syndrome type I ICD9 ICD9:759.89 inexact @@ -49079,6 +49848,7 @@ MONDO:0008596 trichorhinophalangeal syndrome type I MONDO MONDO:0000426,MONDO:00 MONDO:0008596 trichorhinophalangeal syndrome type I NCIT NCIT:C75109 one_to_one MONDO:0008596 trichorhinophalangeal syndrome type I OMIM OMIM:190350 one_to_one MONDO:0008596 trichorhinophalangeal syndrome type I SCTID SCTID:254091006 one_to_one +MONDO:0008596 trichorhinophalangeal syndrome type I http http://identifiers.org/hgnc/12340 disease_has_basis_in_dysfunction_of MONDO:0008597 trichorhinophalangeal syndrome, type III GARD GARD:0007802 one_to_one MONDO:0008597 trichorhinophalangeal syndrome, type III MONDO MONDO:0019176 subclass MONDO:0008597 trichorhinophalangeal syndrome, type III OMIM OMIM:190351 one_to_one @@ -49119,6 +49889,7 @@ MONDO:0008602 triglyceride storage disease, type 2 OMIM OMIM:190430 one_to_one MONDO:0008602 triglyceride storage disease, type 2 UMLS UMLS:C1860820 one_to_one MONDO:0008603 trigonocephaly 1 MONDO MONDO:0018065 subclass MONDO:0008603 trigonocephaly 1 OMIM OMIM:190440 one_to_one +MONDO:0008603 trigonocephaly 1 http http://identifiers.org/hgnc/3688 disease_has_basis_in_dysfunction_of MONDO:0008604 triphalangeal thumb with double phalanges MESH MESH:C566028 one_to_one MONDO:0008604 triphalangeal thumb with double phalanges MONDO MONDO:0003847 subclass MONDO:0008604 triphalangeal thumb with double phalanges OMIM OMIM:190500 one_to_one @@ -49156,6 +49927,7 @@ MONDO:0008608 down syndrome OMIM OMIM:190685 one_to_one MONDO:0008608 down syndrome Orphanet Orphanet:870 one_to_one MONDO:0008608 down syndrome SCTID SCTID:41040004 one_to_one MONDO:0008608 down syndrome UMLS UMLS:C0013080 one_to_one +MONDO:0008608 down syndrome http http://identifiers.org/hgnc/2708,http://identifiers.org/hgnc/4170 disease_has_basis_in_dysfunction_of MONDO:0008609 Tristichiasis MONDO MONDO:0003847 subclass MONDO:0008609 Tristichiasis OMIM OMIM:190800 one_to_one MONDO:0008610 blue color blindness DOID DOID:11661 one_to_one @@ -49166,6 +49938,7 @@ MONDO:0008610 blue color blindness OMIM OMIM:190900 one_to_one MONDO:0008610 blue color blindness Orphanet Orphanet:88629 one_to_one MONDO:0008610 blue color blindness SCTID SCTID:51886007 one_to_one MONDO:0008610 blue color blindness UMLS UMLS:C0155017 one_to_one +MONDO:0008610 blue color blindness http http://identifiers.org/hgnc/1012 disease_has_basis_in_dysfunction_of MONDO:0008611 humerus trochlea aplasia GARD GARD:0002750 one_to_one MONDO:0008611 humerus trochlea aplasia ICD10 ICD10:Q74.0 inexact MONDO:0008611 humerus trochlea aplasia MESH MESH:C566022 one_to_one @@ -49174,9 +49947,10 @@ MONDO:0008611 humerus trochlea aplasia OMIM OMIM:191000 one_to_one MONDO:0008611 humerus trochlea aplasia Orphanet Orphanet:3383 one_to_one MONDO:0008611 humerus trochlea aplasia UMLS UMLS:C1860773 one_to_one MONDO:0008612 tuberous sclerosis 1 GARD GARD:0005380 one_to_one -MONDO:0008612 tuberous sclerosis 1 MONDO MONDO:0000941,MONDO:0001734,MONDO:0019341 subclass +MONDO:0008612 tuberous sclerosis 1 MONDO MONDO:0000941,MONDO:0001734,MONDO:0015653,MONDO:0019341 subclass MONDO:0008612 tuberous sclerosis 1 NCIT NCIT:C75122 one_to_one MONDO:0008612 tuberous sclerosis 1 OMIM OMIM:191100 one_to_one +MONDO:0008612 tuberous sclerosis 1 http http://identifiers.org/hgnc/12362 disease_has_basis_in_dysfunction_of MONDO:0008613 Tuftsin deficiency ICD9 ICD9:279.03 inexact MONDO:0008613 Tuftsin deficiency MESH MESH:C562872 one_to_one MONDO:0008613 Tuftsin deficiency MONDO MONDO:0003847 subclass @@ -49231,14 +50005,15 @@ MONDO:0008621 uncombable hair syndrome OMIM OMIM:191480 one_to_one MONDO:0008621 uncombable hair syndrome Orphanet Orphanet:1410 one_to_one MONDO:0008621 uncombable hair syndrome SCTID SCTID:254230001 one_to_one MONDO:0008621 uncombable hair syndrome UMLS UMLS:C0432347 one_to_one -MONDO:0008622 Tricho-retino-dento-digital syndrome GARD GARD:0000938 one_to_one -MONDO:0008622 Tricho-retino-dento-digital syndrome ICD10 ICD10:Q82.4 inexact -MONDO:0008622 Tricho-retino-dento-digital syndrome MESH MESH:C536576 one_to_one -MONDO:0008622 Tricho-retino-dento-digital syndrome MONDO MONDO:0019287 subclass -MONDO:0008622 Tricho-retino-dento-digital syndrome OMIM OMIM:191482 one_to_one -MONDO:0008622 Tricho-retino-dento-digital syndrome Orphanet Orphanet:1264 one_to_one -MONDO:0008622 Tricho-retino-dento-digital syndrome SCTID SCTID:719910004 one_to_one -MONDO:0008622 Tricho-retino-dento-digital syndrome UMLS UMLS:C1860605 one_to_one +MONDO:0008621 uncombable hair syndrome http http://identifiers.org/hgnc/18337 disease_has_basis_in_dysfunction_of +MONDO:0008622 tricho-retino-dento-digital syndrome GARD GARD:0000938 one_to_one +MONDO:0008622 tricho-retino-dento-digital syndrome ICD10 ICD10:Q82.4 inexact +MONDO:0008622 tricho-retino-dento-digital syndrome MESH MESH:C536576 one_to_one +MONDO:0008622 tricho-retino-dento-digital syndrome MONDO MONDO:0019287 subclass +MONDO:0008622 tricho-retino-dento-digital syndrome OMIM OMIM:191482 one_to_one +MONDO:0008622 tricho-retino-dento-digital syndrome Orphanet Orphanet:1264 one_to_one +MONDO:0008622 tricho-retino-dento-digital syndrome SCTID SCTID:719910004 one_to_one +MONDO:0008622 tricho-retino-dento-digital syndrome UMLS UMLS:C1860605 one_to_one MONDO:0008623 Undritz anomaly MESH MESH:C566014 one_to_one MONDO:0008623 Undritz anomaly MONDO MONDO:0003847 subclass MONDO:0008623 Undritz anomaly OMIM OMIM:191500 one_to_one @@ -49302,6 +50077,7 @@ MONDO:0008633 Muckle-Wells syndrome OMIM OMIM:191900 one_to_one MONDO:0008633 Muckle-Wells syndrome Orphanet Orphanet:575 one_to_one MONDO:0008633 Muckle-Wells syndrome SCTID SCTID:402417009 one_to_one MONDO:0008633 Muckle-Wells syndrome UMLS UMLS:C0268390,UMLS:C1304205 inexact +MONDO:0008633 Muckle-Wells syndrome http http://identifiers.org/hgnc/16400 disease_has_basis_in_dysfunction_of MONDO:0008634 urticaria, familial localized heat MESH MESH:C566011 one_to_one MONDO:0008634 urticaria, familial localized heat MONDO MONDO:0003847 subclass MONDO:0008634 urticaria, familial localized heat OMIM OMIM:191950 one_to_one @@ -49336,7 +50112,7 @@ MONDO:0008639 vascular helix of umbilical cord OMIM OMIM:192300 one_to_one MONDO:0008640 vasculitis, lymphocytic, nodular CL CL:0000542 disease_has_basis_in_dysfunction_of MONDO:0008640 vasculitis, lymphocytic, nodular GARD GARD:0006941 one_to_one MONDO:0008640 vasculitis, lymphocytic, nodular MESH MESH:C566008 one_to_one -MONDO:0008640 vasculitis, lymphocytic, nodular MONDO MONDO:0015948,MONDO:0017133,MONDO:0018882,MONDO:0021197 subclass +MONDO:0008640 vasculitis, lymphocytic, nodular MONDO MONDO:0015948,MONDO:0017133,MONDO:0018882 subclass MONDO:0008640 vasculitis, lymphocytic, nodular OMIM OMIM:192310 one_to_one MONDO:0008640 vasculitis, lymphocytic, nodular UBERON UBERON:0000014 disease_has_location MONDO:0008640 vasculitis, lymphocytic, nodular UMLS UMLS:C1860519 one_to_one @@ -49347,6 +50123,7 @@ MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemi 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 MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations UMLS UMLS:C1860518 one_to_one +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations http http://identifiers.org/hgnc/12269 disease_has_basis_in_dysfunction_of MONDO:0008642 VACTERL/vater association DOID DOID:14679 one_to_one MONDO:0008642 VACTERL/vater association GARD GARD:0005443 one_to_one MONDO:0008642 VACTERL/vater association ICD10 ICD10:Q87.2 inexact @@ -49358,6 +50135,7 @@ MONDO:0008642 VACTERL/vater association OMIM OMIM:192350 one_to_one MONDO:0008642 VACTERL/vater association Orphanet Orphanet:887 one_to_one MONDO:0008642 VACTERL/vater association SCTID SCTID:27742002 one_to_one MONDO:0008642 VACTERL/vater association UMLS UMLS:C0220708,UMLS:C1735591,UMLS:CN206312 inexact +MONDO:0008642 VACTERL/vater association http http://identifiers.org/hgnc/5136 disease_has_basis_in_dysfunction_of MONDO:0008643 veins, pattern of, on anterior thorax MONDO MONDO:0003847 subclass MONDO:0008643 veins, pattern of, on anterior thorax OMIM OMIM:192400 one_to_one MONDO:0008644 velocardiofacial syndrome DOID DOID:12583 one_to_one @@ -49365,6 +50143,7 @@ MONDO:0008644 velocardiofacial syndrome ICD10 ICD10:Q93.81 one_to_one MONDO:0008644 velocardiofacial syndrome ICD9 ICD9:758.32 one_to_one MONDO:0008644 velocardiofacial syndrome MONDO MONDO:0000761,MONDO:0018923 subclass MONDO:0008644 velocardiofacial syndrome OMIM OMIM:192430 one_to_one +MONDO:0008644 velocardiofacial syndrome http http://identifiers.org/hgnc/11592,http://identifiers.org/hgnc/16817,http://identifiers.org/hgnc/2845,http://identifiers.org/hgnc/2846,http://identifiers.org/hgnc/2847 disease_has_basis_in_dysfunction_of MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome GARD GARD:0005472 one_to_one MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome MESH MESH:C537497 one_to_one @@ -49382,15 +50161,17 @@ MONDO:0008646 long QT syndrome 1 OMIM OMIM:192500 one_to_one MONDO:0008646 long QT syndrome 1 Orphanet Orphanet:101016 one_to_one MONDO:0008646 long QT syndrome 1 SCTID SCTID:20852007 one_to_one MONDO:0008646 long QT syndrome 1 UMLS UMLS:C0035828 one_to_one +MONDO:0008646 long QT syndrome 1 http http://identifiers.org/hgnc/6294 disease_has_basis_in_dysfunction_of MONDO:0008647 hypertrophic cardiomyopathy 1 DOID DOID:0110307 one_to_one MONDO:0008647 hypertrophic cardiomyopathy 1 MONDO MONDO:0005045,MONDO:0013197,MONDO:0020484 subclass -MONDO:0008647 hypertrophic cardiomyopathy 1 NCBIGene NCBIGene:4624,NCBIGene:4625,NCBIGene:85366,NCBIGene:859 disease_has_basis_in_dysfunction_of MONDO:0008647 hypertrophic cardiomyopathy 1 OMIM OMIM:192600 one_to_one +MONDO:0008647 hypertrophic cardiomyopathy 1 http http://identifiers.org/hgnc/1529,http://identifiers.org/hgnc/16243,http://identifiers.org/hgnc/7576,http://identifiers.org/hgnc/7577 disease_has_basis_in_dysfunction_of MONDO:0008648 ventricular tachycardia, familial GARD GARD:0002263 one_to_one MONDO:0008648 ventricular tachycardia, familial MONDO MONDO:0021152 has_modifier MONDO:0008648 ventricular tachycardia, familial MONDO MONDO:0003847,MONDO:0005477,MONDO:0015110 subclass MONDO:0008648 ventricular tachycardia, familial OMIM OMIM:192605 one_to_one MONDO:0008648 ventricular tachycardia, familial SCTID SCTID:233906007 one_to_one +MONDO:0008648 ventricular tachycardia, familial http http://identifiers.org/hgnc/4385 disease_has_basis_in_dysfunction_of MONDO:0008649 venular insufficiency, systemic MESH MESH:C566004 one_to_one MONDO:0008649 venular insufficiency, systemic MONDO MONDO:0003847 subclass MONDO:0008649 venular insufficiency, systemic OMIM OMIM:192700 one_to_one @@ -49415,6 +50196,7 @@ MONDO:0008652 congenital vertical talus MedDRA MedDRA:10066242 one_to_one MONDO:0008652 congenital vertical talus OMIM OMIM:192950 one_to_one MONDO:0008652 congenital vertical talus Orphanet Orphanet:178382 one_to_one MONDO:0008652 congenital vertical talus SCTID SCTID:205082007 one_to_one +MONDO:0008652 congenital vertical talus http http://identifiers.org/hgnc/5133 disease_has_basis_in_dysfunction_of MONDO:0008653 VUR1 MONDO MONDO:0017329 subclass MONDO:0008653 VUR1 OMIM OMIM:193000 one_to_one MONDO:0008653 VUR1 UMLS UMLS:CN032731 one_to_one @@ -49461,6 +50243,7 @@ MONDO:0008660 autosomal dominant hypophosphatemic rickets OMIM OMIM:193100 one_t MONDO:0008660 autosomal dominant hypophosphatemic rickets Orphanet Orphanet:89937 one_to_one MONDO:0008660 autosomal dominant hypophosphatemic rickets SCTID SCTID:237889002 one_to_one MONDO:0008660 autosomal dominant hypophosphatemic rickets UMLS UMLS:C0342642 one_to_one +MONDO:0008660 autosomal dominant hypophosphatemic rickets http http://identifiers.org/hgnc/3680 disease_has_basis_in_dysfunction_of MONDO:0008661 vitiligo COHD COHD:138502 one_to_one MONDO:0008661 vitiligo DOID DOID:12306 one_to_one MONDO:0008661 vitiligo EFO EFO:0004208 one_to_one @@ -49479,6 +50262,7 @@ MONDO:0008662 autosomal dominant vitreoretinochoroidopathy OMIM OMIM:193220 one_ MONDO:0008662 autosomal dominant vitreoretinochoroidopathy Orphanet Orphanet:3086 one_to_one MONDO:0008662 autosomal dominant vitreoretinochoroidopathy SCTID SCTID:711162004 one_to_one MONDO:0008662 autosomal dominant vitreoretinochoroidopathy UMLS UMLS:C3888099 one_to_one +MONDO:0008662 autosomal dominant vitreoretinochoroidopathy http http://identifiers.org/hgnc/12703 disease_has_basis_in_dysfunction_of MONDO:0008663 snowflake vitreoretinal degeneration GARD GARD:0009706 one_to_one MONDO:0008663 snowflake vitreoretinal degeneration ICD10 ICD10:H35.5 inexact MONDO:0008663 snowflake vitreoretinal degeneration MESH MESH:C536677 one_to_one @@ -49486,12 +50270,14 @@ MONDO:0008663 snowflake vitreoretinal degeneration MONDO MONDO:0020248 subclass MONDO:0008663 snowflake vitreoretinal degeneration OMIM OMIM:193230 one_to_one MONDO:0008663 snowflake vitreoretinal degeneration Orphanet Orphanet:91496 one_to_one MONDO:0008663 snowflake vitreoretinal degeneration UMLS UMLS:C1860405 one_to_one +MONDO:0008663 snowflake vitreoretinal degeneration http http://identifiers.org/hgnc/6259 disease_has_basis_in_dysfunction_of MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy ICD10 ICD10:H35.2 one_to_one MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy ICD9 ICD9:362.29 one_to_one MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy MONDO MONDO:0020248 subclass MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy OMIM OMIM:193235 one_to_one MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy Orphanet Orphanet:329211 one_to_one MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy SCTID SCTID:232016005 one_to_one +MONDO:0008664 autosomal dominant neovascular inflammatory vitreoretinopathy http http://identifiers.org/hgnc/1482 disease_has_basis_in_dysfunction_of MONDO:0008665 ptosis-vocal cord paralysis syndrome GARD GARD:0000427 one_to_one MONDO:0008665 ptosis-vocal cord paralysis syndrome MESH MESH:C536923 one_to_one MONDO:0008665 ptosis-vocal cord paralysis syndrome MONDO MONDO:0020169 subclass @@ -49515,6 +50301,7 @@ MONDO:0008667 von Hippel-Lindau disease OMIM OMIM:193300 one_to_one MONDO:0008667 von Hippel-Lindau disease Orphanet Orphanet:892 one_to_one MONDO:0008667 von Hippel-Lindau disease SCTID SCTID:46659004 one_to_one MONDO:0008667 von Hippel-Lindau disease UMLS UMLS:C0019562 one_to_one +MONDO:0008667 von Hippel-Lindau disease http http://identifiers.org/hgnc/12687,http://identifiers.org/hgnc/1582 disease_has_basis_in_dysfunction_of MONDO:0008668 von Willebrand disease 1 DOID DOID:0060573 one_to_one MONDO:0008668 von Willebrand disease 1 ICD10 ICD10:D68.0 inexact MONDO:0008668 von Willebrand disease 1 MESH MESH:D056725 one_to_one @@ -49524,6 +50311,7 @@ MONDO:0008668 von Willebrand disease 1 OMIM OMIM:193400 one_to_one MONDO:0008668 von Willebrand disease 1 Orphanet Orphanet:166078 one_to_one MONDO:0008668 von Willebrand disease 1 SCTID SCTID:128106003 one_to_one MONDO:0008668 von Willebrand disease 1 UMLS UMLS:C1264039 one_to_one +MONDO:0008668 von Willebrand disease 1 http http://identifiers.org/hgnc/12726 disease_has_basis_in_dysfunction_of MONDO:0008669 vulvovaginitis, allergic seminal MESH MESH:C565993 one_to_one MONDO:0008669 vulvovaginitis, allergic seminal MONDO MONDO:0007019 subclass MONDO:0008669 vulvovaginitis, allergic seminal OMIM OMIM:193450 one_to_one @@ -49537,12 +50325,14 @@ MONDO:0008670 Waardenburg syndrome type 1 NCIT NCIT:C75008 one_to_one MONDO:0008670 Waardenburg syndrome type 1 OMIM OMIM:193500 one_to_one MONDO:0008670 Waardenburg syndrome type 1 Orphanet Orphanet:894 one_to_one MONDO:0008670 Waardenburg syndrome type 1 UMLS UMLS:C1847800 one_to_one +MONDO:0008670 Waardenburg syndrome type 1 http http://identifiers.org/hgnc/8617 disease_has_basis_in_dysfunction_of MONDO:0008671 Waardenburg syndrome type 2A DOID DOID:0110950 one_to_one MONDO:0008671 Waardenburg syndrome type 2A GARD GARD:0005521 one_to_one MONDO:0008671 Waardenburg syndrome type 2A MESH MESH:C536464 one_to_one MONDO:0008671 Waardenburg syndrome type 2A MONDO MONDO:0019517 subclass MONDO:0008671 Waardenburg syndrome type 2A NCIT NCIT:C75011 one_to_one MONDO:0008671 Waardenburg syndrome type 2A OMIM OMIM:193510 one_to_one +MONDO:0008671 Waardenburg syndrome type 2A http http://identifiers.org/hgnc/7105 disease_has_basis_in_dysfunction_of MONDO:0008672 Watson syndrome GARD GARD:0005540 one_to_one MONDO:0008672 Watson syndrome ICD9 ICD9:709.8 inexact MONDO:0008672 Watson syndrome MONDO MONDO:0011035 subclass @@ -49557,6 +50347,7 @@ MONDO:0008673 acrofacial dysostosis, Weyers type OMIM OMIM:193530 one_to_one MONDO:0008673 acrofacial dysostosis, Weyers type Orphanet Orphanet:952 one_to_one MONDO:0008673 acrofacial dysostosis, Weyers type SCTID SCTID:277807007 one_to_one MONDO:0008673 acrofacial dysostosis, Weyers type UMLS UMLS:C0457013 one_to_one +MONDO:0008673 acrofacial dysostosis, Weyers type http http://identifiers.org/hgnc/19747,http://identifiers.org/hgnc/3497 disease_has_basis_in_dysfunction_of MONDO:0008674 WHIM syndrome DOID DOID:0060591 one_to_one MONDO:0008674 WHIM syndrome GARD GARD:0009297 one_to_one MONDO:0008674 WHIM syndrome ICD10 ICD10:D81.8 inexact @@ -49566,6 +50357,7 @@ MONDO:0008674 WHIM syndrome OMIM OMIM:193670 one_to_one MONDO:0008674 WHIM syndrome Orphanet Orphanet:51636 one_to_one MONDO:0008674 WHIM syndrome SCTID SCTID:234571003 one_to_one MONDO:0008674 WHIM syndrome UMLS UMLS:C0472817 one_to_one +MONDO:0008674 WHIM syndrome http http://identifiers.org/hgnc/2561 disease_has_basis_in_dysfunction_of MONDO:0008675 freeman-Sheldon syndrome GARD GARD:0006466 one_to_one MONDO:0008675 freeman-Sheldon syndrome ICD10 ICD10:Q87.0 inexact MONDO:0008675 freeman-Sheldon syndrome MESH MESH:C535483 one_to_one @@ -49574,9 +50366,11 @@ MONDO:0008675 freeman-Sheldon syndrome NCIT NCIT:C98931 one_to_one MONDO:0008675 freeman-Sheldon syndrome OMIM OMIM:193700 one_to_one MONDO:0008675 freeman-Sheldon syndrome Orphanet Orphanet:2053 one_to_one MONDO:0008675 freeman-Sheldon syndrome UMLS UMLS:C0265224 one_to_one +MONDO:0008675 freeman-Sheldon syndrome http http://identifiers.org/hgnc/7573 disease_has_basis_in_dysfunction_of MONDO:0008676 white sponge nevus 1 MONDO MONDO:0015748 subclass MONDO:0008676 white sponge nevus 1 OMIM OMIM:193900 one_to_one MONDO:0008676 white sponge nevus 1 UMLS UMLS:C4011926 one_to_one +MONDO:0008676 white sponge nevus 1 http http://identifiers.org/hgnc/6441 disease_has_basis_in_dysfunction_of MONDO:0008677 widow's peak (disease) HP HP:0000349 one_to_one MONDO:0008677 widow's peak (disease) MONDO MONDO:0003847 subclass MONDO:0008677 widow's peak (disease) OMIM OMIM:194000 one_to_one @@ -49594,13 +50388,16 @@ MONDO:0008678 Williams syndrome OMIM OMIM:194050 one_to_one MONDO:0008678 Williams syndrome Orphanet Orphanet:904 one_to_one MONDO:0008678 Williams syndrome SCTID SCTID:63247009 one_to_one MONDO:0008678 Williams syndrome UMLS UMLS:C0175702 one_to_one +MONDO:0008678 Williams syndrome http http://identifiers.org/hgnc/12744,http://identifiers.org/hgnc/3327 disease_has_basis_in_dysfunction_of MONDO:0008679 Wilms tumor type 1 MONDO MONDO:0019004 subclass MONDO:0008679 Wilms tumor type 1 OMIM OMIM:194070 one_to_one MONDO:0008679 Wilms tumor type 1 UMLS UMLS:CN033288 one_to_one +MONDO:0008679 Wilms tumor type 1 http http://identifiers.org/hgnc/1101,http://identifiers.org/hgnc/12796,http://identifiers.org/hgnc/4451,http://identifiers.org/hgnc/4452,http://identifiers.org/hgnc/4713,http://identifiers.org/hgnc/5466 disease_has_basis_in_dysfunction_of MONDO:0008680 Wilms tumor 2 GARD GARD:0008559 one_to_one MONDO:0008680 Wilms tumor 2 MESH MESH:C536853 one_to_one MONDO:0008680 Wilms tumor 2 MONDO MONDO:0002254,MONDO:0019004 subclass MONDO:0008680 Wilms tumor 2 OMIM OMIM:194071 one_to_one +MONDO:0008680 Wilms tumor 2 http http://identifiers.org/hgnc/4713 disease_has_basis_in_dysfunction_of MONDO:0008681 WAGR syndrome DOID DOID:14515 one_to_one MONDO:0008681 WAGR syndrome GARD GARD:0001732,GARD:0005528 inexact MONDO:0008681 WAGR syndrome HP HP:0000526,HP:0001249 disease_has_feature @@ -49613,6 +50410,7 @@ MONDO:0008681 WAGR syndrome OMIM OMIM:194072 one_to_one MONDO:0008681 WAGR syndrome Orphanet Orphanet:893 one_to_one MONDO:0008681 WAGR syndrome SCTID SCTID:715215007 one_to_one MONDO:0008681 WAGR syndrome UMLS UMLS:C0206115,UMLS:C2931803 inexact +MONDO:0008681 WAGR syndrome http http://identifiers.org/hgnc/12796,http://identifiers.org/hgnc/8620 disease_has_basis_in_dysfunction_of MONDO:0008682 Denys-Drash syndrome DOID DOID:3764 one_to_one MONDO:0008682 Denys-Drash syndrome GARD GARD:0005576 one_to_one MONDO:0008682 Denys-Drash syndrome HP HP:0000037,HP:0001967 disease_has_feature @@ -49626,6 +50424,7 @@ MONDO:0008682 Denys-Drash syndrome OMIM OMIM:194080 one_to_one MONDO:0008682 Denys-Drash syndrome Orphanet Orphanet:220 one_to_one MONDO:0008682 Denys-Drash syndrome SCTID SCTID:236385009 one_to_one MONDO:0008682 Denys-Drash syndrome UMLS UMLS:C0950121,UMLS:C3151568 inexact +MONDO:0008682 Denys-Drash syndrome http http://identifiers.org/hgnc/12796 disease_has_basis_in_dysfunction_of MONDO:0008683 Wilms tumor 3 MESH MESH:C565991 one_to_one MONDO:0008683 Wilms tumor 3 MONDO MONDO:0019004 subclass MONDO:0008683 Wilms tumor 3 OMIM OMIM:194090 one_to_one @@ -49641,6 +50440,7 @@ MONDO:0008684 Wolf-Hirschhorn syndrome OMIM OMIM:194190 one_to_one MONDO:0008684 Wolf-Hirschhorn syndrome Orphanet Orphanet:280 one_to_one MONDO:0008684 Wolf-Hirschhorn syndrome SCTID SCTID:718226002 one_to_one MONDO:0008684 Wolf-Hirschhorn syndrome UMLS UMLS:C0796117,UMLS:C0796202,UMLS:C1956097,UMLS:CN207113 inexact +MONDO:0008684 Wolf-Hirschhorn syndrome http http://identifiers.org/hgnc/12764,http://identifiers.org/hgnc/12766,http://identifiers.org/hgnc/2309,http://identifiers.org/hgnc/2494,http://identifiers.org/hgnc/3693,http://identifiers.org/hgnc/6556 disease_has_basis_in_dysfunction_of MONDO:0008685 Wolff-Parkinson-white syndrome (disease) COHD COHD:313224 one_to_one MONDO:0008685 Wolff-Parkinson-white syndrome (disease) DOID DOID:384 one_to_one MONDO:0008685 Wolff-Parkinson-white syndrome (disease) EFO EFO:1001450 one_to_one @@ -49651,6 +50451,7 @@ MONDO:0008685 Wolff-Parkinson-white syndrome (disease) MONDO MONDO:0000992,MONDO MONDO:0008685 Wolff-Parkinson-white syndrome (disease) NCIT NCIT:C35132 one_to_one MONDO:0008685 Wolff-Parkinson-white syndrome (disease) OMIM OMIM:194200 one_to_one MONDO:0008685 Wolff-Parkinson-white syndrome (disease) SCTID SCTID:17869006 one_to_one +MONDO:0008685 Wolff-Parkinson-white syndrome (disease) http http://identifiers.org/hgnc/9386 disease_has_basis_in_dysfunction_of MONDO:0008686 woolly hair (disease) GARD GARD:0005597 one_to_one MONDO:0008686 woolly hair (disease) HP HP:0002224 one_to_one MONDO:0008686 woolly hair (disease) ICD10 ICD10:Q84.1 inexact @@ -49661,6 +50462,7 @@ MONDO:0008686 woolly hair (disease) OMIM OMIM:194300 one_to_one MONDO:0008686 woolly hair (disease) Orphanet Orphanet:170 one_to_one MONDO:0008686 woolly hair (disease) SCTID SCTID:52564001 one_to_one MONDO:0008686 woolly hair (disease) UMLS UMLS:CN200245 one_to_one +MONDO:0008686 woolly hair (disease) http http://identifiers.org/hgnc/28929 disease_has_basis_in_dysfunction_of MONDO:0008687 Woronets trait MONDO MONDO:0003847 subclass MONDO:0008687 Woronets trait OMIM OMIM:194320 one_to_one MONDO:0008688 WT limb-blood syndrome GARD GARD:0000039 one_to_one @@ -49674,6 +50476,7 @@ MONDO:0008688 WT limb-blood syndrome UMLS UMLS:C1327917 one_to_one MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema GARD GARD:0010676 one_to_one MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema MONDO MONDO:0017910 subclass MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema OMIM OMIM:194380 one_to_one +MONDO:0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema http http://identifiers.org/hgnc/28993 disease_has_basis_in_dysfunction_of MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild MESH MESH:C565989 one_to_one MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild MONDO MONDO:0019600 subclass MONDO:0008690 xeroderma pigmentosum, autosomal dominant, mild OMIM OMIM:194400 one_to_one @@ -49690,6 +50493,7 @@ MONDO:0008692 abetalipoproteinemia OMIM OMIM:200100 one_to_one MONDO:0008692 abetalipoproteinemia Orphanet Orphanet:14 one_to_one MONDO:0008692 abetalipoproteinemia SCTID SCTID:190787008 one_to_one MONDO:0008692 abetalipoproteinemia UMLS UMLS:C0000744 one_to_one +MONDO:0008692 abetalipoproteinemia http http://identifiers.org/hgnc/7467 disease_has_basis_in_dysfunction_of MONDO:0008693 ablepharon macrostomia syndrome DOID DOID:0060550 one_to_one MONDO:0008693 ablepharon macrostomia syndrome GARD GARD:0000003 one_to_one MONDO:0008693 ablepharon macrostomia syndrome ICD10 ICD10:Q87.0 inexact @@ -49699,6 +50503,7 @@ MONDO:0008693 ablepharon macrostomia syndrome OMIM OMIM:200110 one_to_one MONDO:0008693 ablepharon macrostomia syndrome Orphanet Orphanet:920 one_to_one MONDO:0008693 ablepharon macrostomia syndrome SCTID SCTID:718575002 one_to_one MONDO:0008693 ablepharon macrostomia syndrome UMLS UMLS:C1860224 one_to_one +MONDO:0008693 ablepharon macrostomia syndrome http http://identifiers.org/hgnc/20670 disease_has_basis_in_dysfunction_of 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 @@ -49711,10 +50516,11 @@ MONDO:0008695 chorea-acanthocytosis GARD GARD:0003956 one_to_one MONDO:0008695 chorea-acanthocytosis HP HP:0002072 disease_has_feature MONDO:0008695 chorea-acanthocytosis ICD10 ICD10:E78.6 inexact MONDO:0008695 chorea-acanthocytosis ICD9 ICD9:333.0 inexact -MONDO:0008695 chorea-acanthocytosis MONDO MONDO:0015955,MONDO:0016133,MONDO:0016406,MONDO:0016987,MONDO:0019058,MONDO:0019274,MONDO:0019275,MONDO:0024237 subclass +MONDO:0008695 chorea-acanthocytosis MONDO MONDO:0015955,MONDO:0016133,MONDO:0016406,MONDO:0016987,MONDO:0019052,MONDO:0019058,MONDO:0019274,MONDO:0019275,MONDO:0020142,MONDO:0024237 subclass MONDO:0008695 chorea-acanthocytosis OMIM OMIM:200150 one_to_one MONDO:0008695 chorea-acanthocytosis Orphanet Orphanet:2388 one_to_one MONDO:0008695 chorea-acanthocytosis SCTID SCTID:66881004 one_to_one +MONDO:0008695 chorea-acanthocytosis http http://identifiers.org/hgnc/1908 disease_has_basis_in_dysfunction_of MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome GARD GARD:0000453 one_to_one MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MESH MESH:C536000 one_to_one MONDO:0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO MONDO:0015885,MONDO:0015967,MONDO:0019274,MONDO:0019275,MONDO:0043003 subclass @@ -49749,6 +50555,7 @@ MONDO:0008700 acheiropody MONDO MONDO:0005516,MONDO:0017421 subclass MONDO:0008700 acheiropody OMIM OMIM:200500 one_to_one MONDO:0008700 acheiropody Orphanet Orphanet:931 one_to_one MONDO:0008700 acheiropody SCTID SCTID:177504007 one_to_one +MONDO:0008700 acheiropody http http://identifiers.org/hgnc/13243 disease_has_basis_in_dysfunction_of MONDO:0008701 achondrogenesis type IA DOID DOID:0080054 one_to_one MONDO:0008701 achondrogenesis type IA GARD GARD:0000459 one_to_one MONDO:0008701 achondrogenesis type IA ICD10 ICD10:Q77.0 inexact @@ -49758,12 +50565,13 @@ MONDO:0008701 achondrogenesis type IA MONDO MONDO:0019648 subclass MONDO:0008701 achondrogenesis type IA OMIM OMIM:200600 one_to_one MONDO:0008701 achondrogenesis type IA Orphanet Orphanet:93299 one_to_one MONDO:0008701 achondrogenesis type IA SCTID SCTID:42725006 one_to_one +MONDO:0008701 achondrogenesis type IA http http://identifiers.org/hgnc/12305 disease_has_basis_in_dysfunction_of MONDO:0008702 achondrogenesis type II DOID DOID:0080056 one_to_one MONDO:0008702 achondrogenesis type II GARD GARD:0008713 one_to_one MONDO:0008702 achondrogenesis type II HP HP:0001789,HP:0011220 disease_has_feature MONDO:0008702 achondrogenesis type II ICD10 ICD10:Q77.0 inexact MONDO:0008702 achondrogenesis type II MESH MESH:C536017 one_to_one -MONDO:0008702 achondrogenesis type II MONDO MONDO:0015960,MONDO:0019648,MONDO:0019686 subclass +MONDO:0008702 achondrogenesis type II MONDO MONDO:0015960,MONDO:0019648,MONDO:0019686,MONDO:0022800 subclass MONDO:0008702 achondrogenesis type II OMIM OMIM:200610 one_to_one MONDO:0008702 achondrogenesis type II Orphanet Orphanet:93296 one_to_one MONDO:0008703 acromesomelic dysplasia, Grebe type DOID DOID:0080052 one_to_one @@ -49775,6 +50583,7 @@ MONDO:0008703 acromesomelic dysplasia, Grebe type NCIT NCIT:C3816 one_to_one MONDO:0008703 acromesomelic dysplasia, Grebe type OMIM OMIM:200700 one_to_one MONDO:0008703 acromesomelic dysplasia, Grebe type Orphanet Orphanet:2098 one_to_one MONDO:0008703 acromesomelic dysplasia, Grebe type UMLS UMLS:C0265260 one_to_one +MONDO:0008703 acromesomelic dysplasia, Grebe type http http://identifiers.org/hgnc/4220 disease_has_basis_in_dysfunction_of MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency GARD GARD:0000463,GARD:0002988 inexact MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency ICD10 ICD10:D82.2 one_to_one MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency MESH MESH:C565984 one_to_one @@ -49782,14 +50591,15 @@ MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficienc MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency OMIM OMIM:200900 one_to_one MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency Orphanet Orphanet:935 one_to_one MONDO:0008704 short-limb skeletal dysplasia with severe combined immunodeficiency UMLS UMLS:C1860168 one_to_one -MONDO:0008705 acid phosphatase deficiency ICD10 ICD10:E83.3 inexact -MONDO:0008705 acid phosphatase deficiency ICD9 ICD9:277.6 inexact -MONDO:0008705 acid phosphatase deficiency MESH MESH:C562645 one_to_one -MONDO:0008705 acid phosphatase deficiency MONDO MONDO:0002561 subclass -MONDO:0008705 acid phosphatase deficiency OMIM OMIM:200950 one_to_one -MONDO:0008705 acid phosphatase deficiency Orphanet Orphanet:35121 one_to_one -MONDO:0008705 acid phosphatase deficiency SCTID SCTID:57863006 one_to_one -MONDO:0008705 acid phosphatase deficiency UMLS UMLS:C0268410 one_to_one +MONDO:0008705 lysosomal acid phosphatase deficiency ICD10 ICD10:E83.3 inexact +MONDO:0008705 lysosomal acid phosphatase deficiency ICD9 ICD9:277.6 inexact +MONDO:0008705 lysosomal acid phosphatase deficiency MESH MESH:C562645 one_to_one +MONDO:0008705 lysosomal acid phosphatase deficiency MONDO MONDO:0002561 subclass +MONDO:0008705 lysosomal acid phosphatase deficiency OMIM OMIM:200950 one_to_one +MONDO:0008705 lysosomal acid phosphatase deficiency Orphanet Orphanet:35121 one_to_one +MONDO:0008705 lysosomal acid phosphatase deficiency SCTID SCTID:57863006 one_to_one +MONDO:0008705 lysosomal acid phosphatase deficiency UMLS UMLS:C0268410 one_to_one +MONDO:0008705 lysosomal acid phosphatase deficiency http http://identifiers.org/hgnc/123 disease_has_basis_in_dysfunction_of MONDO:0008706 Ackerman syndrome GARD GARD:0000469 one_to_one MONDO:0008706 Ackerman syndrome ICD10 ICD10:K00.2 inexact MONDO:0008706 Ackerman syndrome MESH MESH:C538170 one_to_one @@ -49817,6 +50627,7 @@ MONDO:0008708 acrocallosal syndrome OMIM OMIM:200990 one_to_one MONDO:0008708 acrocallosal syndrome Orphanet Orphanet:36 one_to_one MONDO:0008708 acrocallosal syndrome SCTID SCTID:715951007 one_to_one MONDO:0008708 acrocallosal syndrome UMLS UMLS:C0796147 one_to_one +MONDO:0008708 acrocallosal syndrome http http://identifiers.org/hgnc/30497 disease_has_basis_in_dysfunction_of MONDO:0008709 acrocephalopolydactyly GARD GARD:0000486,GARD:0002096 inexact MONDO:0008709 acrocephalopolydactyly ICD10 ICD10:Q87.0 inexact MONDO:0008709 acrocephalopolydactyly MESH MESH:C573722 one_to_one @@ -49828,6 +50639,7 @@ MONDO:0008709 acrocephalopolydactyly UMLS UMLS:C3495588,UMLS:CN201238 inexact MONDO:0008710 Carpenter syndrome 1 MONDO MONDO:0019012 subclass MONDO:0008710 Carpenter syndrome 1 OMIM OMIM:201000 one_to_one MONDO:0008710 Carpenter syndrome 1 SCTID SCTID:205813009 one_to_one +MONDO:0008710 Carpenter syndrome 1 http http://identifiers.org/hgnc/14263 disease_has_basis_in_dysfunction_of MONDO:0008711 Goodman syndrome GARD GARD:0002549 one_to_one MONDO:0008711 Goodman syndrome ICD10 ICD10:Q87.0 inexact MONDO:0008711 Goodman syndrome MESH MESH:C537287 one_to_one @@ -49856,6 +50668,7 @@ MONDO:0008713 acrodermatitis enteropathica OMIM OMIM:201100 one_to_one MONDO:0008713 acrodermatitis enteropathica Orphanet Orphanet:37 one_to_one MONDO:0008713 acrodermatitis enteropathica SCTID SCTID:37702000 one_to_one MONDO:0008713 acrodermatitis enteropathica UMLS UMLS:C0221036 one_to_one +MONDO:0008713 acrodermatitis enteropathica http http://identifiers.org/hgnc/17129 disease_has_basis_in_dysfunction_of 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 @@ -49889,6 +50702,7 @@ MONDO:0008717 acromesomelic dysplasia, Hunter-Thompson type ICD10 ICD10:Q78.8 in MONDO:0008717 acromesomelic dysplasia, Hunter-Thompson type MONDO MONDO:0019696 subclass MONDO:0008717 acromesomelic dysplasia, Hunter-Thompson type OMIM OMIM:201250 one_to_one MONDO:0008717 acromesomelic dysplasia, Hunter-Thompson type Orphanet Orphanet:968 one_to_one +MONDO:0008717 acromesomelic dysplasia, Hunter-Thompson type http http://identifiers.org/hgnc/4220 disease_has_basis_in_dysfunction_of MONDO:0008718 Morvan syndrome EFO EFO:1001897 one_to_one MONDO:0008718 Morvan syndrome GARD GARD:0009766 one_to_one MONDO:0008718 Morvan syndrome ICD10 ICD10:G60.8 inexact @@ -49913,27 +50727,30 @@ MONDO:0008720 adrenocorticotropic hormone deficiency (disease) OMIM OMIM:201400 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: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 MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency ICD10 ICD10:E71.3,ICD10:E71.311 inexact MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency ICD9 ICD9:277.85 inexact MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MESH MESH:C536038 one_to_one -MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO MONDO:0003847,MONDO:0017714,MONDO:0021196 subclass +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency MONDO MONDO:0003847,MONDO:0017714,MONDO:0044976 subclass MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency NCIT NCIT:C84538 one_to_one MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency OMIM OMIM:201450 one_to_one MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency Orphanet Orphanet:42 one_to_one MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency SCTID SCTID:128596003 one_to_one MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency UMLS UMLS:C0220710 one_to_one +MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency http http://identifiers.org/hgnc/89 disease_has_basis_in_dysfunction_of MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency DOID DOID:0080154 one_to_one MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency GARD GARD:0004822 one_to_one 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:0021196 subclass +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 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 +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency http http://identifiers.org/hgnc/90 disease_has_basis_in_dysfunction_of MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency DOID DOID:0080155 one_to_one MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency GARD GARD:0005508 one_to_one MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency GO GO:0017099 disease_has_basis_in_disruption_of @@ -49944,6 +50761,7 @@ MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency OMIM OMIM:201475 MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency Orphanet Orphanet:26793 one_to_one MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency SCTID SCTID:237997005 one_to_one MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency UMLS UMLS:C3887523 one_to_one +MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency http http://identifiers.org/hgnc/92 disease_has_basis_in_dysfunction_of MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type ICD10 ICD10:Q74.8 inexact MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type MONDO MONDO:0015168,MONDO:0015501 subclass MONDO:0008724 adducted thumbs-arthrogryposis syndrome, Christian type OMIM OMIM:201550 one_to_one @@ -49955,24 +50773,30 @@ MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency OMIM O MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency Orphanet Orphanet:90790 one_to_one MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency SCTID SCTID:44231009 one_to_one MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency UMLS UMLS:C0342474 one_to_one +MONDO:0008725 congenital lipoid adrenal hyperplasia due to STAR deficency http http://identifiers.org/hgnc/11359 disease_has_basis_in_dysfunction_of MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO MONDO:0008803 subclass MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis OMIM OMIM:201750 one_to_one +MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis Orphanet Orphanet:63269 one_to_one MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis UMLS UMLS:C3150099 one_to_one MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency GARD GARD:0009152 one_to_one MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency ICD10 ICD10:E25.0 inexact MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MESH MESH:C538236 one_to_one MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency MONDO MONDO:0018479,MONDO:0019593,MONDO:0019595 subclass +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency NCIT NCIT:C131088 one_to_one MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency OMIM OMIM:201810 one_to_one MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Orphanet Orphanet:90791 one_to_one MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency SCTID SCTID:54470008 one_to_one +MONDO:0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency http http://identifiers.org/hgnc/5218 disease_has_basis_in_dysfunction_of MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency GARD GARD:0005757,GARD:0012665 inexact MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency GO GO:0004509 disease_has_basis_in_disruption_of MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ICD10 ICD10:E25.0 inexact -MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO MONDO:0015327,MONDO:0018387,MONDO:0018406,MONDO:0018412,MONDO:0018479,MONDO:0019593,MONDO:0021196 subclass +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency MONDO MONDO:0015327,MONDO:0018387,MONDO:0018406,MONDO:0018412,MONDO:0018479,MONDO:0019593,MONDO:0044976 subclass +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency NCIT NCIT:C131087 one_to_one MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency OMIM OMIM:201910 one_to_one MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Orphanet Orphanet:90794 one_to_one MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency SCTID SCTID:717261006 one_to_one MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency UMLS UMLS:C4273964 one_to_one +MONDO:0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency http http://identifiers.org/hgnc/2600 disease_has_basis_in_dysfunction_of MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency GARD GARD:0005658 one_to_one MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ICD10 ICD10:E25.0 inexact MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency ICD9 ICD9:277.6 inexact @@ -49984,6 +50808,7 @@ MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficien MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Orphanet Orphanet:90795 one_to_one MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency SCTID SCTID:124214007 one_to_one MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency UMLS UMLS:C0268292 one_to_one +MONDO:0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency http http://identifiers.org/hgnc/2591 disease_has_basis_in_dysfunction_of MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency GARD GARD:0001469 one_to_one MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ICD10 ICD10:E25.0 inexact MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency ICD9 ICD9:277.6 inexact @@ -49991,6 +50816,7 @@ MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficie MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency OMIM OMIM:202110 one_to_one MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Orphanet Orphanet:90793 one_to_one MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency SCTID SCTID:124220008 one_to_one +MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency http http://identifiers.org/hgnc/2593 disease_has_basis_in_dysfunction_of MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone ICD10 ICD10:E27.1 inexact MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MESH MESH:C565976 one_to_one MONDO:0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone MONDO MONDO:0015129,MONDO:0015891,MONDO:0015971,MONDO:0020042 subclass @@ -50010,6 +50836,7 @@ MONDO:0008734 adrenocortical carcinoma, hereditary MONDO MONDO:0021152 has_modif MONDO:0008734 adrenocortical carcinoma, hereditary MONDO MONDO:0003008,MONDO:0006054,MONDO:0006639,MONDO:0015971,MONDO:0018406,MONDO:0018729 subclass MONDO:0008734 adrenocortical carcinoma, hereditary OMIM OMIM:202300 one_to_one MONDO:0008734 adrenocortical carcinoma, hereditary UMLS UMLS:C1859972 one_to_one +MONDO:0008734 adrenocortical carcinoma, hereditary http http://identifiers.org/hgnc/11998 disease_has_basis_in_dysfunction_of MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect MESH MESH:C565971 one_to_one MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect MONDO MONDO:0008733 subclass MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect OMIM OMIM:202355 one_to_one @@ -50017,11 +50844,13 @@ MONDO:0008735 adrenocortical unresponsiveness to ACTH with postreceptor defect U MONDO:0008736 peroxisome biogenesis disorder 2B MONDO MONDO:0018598,MONDO:0019174 subclass MONDO:0008736 peroxisome biogenesis disorder 2B OMIM OMIM:202370 one_to_one MONDO:0008736 peroxisome biogenesis disorder 2B UMLS UMLS:C3550234 one_to_one +MONDO:0008736 peroxisome biogenesis disorder 2B http http://identifiers.org/hgnc/9719 disease_has_basis_in_dysfunction_of MONDO:0008737 congenital afibrinogenemia DOID DOID:2236 one_to_one MONDO:0008737 congenital afibrinogenemia GARD GARD:0005761 one_to_one MONDO:0008737 congenital afibrinogenemia ICD10 ICD10:D68.2 inexact MONDO:0008737 congenital afibrinogenemia MESH MESH:D000347 one_to_one MONDO:0008737 congenital afibrinogenemia MONDO MONDO:0002243,MONDO:0014452 subclass +MONDO:0008737 congenital afibrinogenemia NCIT NCIT:C98130 one_to_one MONDO:0008737 congenital afibrinogenemia OMIM OMIM:202400 one_to_one MONDO:0008737 congenital afibrinogenemia Orphanet Orphanet:98880 one_to_one MONDO:0008738 aganglionosis, total intestinal MONDO MONDO:0003847,MONDO:0018309 subclass @@ -50039,6 +50868,7 @@ MONDO:0008740 agnathia-otocephaly complex OMIM OMIM:202650 one_to_one MONDO:0008740 agnathia-otocephaly complex Orphanet Orphanet:990 one_to_one MONDO:0008740 agnathia-otocephaly complex SCTID SCTID:48180002 one_to_one MONDO:0008740 agnathia-otocephaly complex UMLS UMLS:CN207252 one_to_one +MONDO:0008740 agnathia-otocephaly complex http http://identifiers.org/hgnc/9142 disease_has_basis_in_dysfunction_of MONDO:0008741 PAGOD syndrome GARD GARD:0003086 one_to_one MONDO:0008741 PAGOD syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008741 PAGOD syndrome MESH MESH:C537018 one_to_one @@ -50053,6 +50883,7 @@ MONDO:0008742 autosomal dominant severe congenital neutropenia ICD10 ICD10:D70 i MONDO:0008742 autosomal dominant severe congenital neutropenia MONDO MONDO:0000426,MONDO:0018542 subclass MONDO:0008742 autosomal dominant severe congenital neutropenia Orphanet Orphanet:486 one_to_one MONDO:0008742 autosomal dominant severe congenital neutropenia UMLS UMLS:C1859966 one_to_one +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 @@ -50069,10 +50900,11 @@ MONDO:0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome UMLS UMLS MONDO:0008745 oculocutaneous albinism type 1A DOID DOID:0070094 one_to_one MONDO:0008745 oculocutaneous albinism type 1A ICD10 ICD10:E70.3 inexact MONDO:0008745 oculocutaneous albinism type 1A ICD9 ICD9:270.2 inexact -MONDO:0008745 oculocutaneous albinism type 1A MONDO MONDO:0018135,MONDO:0040653 subclass +MONDO:0008745 oculocutaneous albinism type 1A MONDO MONDO:0018135,MONDO:0018910,MONDO:0040653 subclass MONDO:0008745 oculocutaneous albinism type 1A OMIM OMIM:203100 one_to_one MONDO:0008745 oculocutaneous albinism type 1A Orphanet Orphanet:79431 one_to_one MONDO:0008745 oculocutaneous albinism type 1A SCTID SCTID:6483008 one_to_one +MONDO:0008745 oculocutaneous albinism type 1A http http://identifiers.org/hgnc/12442 disease_has_basis_in_dysfunction_of MONDO:0008746 oculocutaneous albinism type 2 DOID DOID:0070096 one_to_one MONDO:0008746 oculocutaneous albinism type 2 GARD GARD:0004038 one_to_one MONDO:0008746 oculocutaneous albinism type 2 ICD10 ICD10:E70.3 inexact @@ -50081,6 +50913,7 @@ MONDO:0008746 oculocutaneous albinism type 2 MONDO MONDO:0018910 subclass MONDO:0008746 oculocutaneous albinism type 2 OMIM OMIM:203200 one_to_one MONDO:0008746 oculocutaneous albinism type 2 Orphanet Orphanet:79432 one_to_one MONDO:0008746 oculocutaneous albinism type 2 UMLS UMLS:C0268495 one_to_one +MONDO:0008746 oculocutaneous albinism type 2 http http://identifiers.org/hgnc/6929,http://identifiers.org/hgnc/8101 disease_has_basis_in_dysfunction_of MONDO:0008747 oculocutaneous albinism type 3 DOID DOID:0070097 one_to_one MONDO:0008747 oculocutaneous albinism type 3 GARD GARD:0004039,GARD:0009641 inexact MONDO:0008747 oculocutaneous albinism type 3 ICD10 ICD10:E70.3 inexact @@ -50090,13 +50923,14 @@ MONDO:0008747 oculocutaneous albinism type 3 MONDO MONDO:0018910 subclass MONDO:0008747 oculocutaneous albinism type 3 OMIM OMIM:203290 one_to_one MONDO:0008747 oculocutaneous albinism type 3 Orphanet Orphanet:79433 one_to_one MONDO:0008747 oculocutaneous albinism type 3 SCTID SCTID:63450009 one_to_one +MONDO:0008747 oculocutaneous albinism type 3 http http://identifiers.org/hgnc/12450 disease_has_basis_in_dysfunction_of MONDO:0008748 Hermansky-Pudlak syndrome 1 DOID DOID:0060539 one_to_one MONDO:0008748 Hermansky-Pudlak syndrome 1 MESH MESH:C538539 one_to_one MONDO:0008748 Hermansky-Pudlak syndrome 1 MONDO MONDO:0016501,MONDO:0019312 subclass -MONDO:0008748 Hermansky-Pudlak syndrome 1 NCBIGene NCBIGene:3257 disease_has_basis_in_dysfunction_of MONDO:0008748 Hermansky-Pudlak syndrome 1 NCIT NCIT:C150367 one_to_one MONDO:0008748 Hermansky-Pudlak syndrome 1 OMIM OMIM:203300 one_to_one MONDO:0008748 Hermansky-Pudlak syndrome 1 UMLS UMLS:C2931875 one_to_one +MONDO:0008748 Hermansky-Pudlak syndrome 1 http http://identifiers.org/hgnc/5163 disease_has_basis_in_dysfunction_of MONDO:0008749 pseudohypoparathyroidism type 2 GARD GARD:0010682 one_to_one MONDO:0008749 pseudohypoparathyroidism type 2 ICD10 ICD10:E20.1 inexact MONDO:0008749 pseudohypoparathyroidism type 2 ICD9 ICD9:275.49 inexact @@ -50118,6 +50952,7 @@ MONDO:0008751 corticosterone methyloxidase type 1 deficiency GARD GARD:0005660 o MONDO:0008751 corticosterone methyloxidase type 1 deficiency MONDO MONDO:0020489 subclass MONDO:0008751 corticosterone methyloxidase type 1 deficiency OMIM OMIM:203400 one_to_one MONDO:0008751 corticosterone methyloxidase type 1 deficiency UMLS UMLS:CN074214 one_to_one +MONDO:0008751 corticosterone methyloxidase type 1 deficiency http http://identifiers.org/hgnc/2592 disease_has_basis_in_dysfunction_of MONDO:0008752 Alexander disease DOID DOID:4252 one_to_one MONDO:0008752 Alexander disease GARD GARD:0005774 one_to_one MONDO:0008752 Alexander disease ICD10 ICD10:E75.2 inexact @@ -50128,6 +50963,7 @@ MONDO:0008752 Alexander disease OMIM OMIM:203450 one_to_one MONDO:0008752 Alexander disease Orphanet Orphanet:58 one_to_one MONDO:0008752 Alexander disease SCTID SCTID:81854007 one_to_one MONDO:0008752 Alexander disease UMLS UMLS:C0270726 one_to_one +MONDO:0008752 Alexander disease http http://identifiers.org/hgnc/4235 disease_has_basis_in_dysfunction_of MONDO:0008753 alkaptonuria DOID DOID:9270 one_to_one MONDO:0008753 alkaptonuria GARD GARD:0005775 one_to_one MONDO:0008753 alkaptonuria ICD10 ICD10:E70.2,ICD10:E70.29 inexact @@ -50140,6 +50976,7 @@ MONDO:0008753 alkaptonuria OMIM OMIM:203500 one_to_one MONDO:0008753 alkaptonuria Orphanet Orphanet:56 one_to_one MONDO:0008753 alkaptonuria SCTID SCTID:360378009 one_to_one MONDO:0008753 alkaptonuria UMLS UMLS:C0002066,UMLS:C2931645 inexact +MONDO:0008753 alkaptonuria http http://identifiers.org/hgnc/4892 disease_has_basis_in_dysfunction_of 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 @@ -50164,7 +51001,7 @@ MONDO:0008757 alopecia universalis GARD GARD:0000614 one_to_one MONDO:0008757 alopecia universalis ICD10 ICD10:L63.1 one_to_one MONDO:0008757 alopecia universalis ICD9 ICD9:704.09 inexact MONDO:0008757 alopecia universalis MESH MESH:C537055 one_to_one -MONDO:0008757 alopecia universalis MONDO MONDO:0000005,MONDO:0015984,MONDO:0021034 subclass +MONDO:0008757 alopecia universalis MONDO MONDO:0000005,MONDO:0007806,MONDO:0015984,MONDO:0021034 subclass MONDO:0008757 alopecia universalis MedDRA MedDRA:10001767 one_to_one MONDO:0008757 alopecia universalis OMIM OMIM:203655 one_to_one MONDO:0008757 alopecia universalis Orphanet Orphanet:701 one_to_one @@ -50182,6 +51019,7 @@ MONDO:0008758 mitochondrial DNA depletion syndrome 4a OMIM OMIM:203700 one_to_on MONDO:0008758 mitochondrial DNA depletion syndrome 4a Orphanet Orphanet:726 one_to_one MONDO:0008758 mitochondrial DNA depletion syndrome 4a SCTID SCTID:20415001 one_to_one MONDO:0008758 mitochondrial DNA depletion syndrome 4a UMLS UMLS:C0205710 one_to_one +MONDO:0008758 mitochondrial DNA depletion syndrome 4a http http://identifiers.org/hgnc/9179 disease_has_basis_in_dysfunction_of MONDO:0008759 Oxoglutaricaciduria GARD GARD:0000617 one_to_one MONDO:0008759 Oxoglutaricaciduria ICD10 ICD10:E88.8 inexact MONDO:0008759 Oxoglutaricaciduria MESH MESH:C536582 one_to_one @@ -50189,6 +51027,7 @@ MONDO:0008759 Oxoglutaricaciduria MONDO MONDO:0016402,MONDO:0016403,MONDO:001679 MONDO:0008759 Oxoglutaricaciduria OMIM OMIM:203740 one_to_one MONDO:0008759 Oxoglutaricaciduria Orphanet Orphanet:31 one_to_one MONDO:0008759 Oxoglutaricaciduria UMLS UMLS:C2752074 one_to_one +MONDO:0008759 Oxoglutaricaciduria http http://identifiers.org/hgnc/8124 disease_has_basis_in_dysfunction_of MONDO:0008760 beta-ketothiolase deficiency DOID DOID:14723 one_to_one MONDO:0008760 beta-ketothiolase deficiency GARD GARD:0000872 one_to_one MONDO:0008760 beta-ketothiolase deficiency ICD10 ICD10:E71.1 inexact @@ -50197,6 +51036,7 @@ MONDO:0008760 beta-ketothiolase deficiency MONDO MONDO:0006025,MONDO:0019215,MON MONDO:0008760 beta-ketothiolase deficiency NCIT NCIT:C98841 one_to_one MONDO:0008760 beta-ketothiolase deficiency OMIM OMIM:203750 one_to_one MONDO:0008760 beta-ketothiolase deficiency Orphanet Orphanet:134 one_to_one +MONDO:0008760 beta-ketothiolase deficiency http http://identifiers.org/hgnc/93 disease_has_basis_in_dysfunction_of MONDO:0008761 alpha-2-deficient collagen disease GARD GARD:0003454 one_to_one MONDO:0008761 alpha-2-deficient collagen disease MESH MESH:C565963 one_to_one MONDO:0008761 alpha-2-deficient collagen disease MONDO MONDO:0003847 subclass @@ -50211,6 +51051,7 @@ MONDO:0008762 autosomal recessive Alport syndrome MedDRA MedDRA:10001843 inexact MONDO:0008762 autosomal recessive Alport syndrome OMIM OMIM:203780 one_to_one MONDO:0008762 autosomal recessive Alport syndrome Orphanet Orphanet:88919 one_to_one MONDO:0008762 autosomal recessive Alport syndrome SCTID SCTID:717767009 one_to_one +MONDO:0008762 autosomal recessive Alport syndrome http http://identifiers.org/hgnc/2204,http://identifiers.org/hgnc/2206 disease_has_basis_in_dysfunction_of MONDO:0008763 Alstrom syndrome DOID DOID:0050473 one_to_one MONDO:0008763 Alstrom syndrome GARD GARD:0005787 one_to_one MONDO:0008763 Alstrom syndrome HP HP:0000618 disease_has_feature @@ -50224,20 +51065,21 @@ MONDO:0008763 Alstrom syndrome OMIM OMIM:203800 one_to_one MONDO:0008763 Alstrom syndrome Orphanet Orphanet:64 one_to_one MONDO:0008763 Alstrom syndrome SCTID SCTID:63702009 one_to_one MONDO:0008763 Alstrom syndrome UMLS UMLS:C0268425 one_to_one +MONDO:0008763 Alstrom syndrome http http://identifiers.org/hgnc/428 disease_has_basis_in_dysfunction_of MONDO:0008764 Leber congenital amaurosis 1 DOID DOID:0110078 one_to_one MONDO:0008764 Leber congenital amaurosis 1 GARD GARD:0000635 one_to_one MONDO:0008764 Leber congenital amaurosis 1 ICD10 ICD10:H35.5 inexact MONDO:0008764 Leber congenital amaurosis 1 MONDO MONDO:0018998 subclass -MONDO:0008764 Leber congenital amaurosis 1 NCBIGene NCBIGene:3000 disease_has_basis_in_dysfunction_of MONDO:0008764 Leber congenital amaurosis 1 OMIM OMIM:204000 one_to_one +MONDO:0008764 Leber congenital amaurosis 1 http http://identifiers.org/hgnc/4689 disease_has_basis_in_dysfunction_of MONDO:0008765 Leber congenital amaurosis 2 DOID DOID:0110016 one_to_one MONDO:0008765 Leber congenital amaurosis 2 GARD GARD:0000636 one_to_one MONDO:0008765 Leber congenital amaurosis 2 ICD10 ICD10:H35.5 inexact MONDO:0008765 Leber congenital amaurosis 2 MESH MESH:C536601 one_to_one MONDO:0008765 Leber congenital amaurosis 2 MONDO MONDO:0018998 subclass -MONDO:0008765 Leber congenital amaurosis 2 NCBIGene NCBIGene:6121 disease_has_basis_in_dysfunction_of MONDO:0008765 Leber congenital amaurosis 2 OMIM OMIM:204100 one_to_one MONDO:0008765 Leber congenital amaurosis 2 UMLS UMLS:C1859844 one_to_one +MONDO:0008765 Leber congenital amaurosis 2 http http://identifiers.org/hgnc/10294 disease_has_basis_in_dysfunction_of MONDO:0008766 amaurosis-hypertrichosis syndrome GARD GARD:0000637 one_to_one MONDO:0008766 amaurosis-hypertrichosis syndrome ICD10 ICD10:H35.5 inexact MONDO:0008766 amaurosis-hypertrichosis syndrome MESH MESH:C536604 one_to_one @@ -50248,28 +51090,30 @@ MONDO:0008766 amaurosis-hypertrichosis syndrome SCTID SCTID:720983002 one_to_one MONDO:0008767 neuronal ceroid lipofuscinosis 3 DOID DOID:0110731 one_to_one MONDO:0008767 neuronal ceroid lipofuscinosis 3 GARD GARD:0005897 one_to_one MONDO:0008767 neuronal ceroid lipofuscinosis 3 ICD10 ICD10:E75.4 inexact -MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO MONDO:0019262 subclass +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO MONDO:0016295,MONDO:0019262 subclass MONDO:0008767 neuronal ceroid lipofuscinosis 3 NCIT NCIT:C61258 one_to_one MONDO:0008767 neuronal ceroid lipofuscinosis 3 OMIM OMIM:204200 one_to_one MONDO:0008767 neuronal ceroid lipofuscinosis 3 Orphanet Orphanet:228346 one_to_one +MONDO:0008767 neuronal ceroid lipofuscinosis 3 http http://identifiers.org/hgnc/2074 disease_has_basis_in_dysfunction_of MONDO:0008768 neuronal ceroid lipofuscinosis 4A DOID DOID:0110730 one_to_one MONDO:0008768 neuronal ceroid lipofuscinosis 4A GARD GARD:0006845 one_to_one MONDO:0008768 neuronal ceroid lipofuscinosis 4A ICD10 ICD10:E75.4 inexact MONDO:0008768 neuronal ceroid lipofuscinosis 4A MONDO MONDO:0016295,MONDO:0019260 subclass -MONDO:0008768 neuronal ceroid lipofuscinosis 4A NCBIGene NCBIGene:54982 disease_has_basis_in_dysfunction_of MONDO:0008768 neuronal ceroid lipofuscinosis 4A OMIM OMIM:204300 one_to_one MONDO:0008768 neuronal ceroid lipofuscinosis 4A Orphanet Orphanet:228340 one_to_one +MONDO:0008768 neuronal ceroid lipofuscinosis 4A http http://identifiers.org/hgnc/2077 disease_has_basis_in_dysfunction_of MONDO:0008769 neuronal ceroid lipofuscinosis 2 DOID DOID:0110726 one_to_one MONDO:0008769 neuronal ceroid lipofuscinosis 2 GARD GARD:0003045 one_to_one MONDO:0008769 neuronal ceroid lipofuscinosis 2 ICD10 ICD10:E75.4 inexact -MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO MONDO:0015674,MONDO:0019262 subclass +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO MONDO:0015674,MONDO:0016295,MONDO:0019262 subclass MONDO:0008769 neuronal ceroid lipofuscinosis 2 NCIT NCIT:C85864 one_to_one MONDO:0008769 neuronal ceroid lipofuscinosis 2 OMIM OMIM:204500 one_to_one MONDO:0008769 neuronal ceroid lipofuscinosis 2 Orphanet Orphanet:228349 one_to_one +MONDO:0008769 neuronal ceroid lipofuscinosis 2 http http://identifiers.org/hgnc/2073 disease_has_basis_in_dysfunction_of MONDO:0008770 amelogenesis imperfecta type 1C DOID DOID:0110056 one_to_one MONDO:0008770 amelogenesis imperfecta type 1C ICD10 ICD10:K00.5 inexact MONDO:0008770 amelogenesis imperfecta type 1C MESH MESH:C567147 one_to_one -MONDO:0008770 amelogenesis imperfecta type 1C MONDO MONDO:0003847,MONDO:0015047 subclass +MONDO:0008770 amelogenesis imperfecta type 1C MONDO MONDO:0007092 subclass MONDO:0008770 amelogenesis imperfecta type 1C OMIM OMIM:204650 one_to_one MONDO:0008770 amelogenesis imperfecta type 1C UMLS UMLS:C2673923 one_to_one MONDO:0008771 amelogenesis imperfecta type 1G DOID DOID:0110066 one_to_one @@ -50281,13 +51125,14 @@ MONDO:0008771 amelogenesis imperfecta type 1G MONDO MONDO:0015336,MONDO:0015960, MONDO:0008771 amelogenesis imperfecta type 1G OMIM OMIM:204690 one_to_one MONDO:0008771 amelogenesis imperfecta type 1G Orphanet Orphanet:1031 one_to_one MONDO:0008771 amelogenesis imperfecta type 1G SCTID SCTID:109477002 one_to_one +MONDO:0008771 amelogenesis imperfecta type 1G http http://identifiers.org/hgnc/23015 disease_has_basis_in_dysfunction_of MONDO:0008772 amelogenesis imperfecta type 2A1 DOID DOID:0110057 one_to_one MONDO:0008772 amelogenesis imperfecta type 2A1 GARD GARD:0009495 one_to_one MONDO:0008772 amelogenesis imperfecta type 2A1 ICD10 ICD10:K00.5 inexact MONDO:0008772 amelogenesis imperfecta type 2A1 MESH MESH:C538242,MESH:C567146 inexact MONDO:0008772 amelogenesis imperfecta type 2A1 MONDO MONDO:0003847,MONDO:0015048,MONDO:0019507 subclass -MONDO:0008772 amelogenesis imperfecta type 2A1 NCBIGene NCBIGene:9622 disease_has_basis_in_dysfunction_of MONDO:0008772 amelogenesis imperfecta type 2A1 OMIM OMIM:204700 one_to_one +MONDO:0008772 amelogenesis imperfecta type 2A1 http http://identifiers.org/hgnc/6365 disease_has_basis_in_dysfunction_of MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis GARD GARD:0000763 one_to_one MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis MESH MESH:C565960 one_to_one MONDO:0008773 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis MONDO MONDO:0003847 subclass @@ -50297,6 +51142,7 @@ MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria ICD10 ICD10:E72.3 inexact MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria MONDO MONDO:0017351 subclass MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria OMIM OMIM:204750 one_to_one MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria Orphanet Orphanet:79154 one_to_one +MONDO:0008774 2-aminoadipic 2-oxoadipic aciduria http http://identifiers.org/hgnc/23537 disease_has_basis_in_dysfunction_of MONDO:0008775 Amobarbital, deficient N-hydroxylation of MESH MESH:C565959 one_to_one MONDO:0008775 Amobarbital, deficient N-hydroxylation of MONDO MONDO:0003847 subclass MONDO:0008775 Amobarbital, deficient N-hydroxylation of OMIM OMIM:204800 one_to_one @@ -50315,6 +51161,7 @@ MONDO:0008777 gelatinous drop-like corneal dystrophy NCIT NCIT:C142805 one_to_on MONDO:0008777 gelatinous drop-like corneal dystrophy OMIM OMIM:204870 one_to_one MONDO:0008777 gelatinous drop-like corneal dystrophy Orphanet Orphanet:98957 one_to_one MONDO:0008777 gelatinous drop-like corneal dystrophy UMLS UMLS:C0339273 one_to_one +MONDO:0008777 gelatinous drop-like corneal dystrophy http http://identifiers.org/hgnc/11530 disease_has_basis_in_dysfunction_of MONDO:0008778 amyloidosis, cutaneous bullous ICD9 ICD9:277.39 inexact MONDO:0008778 amyloidosis, cutaneous bullous MESH MESH:C562644 one_to_one MONDO:0008778 amyloidosis, cutaneous bullous MONDO MONDO:0003847 subclass @@ -50330,8 +51177,9 @@ MONDO:0008780 amyotrophic lateral sclerosis type 2 DOID DOID:0060194 one_to_one MONDO:0008780 amyotrophic lateral sclerosis type 2 GARD GARD:0009470 one_to_one MONDO:0008780 amyotrophic lateral sclerosis type 2 ICD10 ICD10:G12.2 inexact MONDO:0008780 amyotrophic lateral sclerosis type 2 MESH MESH:C565957 one_to_one -MONDO:0008780 amyotrophic lateral sclerosis type 2 MONDO MONDO:0005144,MONDO:0017593 subclass +MONDO:0008780 amyotrophic lateral sclerosis type 2 MONDO MONDO:0004976,MONDO:0005144,MONDO:0017593 subclass MONDO:0008780 amyotrophic lateral sclerosis type 2 OMIM OMIM:205100 one_to_one +MONDO:0008780 amyotrophic lateral sclerosis type 2 http http://identifiers.org/hgnc/443 disease_has_basis_in_dysfunction_of MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia DOID DOID:0110067 one_to_one MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia MESH MESH:C565956 one_to_one MONDO:0008781 juvenile amyotrophic lateral sclerosis with dementia MONDO MONDO:0004976 subclass @@ -50351,11 +51199,13 @@ MONDO:0008783 Tangier disease NCIT NCIT:C85182 one_to_one MONDO:0008783 Tangier disease OMIM OMIM:205400 one_to_one MONDO:0008783 Tangier disease Orphanet Orphanet:31150 one_to_one MONDO:0008783 Tangier disease UMLS UMLS:C0039292 one_to_one +MONDO:0008783 Tangier disease http http://identifiers.org/hgnc/29 disease_has_basis_in_dysfunction_of MONDO:0008785 pyridoxine-refractory autosomal recessive sideroblastic anemia DOID DOID:0060065 one_to_one MONDO:0008785 pyridoxine-refractory autosomal recessive sideroblastic anemia GARD GARD:0008249 one_to_one MONDO:0008785 pyridoxine-refractory autosomal recessive sideroblastic anemia MESH MESH:C567145 one_to_one MONDO:0008785 pyridoxine-refractory autosomal recessive sideroblastic anemia MONDO MONDO:0016828 subclass MONDO:0008785 pyridoxine-refractory autosomal recessive sideroblastic anemia OMIM OMIM:205950 one_to_one +MONDO:0008785 pyridoxine-refractory autosomal recessive sideroblastic anemia http http://identifiers.org/hgnc/20134,http://identifiers.org/hgnc/26054 disease_has_basis_in_dysfunction_of MONDO:0008786 pyridoxine-responsive sideroblastic anemia CHEBI CHEBI:16709 disease_responds_to MONDO:0008786 pyridoxine-responsive sideroblastic anemia DOID DOID:0060066 one_to_one MONDO:0008786 pyridoxine-responsive sideroblastic anemia GARD GARD:0009872 one_to_one @@ -50370,6 +51220,7 @@ MONDO:0008787 microcytic anemia with liver iron overload MONDO MONDO:0000104,MON MONDO:0008787 microcytic anemia with liver iron overload OMIM OMIM:206100 one_to_one MONDO:0008787 microcytic anemia with liver iron overload Orphanet Orphanet:83642 one_to_one MONDO:0008787 microcytic anemia with liver iron overload SCTID SCTID:711161006 one_to_one +MONDO:0008787 microcytic anemia with liver iron overload http http://identifiers.org/hgnc/10908 disease_has_basis_in_dysfunction_of MONDO:0008788 IRIDA syndrome GARD GARD:0010957 one_to_one MONDO:0008788 IRIDA syndrome ICD10 ICD10:D50.8 inexact MONDO:0008788 IRIDA syndrome MESH MESH:C562385 one_to_one @@ -50377,6 +51228,7 @@ MONDO:0008788 IRIDA syndrome MONDO MONDO:0001245,MONDO:0020098 subclass MONDO:0008788 IRIDA syndrome OMIM OMIM:206200 one_to_one MONDO:0008788 IRIDA syndrome Orphanet Orphanet:209981 one_to_one MONDO:0008788 IRIDA syndrome SCTID SCTID:722005000 one_to_one +MONDO:0008788 IRIDA syndrome http http://identifiers.org/hgnc/16517 disease_has_basis_in_dysfunction_of MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane MESH MESH:C565953 one_to_one MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane MONDO MONDO:0000105,MONDO:0015972 subclass MONDO:0008789 anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane OMIM OMIM:206300 one_to_one @@ -50392,6 +51244,7 @@ MONDO:0008791 isolated anencephaly/exencephaly MONDO MONDO:0000819,MONDO:0015159 MONDO:0008791 isolated anencephaly/exencephaly OMIM OMIM:206500 one_to_one MONDO:0008791 isolated anencephaly/exencephaly Orphanet Orphanet:1048 one_to_one MONDO:0008791 isolated anencephaly/exencephaly SCTID SCTID:89369001 one_to_one +MONDO:0008791 isolated anencephaly/exencephaly http http://identifiers.org/hgnc/16280 disease_has_basis_in_dysfunction_of MONDO:0008792 familial angiolipomatosis ICD10 ICD10:D17.9 inexact MONDO:0008792 familial angiolipomatosis MESH MESH:C565951 one_to_one MONDO:0008792 familial angiolipomatosis MONDO MONDO:0015949,MONDO:0019296 subclass @@ -50415,6 +51268,7 @@ MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome OMIM O MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome Orphanet Orphanet:1065 one_to_one MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome SCTID SCTID:253176002 one_to_one MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome UMLS UMLS:C0431401 one_to_one +MONDO:0008795 aniridia-cerebellar ataxia-intellectual disability syndrome http http://identifiers.org/hgnc/6180,http://identifiers.org/hgnc/8620 disease_has_basis_in_dysfunction_of MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome GARD GARD:0000690 one_to_one MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008796 aniridia-renal agenesis-psychomotor retardation syndrome MESH MESH:C000598722 one_to_one @@ -50439,6 +51293,7 @@ MONDO:0008798 nonsyndromic congenital nail disorder 4 MESH MESH:C536377 one_to_o MONDO:0008798 nonsyndromic congenital nail disorder 4 MONDO MONDO:0019211,MONDO:0019268 subclass MONDO:0008798 nonsyndromic congenital nail disorder 4 OMIM OMIM:206800 one_to_one MONDO:0008798 nonsyndromic congenital nail disorder 4 Orphanet Orphanet:94150 one_to_one +MONDO:0008798 nonsyndromic congenital nail disorder 4 http http://identifiers.org/hgnc/16175 disease_has_basis_in_dysfunction_of MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome GARD GARD:0001443 one_to_one MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome ICD9 ICD9:758.5 inexact @@ -50446,6 +51301,7 @@ MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO MOND MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome OMIM OMIM:206900 one_to_one MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome Orphanet Orphanet:77298 one_to_one MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome SCTID SCTID:698851003 one_to_one +MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome http http://identifiers.org/hgnc/10892,http://identifiers.org/hgnc/11195 disease_has_basis_in_dysfunction_of MONDO:0008800 microphthalmia with limb anomalies DOID DOID:0060861 one_to_one MONDO:0008800 microphthalmia with limb anomalies GARD GARD:0000722 one_to_one MONDO:0008800 microphthalmia with limb anomalies ICD10 ICD10:Q87.2 inexact @@ -50455,6 +51311,7 @@ MONDO:0008800 microphthalmia with limb anomalies MONDO MONDO:0006025,MONDO:00152 MONDO:0008800 microphthalmia with limb anomalies OMIM OMIM:206920 one_to_one MONDO:0008800 microphthalmia with limb anomalies Orphanet Orphanet:1106 one_to_one MONDO:0008800 microphthalmia with limb anomalies SCTID SCTID:703403003 one_to_one +MONDO:0008800 microphthalmia with limb anomalies http http://identifiers.org/hgnc/20318 disease_has_basis_in_dysfunction_of MONDO:0008801 anosmia for isobutyric acid MONDO MONDO:0003847 subclass MONDO:0008801 anosmia for isobutyric acid OMIM OMIM:207000 one_to_one MONDO:0008802 antithrombin, familial hemorrhagic diathesis due to MESH MESH:C565947 one_to_one @@ -50468,6 +51325,7 @@ MONDO:0008803 Antley-Bixler syndrome MONDO MONDO:0011679,MONDO:0015338,MONDO:004 MONDO:0008803 Antley-Bixler syndrome OMIM OMIM:207410 one_to_one MONDO:0008803 Antley-Bixler syndrome Orphanet Orphanet:83 one_to_one MONDO:0008803 Antley-Bixler syndrome SCTID SCTID:62964007 one_to_one +MONDO:0008803 Antley-Bixler syndrome http http://identifiers.org/hgnc/3689,http://identifiers.org/hgnc/9208 disease_has_basis_in_dysfunction_of MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome GARD GARD:0003051 one_to_one MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome MESH MESH:C535881 one_to_one @@ -50497,6 +51355,7 @@ MONDO:0008810 familial apolipoprotein C-II deficiency OMIM OMIM:207750 one_to_on MONDO:0008810 familial apolipoprotein C-II deficiency Orphanet Orphanet:309020 one_to_one MONDO:0008810 familial apolipoprotein C-II deficiency SCTID SCTID:33513003 one_to_one MONDO:0008810 familial apolipoprotein C-II deficiency UMLS UMLS:C0268199,UMLS:C1720779 inexact +MONDO:0008810 familial apolipoprotein C-II deficiency http http://identifiers.org/hgnc/609 disease_has_basis_in_dysfunction_of MONDO:0008811 XK aprosencephaly GARD GARD:0000424 one_to_one MONDO:0008811 XK aprosencephaly ICD10 ICD10:Q04.3 inexact MONDO:0008811 XK aprosencephaly MESH MESH:C536767 one_to_one @@ -50536,6 +51395,7 @@ MONDO:0008814 hyperargininemia OMIM OMIM:207800 one_to_one MONDO:0008814 hyperargininemia Orphanet Orphanet:90 one_to_one MONDO:0008814 hyperargininemia SCTID SCTID:23501004 one_to_one MONDO:0008814 hyperargininemia UMLS UMLS:C0268548 one_to_one +MONDO:0008814 hyperargininemia http http://identifiers.org/hgnc/663 disease_has_basis_in_dysfunction_of MONDO:0008815 argininosuccinic aciduria DOID DOID:14755 one_to_one MONDO:0008815 argininosuccinic aciduria GARD GARD:0005843 one_to_one MONDO:0008815 argininosuccinic aciduria ICD10 ICD10:E72.2 inexact @@ -50547,6 +51407,7 @@ MONDO:0008815 argininosuccinic aciduria OMIM OMIM:207900 one_to_one MONDO:0008815 argininosuccinic aciduria Orphanet Orphanet:23 one_to_one MONDO:0008815 argininosuccinic aciduria SCTID SCTID:41013004 one_to_one MONDO:0008815 argininosuccinic aciduria UMLS UMLS:C0268547 one_to_one +MONDO:0008815 argininosuccinic aciduria http http://identifiers.org/hgnc/746 disease_has_basis_in_dysfunction_of MONDO:0008816 Chiari malformation type II GARD GARD:0009232 one_to_one MONDO:0008816 Chiari malformation type II ICD10 ICD10:Q07.0 one_to_one MONDO:0008816 Chiari malformation type II MONDO MONDO:0000115,MONDO:0017069 subclass @@ -50557,6 +51418,7 @@ MONDO:0008816 Chiari malformation type II SCTID SCTID:373587001 one_to_one MONDO:0008817 arterial calcification, generalized, of infancy, 1 MONDO MONDO:0018870 subclass MONDO:0008817 arterial calcification, generalized, of infancy, 1 NCIT NCIT:C128805 one_to_one MONDO:0008817 arterial calcification, generalized, of infancy, 1 OMIM OMIM:208000 one_to_one +MONDO:0008817 arterial calcification, generalized, of infancy, 1 http http://identifiers.org/hgnc/3356 disease_has_basis_in_dysfunction_of MONDO:0008818 arterial tortuosity syndrome DOID DOID:0050645 one_to_one MONDO:0008818 arterial tortuosity syndrome GARD GARD:0000774 one_to_one MONDO:0008818 arterial tortuosity syndrome ICD10 ICD10:I77.1,ICD10:Q87.82 inexact @@ -50566,6 +51428,7 @@ MONDO:0008818 arterial tortuosity syndrome OMIM OMIM:208050 one_to_one MONDO:0008818 arterial tortuosity syndrome Orphanet Orphanet:3342 one_to_one MONDO:0008818 arterial tortuosity syndrome SCTID SCTID:458432002 one_to_one MONDO:0008818 arterial tortuosity syndrome UMLS UMLS:C1859726 one_to_one +MONDO:0008818 arterial tortuosity syndrome http http://identifiers.org/hgnc/13444 disease_has_basis_in_dysfunction_of MONDO:0008819 arteriosclerosis, severe juvenile MESH MESH:C565941 one_to_one MONDO:0008819 arteriosclerosis, severe juvenile MONDO MONDO:0003847 subclass MONDO:0008819 arteriosclerosis, severe juvenile OMIM OMIM:208060 one_to_one @@ -50581,6 +51444,7 @@ MONDO:0008821 arthrogryposis, distal, with mental retardation and characteristic MONDO:0008821 arthrogryposis, distal, with mental retardation and characteristic facies UMLS UMLS:C1859723 one_to_one MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 MONDO MONDO:0017123 subclass MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 OMIM OMIM:208085 one_to_one +MONDO:0008822 arthrogryposis, renal dysfunction, and cholestasis 1 http http://identifiers.org/hgnc/12712 disease_has_basis_in_dysfunction_of MONDO:0008823 neurogenic arthrogryposis multiplex congenita DOID DOID:0090124 one_to_one MONDO:0008823 neurogenic arthrogryposis multiplex congenita GARD GARD:0000790 one_to_one MONDO:0008823 neurogenic arthrogryposis multiplex congenita ICD10 ICD10:Q74.3 inexact @@ -50600,6 +51464,7 @@ MONDO:0008824 fetal akinesia deformation sequence NCIT NCIT:C129071 one_to_one MONDO:0008824 fetal akinesia deformation sequence OMIM OMIM:208150 one_to_one MONDO:0008824 fetal akinesia deformation sequence Orphanet Orphanet:994 one_to_one MONDO:0008824 fetal akinesia deformation sequence SCTID SCTID:401138005 one_to_one +MONDO:0008824 fetal akinesia deformation sequence http http://identifiers.org/hgnc/26594,http://identifiers.org/hgnc/7525,http://identifiers.org/hgnc/9863 disease_has_basis_in_dysfunction_of MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome GARD GARD:0000792 one_to_one MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008825 arthrogryposis multiplex congenita-whistling face syndrome MESH MESH:C538401 one_to_one @@ -50623,12 +51488,15 @@ MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood MONDO MONDO: MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood OMIM OMIM:208230 one_to_one MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood Orphanet Orphanet:1159 one_to_one MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood SCTID SCTID:254065005 one_to_one +MONDO:0008827 progressive pseudorheumatoid arthropathy of childhood http http://identifiers.org/hgnc/12771 disease_has_basis_in_dysfunction_of MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome DOID DOID:0090127 one_to_one +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome EFO EFO:0009028 one_to_one MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome GARD GARD:0000306 one_to_one MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MESH MESH:C537560 one_to_one MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome MONDO MONDO:0006025,MONDO:0015940,MONDO:0017133,MONDO:0021198 subclass MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome OMIM OMIM:208250 one_to_one MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome Orphanet Orphanet:2848 one_to_one +MONDO:0008828 camptodactyly-arthropathy-coxa vara-pericarditis syndrome http http://identifiers.org/hgnc/9364 disease_has_basis_in_dysfunction_of MONDO:0008829 chylous ascites GARD GARD:0001359 one_to_one MONDO:0008829 chylous ascites ICD10 ICD10:I89.8 inexact MONDO:0008829 chylous ascites ICD9 ICD9:457.8 inexact @@ -50644,13 +51512,14 @@ MONDO:0008830 aspartylglucosaminuria DOID DOID:0050461 one_to_one MONDO:0008830 aspartylglucosaminuria GARD GARD:0005854 one_to_one MONDO:0008830 aspartylglucosaminuria ICD10 ICD10:E77.1 inexact MONDO:0008830 aspartylglucosaminuria MESH MESH:D054880 one_to_one -MONDO:0008830 aspartylglucosaminuria MONDO MONDO:0015955,MONDO:0015960,MONDO:0016397,MONDO:0019058,MONDO:0019251,MONDO:0019706 subclass +MONDO:0008830 aspartylglucosaminuria MONDO MONDO:0015960,MONDO:0016397,MONDO:0019058,MONDO:0019251,MONDO:0019706 subclass MONDO:0008830 aspartylglucosaminuria MedDRA MedDRA:10068220 one_to_one MONDO:0008830 aspartylglucosaminuria NCIT NCIT:C61273 one_to_one MONDO:0008830 aspartylglucosaminuria OMIM OMIM:208400 one_to_one MONDO:0008830 aspartylglucosaminuria Orphanet Orphanet:93 one_to_one MONDO:0008830 aspartylglucosaminuria SCTID SCTID:54954004 one_to_one MONDO:0008830 aspartylglucosaminuria UMLS UMLS:C0268225 one_to_one +MONDO:0008830 aspartylglucosaminuria http http://identifiers.org/hgnc/318 disease_has_basis_in_dysfunction_of MONDO:0008831 asphyxiating thoracic dystrophy 1 DOID DOID:0110085 one_to_one MONDO:0008831 asphyxiating thoracic dystrophy 1 ICD10 ICD10:Q77.2 inexact MONDO:0008831 asphyxiating thoracic dystrophy 1 MONDO MONDO:0018770 subclass @@ -50664,12 +51533,15 @@ MONDO:0008832 right atrial isomerism (disease) MONDO MONDO:0015621,MONDO:0017131 MONDO:0008832 right atrial isomerism (disease) MedDRA MedDRA:10068335 one_to_one MONDO:0008832 right atrial isomerism (disease) OMIM OMIM:208530 one_to_one MONDO:0008832 right atrial isomerism (disease) Orphanet Orphanet:97548 one_to_one +MONDO:0008832 right atrial isomerism (disease) http http://identifiers.org/hgnc/4214 disease_has_basis_in_dysfunction_of MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 MONDO MONDO:0017417 subclass MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 OMIM OMIM:208540 one_to_one MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 UMLS UMLS:C3715199 one_to_one +MONDO:0008833 renal-hepatic-pancreatic dysplasia 1 http http://identifiers.org/hgnc/7907 disease_has_basis_in_dysfunction_of MONDO:0008834 asthma, nasal polyps, and aspirin intolerance MONDO MONDO:0003847 subclass MONDO:0008834 asthma, nasal polyps, and aspirin intolerance OMIM OMIM:208550 one_to_one MONDO:0008834 asthma, nasal polyps, and aspirin intolerance UMLS UMLS:C1859648 one_to_one +MONDO:0008834 asthma, nasal polyps, and aspirin intolerance http http://identifiers.org/hgnc/11599,http://identifiers.org/hgnc/9594 disease_has_basis_in_dysfunction_of MONDO:0008835 asthma, short stature, and elevated IgA MESH MESH:C565934 one_to_one MONDO:0008835 asthma, short stature, and elevated IgA MONDO MONDO:0003847 subclass MONDO:0008835 asthma, short stature, and elevated IgA OMIM OMIM:208600 one_to_one @@ -50705,6 +51577,7 @@ MONDO:0008840 ataxia telangiectasia OMIM OMIM:208900 one_to_one MONDO:0008840 ataxia telangiectasia Orphanet Orphanet:100 one_to_one MONDO:0008840 ataxia telangiectasia SCTID SCTID:68504005 one_to_one MONDO:0008840 ataxia telangiectasia UMLS UMLS:C0004135 one_to_one +MONDO:0008840 ataxia telangiectasia http http://identifiers.org/hgnc/795 disease_has_basis_in_dysfunction_of MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death MESH MESH:C565930 one_to_one MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death MONDO MONDO:0008840 subclass MONDO:0008841 ataxia-telangiectasia with generalized skin pigmentation and early death OMIM OMIM:208910 one_to_one @@ -50713,10 +51586,11 @@ MONDO:0008842 ataxia with oculomotor apraxia type 1 DOID DOID:0050754 one_to_one MONDO:0008842 ataxia with oculomotor apraxia type 1 GARD GARD:0009283 one_to_one MONDO:0008842 ataxia with oculomotor apraxia type 1 ICD10 ICD10:G11.3 inexact MONDO:0008842 ataxia with oculomotor apraxia type 1 MESH MESH:C538013 one_to_one -MONDO:0008842 ataxia with oculomotor apraxia type 1 MONDO MONDO:0011457,MONDO:0018151,MONDO:0020258 subclass +MONDO:0008842 ataxia with oculomotor apraxia type 1 MONDO MONDO:0011457,MONDO:0015653,MONDO:0018151,MONDO:0020258 subclass MONDO:0008842 ataxia with oculomotor apraxia type 1 OMIM OMIM:208920 one_to_one MONDO:0008842 ataxia with oculomotor apraxia type 1 Orphanet Orphanet:1168 one_to_one MONDO:0008842 ataxia with oculomotor apraxia type 1 UMLS UMLS:C1859598 one_to_one +MONDO:0008842 ataxia with oculomotor apraxia type 1 http http://identifiers.org/hgnc/15984 disease_has_basis_in_dysfunction_of MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome GARD GARD:0002279 one_to_one MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MESH MESH:C565928 one_to_one MONDO:0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome MONDO MONDO:0015650,MONDO:0019589,MONDO:0019721 subclass @@ -50741,10 +51615,11 @@ MONDO:0008846 atransferrinemia OMIM OMIM:209300 one_to_one MONDO:0008846 atransferrinemia Orphanet Orphanet:1195 one_to_one MONDO:0008846 atransferrinemia SCTID SCTID:111571009 one_to_one MONDO:0008846 atransferrinemia UMLS UMLS:C0521802 one_to_one +MONDO:0008846 atransferrinemia http http://identifiers.org/hgnc/11740 disease_has_basis_in_dysfunction_of MONDO:0008847 atrichia with papular lesions DOID DOID:0060689 one_to_one MONDO:0008847 atrichia with papular lesions ICD10 ICD10:L65.8 inexact MONDO:0008847 atrichia with papular lesions MESH MESH:C565924 one_to_one -MONDO:0008847 atrichia with papular lesions MONDO MONDO:0004907 subclass +MONDO:0008847 atrichia with papular lesions MONDO MONDO:0007806 subclass MONDO:0008847 atrichia with papular lesions OMIM OMIM:209500 one_to_one MONDO:0008847 atrichia with papular lesions Orphanet Orphanet:86819 one_to_one MONDO:0008847 atrichia with papular lesions SCTID SCTID:715963002 one_to_one @@ -50778,6 +51653,7 @@ MONDO:0008852 congenital central hypoventilation syndrome OMIM OMIM:209880 one_t MONDO:0008852 congenital central hypoventilation syndrome Orphanet Orphanet:661 one_to_one MONDO:0008852 congenital central hypoventilation syndrome SCTID SCTID:230499002 one_to_one MONDO:0008852 congenital central hypoventilation syndrome UMLS UMLS:C1275808 one_to_one +MONDO:0008852 congenital central hypoventilation syndrome http http://identifiers.org/hgnc/1033,http://identifiers.org/hgnc/3178,http://identifiers.org/hgnc/4232,http://identifiers.org/hgnc/738,http://identifiers.org/hgnc/9143,http://identifiers.org/hgnc/9967 disease_has_basis_in_dysfunction_of MONDO:0008853 Barber-Say syndrome DOID DOID:0060549 one_to_one MONDO:0008853 Barber-Say syndrome GARD GARD:0000819 one_to_one MONDO:0008853 Barber-Say syndrome ICD10 ICD10:Q87.0 inexact @@ -50787,14 +51663,16 @@ MONDO:0008853 Barber-Say syndrome OMIM OMIM:209885 one_to_one MONDO:0008853 Barber-Say syndrome Orphanet Orphanet:1231 one_to_one MONDO:0008853 Barber-Say syndrome SCTID SCTID:408537003 one_to_one MONDO:0008853 Barber-Say syndrome UMLS UMLS:C1319466 one_to_one +MONDO:0008853 Barber-Say syndrome http http://identifiers.org/hgnc/20670 disease_has_basis_in_dysfunction_of MONDO:0008854 Bardet-Biedl syndrome 1 DOID DOID:0110123 one_to_one +MONDO:0008854 Bardet-Biedl syndrome 1 EFO EFO:0009021 one_to_one MONDO:0008854 Bardet-Biedl syndrome 1 GARD GARD:0000820 one_to_one MONDO:0008854 Bardet-Biedl syndrome 1 ICD10 ICD10:Q87.89 inexact MONDO:0008854 Bardet-Biedl syndrome 1 MESH MESH:C537909 one_to_one MONDO:0008854 Bardet-Biedl syndrome 1 MONDO MONDO:0013312,MONDO:0014444,MONDO:0015229 subclass -MONDO:0008854 Bardet-Biedl syndrome 1 NCBIGene NCBIGene:10806,NCBIGene:582,NCBIGene:585,NCBIGene:79140,NCBIGene:8195,NCBIGene:84100,NCBIGene:91147 disease_has_basis_in_dysfunction_of MONDO:0008854 Bardet-Biedl syndrome 1 OMIM OMIM:209900 one_to_one MONDO:0008854 Bardet-Biedl syndrome 1 UMLS UMLS:C2936862 one_to_one +MONDO:0008854 Bardet-Biedl syndrome 1 http http://identifiers.org/hgnc/10671,http://identifiers.org/hgnc/13210,http://identifiers.org/hgnc/28163,http://identifiers.org/hgnc/28396,http://identifiers.org/hgnc/7108,http://identifiers.org/hgnc/966,http://identifiers.org/hgnc/969 disease_has_basis_in_dysfunction_of MONDO:0008855 MHC class II deficiency DOID DOID:5812 one_to_one MONDO:0008855 MHC class II deficiency GARD GARD:0000824 one_to_one MONDO:0008855 MHC class II deficiency ICD10 ICD10:D81.6,ICD10:D81.7 inexact @@ -50805,10 +51683,12 @@ MONDO:0008855 MHC class II deficiency NCIT NCIT:C3895 one_to_one MONDO:0008855 MHC class II deficiency OMIM OMIM:209920 one_to_one MONDO:0008855 MHC class II deficiency Orphanet Orphanet:572 one_to_one MONDO:0008855 MHC class II deficiency SCTID SCTID:71904008 one_to_one +MONDO:0008855 MHC class II deficiency http http://identifiers.org/hgnc/7067,http://identifiers.org/hgnc/9986,http://identifiers.org/hgnc/9987,http://identifiers.org/hgnc/9988 disease_has_basis_in_dysfunction_of MONDO:0008856 immunodeficiency 27A GARD GARD:0009185 one_to_one MONDO:0008856 immunodeficiency 27A MONDO MONDO:0019146 subclass MONDO:0008856 immunodeficiency 27A OMIM OMIM:209950 one_to_one MONDO:0008856 immunodeficiency 27A UMLS UMLS:C4011949 one_to_one +MONDO:0008856 immunodeficiency 27A http http://identifiers.org/hgnc/5439 disease_has_basis_in_dysfunction_of MONDO:0008857 Beemer-Ertbruggen syndrome GARD GARD:0000846 one_to_one MONDO:0008857 Beemer-Ertbruggen syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008857 Beemer-Ertbruggen syndrome MESH MESH:C537668 one_to_one @@ -50825,6 +51705,7 @@ MONDO:0008858 Behr syndrome OMIM OMIM:210000 one_to_one MONDO:0008858 Behr syndrome Orphanet Orphanet:1239 one_to_one MONDO:0008858 Behr syndrome SCTID SCTID:718221007 one_to_one MONDO:0008858 Behr syndrome UMLS UMLS:C0221061 one_to_one +MONDO:0008858 Behr syndrome http http://identifiers.org/hgnc/8140 disease_has_basis_in_dysfunction_of MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification GARD GARD:0008552 one_to_one MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification MESH MESH:C565905 one_to_one MONDO:0008859 berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification MONDO MONDO:0003847 subclass @@ -50834,15 +51715,18 @@ MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of MESH MESH:C565904 MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of MONDO MONDO:0003847 subclass MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of OMIM OMIM:210100 one_to_one MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of UMLS UMLS:C1859518 one_to_one +MONDO:0008860 beta-aminoisobutyric acid, urinary excretion of http http://identifiers.org/hgnc/14412 disease_has_basis_in_dysfunction_of MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency GARD GARD:0005665 one_to_one MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency MESH MESH:C535308 one_to_one MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency MONDO MONDO:0004739,MONDO:0018950 subclass MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency OMIM OMIM:210200 one_to_one MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency UMLS UMLS:CN028786 one_to_one +MONDO:0008861 3-methylcrotonyl-CoA carboxylase 1 deficiency http http://identifiers.org/hgnc/6936 disease_has_basis_in_dysfunction_of MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency GARD GARD:0009151 one_to_one MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency MESH MESH:C535309 one_to_one MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency MONDO MONDO:0018950 subclass MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency OMIM OMIM:210210 one_to_one +MONDO:0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency http http://identifiers.org/hgnc/6937 disease_has_basis_in_dysfunction_of MONDO:0008863 sitosterolemia DOID DOID:0090019 one_to_one MONDO:0008863 sitosterolemia GARD GARD:0007653 one_to_one MONDO:0008863 sitosterolemia ICD10 ICD10:E78.0 inexact @@ -50854,6 +51738,7 @@ MONDO:0008863 sitosterolemia OMIM OMIM:210250 one_to_one MONDO:0008863 sitosterolemia Orphanet Orphanet:2882 one_to_one MONDO:0008863 sitosterolemia SCTID SCTID:238104009 one_to_one 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 @@ -50870,6 +51755,7 @@ MONDO:0008865 Bietti crystalline corneoretinal dystrophy OMIM OMIM:210370 one_to MONDO:0008865 Bietti crystalline corneoretinal dystrophy Orphanet Orphanet:41751 one_to_one MONDO:0008865 Bietti crystalline corneoretinal dystrophy SCTID SCTID:312927001 one_to_one MONDO:0008865 Bietti crystalline corneoretinal dystrophy UMLS UMLS:C1859486 one_to_one +MONDO:0008865 Bietti crystalline corneoretinal dystrophy http http://identifiers.org/hgnc/23198 disease_has_basis_in_dysfunction_of MONDO:0008866 bifid nose, autosomal recessive HP HP:0000007 has_modifier MONDO:0008866 bifid nose, autosomal recessive MONDO MONDO:0000110,MONDO:0006025,MONDO:0015958 subclass MONDO:0008866 bifid nose, autosomal recessive OMIM OMIM:210400 one_to_one @@ -50893,9 +51779,9 @@ MONDO:0008868 biliary malformation with renal tubular insufficiency SCTID SCTID: MONDO:0008868 biliary malformation with renal tubular insufficiency UMLS UMLS:C0400972 one_to_one MONDO:0008869 Seckel syndrome 1 DOID DOID:0070007 one_to_one MONDO:0008869 Seckel syndrome 1 MONDO MONDO:0019342 subclass -MONDO:0008869 Seckel syndrome 1 NCBIGene NCBIGene:545 disease_has_basis_in_dysfunction_of MONDO:0008869 Seckel syndrome 1 OMIM OMIM:210600 one_to_one MONDO:0008869 Seckel syndrome 1 UMLS UMLS:C1837590,UMLS:CN033164 inexact +MONDO:0008869 Seckel syndrome 1 http http://identifiers.org/hgnc/882 disease_has_basis_in_dysfunction_of MONDO:0008870 bird headed-dwarfism, Montreal type GARD GARD:0000895 one_to_one MONDO:0008870 bird headed-dwarfism, Montreal type ICD10 ICD10:Q87.1 inexact MONDO:0008870 bird headed-dwarfism, Montreal type MESH MESH:C535448 one_to_one @@ -50906,9 +51792,9 @@ MONDO:0008870 bird headed-dwarfism, Montreal type UMLS UMLS:C1859468 one_to_one MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type i DOID DOID:0060608 one_to_one MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type i ICD10 ICD10:Q87.1 inexact MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type i MONDO MONDO:0000060,MONDO:0005516,MONDO:0016994 subclass -MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type i NCBIGene NCBIGene:100151683 disease_has_basis_in_dysfunction_of MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type i OMIM OMIM:210710 one_to_one MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type i SCTID SCTID:254102008 one_to_one +MONDO:0008871 microcephalic osteodysplastic primordial dwarfism type i http http://identifiers.org/hgnc/34016 disease_has_basis_in_dysfunction_of MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II DOID DOID:0060609 one_to_one MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II GARD GARD:0009844 one_to_one MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II ICD10 ICD10:Q87.1 inexact @@ -50917,6 +51803,7 @@ MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II MONDO MO MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II OMIM OMIM:210720 one_to_one MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II Orphanet Orphanet:2637 one_to_one MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II SCTID SCTID:254103003 one_to_one +MONDO:0008872 microcephalic osteodysplastic primordial dwarfism type II http http://identifiers.org/hgnc/16068 disease_has_basis_in_dysfunction_of MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 MESH MESH:C537320 one_to_one MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 MONDO MONDO:0000060,MONDO:0016994 subclass MONDO:0008873 microcephalic osteodysplastic primordial dwarfism, type 3 OMIM OMIM:210730 one_to_one @@ -50948,6 +51835,7 @@ MONDO:0008876 Bloom syndrome OMIM OMIM:210900 one_to_one MONDO:0008876 Bloom syndrome Orphanet Orphanet:125 one_to_one MONDO:0008876 Bloom syndrome SCTID SCTID:4434006 one_to_one MONDO:0008876 Bloom syndrome UMLS UMLS:C0005859 one_to_one +MONDO:0008876 Bloom syndrome http http://identifiers.org/hgnc/1058 disease_has_basis_in_dysfunction_of MONDO:0008877 blue diaper syndrome GARD GARD:0005939 one_to_one MONDO:0008877 blue diaper syndrome ICD10 ICD10:E70.8 inexact MONDO:0008877 blue diaper syndrome MESH MESH:C536239 one_to_one @@ -50973,9 +51861,11 @@ MONDO:0008879 Bowen-Conradi syndrome OMIM OMIM:211180 one_to_one MONDO:0008879 Bowen-Conradi syndrome Orphanet Orphanet:1270 one_to_one MONDO:0008879 Bowen-Conradi syndrome SCTID SCTID:711153001 one_to_one MONDO:0008879 Bowen-Conradi syndrome UMLS UMLS:C1859405 one_to_one +MONDO:0008879 Bowen-Conradi syndrome http http://identifiers.org/hgnc/16912 disease_has_basis_in_dysfunction_of MONDO:0008880 Bowen syndrome of multiple malformations MESH MESH:C538164 one_to_one MONDO:0008880 Bowen syndrome of multiple malformations MONDO MONDO:0003847 subclass MONDO:0008880 Bowen syndrome of multiple malformations OMIM OMIM:211200 one_to_one +MONDO:0008880 Bowen syndrome of multiple malformations Orphanet Orphanet:1271 one_to_one MONDO:0008880 Bowen syndrome of multiple malformations UMLS UMLS:C1859404 one_to_one MONDO:0008881 Kyphomelic dysplasia GARD GARD:0010149 one_to_one MONDO:0008881 Kyphomelic dysplasia ICD9 ICD9:733.29 inexact @@ -51014,11 +51904,13 @@ MONDO:0008886 Sabinas brittle hair syndrome GARD GARD:0000313 one_to_one MONDO:0008886 Sabinas brittle hair syndrome MESH MESH:C536320 one_to_one MONDO:0008886 Sabinas brittle hair syndrome MONDO MONDO:0003847 subclass MONDO:0008886 Sabinas brittle hair syndrome OMIM OMIM:211390 one_to_one +MONDO:0008886 Sabinas brittle hair syndrome Orphanet Orphanet:3123 one_to_one MONDO:0008886 Sabinas brittle hair syndrome UMLS UMLS:C0796271 one_to_one MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 MESH MESH:C567618 one_to_one MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 MONDO MONDO:0018956 subclass MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 OMIM OMIM:211400 one_to_one MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 UMLS UMLS:C2749757 one_to_one +MONDO:0008887 bronchiectasis with or without elevated sweat chloride 1 http http://identifiers.org/hgnc/10600,http://identifiers.org/hgnc/1884 disease_has_basis_in_dysfunction_of MONDO:0008888 Williams-Campbell syndrome GARD GARD:0007791 one_to_one MONDO:0008888 Williams-Campbell syndrome ICD10 ICD10:Q33.4 one_to_one MONDO:0008888 Williams-Campbell syndrome ICD9 ICD9:748.3 inexact @@ -51051,19 +51943,22 @@ MONDO:0008890 progressive bulbar palsy MESH MESH:D010244 one_to_one MONDO:0008890 progressive bulbar palsy MONDO MONDO:0002782,MONDO:0005560,MONDO:0006496,MONDO:0008891 subclass MONDO:0008890 progressive bulbar palsy NCIT NCIT:C85026 one_to_one MONDO:0008890 progressive bulbar palsy OMIM OMIM:211500 one_to_one +MONDO:0008890 progressive bulbar palsy Orphanet Orphanet:56965 one_to_one MONDO:0008890 progressive bulbar palsy SCTID SCTID:54304004 one_to_one MONDO:0008890 progressive bulbar palsy UBERON UBERON:0002298 disease_has_location MONDO:0008890 progressive bulbar palsy UMLS UMLS:C0030442 one_to_one +MONDO:0008890 progressive bulbar palsy http http://identifiers.org/hgnc/16187 disease_has_basis_in_dysfunction_of MONDO:0008891 riboflavin transporter deficiency GARD GARD:0009993 one_to_one MONDO:0008891 riboflavin transporter deficiency GO GO:0032217 disease_has_basis_in_disruption_of MONDO:0008891 riboflavin transporter deficiency ICD10 ICD10:G12.1 inexact -MONDO:0008891 riboflavin transporter deficiency MONDO MONDO:0000001,MONDO:0016114,MONDO:0019589,MONDO:0021196,MONDO:0024237 subclass +MONDO:0008891 riboflavin transporter deficiency MONDO MONDO:0000001,MONDO:0016114,MONDO:0019589,MONDO:0024237,MONDO:0044975 subclass MONDO:0008891 riboflavin transporter deficiency Orphanet Orphanet:97229 one_to_one MONDO:0008892 progressive familial intrahepatic cholestasis type 1 ICD10 ICD10:K76.8 inexact MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO MONDO:0015762 subclass MONDO:0008892 progressive familial intrahepatic cholestasis type 1 OMIM OMIM:211600 one_to_one MONDO:0008892 progressive familial intrahepatic cholestasis type 1 Orphanet Orphanet:79306 one_to_one MONDO:0008892 progressive familial intrahepatic cholestasis type 1 UMLS UMLS:CN205891 one_to_one +MONDO:0008892 progressive familial intrahepatic cholestasis type 1 http http://identifiers.org/hgnc/3706 disease_has_basis_in_dysfunction_of 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 @@ -51072,6 +51967,7 @@ 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 MONDO:0008893 c syndrome UMLS UMLS:C0796095 one_to_one +MONDO:0008893 c syndrome http http://identifiers.org/hgnc/16892 disease_has_basis_in_dysfunction_of MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MESH MESH:C537959 one_to_one MONDO:0008894 cataract-hypertrichosis-intellectual disability syndrome MONDO MONDO:0015218,MONDO:0015983,MONDO:0019280,MONDO:0019287,MONDO:0020225 subclass @@ -51086,6 +51982,7 @@ MONDO:0008895 hereditary arterial and articular multiple calcification syndrome MONDO:0008895 hereditary arterial and articular multiple calcification syndrome Orphanet Orphanet:289601 one_to_one MONDO:0008895 hereditary arterial and articular multiple calcification syndrome SCTID SCTID:718602007 one_to_one MONDO:0008895 hereditary arterial and articular multiple calcification syndrome UMLS UMLS:C1859372,UMLS:C4305347 inexact +MONDO:0008895 hereditary arterial and articular multiple calcification syndrome http http://identifiers.org/hgnc/8021 disease_has_basis_in_dysfunction_of MONDO:0008896 campomelia, Cumming type GARD GARD:0001061 one_to_one MONDO:0008896 campomelia, Cumming type ICD10 ICD10:Q87.8 inexact MONDO:0008896 campomelia, Cumming type MESH MESH:C537966 one_to_one @@ -51143,6 +52040,7 @@ MONDO:0008903 lung cancer NCIT NCIT:C7377 one_to_one MONDO:0008903 lung cancer OMIM OMIM:211980 one_to_one MONDO:0008903 lung cancer SCTID SCTID:363358000 one_to_one MONDO:0008903 lung cancer UBERON UBERON:0002048 disease_has_location +MONDO:0008903 lung cancer http http://identifiers.org/hgnc/10964,http://identifiers.org/hgnc/1097,http://identifiers.org/hgnc/11936,http://identifiers.org/hgnc/1509,http://identifiers.org/hgnc/2610,http://identifiers.org/hgnc/2899,http://identifiers.org/hgnc/3236,http://identifiers.org/hgnc/3430,http://identifiers.org/hgnc/3438,http://identifiers.org/hgnc/6116,http://identifiers.org/hgnc/6407,http://identifiers.org/hgnc/6860,http://identifiers.org/hgnc/8607,http://identifiers.org/hgnc/8975,http://identifiers.org/hgnc/9303,http://identifiers.org/hgnc/9882 disease_has_basis_in_dysfunction_of MONDO:0008904 camptomelic syndrome, long-limb type GARD GARD:0001071 one_to_one MONDO:0008904 camptomelic syndrome, long-limb type MESH MESH:C537977 one_to_one MONDO:0008904 camptomelic syndrome, long-limb type MONDO MONDO:0007251 subclass @@ -51154,6 +52052,7 @@ MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency OMIM OMIM:212050 one_to_one MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency Orphanet Orphanet:457088 one_to_one MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency UMLS UMLS:C1859353 one_to_one +MONDO:0008905 predisposition to invasive fungal disease due to CARD9 deficiency http http://identifiers.org/hgnc/16391 disease_has_basis_in_dysfunction_of MONDO:0008906 carbimazole sensitivity MONDO MONDO:0003847 subclass MONDO:0008906 carbimazole sensitivity OMIM OMIM:212060 one_to_one MONDO:0008907 PMM2-CDG GARD GARD:0009826 one_to_one @@ -51165,6 +52064,7 @@ MONDO:0008907 PMM2-CDG OMIM OMIM:212065 one_to_one MONDO:0008907 PMM2-CDG Orphanet Orphanet:79318 one_to_one MONDO:0008907 PMM2-CDG SCTID SCTID:459063003 one_to_one MONDO:0008907 PMM2-CDG UMLS UMLS:C0349653 one_to_one +MONDO:0008907 PMM2-CDG http http://identifiers.org/hgnc/9115 disease_has_basis_in_dysfunction_of MONDO:0008908 MGAT2-CDG GARD GARD:0009828 one_to_one MONDO:0008908 MGAT2-CDG ICD10 ICD10:E77.8 inexact MONDO:0008908 MGAT2-CDG MESH MESH:C535752 one_to_one @@ -51172,6 +52072,7 @@ MONDO:0008908 MGAT2-CDG MONDO MONDO:0005501,MONDO:0017740,MONDO:0018286,MONDO:00 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 @@ -51184,6 +52085,7 @@ MONDO:0008910 carboxypeptidase N deficiency NCIT NCIT:C132196 one_to_one MONDO:0008910 carboxypeptidase N deficiency OMIM OMIM:212070 one_to_one MONDO:0008910 carboxypeptidase N deficiency SCTID SCTID:234627009 one_to_one MONDO:0008910 carboxypeptidase N deficiency UMLS UMLS:C0398782 one_to_one +MONDO:0008910 carboxypeptidase N deficiency http http://identifiers.org/hgnc/2312 disease_has_basis_in_dysfunction_of MONDO:0008911 cardiac lipidosis, familial MESH MESH:C565884 one_to_one MONDO:0008911 cardiac lipidosis, familial MONDO MONDO:0010771 subclass MONDO:0008911 cardiac lipidosis, familial OMIM OMIM:212080 one_to_one @@ -51196,6 +52098,7 @@ MONDO:0008913 cardiac valvular defect, developmental MESH MESH:C565882 one_to_on MONDO:0008913 cardiac valvular defect, developmental MONDO MONDO:0003847 subclass MONDO:0008913 cardiac valvular defect, developmental OMIM OMIM:212093 one_to_one MONDO:0008913 cardiac valvular defect, developmental UMLS UMLS:C1859330 one_to_one +MONDO:0008913 cardiac valvular defect, developmental http http://identifiers.org/hgnc/9067 disease_has_basis_in_dysfunction_of MONDO:0008914 cardioauditory syndrome of Sanchez Cascos GARD GARD:0008519 one_to_one MONDO:0008914 cardioauditory syndrome of Sanchez Cascos MESH MESH:C535577 one_to_one MONDO:0008914 cardioauditory syndrome of Sanchez Cascos MONDO MONDO:0003847 subclass @@ -51208,6 +52111,7 @@ MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome OMI MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome Orphanet Orphanet:2229 one_to_one MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome SCTID SCTID:719451006 one_to_one MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome UMLS UMLS:C0796031,UMLS:C0796083 inexact +MONDO:0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome http http://identifiers.org/hgnc/6636 disease_has_basis_in_dysfunction_of MONDO:0008916 cardiomyopathy associated with myopathy and sudden death MESH MESH:C565881 one_to_one MONDO:0008916 cardiomyopathy associated with myopathy and sudden death MONDO MONDO:0003847 subclass MONDO:0008916 cardiomyopathy associated with myopathy and sudden death OMIM OMIM:212130 one_to_one @@ -51229,6 +52133,7 @@ MONDO:0008918 carnitine-acylcarnitine translocase deficiency OMIM OMIM:212138 on MONDO:0008918 carnitine-acylcarnitine translocase deficiency Orphanet Orphanet:159 one_to_one MONDO:0008918 carnitine-acylcarnitine translocase deficiency SCTID SCTID:238003000 one_to_one MONDO:0008918 carnitine-acylcarnitine translocase deficiency UMLS UMLS:C0342791 one_to_one +MONDO:0008918 carnitine-acylcarnitine translocase deficiency http http://identifiers.org/hgnc/1421 disease_has_basis_in_dysfunction_of MONDO:0008919 systemic primary carnitine deficiency disease DOID DOID:14365 one_to_one MONDO:0008919 systemic primary carnitine deficiency disease GARD GARD:0005104 one_to_one MONDO:0008919 systemic primary carnitine deficiency disease ICD10 ICD10:E71.3,ICD10:E71.41,ICD10:E71.42 inexact @@ -51240,6 +52145,7 @@ MONDO:0008919 systemic primary carnitine deficiency disease OMIM OMIM:212140 one MONDO:0008919 systemic primary carnitine deficiency disease Orphanet Orphanet:158 one_to_one MONDO:0008919 systemic primary carnitine deficiency disease SCTID SCTID:21764004 one_to_one MONDO:0008919 systemic primary carnitine deficiency disease UMLS UMLS:C0342788 one_to_one +MONDO:0008919 systemic primary carnitine deficiency disease http http://identifiers.org/hgnc/10969 disease_has_basis_in_dysfunction_of MONDO:0008920 carnitine deficiency, myopathic GARD GARD:0006616 one_to_one MONDO:0008920 carnitine deficiency, myopathic MESH MESH:C536100 one_to_one MONDO:0008920 carnitine deficiency, myopathic MONDO MONDO:0003847 subclass @@ -51262,6 +52168,7 @@ 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 MONDO:0008922 Sengers syndrome UMLS UMLS:C1859317 one_to_one +MONDO:0008922 Sengers syndrome http http://identifiers.org/hgnc/21869 disease_has_basis_in_dysfunction_of MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia GARD GARD:0001139 one_to_one MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia ICD10 ICD10:Q82.8,ICD10:Q84.0 inexact MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MESH MESH:C535336 one_to_one @@ -51281,6 +52188,7 @@ MONDO:0008925 cataract 46 juvenile-onset ICD10 ICD10:Q12.0 inexact MONDO:0008925 cataract 46 juvenile-onset MESH MESH:C538286 one_to_one MONDO:0008925 cataract 46 juvenile-onset MONDO MONDO:0011060 subclass MONDO:0008925 cataract 46 juvenile-onset OMIM OMIM:212500 one_to_one +MONDO:0008925 cataract 46 juvenile-onset http http://identifiers.org/hgnc/21244 disease_has_basis_in_dysfunction_of MONDO:0008926 COFS syndrome DC DC:0000076 one_to_one MONDO:0008926 COFS syndrome GARD GARD:0001060,GARD:0006027 inexact MONDO:0008926 COFS syndrome ICD10 ICD10:Q87.1 inexact @@ -51296,6 +52204,7 @@ MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome MONDO MONDO:0015218,MONDO:0020149 subclass MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome OMIM OMIM:212550 one_to_one MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome Orphanet Orphanet:435930 one_to_one +MONDO:0008927 colobomatous optic disc-macular atrophy-chorioretinopathy syndrome http http://identifiers.org/hgnc/10892 disease_has_basis_in_dysfunction_of MONDO:0008928 cataract-ataxia-deafness syndrome GARD GARD:0001141 one_to_one MONDO:0008928 cataract-ataxia-deafness syndrome ICD10 ICD10:G11.2 inexact MONDO:0008928 cataract-ataxia-deafness syndrome MESH MESH:C538283 one_to_one @@ -51311,8 +52220,10 @@ MONDO:0008929 cataract-intellectual disability-hypogonadism syndrome OMIM OMIM:2 MONDO:0008929 cataract-intellectual disability-hypogonadism syndrome Orphanet Orphanet:1387 one_to_one MONDO:0008929 cataract-intellectual disability-hypogonadism syndrome SCTID SCTID:722380003 one_to_one MONDO:0008929 cataract-intellectual disability-hypogonadism syndrome UMLS UMLS:C0796037 one_to_one +MONDO:0008929 cataract-intellectual disability-hypogonadism syndrome http http://identifiers.org/hgnc/17168 disease_has_basis_in_dysfunction_of MONDO:0008930 celiac disease, susceptibility to, 1 MONDO MONDO:0005130 subclass MONDO:0008930 celiac disease, susceptibility to, 1 OMIM OMIM:212750 one_to_one +MONDO:0008930 celiac disease, susceptibility to, 1 http http://identifiers.org/hgnc/4942,http://identifiers.org/hgnc/4944 disease_has_basis_in_dysfunction_of MONDO:0008931 Cenani-Lenz syndactyly syndrome DOID DOID:0090015 one_to_one MONDO:0008931 Cenani-Lenz syndactyly syndrome GARD GARD:0005084 one_to_one MONDO:0008931 Cenani-Lenz syndactyly syndrome ICD10 ICD10:Q78.4 inexact @@ -51322,6 +52233,7 @@ MONDO:0008931 Cenani-Lenz syndactyly syndrome OMIM OMIM:212780 one_to_one MONDO:0008931 Cenani-Lenz syndactyly syndrome Orphanet Orphanet:3258 one_to_one MONDO:0008931 Cenani-Lenz syndactyly syndrome SCTID SCTID:720633009 one_to_one MONDO:0008931 Cenani-Lenz syndactyly syndrome UMLS UMLS:C1859309 one_to_one +MONDO:0008931 Cenani-Lenz syndactyly syndrome http http://identifiers.org/hgnc/6696 disease_has_basis_in_dysfunction_of MONDO:0008932 PCD MONDO MONDO:0003847 subclass MONDO:0008932 PCD OMIM OMIM:212790 one_to_one MONDO:0008932 PCD UMLS UMLS:C1859308 one_to_one @@ -51344,6 +52256,7 @@ MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO MONDO:0000557,MONDO: MONDO:0008935 cerebellar ataxia-hypogonadism syndrome OMIM OMIM:212840 one_to_one MONDO:0008935 cerebellar ataxia-hypogonadism syndrome Orphanet Orphanet:1173 one_to_one MONDO:0008935 cerebellar ataxia-hypogonadism syndrome UMLS UMLS:C1859305 one_to_one +MONDO:0008935 cerebellar ataxia-hypogonadism syndrome http http://identifiers.org/hgnc/21698 disease_has_basis_in_dysfunction_of MONDO:0008936 cerebellar ataxia and neurosensory deafness MESH MESH:C565869 one_to_one MONDO:0008936 cerebellar ataxia and neurosensory deafness MONDO MONDO:0003847 subclass MONDO:0008936 cerebellar ataxia and neurosensory deafness OMIM OMIM:212850 one_to_one @@ -51395,11 +52308,12 @@ MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 OMIM OMIM:213200 one_ MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 Orphanet Orphanet:1170 one_to_one MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 SCTID SCTID:715369006 one_to_one MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 UMLS UMLS:C1859298 one_to_one +MONDO:0008943 autosomal recessive spinocerebellar ataxia 2 http http://identifiers.org/hgnc/18667 disease_has_basis_in_dysfunction_of MONDO:0008944 Joubert syndrome 1 DOID DOID:0110980 one_to_one MONDO:0008944 Joubert syndrome 1 MONDO MONDO:0018772 subclass -MONDO:0008944 Joubert syndrome 1 NCBIGene NCBIGene:56623 disease_has_basis_in_dysfunction_of MONDO:0008944 Joubert syndrome 1 OMIM OMIM:213300 one_to_one MONDO:0008944 Joubert syndrome 1 UMLS UMLS:CN119531 one_to_one +MONDO:0008944 Joubert syndrome 1 http http://identifiers.org/hgnc/21474 disease_has_basis_in_dysfunction_of MONDO:0008945 myoclonic cerebellar dyssynergia DOID DOID:12707 one_to_one MONDO:0008945 myoclonic cerebellar dyssynergia EFO EFO:1001053 one_to_one MONDO:0008945 myoclonic cerebellar dyssynergia ICD10 ICD10:G11.1 inexact @@ -51429,12 +52343,13 @@ MONDO:0008948 cerebrotendinous xanthomatosis DOID DOID:4810 one_to_one MONDO:0008948 cerebrotendinous xanthomatosis GARD GARD:0005622 one_to_one MONDO:0008948 cerebrotendinous xanthomatosis ICD10 ICD10:E75.5 inexact MONDO:0008948 cerebrotendinous xanthomatosis MESH MESH:D019294 one_to_one -MONDO:0008948 cerebrotendinous xanthomatosis MONDO MONDO:0002615,MONDO:0015327,MONDO:0015581,MONDO:0015905,MONDO:0015949,MONDO:0016133,MONDO:0016405,MONDO:0019046,MONDO:0019058,MONDO:0019296,MONDO:0020044,MONDO:0020143,MONDO:0020280 subclass +MONDO:0008948 cerebrotendinous xanthomatosis MONDO MONDO:0002615,MONDO:0015327,MONDO:0015581,MONDO:0015653,MONDO:0015905,MONDO:0015949,MONDO:0016133,MONDO:0016397,MONDO:0016405,MONDO:0019046,MONDO:0019058,MONDO:0019296,MONDO:0020044,MONDO:0020143,MONDO:0020280 subclass MONDO:0008948 cerebrotendinous xanthomatosis NCIT NCIT:C84628 one_to_one MONDO:0008948 cerebrotendinous xanthomatosis OMIM OMIM:213700 one_to_one MONDO:0008948 cerebrotendinous xanthomatosis Orphanet Orphanet:909 one_to_one MONDO:0008948 cerebrotendinous xanthomatosis SCTID SCTID:63246000 one_to_one MONDO:0008948 cerebrotendinous xanthomatosis UMLS UMLS:C0238052 one_to_one +MONDO:0008948 cerebrotendinous xanthomatosis http http://identifiers.org/hgnc/2605 disease_has_basis_in_dysfunction_of MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers GARD GARD:0003812 one_to_one MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers MESH MESH:C537370 one_to_one MONDO:0008949 cerebral malformation, seizures, hypertrichosis, and overlapping fingers MONDO MONDO:0003847 subclass @@ -51457,11 +52372,14 @@ MONDO:0008952 cerebrofaciothoracic dysplasia Orphanet Orphanet:1394 one_to_one MONDO:0008952 cerebrofaciothoracic dysplasia SCTID SCTID:720635002 one_to_one MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) MONDO MONDO:0019609 subclass MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) OMIM OMIM:214100 one_to_one +MONDO:0008953 peroxisome biogenesis disorder 1A (Zellweger) http http://identifiers.org/hgnc/8850 disease_has_basis_in_dysfunction_of MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) MONDO MONDO:0019609 subclass MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) OMIM OMIM:214110 one_to_one MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) UMLS UMLS:C3550273 one_to_one -MONDO:0008955 Cerebrooculofacioskeletal syndrome 1 MONDO MONDO:0008926 subclass -MONDO:0008955 Cerebrooculofacioskeletal syndrome 1 OMIM OMIM:214150 one_to_one +MONDO:0008954 peroxisome biogenesis disorder 2A (Zellweger) http http://identifiers.org/hgnc/9719 disease_has_basis_in_dysfunction_of +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 MONDO MONDO:0008926 subclass +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 OMIM OMIM:214150 one_to_one +MONDO:0008955 cerebrooculofacioskeletal syndrome 1 http http://identifiers.org/hgnc/3438 disease_has_basis_in_dysfunction_of MONDO:0008956 congenital neuronal ceroid lipofuscinosis GARD GARD:0009447 one_to_one MONDO:0008956 congenital neuronal ceroid lipofuscinosis ICD10 ICD10:E75.4 inexact MONDO:0008956 congenital neuronal ceroid lipofuscinosis MONDO MONDO:0019261 subclass @@ -51475,9 +52393,11 @@ MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive MESH MESH:C536888 one MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive MONDO MONDO:0016520 subclass MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive OMIM OMIM:214300 one_to_one MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive UMLS UMLS:C1859209 one_to_one +MONDO:0008958 Klippel-Feil syndrome 2, autosomal recessive http http://identifiers.org/hgnc/7013 disease_has_basis_in_dysfunction_of MONDO:0008959 CHAND syndrome MESH MESH:C538074 one_to_one MONDO:0008959 CHAND syndrome MONDO MONDO:0003847 subclass MONDO:0008959 CHAND syndrome OMIM OMIM:214350 one_to_one +MONDO:0008959 CHAND syndrome Orphanet Orphanet:1401 one_to_one MONDO:0008959 CHAND syndrome SCTID SCTID:239037001 one_to_one MONDO:0008959 CHAND syndrome UMLS UMLS:C0406733,UMLS:CN199447 inexact MONDO:0008960 Charcot-Marie-tooth disease-deafness-intellectual disability syndrome ICD10 ICD10:G60.0 inexact @@ -51489,20 +52409,21 @@ MONDO:0008961 Charcot-Marie-tooth disease type 4A DOID DOID:0110185 one_to_one MONDO:0008961 Charcot-Marie-tooth disease type 4A GARD GARD:0001252 one_to_one MONDO:0008961 Charcot-Marie-tooth disease type 4A ICD10 ICD10:G60.0 inexact MONDO:0008961 Charcot-Marie-tooth disease type 4A MESH MESH:C535419 one_to_one -MONDO:0008961 Charcot-Marie-tooth disease type 4A MONDO MONDO:0018995 subclass +MONDO:0008961 Charcot-Marie-tooth disease type 4A MONDO MONDO:0012014,MONDO:0018995 subclass MONDO:0008961 Charcot-Marie-tooth disease type 4A OMIM OMIM:214400 one_to_one MONDO:0008961 Charcot-Marie-tooth disease type 4A Orphanet Orphanet:99948 one_to_one MONDO:0008961 Charcot-Marie-tooth disease type 4A SCTID SCTID:715796006 one_to_one MONDO:0008961 Charcot-Marie-tooth disease type 4A UMLS UMLS:C1859198 one_to_one +MONDO:0008961 Charcot-Marie-tooth disease type 4A http http://identifiers.org/hgnc/15968 disease_has_basis_in_dysfunction_of MONDO:0008962 Griscelli syndrome type 1 DOID DOID:0060832 one_to_one MONDO:0008962 Griscelli syndrome type 1 GARD GARD:0002566 one_to_one MONDO:0008962 Griscelli syndrome type 1 ICD10 ICD10:E70.3 inexact MONDO:0008962 Griscelli syndrome type 1 MESH MESH:C537301 one_to_one MONDO:0008962 Griscelli syndrome type 1 MONDO MONDO:0015144,MONDO:0018306 subclass -MONDO:0008962 Griscelli syndrome type 1 NCBIGene NCBIGene:4644 disease_has_basis_in_dysfunction_of MONDO:0008962 Griscelli syndrome type 1 OMIM OMIM:214450 one_to_one MONDO:0008962 Griscelli syndrome type 1 Orphanet Orphanet:79476 one_to_one MONDO:0008962 Griscelli syndrome type 1 UMLS UMLS:C1859194 one_to_one +MONDO:0008962 Griscelli syndrome type 1 http http://identifiers.org/hgnc/7602 disease_has_basis_in_dysfunction_of MONDO:0008963 Chediak-Higashi syndrome DOID DOID:2935 one_to_one MONDO:0008963 Chediak-Higashi syndrome GARD GARD:0006035 one_to_one MONDO:0008963 Chediak-Higashi syndrome ICD10 ICD10:D72.0,ICD10:E70.3,ICD10:E70.330 inexact @@ -51514,6 +52435,7 @@ MONDO:0008963 Chediak-Higashi syndrome OMIM OMIM:214500 one_to_one MONDO:0008963 Chediak-Higashi syndrome Orphanet Orphanet:167 one_to_one MONDO:0008963 Chediak-Higashi syndrome SCTID SCTID:111396008 one_to_one MONDO:0008963 Chediak-Higashi syndrome UMLS UMLS:C0007965 one_to_one +MONDO:0008963 Chediak-Higashi syndrome http http://identifiers.org/hgnc/1968 disease_has_basis_in_dysfunction_of MONDO:0008964 congenital secretory chloride diarrhea 1 DOID DOID:0060296 one_to_one MONDO:0008964 congenital secretory chloride diarrhea 1 GARD GARD:0010001 one_to_one MONDO:0008964 congenital secretory chloride diarrhea 1 GO GO:0015108 disease_has_basis_in_disruption_of @@ -51524,18 +52446,20 @@ MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO MONDO:0000249,MONDO 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 +MONDO:0008964 congenital secretory chloride diarrhea 1 http http://identifiers.org/hgnc/3018 disease_has_basis_in_dysfunction_of MONDO:0008965 CHARGE syndrome DOID DOID:0050834 one_to_one MONDO:0008965 CHARGE syndrome GARD GARD:0000029 one_to_one MONDO:0008965 CHARGE syndrome ICD10 ICD10:Q87.8,ICD10:Q89.8 inexact MONDO:0008965 CHARGE syndrome ICD9 ICD9:759.89 inexact MONDO:0008965 CHARGE syndrome MESH MESH:D058747 one_to_one -MONDO:0008965 CHARGE syndrome MONDO MONDO:0015218,MONDO:0015501,MONDO:0015506,MONDO:0015620,MONDO:0015621,MONDO:0015890,MONDO:0015958,MONDO:0018036,MONDO:0018399,MONDO:0019589,MONDO:0019721,MONDO:0020237,MONDO:0021635,MONDO:0043007 subclass +MONDO:0008965 CHARGE syndrome MONDO MONDO:0012880,MONDO:0015218,MONDO:0015501,MONDO:0015506,MONDO:0015620,MONDO:0015621,MONDO:0015890,MONDO:0015958,MONDO:0018036,MONDO:0018399,MONDO:0019589,MONDO:0019721,MONDO:0020237,MONDO:0021635,MONDO:0043007 subclass MONDO:0008965 CHARGE syndrome MedDRA MedDRA:10064063 one_to_one MONDO:0008965 CHARGE syndrome NCIT NCIT:C75100 one_to_one MONDO:0008965 CHARGE syndrome OMIM OMIM:214800 one_to_one MONDO:0008965 CHARGE syndrome Orphanet Orphanet:138 one_to_one MONDO:0008965 CHARGE syndrome SCTID SCTID:47535005 one_to_one MONDO:0008965 CHARGE syndrome UMLS UMLS:C0265354 one_to_one +MONDO:0008965 CHARGE syndrome http http://identifiers.org/hgnc/10727 disease_has_basis_in_dysfunction_of MONDO:0008966 Aagenaes syndrome DOID DOID:6691 one_to_one MONDO:0008966 Aagenaes syndrome GARD GARD:0000370 one_to_one MONDO:0008966 Aagenaes syndrome HP HP:0001004,HP:0001394,HP:0001396 disease_has_feature @@ -51555,6 +52479,7 @@ MONDO:0008967 congenital bile acid synthesis defect 4 MESH MESH:C535444 one_to_o MONDO:0008967 congenital bile acid synthesis defect 4 MONDO MONDO:0016133,MONDO:0017753,MONDO:0018841 subclass MONDO:0008967 congenital bile acid synthesis defect 4 OMIM OMIM:214950 one_to_one MONDO:0008967 congenital bile acid synthesis defect 4 Orphanet Orphanet:79095 one_to_one +MONDO:0008967 congenital bile acid synthesis defect 4 http http://identifiers.org/hgnc/451 disease_has_basis_in_dysfunction_of MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance MESH MESH:C565856 one_to_one MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance MONDO MONDO:0003847 subclass MONDO:0008968 cholestasis with gallstone, ataxia, and visual disturbance OMIM OMIM:214980 one_to_one @@ -51575,6 +52500,7 @@ MONDO:0008970 chondrodysplasia Blomstrand type NCIT NCIT:C131420 one_to_one MONDO:0008970 chondrodysplasia Blomstrand type OMIM OMIM:215045 one_to_one MONDO:0008970 chondrodysplasia Blomstrand type Orphanet Orphanet:50945 one_to_one MONDO:0008970 chondrodysplasia Blomstrand type UMLS UMLS:C1859148 one_to_one +MONDO:0008970 chondrodysplasia Blomstrand type http http://identifiers.org/hgnc/9608 disease_has_basis_in_dysfunction_of MONDO:0008971 chondrodysplasia calcificans Metaphysealis GARD GARD:0010613 one_to_one MONDO:0008971 chondrodysplasia calcificans Metaphysealis MESH MESH:C565855 one_to_one MONDO:0008971 chondrodysplasia calcificans Metaphysealis MONDO MONDO:0000841,MONDO:0003847 subclass @@ -51587,6 +52513,7 @@ MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 MONDO MONDO:0004884,MO MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 OMIM OMIM:215100 one_to_one MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 Orphanet Orphanet:309789 one_to_one MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 UMLS UMLS:C1859133 one_to_one +MONDO:0008972 rhizomelic chondrodysplasia punctata type 1 http http://identifiers.org/hgnc/8860 disease_has_basis_in_dysfunction_of MONDO:0008973 chondrodysplasia punctata, Toriello type ICD10 ICD10:Q77.3 inexact MONDO:0008973 chondrodysplasia punctata, Toriello type MESH MESH:C565853 one_to_one MONDO:0008973 chondrodysplasia punctata, Toriello type MONDO MONDO:0015775 subclass @@ -51601,15 +52528,17 @@ MONDO:0008974 Greenberg dysplasia OMIM OMIM:215140 one_to_one MONDO:0008974 Greenberg dysplasia Orphanet Orphanet:1426 one_to_one MONDO:0008974 Greenberg dysplasia SCTID SCTID:389261002 one_to_one MONDO:0008974 Greenberg dysplasia UMLS UMLS:C2931048,UMLS:CN199524 inexact +MONDO:0008974 Greenberg dysplasia http http://identifiers.org/hgnc/6518 disease_has_basis_in_dysfunction_of MONDO:0008975 otospondylomegaepiphyseal dysplasia DOID DOID:0080026 one_to_one MONDO:0008975 otospondylomegaepiphyseal dysplasia GARD GARD:0004130 one_to_one MONDO:0008975 otospondylomegaepiphyseal dysplasia HP HP:0000926 disease_has_feature MONDO:0008975 otospondylomegaepiphyseal dysplasia ICD10 ICD10:Q77.7 inexact MONDO:0008975 otospondylomegaepiphyseal dysplasia ICD9 ICD9:759.89 inexact -MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO MONDO:0005516,MONDO:0015960,MONDO:0016761,MONDO:0019686,MONDO:0019687 subclass +MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO MONDO:0005516,MONDO:0015960,MONDO:0016761,MONDO:0019686,MONDO:0019687,MONDO:0022800 subclass MONDO:0008975 otospondylomegaepiphyseal dysplasia OMIMPS OMIMPS:184840 one_to_one MONDO:0008975 otospondylomegaepiphyseal dysplasia Orphanet Orphanet:1427 one_to_one MONDO:0008975 otospondylomegaepiphyseal dysplasia SCTID SCTID:254060000 one_to_one +MONDO:0008975 otospondylomegaepiphyseal dysplasia http http://identifiers.org/hgnc/2187 disease_has_basis_in_dysfunction_of MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome MESH MESH:C565852 one_to_one MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome MONDO MONDO:0003847 subclass MONDO:0008976 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome OMIM OMIM:215250 one_to_one @@ -51633,6 +52562,7 @@ MONDO:0008977 chondrosarcoma (disease) ONCOTREE ONCOTREE:CHS one_to_one MONDO:0008977 chondrosarcoma (disease) Orphanet Orphanet:55880 one_to_one MONDO:0008977 chondrosarcoma (disease) SCTID SCTID:443520009 one_to_one MONDO:0008977 chondrosarcoma (disease) UMLS UMLS:C0008479 one_to_one +MONDO:0008977 chondrosarcoma (disease) http http://identifiers.org/hgnc/3512 disease_has_basis_in_dysfunction_of MONDO:0008978 chordoma (disease) DOID DOID:3302 one_to_one MONDO:0008978 chordoma (disease) GARD GARD:0001303 one_to_one MONDO:0008978 chordoma (disease) HP HP:0010762 one_to_one @@ -51662,6 +52592,7 @@ MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome OMIM OMIM:215470 MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome Orphanet Orphanet:1180 one_to_one MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome SCTID SCTID:715984007 one_to_one MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome UMLS UMLS:C1859093 one_to_one +MONDO:0008980 ataxia-hypogonadism-choroidal dystrophy syndrome http http://identifiers.org/hgnc/16268 disease_has_basis_in_dysfunction_of MONDO:0008981 infantile choroidocerebral calcification syndrome GARD GARD:0001313 one_to_one MONDO:0008981 infantile choroidocerebral calcification syndrome ICD10 ICD10:G93.8 inexact MONDO:0008981 infantile choroidocerebral calcification syndrome MESH MESH:C535357 one_to_one @@ -51704,6 +52635,7 @@ MONDO:0008988 citrullinemia type I NCIT NCIT:C150601 one_to_one MONDO:0008988 citrullinemia type I OMIM OMIM:215700 one_to_one MONDO:0008988 citrullinemia type I Orphanet Orphanet:247525 one_to_one MONDO:0008988 citrullinemia type I SCTID SCTID:398680004 one_to_one +MONDO:0008988 citrullinemia type I http http://identifiers.org/hgnc/758 disease_has_basis_in_dysfunction_of MONDO:0008989 citrulline transport defect GARD GARD:0009949 one_to_one MONDO:0008989 citrulline transport defect MESH MESH:C536207 one_to_one MONDO:0008989 citrulline transport defect MONDO MONDO:0003847 subclass @@ -51747,6 +52679,7 @@ MONDO:0008995 Yunis-Varon syndrome MONDO MONDO:0002254,MONDO:0019709 subclass MONDO:0008995 Yunis-Varon syndrome OMIM OMIM:216340 one_to_one MONDO:0008995 Yunis-Varon syndrome Orphanet Orphanet:3472 one_to_one MONDO:0008995 Yunis-Varon syndrome UMLS UMLS:C1857663 one_to_one +MONDO:0008995 Yunis-Varon syndrome http http://identifiers.org/hgnc/16873 disease_has_basis_in_dysfunction_of MONDO:0008996 Joubert syndrome with hepatic defect GARD GARD:0001410 one_to_one MONDO:0008996 Joubert syndrome with hepatic defect ICD10 ICD10:Q04.3 inexact MONDO:0008996 Joubert syndrome with hepatic defect MESH MESH:C536430 one_to_one @@ -51755,6 +52688,7 @@ MONDO:0008996 Joubert syndrome with hepatic defect OMIM OMIM:216360 one_to_one MONDO:0008996 Joubert syndrome with hepatic defect Orphanet Orphanet:1454 one_to_one MONDO:0008996 Joubert syndrome with hepatic defect SCTID SCTID:721847002 one_to_one MONDO:0008996 Joubert syndrome with hepatic defect UMLS UMLS:C1857662 one_to_one +MONDO:0008996 Joubert syndrome with hepatic defect http http://identifiers.org/hgnc/28396,http://identifiers.org/hgnc/29168,http://identifiers.org/hgnc/29253 disease_has_basis_in_dysfunction_of MONDO:0008998 Cockayne syndrome type 3 GARD GARD:0001417 one_to_one MONDO:0008998 Cockayne syndrome type 3 ICD10 ICD10:Q87.8 inexact MONDO:0008998 Cockayne syndrome type 3 MONDO MONDO:0016006 subclass @@ -51769,6 +52703,7 @@ MONDO:0008999 Cohen syndrome OMIM OMIM:216550 one_to_one MONDO:0008999 Cohen syndrome Orphanet Orphanet:193 one_to_one MONDO:0008999 Cohen syndrome SCTID SCTID:56604005 one_to_one MONDO:0008999 Cohen syndrome UMLS UMLS:C1854061 one_to_one +MONDO:0008999 Cohen syndrome http http://identifiers.org/hgnc/2183 disease_has_basis_in_dysfunction_of MONDO:0009000 familial reactive perforating collagenosis GARD GARD:0013331 one_to_one MONDO:0009000 familial reactive perforating collagenosis ICD10 ICD10:L87.1 one_to_one MONDO:0009000 familial reactive perforating collagenosis MESH MESH:C565687 one_to_one @@ -51786,11 +52721,13 @@ MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome UMLS UMLS:C18 MONDO:0009002 coloboma, ocular, autosomal recessive MONDO MONDO:0016023 subclass MONDO:0009002 coloboma, ocular, autosomal recessive OMIM OMIM:216820 one_to_one MONDO:0009002 coloboma, ocular, autosomal recessive UMLS UMLS:C4011974 one_to_one +MONDO:0009002 coloboma, ocular, autosomal recessive http http://identifiers.org/hgnc/10526 disease_has_basis_in_dysfunction_of MONDO:0009003 achromatopsia 2 DOID DOID:0110007 one_to_one MONDO:0009003 achromatopsia 2 GARD GARD:0009649 one_to_one MONDO:0009003 achromatopsia 2 MONDO MONDO:0018852 subclass MONDO:0009003 achromatopsia 2 OMIM OMIM:216900 one_to_one MONDO:0009003 achromatopsia 2 UMLS UMLS:C1857618 one_to_one +MONDO:0009003 achromatopsia 2 http http://identifiers.org/hgnc/2150 disease_has_basis_in_dysfunction_of MONDO:0009004 combined inflammatory and immunologic defect MESH MESH:C565684 one_to_one MONDO:0009004 combined inflammatory and immunologic defect MONDO MONDO:0003847 subclass MONDO:0009004 combined inflammatory and immunologic defect OMIM OMIM:216920 one_to_one @@ -51799,13 +52736,15 @@ MONDO:0009005 complement component C1r/C1s deficiency MONDO MONDO:0000015,MONDO: MONDO:0009005 complement component C1r/C1s deficiency NCIT NCIT:C119991 one_to_one MONDO:0009005 complement component C1r/C1s deficiency OMIM OMIM:216950 one_to_one MONDO:0009005 complement component C1r/C1s deficiency UMLS UMLS:C3150274 one_to_one +MONDO:0009005 complement component C1r/C1s deficiency http http://identifiers.org/hgnc/1246 disease_has_basis_in_dysfunction_of MONDO:0009006 complement component 2 deficiency DOID DOID:0060295 one_to_one MONDO:0009006 complement component 2 deficiency GARD GARD:0001452 one_to_one MONDO:0009006 complement component 2 deficiency ICD10 ICD10:D84.1 inexact -MONDO:0009006 complement component 2 deficiency MONDO MONDO:0000015,MONDO:0015699 subclass +MONDO:0009006 complement component 2 deficiency MONDO MONDO:0000015,MONDO:0003832,MONDO:0015699 subclass MONDO:0009006 complement component 2 deficiency NCIT NCIT:C119992 one_to_one MONDO:0009006 complement component 2 deficiency OMIM OMIM:217000 one_to_one MONDO:0009006 complement component 2 deficiency UMLS UMLS:C3150275 one_to_one +MONDO:0009006 complement component 2 deficiency http http://identifiers.org/hgnc/1248 disease_has_basis_in_dysfunction_of MONDO:0009007 Jalili syndrome GARD GARD:0001463 one_to_one MONDO:0009007 Jalili syndrome ICD10 ICD10:H35.5 inexact MONDO:0009007 Jalili syndrome ICD9 ICD9:362.75,ICD9:520.5 inexact @@ -51815,6 +52754,7 @@ MONDO:0009007 Jalili syndrome OMIM OMIM:217080 one_to_one MONDO:0009007 Jalili syndrome Orphanet Orphanet:1873 one_to_one MONDO:0009007 Jalili syndrome SCTID SCTID:707608003 one_to_one MONDO:0009007 Jalili syndrome UMLS UMLS:C3495589,UMLS:CN200616 inexact +MONDO:0009007 Jalili syndrome http http://identifiers.org/hgnc/105 disease_has_basis_in_dysfunction_of MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome GARD GARD:0002612,GARD:0004166 inexact MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome MESH MESH:C535849 one_to_one @@ -51822,6 +52762,7 @@ MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome MONDO MONDO: MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome OMIM OMIM:217085 one_to_one MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome Orphanet Orphanet:1338 one_to_one MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome UMLS UMLS:C2931046 one_to_one +MONDO:0009008 heart defect-tongue hamartoma-polysyndactyly syndrome http http://identifiers.org/hgnc/28027 disease_has_basis_in_dysfunction_of MONDO:0009009 hypoplasminogenemia GARD GARD:0004380 one_to_one MONDO:0009009 hypoplasminogenemia ICD10 ICD10:L90.5 one_to_one MONDO:0009009 hypoplasminogenemia MESH MESH:C580017 one_to_one @@ -51830,6 +52771,7 @@ MONDO:0009009 hypoplasminogenemia OMIM OMIM:217090 one_to_one MONDO:0009009 hypoplasminogenemia Orphanet Orphanet:722 one_to_one MONDO:0009009 hypoplasminogenemia SCTID SCTID:95840007 one_to_one MONDO:0009009 hypoplasminogenemia UMLS UMLS:C0398621,UMLS:C1968804 inexact +MONDO:0009009 hypoplasminogenemia http http://identifiers.org/hgnc/9071 disease_has_basis_in_dysfunction_of MONDO:0009010 aortic arch interruption GARD GARD:0000740 one_to_one MONDO:0009010 aortic arch interruption ICD10 ICD10:Q20.1,ICD10:Q25.21,ICD10:Q25.4 inexact MONDO:0009010 aortic arch interruption ICD9 ICD9:745.11 one_to_one @@ -51852,9 +52794,10 @@ MONDO:0009013 convulsive disorder, familial, with prenatal or early onset MONDO MONDO:0009013 convulsive disorder, familial, with prenatal or early onset OMIM OMIM:217200 one_to_one MONDO:0009013 convulsive disorder, familial, with prenatal or early onset UMLS UMLS:C1857575 one_to_one MONDO:0009014 cornea plana 2 MESH MESH:C565677 one_to_one -MONDO:0009014 cornea plana 2 MONDO MONDO:0018888 subclass +MONDO:0009014 cornea plana 2 MONDO MONDO:0000733,MONDO:0018888 subclass MONDO:0009014 cornea plana 2 OMIM OMIM:217300 one_to_one MONDO:0009014 cornea plana 2 UMLS UMLS:C1857574 one_to_one +MONDO:0009014 cornea plana 2 http http://identifiers.org/hgnc/6309 disease_has_basis_in_dysfunction_of MONDO:0009015 corneal dystrophy-perceptive deafness syndrome GARD GARD:0001529 one_to_one MONDO:0009015 corneal dystrophy-perceptive deafness syndrome ICD10 ICD10:H18.5 inexact MONDO:0009015 corneal dystrophy-perceptive deafness syndrome MESH MESH:C535473 one_to_one @@ -51863,6 +52806,7 @@ MONDO:0009015 corneal dystrophy-perceptive deafness syndrome OMIM OMIM:217400 on MONDO:0009015 corneal dystrophy-perceptive deafness syndrome Orphanet Orphanet:1490 one_to_one MONDO:0009015 corneal dystrophy-perceptive deafness syndrome SCTID SCTID:720749004 one_to_one MONDO:0009015 corneal dystrophy-perceptive deafness syndrome UMLS UMLS:C1857572 one_to_one +MONDO:0009015 corneal dystrophy-perceptive deafness syndrome http http://identifiers.org/hgnc/16438 disease_has_basis_in_dysfunction_of MONDO:0009016 band keratopathy COHD COHD:436695 one_to_one MONDO:0009016 band keratopathy DOID DOID:11164 one_to_one MONDO:0009016 band keratopathy ICD10 ICD10:H18.42 one_to_one @@ -51889,6 +52833,7 @@ MONDO:0009019 congenital hereditary endothelial dystrophy of cornea MESH MESH:C5 MONDO:0009019 congenital hereditary endothelial dystrophy of cornea MONDO MONDO:0000766,MONDO:0020214 subclass MONDO:0009019 congenital hereditary endothelial dystrophy of cornea OMIM OMIM:217700 one_to_one MONDO:0009019 congenital hereditary endothelial dystrophy of cornea Orphanet Orphanet:293603 one_to_one +MONDO:0009019 congenital hereditary endothelial dystrophy of cornea http http://identifiers.org/hgnc/16438 disease_has_basis_in_dysfunction_of MONDO:0009020 macular corneal dystrophy DOID DOID:2565 one_to_one MONDO:0009020 macular corneal dystrophy GARD GARD:0006953 one_to_one MONDO:0009020 macular corneal dystrophy ICD10 ICD10:H18.5,ICD10:H18.55 inexact @@ -51900,6 +52845,7 @@ MONDO:0009020 macular corneal dystrophy OMIM OMIM:217800 one_to_one MONDO:0009020 macular corneal dystrophy Orphanet Orphanet:98969 one_to_one MONDO:0009020 macular corneal dystrophy SCTID SCTID:60258001 one_to_one MONDO:0009020 macular corneal dystrophy UMLS UMLS:C0024439 one_to_one +MONDO:0009020 macular corneal dystrophy http http://identifiers.org/hgnc/6938 disease_has_basis_in_dysfunction_of MONDO:0009021 Toriello-Carey syndrome GARD GARD:0005225 one_to_one MONDO:0009021 Toriello-Carey syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009021 Toriello-Carey syndrome MESH MESH:C563127 one_to_one @@ -51925,10 +52871,12 @@ 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 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 MONDO:0009025 apparent mineralocorticoid excess SCTID SCTID:703256004 one_to_one MONDO:0009025 apparent mineralocorticoid excess UMLS UMLS:C2936861,UMLS:C3887949,UMLS:CN203981 inexact +MONDO:0009025 apparent mineralocorticoid excess http http://identifiers.org/hgnc/5209 disease_has_basis_in_dysfunction_of MONDO:0009026 Costello syndrome DOID DOID:0050469 one_to_one MONDO:0009026 Costello syndrome GARD GARD:0001550 one_to_one MONDO:0009026 Costello syndrome ICD10 ICD10:Q87.8 inexact @@ -51941,6 +52889,7 @@ MONDO:0009026 Costello syndrome OMIM OMIM:218040 one_to_one MONDO:0009026 Costello syndrome Orphanet Orphanet:3071 one_to_one MONDO:0009026 Costello syndrome SCTID SCTID:309776008 one_to_one MONDO:0009026 Costello syndrome UMLS UMLS:C0587248 one_to_one +MONDO:0009026 Costello syndrome http http://identifiers.org/hgnc/5173 disease_has_basis_in_dysfunction_of MONDO:0009027 cramps, familial adolescent MONDO MONDO:0003847 subclass MONDO:0009027 cramps, familial adolescent OMIM OMIM:218050 one_to_one MONDO:0009028 Crane-Heise syndrome GARD GARD:0008428 one_to_one @@ -51989,6 +52938,7 @@ MONDO:0009033 temtamy syndrome OMIM OMIM:218340 one_to_one MONDO:0009033 temtamy syndrome Orphanet Orphanet:1777 one_to_one MONDO:0009033 temtamy syndrome SCTID SCTID:719947004 one_to_one MONDO:0009033 temtamy syndrome UMLS UMLS:C1857512 one_to_one +MONDO:0009033 temtamy syndrome http http://identifiers.org/hgnc/29521 disease_has_basis_in_dysfunction_of MONDO:0009034 craniofacial dyssynostosis GARD GARD:0001575 one_to_one MONDO:0009034 craniofacial dyssynostosis ICD10 ICD10:Q87.0 inexact MONDO:0009034 craniofacial dyssynostosis MESH MESH:C536455 one_to_one @@ -52001,6 +52951,7 @@ MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive HP HP:0000007 has MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive MESH MESH:C536570 one_to_one MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive MONDO MONDO:0006025,MONDO:0015465,MONDO:0015958,MONDO:0015960,MONDO:0042973 subclass MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive OMIM OMIM:218400 one_to_one +MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive http http://identifiers.org/hgnc/4274 disease_has_basis_in_dysfunction_of 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 @@ -52028,6 +52979,7 @@ MONDO:0009039 Baller-Gerold syndrome OMIM OMIM:218600 one_to_one MONDO:0009039 Baller-Gerold syndrome Orphanet Orphanet:1225 one_to_one MONDO:0009039 Baller-Gerold syndrome SCTID SCTID:77608001 one_to_one MONDO:0009039 Baller-Gerold syndrome UMLS UMLS:C0265308 one_to_one +MONDO:0009039 Baller-Gerold syndrome http http://identifiers.org/hgnc/9949 disease_has_basis_in_dysfunction_of MONDO:0009040 craniosynostosis-mental retardation syndrome of 51N and Gettig GARD GARD:0010282 one_to_one MONDO:0009040 craniosynostosis-mental retardation syndrome of 51N and Gettig MESH MESH:C565664 one_to_one MONDO:0009040 craniosynostosis-mental retardation syndrome of 51N and Gettig MONDO MONDO:0003847 subclass @@ -52049,6 +53001,7 @@ 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 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 MONDO:0009044 Crigler-Najjar syndrome ICD10 ICD10:E80.5 inexact MONDO:0009044 Crigler-Najjar syndrome MESH MESH:D003414 one_to_one @@ -52077,6 +53030,7 @@ MONDO:0009046 Fraser syndrome OMIMPS OMIMPS:219000 one_to_one MONDO:0009046 Fraser syndrome Orphanet Orphanet:2052 one_to_one MONDO:0009046 Fraser syndrome SCTID SCTID:204102004 one_to_one MONDO:0009046 Fraser syndrome UMLS UMLS:C0265233 one_to_one +MONDO:0009046 Fraser syndrome http http://identifiers.org/hgnc/18708,http://identifiers.org/hgnc/19185,http://identifiers.org/hgnc/25396 disease_has_basis_in_dysfunction_of MONDO:0009047 cryptorchidism (disease) COHD COHD:437655 one_to_one MONDO:0009047 cryptorchidism (disease) DOID DOID:11383 one_to_one MONDO:0009047 cryptorchidism (disease) EFO EFO:0004562 one_to_one @@ -52088,6 +53042,7 @@ MONDO:0009047 cryptorchidism (disease) MONDO MONDO:0000839,MONDO:0003150,MONDO:0 MONDO:0009047 cryptorchidism (disease) NCIT NCIT:C12326 one_to_one MONDO:0009047 cryptorchidism (disease) OMIM OMIM:219050 one_to_one MONDO:0009047 cryptorchidism (disease) SCTID SCTID:204878001 one_to_one +MONDO:0009047 cryptorchidism (disease) http http://identifiers.org/hgnc/17318,http://identifiers.org/hgnc/6086 disease_has_basis_in_dysfunction_of MONDO:0009048 curved nail of fourth toe MONDO MONDO:0003847 subclass 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 @@ -52098,6 +53053,7 @@ MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia OMIM OMIM 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 @@ -52109,6 +53065,7 @@ 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: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 @@ -52121,10 +53078,10 @@ MONDO:0009052 cutis laxa, autosomal recessive, type 1A HP HP:0000007 has_modifie MONDO:0009052 cutis laxa, autosomal recessive, type 1A ICD10 ICD10:Q82.8 inexact MONDO:0009052 cutis laxa, autosomal recessive, type 1A MESH MESH:C562628 one_to_one MONDO:0009052 cutis laxa, autosomal recessive, type 1A MONDO MONDO:0016175,MONDO:0019572 subclass -MONDO:0009052 cutis laxa, autosomal recessive, type 1A NCBIGene NCBIGene:2006 disease_has_basis_in_dysfunction_of MONDO:0009052 cutis laxa, autosomal recessive, type 1A OMIM OMIM:219100 one_to_one MONDO:0009052 cutis laxa, autosomal recessive, type 1A SCTID SCTID:59451000 one_to_one MONDO:0009052 cutis laxa, autosomal recessive, type 1A UMLS UMLS:CN033664 one_to_one +MONDO:0009052 cutis laxa, autosomal recessive, type 1A http http://identifiers.org/hgnc/3327,http://identifiers.org/hgnc/3602 disease_has_basis_in_dysfunction_of MONDO:0009053 ALDH18A1-related de Barsy syndrome DOID DOID:0070132 one_to_one MONDO:0009053 ALDH18A1-related de Barsy syndrome ICD10 ICD10:Q82.8,ICD10:Q87.8 inexact MONDO:0009053 ALDH18A1-related de Barsy syndrome ICD9 ICD9:371.89 inexact @@ -52132,6 +53089,7 @@ MONDO:0009053 ALDH18A1-related de Barsy syndrome MONDO MONDO:0017569 subclass MONDO:0009053 ALDH18A1-related de Barsy syndrome OMIM OMIM:219150 one_to_one MONDO:0009053 ALDH18A1-related de Barsy syndrome Orphanet Orphanet:35664 one_to_one MONDO:0009053 ALDH18A1-related de Barsy syndrome SCTID SCTID:59252009 one_to_one +MONDO:0009053 ALDH18A1-related de Barsy syndrome http http://identifiers.org/hgnc/9722 disease_has_basis_in_dysfunction_of MONDO:0009054 autosomal recessive cutis laxa type 2, classic type DOID DOID:0070136,DOID:0070141 inexact MONDO:0009054 autosomal recessive cutis laxa type 2, classic type GARD GARD:0001638 one_to_one MONDO:0009054 autosomal recessive cutis laxa type 2, classic type ICD10 ICD10:Q82.8 inexact @@ -52140,6 +53098,7 @@ MONDO:0009054 autosomal recessive cutis laxa type 2, classic type MONDO MONDO:00 MONDO:0009054 autosomal recessive cutis laxa type 2, classic type OMIM OMIM:219200 one_to_one MONDO:0009054 autosomal recessive cutis laxa type 2, classic type Orphanet Orphanet:357074 one_to_one MONDO:0009054 autosomal recessive cutis laxa type 2, classic type SCTID SCTID:73856006 one_to_one +MONDO:0009054 autosomal recessive cutis laxa type 2, classic type http http://identifiers.org/hgnc/18481 disease_has_basis_in_dysfunction_of MONDO:0009055 cutis marmorata telangiectatica congenita (disease) GARD GARD:0006228 one_to_one MONDO:0009055 cutis marmorata telangiectatica congenita (disease) HP HP:0025107 one_to_one MONDO:0009055 cutis marmorata telangiectatica congenita (disease) ICD10 ICD10:Q82.8 inexact @@ -52151,6 +53110,7 @@ MONDO:0009055 cutis marmorata telangiectatica congenita (disease) Orphanet Orpha MONDO:0009055 cutis marmorata telangiectatica congenita (disease) SCTID SCTID:254778000 one_to_one MONDO:0009056 cutis verticis gyrata and mental retardation MONDO MONDO:0003847 subclass MONDO:0009056 cutis verticis gyrata and mental retardation OMIM OMIM:219300 one_to_one +MONDO:0009056 cutis verticis gyrata and mental retardation Orphanet Orphanet:1557 one_to_one MONDO:0009056 cutis verticis gyrata and mental retardation UMLS UMLS:C1857444 one_to_one MONDO:0009057 cyanosis and hepatic disease MESH MESH:C565660 one_to_one MONDO:0009057 cyanosis and hepatic disease MONDO MONDO:0003847 subclass @@ -52166,6 +53126,7 @@ MONDO:0009058 cystathioninuria (disease) OMIM OMIM:219500 one_to_one MONDO:0009058 cystathioninuria (disease) Orphanet Orphanet:212 one_to_one MONDO:0009058 cystathioninuria (disease) SCTID SCTID:13003007 one_to_one MONDO:0009058 cystathioninuria (disease) UMLS UMLS:C0220993,UMLS:C0268616,UMLS:C3495552 inexact +MONDO:0009058 cystathioninuria (disease) http http://identifiers.org/hgnc/2501 disease_has_basis_in_dysfunction_of MONDO:0009059 cysteine Peptiduria MESH MESH:C565659 one_to_one MONDO:0009059 cysteine Peptiduria MONDO MONDO:0003847 subclass MONDO:0009059 cysteine Peptiduria OMIM OMIM:219550 one_to_one @@ -52187,6 +53148,7 @@ MONDO:0009061 cystic fibrosis OMIM OMIM:219700 one_to_one MONDO:0009061 cystic fibrosis Orphanet Orphanet:586 one_to_one MONDO:0009061 cystic fibrosis SCTID SCTID:190905008 one_to_one MONDO:0009061 cystic fibrosis UMLS UMLS:C0010674 one_to_one +MONDO:0009061 cystic fibrosis http http://identifiers.org/hgnc/11766,http://identifiers.org/hgnc/1884 disease_has_basis_in_dysfunction_of MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome GARD GARD:0003303 one_to_one MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MESH MESH:C537039 one_to_one MONDO:0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome MONDO MONDO:0015111,MONDO:0015617 subclass @@ -52197,16 +53159,20 @@ MONDO:0009063 ventriculomegaly-cystic kidney disease MONDO MONDO:0015960,MONDO:0 MONDO:0009063 ventriculomegaly-cystic kidney disease OMIM OMIM:219730 one_to_one MONDO:0009063 ventriculomegaly-cystic kidney disease Orphanet Orphanet:443988 one_to_one MONDO:0009063 ventriculomegaly-cystic kidney disease UMLS UMLS:C1857423 one_to_one +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 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 +MONDO:0009064 ocular cystinosis http http://identifiers.org/hgnc/2518 disease_has_basis_in_dysfunction_of MONDO:0009065 cystinosis, nephropathic GARD GARD:0009755 one_to_one MONDO:0009065 cystinosis, nephropathic MONDO MONDO:0016239 subclass MONDO:0009065 cystinosis, nephropathic NCIT NCIT:C129932 one_to_one MONDO:0009065 cystinosis, nephropathic OMIM OMIM:219800 one_to_one +MONDO:0009065 cystinosis, nephropathic http http://identifiers.org/hgnc/2518 disease_has_basis_in_dysfunction_of +MONDO:0009066 juvenile nephropathic cystinosis EFO EFO:0009049 one_to_one MONDO:0009066 juvenile nephropathic cystinosis ICD10 ICD10:E72.0+,ICD10:N16.3* inexact MONDO:0009066 juvenile nephropathic cystinosis MESH MESH:C562683 one_to_one MONDO:0009066 juvenile nephropathic cystinosis MONDO MONDO:0016239,MONDO:0019743 subclass @@ -52214,6 +53180,7 @@ MONDO:0009066 juvenile nephropathic cystinosis OMIM OMIM:219900 one_to_one MONDO:0009066 juvenile nephropathic cystinosis Orphanet Orphanet:411634 one_to_one MONDO:0009066 juvenile nephropathic cystinosis SCTID SCTID:22830006 one_to_one MONDO:0009066 juvenile nephropathic cystinosis UMLS UMLS:C0268626 one_to_one +MONDO:0009066 juvenile nephropathic cystinosis http http://identifiers.org/hgnc/2518 disease_has_basis_in_dysfunction_of MONDO:0009067 cystinuria (disease) DOID DOID:9266 one_to_one MONDO:0009067 cystinuria (disease) GARD GARD:0006237 one_to_one MONDO:0009067 cystinuria (disease) HP HP:0003131 one_to_one @@ -52226,6 +53193,7 @@ MONDO:0009067 cystinuria (disease) OMIM OMIM:220100 one_to_one MONDO:0009067 cystinuria (disease) Orphanet Orphanet:214 one_to_one MONDO:0009067 cystinuria (disease) SCTID SCTID:85020001 one_to_one MONDO:0009067 cystinuria (disease) UMLS UMLS:C0010691 one_to_one +MONDO:0009067 cystinuria (disease) http http://identifiers.org/hgnc/11025,http://identifiers.org/hgnc/11067 disease_has_basis_in_dysfunction_of MONDO:0009068 cytochrome-c oxidase deficiency disease DOID DOID:3762 one_to_one MONDO:0009068 cytochrome-c oxidase deficiency disease GARD GARD:0000048 one_to_one MONDO:0009068 cytochrome-c oxidase deficiency disease ICD10 ICD10:E88.8 inexact @@ -52236,6 +53204,7 @@ MONDO:0009068 cytochrome-c oxidase deficiency disease OMIM OMIM:220110 one_to_on MONDO:0009068 cytochrome-c oxidase deficiency disease Orphanet Orphanet:254905 one_to_one MONDO:0009068 cytochrome-c oxidase deficiency disease SCTID SCTID:67434000 one_to_one MONDO:0009068 cytochrome-c oxidase deficiency disease UMLS UMLS:C0268237 one_to_one +MONDO:0009068 cytochrome-c oxidase deficiency disease http http://identifiers.org/hgnc/10603,http://identifiers.org/hgnc/20492,http://identifiers.org/hgnc/2260,http://identifiers.org/hgnc/2280,http://identifiers.org/hgnc/24316,http://identifiers.org/hgnc/25716,http://identifiers.org/hgnc/26970,http://identifiers.org/hgnc/28216,http://identifiers.org/hgnc/29160,http://identifiers.org/hgnc/33848,http://identifiers.org/hgnc/40038,http://identifiers.org/hgnc/7493,http://identifiers.org/hgnc/7497 disease_has_basis_in_dysfunction_of MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type GARD GARD:0008370 one_to_one MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type ICD10 ICD10:G31.8 inexact MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type MESH MESH:C537004 one_to_one @@ -52243,6 +53212,7 @@ MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type MONDO MON MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type OMIM OMIM:220111 one_to_one MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type Orphanet Orphanet:70472 one_to_one MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type SCTID SCTID:718219002 one_to_one +MONDO:0009069 congenital lactic acidosis, Saguenay-Lac-saint-Jean type http http://identifiers.org/hgnc/15714 disease_has_basis_in_dysfunction_of MONDO:0009070 D-glyceric aciduria GARD GARD:0000234 one_to_one MONDO:0009070 D-glyceric aciduria ICD10 ICD10:E74.8 inexact MONDO:0009070 D-glyceric aciduria MESH MESH:C535767 one_to_one @@ -52252,6 +53222,7 @@ MONDO:0009070 D-glyceric aciduria OMIM OMIM:220120 one_to_one MONDO:0009070 D-glyceric aciduria Orphanet Orphanet:941 one_to_one MONDO:0009070 D-glyceric aciduria SCTID SCTID:237980004 one_to_one MONDO:0009070 D-glyceric aciduria UMLS UMLS:C0342765,UMLS:C1291386 inexact +MONDO:0009070 D-glyceric aciduria http http://identifiers.org/hgnc/24247 disease_has_basis_in_dysfunction_of MONDO:0009071 hereditary renal hypouricemia GARD GARD:0009496 one_to_one MONDO:0009071 hereditary renal hypouricemia ICD9 ICD9:790.6 inexact MONDO:0009071 hereditary renal hypouricemia MESH MESH:C537757 one_to_one @@ -52259,6 +53230,7 @@ MONDO:0009071 hereditary renal hypouricemia MONDO MONDO:0015962,MONDO:0019744 su MONDO:0009071 hereditary renal hypouricemia OMIM OMIM:220150 one_to_one MONDO:0009071 hereditary renal hypouricemia Orphanet Orphanet:94088 one_to_one MONDO:0009071 hereditary renal hypouricemia SCTID SCTID:236478009 one_to_one +MONDO:0009071 hereditary renal hypouricemia http http://identifiers.org/hgnc/17989 disease_has_basis_in_dysfunction_of MONDO:0009072 Dandy-Walker syndrome COHD COHD:4031189 one_to_one MONDO:0009072 Dandy-Walker syndrome DOID DOID:2785 one_to_one MONDO:0009072 Dandy-Walker syndrome EFO EFO:1000890 one_to_one @@ -52274,8 +53246,8 @@ MONDO:0009072 Dandy-Walker syndrome SCTID SCTID:14447001 one_to_one MONDO:0009072 Dandy-Walker syndrome UMLS UMLS:C0010964 one_to_one MONDO:0009073 Ritscher-Schinzel syndrome 1 DOID DOID:0060571 one_to_one MONDO:0009073 Ritscher-Schinzel syndrome 1 MONDO MONDO:0019078 subclass -MONDO:0009073 Ritscher-Schinzel syndrome 1 NCBIGene NCBIGene:9897 disease_has_basis_in_dysfunction_of MONDO:0009073 Ritscher-Schinzel syndrome 1 OMIM OMIM:220210 one_to_one +MONDO:0009073 Ritscher-Schinzel syndrome 1 http http://identifiers.org/hgnc/28984 disease_has_basis_in_dysfunction_of MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MESH MESH:C535985 one_to_one MONDO:0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0017121 subclass @@ -52293,9 +53265,10 @@ MONDO:0009076 autosomal recessive nonsyndromic deafness 1A DOID DOID:0110475 one MONDO:0009076 autosomal recessive nonsyndromic deafness 1A GARD GARD:0001697 one_to_one MONDO:0009076 autosomal recessive nonsyndromic deafness 1A ICD10 ICD10:H90.3 inexact MONDO:0009076 autosomal recessive nonsyndromic deafness 1A MESH MESH:C567134 one_to_one -MONDO:0009076 autosomal recessive nonsyndromic deafness 1A MONDO MONDO:0019588 subclass +MONDO:0009076 autosomal recessive nonsyndromic deafness 1A MONDO MONDO:0012977 subclass MONDO:0009076 autosomal recessive nonsyndromic deafness 1A NCIT NCIT:C129022 one_to_one MONDO:0009076 autosomal recessive nonsyndromic deafness 1A OMIM OMIM:220290 one_to_one +MONDO:0009076 autosomal recessive nonsyndromic deafness 1A http http://identifiers.org/hgnc/4284,http://identifiers.org/hgnc/4285 disease_has_basis_in_dysfunction_of MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy MESH MESH:C565649 one_to_one MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy MONDO MONDO:0003847 subclass MONDO:0009077 deafness, congenital, and familial myoclonic epilepsy OMIM OMIM:220300 one_to_one @@ -52323,6 +53296,7 @@ MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss MON MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss OMIM OMIM:220600 one_to_one MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss Orphanet Orphanet:71271 one_to_one MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss UMLS UMLS:C1857344 one_to_one +MONDO:0009080 split hand-foot malformation 1 with sensorineural hearing loss http http://identifiers.org/hgnc/2918 disease_has_basis_in_dysfunction_of MONDO:0009081 deafness, congenital, with total albinism HP HP:0000365,HP:0001022 disease_has_major_feature MONDO:0009081 deafness, congenital, with total albinism MESH MESH:C565646 one_to_one MONDO:0009081 deafness, congenital, with total albinism MONDO MONDO:0019290,MONDO:0024255 subclass @@ -52334,6 +53308,7 @@ MONDO:0009082 high myopia-sensorineural deafness syndrome MONDO MONDO:0019589,MO MONDO:0009082 high myopia-sensorineural deafness syndrome OMIM OMIM:221200 one_to_one MONDO:0009082 high myopia-sensorineural deafness syndrome Orphanet Orphanet:363396 one_to_one MONDO:0009082 high myopia-sensorineural deafness syndrome UMLS UMLS:CN204687 one_to_one +MONDO:0009082 high myopia-sensorineural deafness syndrome http http://identifiers.org/hgnc/23503 disease_has_basis_in_dysfunction_of MONDO:0009083 conductive deafness-malformed external ear syndrome GARD GARD:0001460 one_to_one MONDO:0009083 conductive deafness-malformed external ear syndrome MESH MESH:C565644 one_to_one MONDO:0009083 conductive deafness-malformed external ear syndrome MONDO MONDO:0019589 subclass @@ -52384,6 +53359,7 @@ MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abno MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities OMIM OMIM:221750 one_to_one MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities Orphanet Orphanet:231720 one_to_one MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities UMLS UMLS:C3489787 one_to_one +MONDO:0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities http http://identifiers.org/hgnc/6595 disease_has_basis_in_dysfunction_of MONDO:0009092 Nasu-Hakola disease DOID DOID:0090112 one_to_one MONDO:0009092 Nasu-Hakola disease GARD GARD:0009921,GARD:9921 inexact MONDO:0009092 Nasu-Hakola disease ICD10 ICD10:E75.2 inexact @@ -52394,6 +53370,7 @@ MONDO:0009092 Nasu-Hakola disease OMIM OMIM:221770 one_to_one MONDO:0009092 Nasu-Hakola disease Orphanet Orphanet:2770 one_to_one MONDO:0009092 Nasu-Hakola disease SCTID SCTID:702347001 one_to_one MONDO:0009092 Nasu-Hakola disease UMLS UMLS:C1857316 one_to_one +MONDO:0009092 Nasu-Hakola disease http http://identifiers.org/hgnc/12449,http://identifiers.org/hgnc/17761 disease_has_basis_in_dysfunction_of MONDO:0009093 Dermatoleukodystrophy GARD GARD:0001813 one_to_one MONDO:0009093 Dermatoleukodystrophy ICD10 ICD10:E75.2 inexact MONDO:0009093 Dermatoleukodystrophy MESH MESH:C538220 one_to_one @@ -52425,6 +53402,7 @@ MONDO:0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and p MONDO:0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia Orphanet Orphanet:313808 one_to_one MONDO:0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia SCTID SCTID:702427005 one_to_one MONDO:0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia UMLS UMLS:C3711381 one_to_one +MONDO:0009096 hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia http http://identifiers.org/hgnc/2433 disease_has_basis_in_dysfunction_of MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive HP HP:0000007 has_modifier MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive MONDO MONDO:0006025,MONDO:0019631 subclass MONDO:0009097 persistent hyperplastic primary vitreous, autosomal recessive OMIM OMIM:221900 one_to_one @@ -52440,13 +53418,14 @@ MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome OMIM OMIM:221995 one_to_one MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome Orphanet Orphanet:3145 one_to_one MONDO:0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome SCTID SCTID:716200002 one_to_one -MONDO:0009100 IDDM 1 MONDO MONDO:0015886 subclass +MONDO:0009100 IDDM 1 MONDO MONDO:0012919,MONDO:0015886 subclass MONDO:0009100 IDDM 1 OMIM OMIM:222100 one_to_one +MONDO:0009100 IDDM 1 http http://identifiers.org/hgnc/6106,http://identifiers.org/hgnc/6182,http://identifiers.org/hgnc/8086,http://identifiers.org/hgnc/9652 disease_has_basis_in_dysfunction_of MONDO:0009101 Wolfram syndrome 1 DOID DOID:0110629 one_to_one MONDO:0009101 Wolfram syndrome 1 ICD10 ICD10:E13.8 inexact MONDO:0009101 Wolfram syndrome 1 MONDO MONDO:0018105 subclass -MONDO:0009101 Wolfram syndrome 1 NCBIGene NCBIGene:7466 disease_has_basis_in_dysfunction_of MONDO:0009101 Wolfram syndrome 1 OMIM OMIM:222300 one_to_one +MONDO:0009101 Wolfram syndrome 1 http http://identifiers.org/hgnc/12762 disease_has_basis_in_dysfunction_of MONDO:0009102 Diaminopentanuria MESH MESH:C565630 one_to_one MONDO:0009102 Diaminopentanuria MONDO MONDO:0003847 subclass MONDO:0009102 Diaminopentanuria OMIM OMIM:222350 one_to_one @@ -52464,6 +53443,7 @@ MONDO:0009104 Donnai-Barrow syndrome OMIM OMIM:222448 one_to_one MONDO:0009104 Donnai-Barrow syndrome Orphanet Orphanet:2143 one_to_one MONDO:0009104 Donnai-Barrow syndrome SCTID SCTID:702418009 one_to_one MONDO:0009104 Donnai-Barrow syndrome UMLS UMLS:C1857277 one_to_one +MONDO:0009104 Donnai-Barrow syndrome http http://identifiers.org/hgnc/6694 disease_has_basis_in_dysfunction_of MONDO:0009105 tricho-hepato-enteric syndrome GARD GARD:0005258 one_to_one MONDO:0009105 tricho-hepato-enteric syndrome MONDO MONDO:0015508,MONDO:0015616,MONDO:0015710,MONDO:0018782,MONDO:0019126 subclass MONDO:0009105 tricho-hepato-enteric syndrome OMIMPS OMIMPS:222470 one_to_one @@ -52490,6 +53470,7 @@ MONDO:0009107 diastrophic dysplasia MONDO MONDO:0005516,MONDO:0015960,MONDO:0018 MONDO:0009107 diastrophic dysplasia OMIM OMIM:222600 one_to_one MONDO:0009107 diastrophic dysplasia Orphanet Orphanet:628 one_to_one MONDO:0009107 diastrophic dysplasia SCTID SCTID:58561002 one_to_one +MONDO:0009107 diastrophic dysplasia http http://identifiers.org/hgnc/10994 disease_has_basis_in_dysfunction_of MONDO:0009108 hyperdibasic aminoaciduria type 1 GARD GARD:0001854 one_to_one MONDO:0009108 hyperdibasic aminoaciduria type 1 ICD10 ICD10:E72.0 inexact MONDO:0009108 hyperdibasic aminoaciduria type 1 MESH MESH:C567132 one_to_one @@ -52509,6 +53490,7 @@ MONDO:0009109 lysinuric protein intolerance OMIM OMIM:222700 one_to_one MONDO:0009109 lysinuric protein intolerance Orphanet Orphanet:470 one_to_one MONDO:0009109 lysinuric protein intolerance SCTID SCTID:303852004 one_to_one MONDO:0009109 lysinuric protein intolerance UMLS UMLS:C0268647 one_to_one +MONDO:0009109 lysinuric protein intolerance http http://identifiers.org/hgnc/11065 disease_has_basis_in_dysfunction_of MONDO:0009110 dicarboxylic aminoaciduria DOID DOID:0060650 one_to_one MONDO:0009110 dicarboxylic aminoaciduria GARD GARD:0001855 one_to_one MONDO:0009110 dicarboxylic aminoaciduria ICD10 ICD10:E72.0 inexact @@ -52525,15 +53507,16 @@ MONDO:0009111 dihydropyrimidinuria MONDO MONDO:0019238 subclass MONDO:0009111 dihydropyrimidinuria OMIM OMIM:222748 one_to_one MONDO:0009111 dihydropyrimidinuria Orphanet Orphanet:38874 one_to_one MONDO:0009111 dihydropyrimidinuria SCTID SCTID:238014002 one_to_one +MONDO:0009111 dihydropyrimidinuria http http://identifiers.org/hgnc/3013 disease_has_basis_in_dysfunction_of MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 DOID DOID:0110852 one_to_one MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 GARD GARD:0009429 one_to_one MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 ICD10 ICD10:Q77.3 inexact MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MESH MESH:C537607 one_to_one MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 MONDO MONDO:0015776 subclass -MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 NCBIGene NCBIGene:8443 disease_has_basis_in_dysfunction_of MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 OMIM OMIM:222765 one_to_one MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 Orphanet Orphanet:309796 one_to_one MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 UMLS UMLS:C1857242 one_to_one +MONDO:0009112 rhizomelic chondrodysplasia punctata type 2 http http://identifiers.org/hgnc/4416 disease_has_basis_in_dysfunction_of MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency GARD GARD:0001874 one_to_one MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency ICD10 ICD10:D55.2 inexact MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency MONDO MONDO:0003689,MONDO:0017688,MONDO:0019602,MONDO:0020106 subclass @@ -52541,6 +53524,7 @@ MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency NCIT MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency OMIM OMIM:222800 one_to_one MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency Orphanet Orphanet:714 one_to_one MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency UMLS UMLS:C1291620 one_to_one +MONDO:0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency http http://identifiers.org/hgnc/1093 disease_has_basis_in_dysfunction_of MONDO:0009114 congenital sucrase-isomaltase deficiency GARD GARD:0007710 one_to_one MONDO:0009114 congenital sucrase-isomaltase deficiency ICD10 ICD10:E74.3 inexact MONDO:0009114 congenital sucrase-isomaltase deficiency ICD9 ICD9:271.3 inexact @@ -52552,6 +53536,7 @@ MONDO:0009114 congenital sucrase-isomaltase deficiency OMIM OMIM:222900 one_to_o MONDO:0009114 congenital sucrase-isomaltase deficiency Orphanet Orphanet:35122 one_to_one MONDO:0009114 congenital sucrase-isomaltase deficiency SCTID SCTID:78373000 one_to_one MONDO:0009114 congenital sucrase-isomaltase deficiency UMLS UMLS:C1283620 one_to_one +MONDO:0009114 congenital sucrase-isomaltase deficiency http http://identifiers.org/hgnc/10856 disease_has_basis_in_dysfunction_of MONDO:0009115 congenital lactase deficiency GARD GARD:0012311 one_to_one MONDO:0009115 congenital lactase deficiency ICD10 ICD10:E73.0 one_to_one MONDO:0009115 congenital lactase deficiency ICD9 ICD9:271.3 inexact @@ -52560,6 +53545,7 @@ MONDO:0009115 congenital lactase deficiency MONDO MONDO:0015181,MONDO:0015188,MO MONDO:0009115 congenital lactase deficiency OMIM OMIM:223000 one_to_one MONDO:0009115 congenital lactase deficiency Orphanet Orphanet:53690 one_to_one MONDO:0009115 congenital lactase deficiency SCTID SCTID:5388008 one_to_one +MONDO:0009115 congenital lactase deficiency http http://identifiers.org/hgnc/6530 disease_has_basis_in_dysfunction_of MONDO:0009116 lactose intolerance (disease) COHD COHD:4143342 one_to_one MONDO:0009116 lactose intolerance (disease) DOID DOID:10604 one_to_one MONDO:0009116 lactose intolerance (disease) EFO EFO:1000062 one_to_one @@ -52571,6 +53557,7 @@ MONDO:0009116 lactose intolerance (disease) NCIT NCIT:C3154 one_to_one MONDO:0009116 lactose intolerance (disease) OMIM OMIM:223100 one_to_one MONDO:0009116 lactose intolerance (disease) SCTID SCTID:267425008 one_to_one MONDO:0009116 lactose intolerance (disease) UMLS UMLS:C0022951 one_to_one +MONDO:0009116 lactose intolerance (disease) http http://identifiers.org/hgnc/6949 disease_has_basis_in_dysfunction_of MONDO:0009118 disseminated sclerosis with narcolepsy MESH MESH:C565621 one_to_one MONDO:0009118 disseminated sclerosis with narcolepsy MONDO MONDO:0022202 has_modifier MONDO:0009118 disseminated sclerosis with narcolepsy MONDO MONDO:0003847 subclass @@ -52608,6 +53595,7 @@ 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 MONDO:0009123 dopamine beta-hydroxylase deficiency UMLS UMLS:C0342687 one_to_one +MONDO:0009123 dopamine beta-hydroxylase deficiency http http://identifiers.org/hgnc/2689 disease_has_basis_in_dysfunction_of MONDO:0009124 Dubowitz syndrome DOID DOID:14796 one_to_one MONDO:0009124 Dubowitz syndrome GARD GARD:0006290 one_to_one MONDO:0009124 Dubowitz syndrome HP HP:0000252,HP:0000278 disease_has_feature @@ -52644,6 +53632,7 @@ MONDO:0009127 dwarfism, low-birth-weight type, with unresponsiveness to growth h MONDO:0009128 dwarfism, mental retardation, and eye abnormality MESH MESH:C535809 one_to_one MONDO:0009128 dwarfism, mental retardation, and eye abnormality MONDO MONDO:0003847 subclass MONDO:0009128 dwarfism, mental retardation, and eye abnormality OMIM OMIM:223540 one_to_one +MONDO:0009128 dwarfism, mental retardation, and eye abnormality Orphanet Orphanet:2650 one_to_one MONDO:0009128 dwarfism, mental retardation, and eye abnormality UMLS UMLS:C0796076 one_to_one MONDO:0009129 dwarfism, proportionate, with hip dislocation GARD GARD:0010606 one_to_one MONDO:0009129 dwarfism, proportionate, with hip dislocation MESH MESH:C565614 one_to_one @@ -52659,6 +53648,7 @@ MONDO:0009130 Dyggve-Melchior-Clausen disease OMIM OMIM:223800 one_to_one MONDO:0009130 Dyggve-Melchior-Clausen disease Orphanet Orphanet:239 one_to_one MONDO:0009130 Dyggve-Melchior-Clausen disease SCTID SCTID:82699004 one_to_one MONDO:0009130 Dyggve-Melchior-Clausen disease UMLS UMLS:C0265286 one_to_one +MONDO:0009130 Dyggve-Melchior-Clausen disease http http://identifiers.org/hgnc/21317 disease_has_basis_in_dysfunction_of MONDO:0009131 Riley-Day syndrome COHD COHD:4104196 one_to_one MONDO:0009131 Riley-Day syndrome DOID DOID:11589 one_to_one MONDO:0009131 Riley-Day syndrome GARD GARD:0007581 one_to_one @@ -52671,6 +53661,7 @@ MONDO:0009131 Riley-Day syndrome OMIM OMIM:223900 one_to_one MONDO:0009131 Riley-Day syndrome Orphanet Orphanet:1764 one_to_one MONDO:0009131 Riley-Day syndrome SCTID SCTID:29159009 one_to_one MONDO:0009131 Riley-Day syndrome UMLS UMLS:C0013364 one_to_one +MONDO:0009131 Riley-Day syndrome http http://identifiers.org/hgnc/5959 disease_has_basis_in_dysfunction_of MONDO:0009132 dysautonomia-like disorder GARD GARD:0009475 one_to_one MONDO:0009132 dysautonomia-like disorder MESH MESH:C535728 one_to_one MONDO:0009132 dysautonomia-like disorder MONDO MONDO:0003847 subclass @@ -52693,8 +53684,10 @@ MONDO:0009134 congenital dyserythropoietic anemia type II MONDO MONDO:0017749,MO MONDO:0009134 congenital dyserythropoietic anemia type II OMIM OMIM:224100 one_to_one MONDO:0009134 congenital dyserythropoietic anemia type II Orphanet Orphanet:98873 one_to_one MONDO:0009134 congenital dyserythropoietic anemia type II SCTID SCTID:68870007 one_to_one +MONDO:0009134 congenital dyserythropoietic anemia type II http http://identifiers.org/hgnc/10702 disease_has_basis_in_dysfunction_of MONDO:0009135 anemia, congenital dyserythropoietic, type Ia MONDO MONDO:0020337 subclass MONDO:0009135 anemia, congenital dyserythropoietic, type Ia OMIM OMIM:224120 one_to_one +MONDO:0009135 anemia, congenital dyserythropoietic, type Ia http http://identifiers.org/hgnc/1713 disease_has_basis_in_dysfunction_of MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 DOID DOID:0070015 one_to_one MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 GARD GARD:0006300 one_to_one MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 MESH MESH:C565611 one_to_one @@ -52702,6 +53695,7 @@ MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 MONDO MONDO:0015780 MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 OMIM OMIM:224230 one_to_one MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 SCTID SCTID:707272006 one_to_one MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 UMLS UMLS:C1857144 one_to_one +MONDO:0009136 dyskeratosis congenita, autosomal recessive 1 http http://identifiers.org/hgnc/14377,http://identifiers.org/hgnc/14378 disease_has_basis_in_dysfunction_of MONDO:0009137 dysmyelination with jaundice MESH MESH:C565610 one_to_one MONDO:0009137 dysmyelination with jaundice MONDO MONDO:0003847 subclass MONDO:0009137 dysmyelination with jaundice OMIM OMIM:224250 one_to_one @@ -52733,15 +53727,17 @@ MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO MONDO:000551 MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia OMIM OMIM:224410 one_to_one MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia Orphanet Orphanet:1865 one_to_one MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia SCTID SCTID:93132001 one_to_one +MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia http http://identifiers.org/hgnc/5273 disease_has_basis_in_dysfunction_of MONDO:0009141 torsion dystonia 2 DOID DOID:0090038 one_to_one MONDO:0009141 torsion dystonia 2 GARD GARD:0002028 one_to_one MONDO:0009141 torsion dystonia 2 ICD10 ICD10:G24.1 inexact MONDO:0009141 torsion dystonia 2 MESH MESH:C538006 one_to_one -MONDO:0009141 torsion dystonia 2 MONDO MONDO:0015990 subclass +MONDO:0009141 torsion dystonia 2 MONDO MONDO:0003441,MONDO:0015990 subclass MONDO:0009141 torsion dystonia 2 NCIT NCIT:C123415 one_to_one MONDO:0009141 torsion dystonia 2 OMIM OMIM:224500 one_to_one MONDO:0009141 torsion dystonia 2 Orphanet Orphanet:99657 one_to_one MONDO:0009141 torsion dystonia 2 UMLS UMLS:C1857093 one_to_one +MONDO:0009141 torsion dystonia 2 http http://identifiers.org/hgnc/5144 disease_has_basis_in_dysfunction_of MONDO:0009142 dystonia with Ringbinden MESH MESH:C565608 one_to_one MONDO:0009142 dystonia with Ringbinden MONDO MONDO:0003847 subclass MONDO:0009142 dystonia with Ringbinden OMIM OMIM:224550 one_to_one @@ -52751,6 +53747,7 @@ MONDO:0009143 Meier-Gorlin syndrome 1 MONDO MONDO:0016817 subclass MONDO:0009143 Meier-Gorlin syndrome 1 OMIM OMIM:224690 one_to_one MONDO:0009143 Meier-Gorlin syndrome 1 SCTID SCTID:703508009 one_to_one MONDO:0009143 Meier-Gorlin syndrome 1 UMLS UMLS:CN030358 one_to_one +MONDO:0009143 Meier-Gorlin syndrome 1 http http://identifiers.org/hgnc/8487 disease_has_basis_in_dysfunction_of MONDO:0009144 Ebstein anomaly COHD COHD:4069182 one_to_one MONDO:0009144 Ebstein anomaly DOID DOID:14289 one_to_one MONDO:0009144 Ebstein anomaly EFO EFO:0007244 one_to_one @@ -52772,6 +53769,7 @@ MONDO:0009145 SchC6pf-Schulz-Passarge syndrome OMIM OMIM:224750 one_to_one MONDO:0009145 SchC6pf-Schulz-Passarge syndrome Orphanet Orphanet:50944 one_to_one MONDO:0009145 SchC6pf-Schulz-Passarge syndrome SCTID SCTID:700062000 one_to_one MONDO:0009145 SchC6pf-Schulz-Passarge syndrome UMLS UMLS:C1857069 one_to_one +MONDO:0009145 SchC6pf-Schulz-Passarge syndrome http http://identifiers.org/hgnc/13829 disease_has_basis_in_dysfunction_of MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome GARD GARD:0009723 one_to_one MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome MESH MESH:C535757,MESH:C565606 inexact MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome MONDO MONDO:0019287,MONDO:0019589 subclass @@ -52781,6 +53779,7 @@ MONDO:0009146 ectodermal dysplasia-sensorineural deafness syndrome UMLS UMLS:C18 MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MONDO MONDO:0016619 subclass MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM OMIM:224900 one_to_one MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive UMLS UMLS:C3887494 one_to_one +MONDO:0009147 ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive http http://identifiers.org/hgnc/14341,http://identifiers.org/hgnc/2895 disease_has_basis_in_dysfunction_of MONDO:0009148 Rosselli-Gulienetti syndrome MESH MESH:C563117 one_to_one MONDO:0009148 Rosselli-Gulienetti syndrome MONDO MONDO:0007124 subclass MONDO:0009148 Rosselli-Gulienetti syndrome OMIM OMIM:225000 one_to_one @@ -52806,22 +53805,26 @@ MONDO:0009151 Zlotogora-Ogur syndrome NCIT NCIT:C122656 one_to_one MONDO:0009151 Zlotogora-Ogur syndrome OMIM OMIM:225060 one_to_one MONDO:0009151 Zlotogora-Ogur syndrome Orphanet Orphanet:3253 one_to_one MONDO:0009151 Zlotogora-Ogur syndrome SCTID SCTID:716248001 one_to_one +MONDO:0009151 Zlotogora-Ogur syndrome http http://identifiers.org/hgnc/9706 disease_has_basis_in_dysfunction_of MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive DOID DOID:0111149 one_to_one MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive GARD GARD:0002060 one_to_one MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive MONDO MONDO:0015998 subclass MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive OMIM OMIM:225100 one_to_one MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive UMLS UMLS:C3541474 one_to_one +MONDO:0009152 ectopia lentis 2, isolated, autosomal recessive http http://identifiers.org/hgnc/19706 disease_has_basis_in_dysfunction_of MONDO:0009153 ectopia lentis et pupillae MESH MESH:C563268 one_to_one MONDO:0009153 ectopia lentis et pupillae MONDO MONDO:0015998 subclass MONDO:0009153 ectopia lentis et pupillae OMIM OMIM:225200 one_to_one MONDO:0009153 ectopia lentis et pupillae SCTID SCTID:419237004 one_to_one MONDO:0009153 ectopia lentis et pupillae UMLS UMLS:C1644196 one_to_one +MONDO:0009153 ectopia lentis et pupillae http http://identifiers.org/hgnc/19706 disease_has_basis_in_dysfunction_of MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 DOID DOID:0070125 one_to_one MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 ICD10 ICD10:E03.1 inexact MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 MESH MESH:C567123 one_to_one MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 MONDO MONDO:0000045,MONDO:0019854,MONDO:0019855,MONDO:0019861 subclass MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 OMIM OMIM:225250 one_to_one MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 UMLS UMLS:C2673630 one_to_one +MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 http http://identifiers.org/hgnc/2488 disease_has_basis_in_dysfunction_of 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 @@ -52829,6 +53832,7 @@ MONDO:0009155 EEM syndrome MONDO MONDO:0004589,MONDO:0017432,MONDO:0018455,MONDO 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 +MONDO:0009155 EEM syndrome http http://identifiers.org/hgnc/1762 disease_has_basis_in_dysfunction_of MONDO:0009156 ectrodactyly-polydactyly syndrome ICD10 ICD10:Q74.8 inexact MONDO:0009156 ectrodactyly-polydactyly syndrome MESH MESH:C565601 one_to_one MONDO:0009156 ectrodactyly-polydactyly syndrome MONDO MONDO:0017434 subclass @@ -52839,9 +53843,9 @@ MONDO:0009157 split hand-foot malformation 6 DOID DOID:0090026 one_to_one MONDO:0009157 split hand-foot malformation 6 ICD10 ICD10:Q71.6 inexact MONDO:0009157 split hand-foot malformation 6 MESH MESH:C567616 one_to_one MONDO:0009157 split hand-foot malformation 6 MONDO MONDO:0016576 subclass -MONDO:0009157 split hand-foot malformation 6 NCBIGene NCBIGene:7480 disease_has_basis_in_dysfunction_of MONDO:0009157 split hand-foot malformation 6 OMIM OMIM:225300 one_to_one MONDO:0009157 split hand-foot malformation 6 UMLS UMLS:C2749665 one_to_one +MONDO:0009157 split hand-foot malformation 6 http http://identifiers.org/hgnc/12775 disease_has_basis_in_dysfunction_of MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type GARD GARD:0008508 one_to_one MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type ICD10 ICD10:Q79.6 inexact MONDO:0009158 Ehlers-Danlos syndrome, fibronectinemic type MESH MESH:C565600 one_to_one @@ -52856,6 +53860,7 @@ MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type MONDO MONDO:0015506, MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type OMIM OMIM:225320 one_to_one MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type Orphanet Orphanet:230851 one_to_one MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type SCTID SCTID:720858001 one_to_one +MONDO:0009159 Ehlers-Danlos syndrome, cardiac valvular type http http://identifiers.org/hgnc/2198 disease_has_basis_in_dysfunction_of MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type GARD GARD:0002089 one_to_one MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type ICD10 ICD10:Q79.6 inexact MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MESH MESH:C567527 one_to_one @@ -52863,6 +53868,7 @@ MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type MONDO MONDO:0020066 s MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type OMIM OMIM:225410 one_to_one MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type Orphanet Orphanet:1901 one_to_one MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type SCTID SCTID:55711009 one_to_one +MONDO:0009161 Ehlers-Danlos syndrome, dermatosparaxis type http http://identifiers.org/hgnc/218 disease_has_basis_in_dysfunction_of MONDO:0009162 Ellis-van Creveld syndrome DOID DOID:12714 one_to_one MONDO:0009162 Ellis-van Creveld syndrome GARD GARD:0001301 one_to_one MONDO:0009162 Ellis-van Creveld syndrome ICD10 ICD10:Q77.6 inexact @@ -52875,6 +53881,7 @@ MONDO:0009162 Ellis-van Creveld syndrome OMIM OMIM:225500 one_to_one MONDO:0009162 Ellis-van Creveld syndrome Orphanet Orphanet:289 one_to_one MONDO:0009162 Ellis-van Creveld syndrome SCTID SCTID:62501005 one_to_one MONDO:0009162 Ellis-van Creveld syndrome UMLS UMLS:C0013903,UMLS:CN239258 inexact +MONDO:0009162 Ellis-van Creveld syndrome http http://identifiers.org/hgnc/19747,http://identifiers.org/hgnc/3497 disease_has_basis_in_dysfunction_of MONDO:0009163 encephalomalacia, multilocular MESH MESH:C565597 one_to_one MONDO:0009163 encephalomalacia, multilocular MONDO MONDO:0003847 subclass MONDO:0009163 encephalomalacia, multilocular OMIM OMIM:225700 one_to_one @@ -52886,6 +53893,7 @@ MONDO:0009164 encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, MONDO:0009165 Aicardi-Goutieres syndrome 1 MONDO MONDO:0018866 subclass MONDO:0009165 Aicardi-Goutieres syndrome 1 OMIM OMIM:225750 one_to_one MONDO:0009165 Aicardi-Goutieres syndrome 1 UMLS UMLS:C0796126 one_to_one +MONDO:0009165 Aicardi-Goutieres syndrome 1 http http://identifiers.org/hgnc/12269 disease_has_basis_in_dysfunction_of MONDO:0009166 pontocerebellar hypoplasia type 4 DOID DOID:0060273 one_to_one MONDO:0009166 pontocerebellar hypoplasia type 4 GARD GARD:0000343 one_to_one MONDO:0009166 pontocerebellar hypoplasia type 4 ICD10 ICD10:Q04.3 inexact @@ -52895,6 +53903,7 @@ MONDO:0009166 pontocerebellar hypoplasia type 4 OMIM OMIM:225753 one_to_one MONDO:0009166 pontocerebellar hypoplasia type 4 Orphanet Orphanet:166063 one_to_one MONDO:0009166 pontocerebellar hypoplasia type 4 SCTID SCTID:718608006 one_to_one MONDO:0009166 pontocerebellar hypoplasia type 4 UMLS UMLS:C1856974 one_to_one +MONDO:0009166 pontocerebellar hypoplasia type 4 http http://identifiers.org/hgnc/27561 disease_has_basis_in_dysfunction_of 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 @@ -52909,6 +53918,7 @@ MONDO:0009168 fowler syndrome MedDRA MedDRA:10071718 one_to_one MONDO:0009168 fowler syndrome OMIM OMIM:225790 one_to_one MONDO:0009168 fowler syndrome Orphanet Orphanet:221126 one_to_one MONDO:0009168 fowler syndrome SCTID SCTID:700242002 one_to_one +MONDO:0009168 fowler syndrome http http://identifiers.org/hgnc/20105 disease_has_basis_in_dysfunction_of MONDO:0009169 endocardial fibroelastosis COHD COHD:314370 one_to_one MONDO:0009169 endocardial fibroelastosis DOID DOID:12929 one_to_one MONDO:0009169 endocardial fibroelastosis EFO EFO:0007251 one_to_one @@ -52948,6 +53958,7 @@ MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency OMIM OMIM MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency Orphanet Orphanet:168601 one_to_one MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency SCTID SCTID:190952002 one_to_one MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency UMLS UMLS:C0268416 one_to_one +MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency http http://identifiers.org/hgnc/9490 disease_has_basis_in_dysfunction_of MONDO:0009174 protein-losing enteropathy (disease) DOID DOID:10611 one_to_one MONDO:0009174 protein-losing enteropathy (disease) HP HP:0002243 one_to_one MONDO:0009174 protein-losing enteropathy (disease) ICD9 ICD9:579.8 inexact @@ -52956,6 +53967,7 @@ MONDO:0009174 protein-losing enteropathy (disease) MONDO MONDO:0003847,MONDO:000 MONDO:0009174 protein-losing enteropathy (disease) OMIM OMIM:226300 one_to_one MONDO:0009174 protein-losing enteropathy (disease) SCTID SCTID:22542007 one_to_one MONDO:0009174 protein-losing enteropathy (disease) UMLS UMLS:C0033680 one_to_one +MONDO:0009174 protein-losing enteropathy (disease) http http://identifiers.org/hgnc/2665 disease_has_basis_in_dysfunction_of MONDO:0009175 eosinophilic fasciitis (disease) GARD GARD:0006351 one_to_one MONDO:0009175 eosinophilic fasciitis (disease) HP HP:0045029 one_to_one MONDO:0009175 eosinophilic fasciitis (disease) ICD10 ICD10:M35.4 one_to_one @@ -52980,6 +53992,7 @@ MONDO:0009176 epidermodysplasia verruciformis OMIM OMIM:226400 one_to_one MONDO:0009176 epidermodysplasia verruciformis Orphanet Orphanet:302 one_to_one MONDO:0009176 epidermodysplasia verruciformis SCTID SCTID:19138001 one_to_one MONDO:0009176 epidermodysplasia verruciformis UMLS UMLS:C0014522 one_to_one +MONDO:0009176 epidermodysplasia verruciformis http http://identifiers.org/hgnc/18021,http://identifiers.org/hgnc/20474 disease_has_basis_in_dysfunction_of MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome GARD GARD:0000299 one_to_one MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome ICD10 ICD10:Q81.8 inexact MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MESH MESH:C535492 one_to_one @@ -53000,6 +54013,7 @@ MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO MONDO:0006543,MON 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 +MONDO:0009179 recessive dystrophic epidermolysis bullosa http http://identifiers.org/hgnc/2214,http://identifiers.org/hgnc/7155 disease_has_basis_in_dysfunction_of MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type GARD GARD:0002151 one_to_one MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type ICD10 ICD10:Q81.8 inexact MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type ICD9 ICD9:757.39 inexact @@ -53007,6 +54021,7 @@ MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type MONDO MONDO:001 MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type OMIM OMIM:226650 one_to_one MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type Orphanet Orphanet:89840 one_to_one MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type SCTID SCTID:33662006 one_to_one +MONDO:0009180 junctional epidermolysis bullosa, non-Herlitz type http http://identifiers.org/hgnc/2194,http://identifiers.org/hgnc/6158,http://identifiers.org/hgnc/6483,http://identifiers.org/hgnc/6490,http://identifiers.org/hgnc/6493 disease_has_basis_in_dysfunction_of MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy DOID DOID:0090017 one_to_one MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy GARD GARD:0002137 one_to_one MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy ICD10 ICD10:Q81.0 inexact @@ -53015,6 +54030,7 @@ MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy MONDO MONDO: MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy OMIM OMIM:226670 one_to_one MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy Orphanet Orphanet:257 one_to_one MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy UMLS UMLS:C2931072 one_to_one +MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy http http://identifiers.org/hgnc/9069 disease_has_basis_in_dysfunction_of 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 @@ -53022,6 +54038,7 @@ MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO MONDO:0016997, 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 +MONDO:0009182 junctional epidermolysis bullosa Herlitz type http http://identifiers.org/hgnc/6483,http://identifiers.org/hgnc/6490,http://identifiers.org/hgnc/6493 disease_has_basis_in_dysfunction_of MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia DOID DOID:0060733 one_to_one MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia GARD GARD:0009694 one_to_one MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia ICD10 ICD10:Q81.8 inexact @@ -53030,6 +54047,7 @@ MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia MONDO MONDO: MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia OMIM OMIM:226730 one_to_one MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia Orphanet Orphanet:79403 one_to_one MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia UMLS UMLS:C1856934 one_to_one +MONDO:0009183 junctional epidermolysis bullosa with pyloric atresia http http://identifiers.org/hgnc/6142,http://identifiers.org/hgnc/6158,http://identifiers.org/hgnc/9069 disease_has_basis_in_dysfunction_of MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia MESH MESH:C565588 one_to_one MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia MONDO MONDO:0003847 subclass MONDO:0009184 epidermolysis bullosa with diaphragmatic hernia OMIM OMIM:226735 one_to_one @@ -53041,6 +54059,7 @@ MONDO:0009185 amelocerebrohypohidrotic syndrome OMIM OMIM:226750 one_to_one MONDO:0009185 amelocerebrohypohidrotic syndrome Orphanet Orphanet:1946 one_to_one MONDO:0009185 amelocerebrohypohidrotic syndrome SCTID SCTID:109478007 one_to_one MONDO:0009185 amelocerebrohypohidrotic syndrome UMLS UMLS:C0406740 one_to_one +MONDO:0009185 amelocerebrohypohidrotic syndrome http http://identifiers.org/hgnc/29478 disease_has_basis_in_dysfunction_of MONDO:0009186 epilepsy, photogenic, with spastic diplegia and mental retardation MESH MESH:C565587 one_to_one MONDO:0009186 epilepsy, photogenic, with spastic diplegia and mental retardation MONDO MONDO:0003847 subclass MONDO:0009186 epilepsy, photogenic, with spastic diplegia and mental retardation OMIM OMIM:226800 one_to_one @@ -53066,6 +54085,7 @@ MONDO:0009189 multiple epiphyseal dysplasia type 4 OMIM OMIM:226900 one_to_one MONDO:0009189 multiple epiphyseal dysplasia type 4 Orphanet Orphanet:93307 one_to_one MONDO:0009189 multiple epiphyseal dysplasia type 4 SCTID SCTID:715672007 one_to_one MONDO:0009189 multiple epiphyseal dysplasia type 4 UMLS UMLS:C1847593 one_to_one +MONDO:0009189 multiple epiphyseal dysplasia type 4 http http://identifiers.org/hgnc/10994 disease_has_basis_in_dysfunction_of MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness MESH MESH:C565585 one_to_one MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness MONDO MONDO:0003847 subclass MONDO:0009190 epiphyseal dysplasia of femoral head, myopia, and deafness OMIM OMIM:226950 one_to_one @@ -53089,6 +54109,7 @@ MONDO:0009192 Wolcott-Rallison syndrome OMIM OMIM:226980 one_to_one MONDO:0009192 Wolcott-Rallison syndrome Orphanet Orphanet:1667 one_to_one MONDO:0009192 Wolcott-Rallison syndrome SCTID SCTID:254066006 one_to_one MONDO:0009192 Wolcott-Rallison syndrome UMLS UMLS:C0432217 one_to_one +MONDO:0009192 Wolcott-Rallison syndrome http http://identifiers.org/hgnc/3255 disease_has_basis_in_dysfunction_of MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract MESH MESH:C565584 one_to_one MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract MONDO MONDO:0003847 subclass MONDO:0009193 epithelial squamous dysplasia, keratinizing desquamative, of urinary tract OMIM OMIM:226985 one_to_one @@ -53156,6 +54177,7 @@ MONDO:0009203 focal facial dermal dysplasia type III MONDO MONDO:0018363 subclas MONDO:0009203 focal facial dermal dysplasia type III OMIM OMIM:227260 one_to_one MONDO:0009203 focal facial dermal dysplasia type III Orphanet Orphanet:1807 one_to_one MONDO:0009203 focal facial dermal dysplasia type III SCTID SCTID:403771007 one_to_one +MONDO:0009203 focal facial dermal dysplasia type III http http://identifiers.org/hgnc/20670 disease_has_basis_in_dysfunction_of MONDO:0009204 lethal faciocardiomelic dysplasia GARD GARD:0002229 one_to_one MONDO:0009204 lethal faciocardiomelic dysplasia ICD10 ICD10:Q87.8 inexact MONDO:0009204 lethal faciocardiomelic dysplasia MESH MESH:C565578 one_to_one @@ -53171,11 +54193,12 @@ MONDO:0009205 faciocardiorenal syndrome MONDO MONDO:0015159,MONDO:0019721 subcla MONDO:0009205 faciocardiorenal syndrome OMIM OMIM:227280 one_to_one MONDO:0009205 faciocardiorenal syndrome Orphanet Orphanet:1973 one_to_one MONDO:0009205 faciocardiorenal syndrome UMLS UMLS:C0795936 one_to_one -MONDO:0009206 factor v and Factor VIII, combined deficiency of, type 1 MONDO MONDO:0018175 subclass -MONDO:0009206 factor v and Factor VIII, combined deficiency of, type 1 OMIM OMIM:227300 one_to_one -MONDO:0009207 factor v and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor MONDO MONDO:0018175 subclass -MONDO:0009207 factor v and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor OMIM OMIM:227310 one_to_one -MONDO:0009207 factor v and Factor VIII, combined deficiency of, with normal protein c and Protein C inhibitor UMLS UMLS:C1856882 one_to_one +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 MONDO MONDO:0018175 subclass +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 OMIM OMIM:227300 one_to_one +MONDO:0009206 factor V and factor VIII, combined deficiency of, type 1 http http://identifiers.org/hgnc/6631 disease_has_basis_in_dysfunction_of +MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor MONDO MONDO:0018175 subclass +MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor OMIM OMIM:227310 one_to_one +MONDO:0009207 factor V and factor VIII, combined deficiency of, with normal protein C and protein C inhibitor UMLS UMLS:C1856882 one_to_one MONDO:0009208 Faciothoracogenital syndrome GARD GARD:0002228 one_to_one MONDO:0009208 Faciothoracogenital syndrome MESH MESH:C536387 one_to_one MONDO:0009208 Faciothoracogenital syndrome MONDO MONDO:0003847 subclass @@ -53196,6 +54219,7 @@ MONDO:0009210 congenital factor V deficiency NCIT NCIT:C98938 one_to_one MONDO:0009210 congenital factor V deficiency OMIM OMIM:227400 one_to_one MONDO:0009210 congenital factor V deficiency Orphanet Orphanet:326 one_to_one MONDO:0009210 congenital factor V deficiency UMLS UMLS:C0015499 one_to_one +MONDO:0009210 congenital factor V deficiency http http://identifiers.org/hgnc/3542 disease_has_basis_in_dysfunction_of MONDO:0009211 congenital factor VII deficiency DOID DOID:2215 one_to_one MONDO:0009211 congenital factor VII deficiency GARD GARD:0002238 one_to_one MONDO:0009211 congenital factor VII deficiency HP HP:0008169 disease_arises_from_feature @@ -53206,6 +54230,7 @@ MONDO:0009211 congenital factor VII deficiency NCIT NCIT:C131631 one_to_one MONDO:0009211 congenital factor VII deficiency OMIM OMIM:227500 one_to_one MONDO:0009211 congenital factor VII deficiency Orphanet Orphanet:327 one_to_one MONDO:0009211 congenital factor VII deficiency UMLS UMLS:C0015503 one_to_one +MONDO:0009211 congenital factor VII deficiency http http://identifiers.org/hgnc/3544 disease_has_basis_in_dysfunction_of MONDO:0009212 congenital factor X deficiency DOID DOID:2222 one_to_one MONDO:0009212 congenital factor X deficiency GARD GARD:0006404 one_to_one MONDO:0009212 congenital factor X deficiency HP HP:0008321 disease_arises_from_feature @@ -53216,29 +54241,34 @@ MONDO:0009212 congenital factor X deficiency NCIT NCIT:C98940 one_to_one MONDO:0009212 congenital factor X deficiency OMIM OMIM:227600 one_to_one MONDO:0009212 congenital factor X deficiency Orphanet Orphanet:328 one_to_one MONDO:0009212 congenital factor X deficiency SCTID SCTID:76642003 one_to_one +MONDO:0009212 congenital factor X deficiency http http://identifiers.org/hgnc/3528 disease_has_basis_in_dysfunction_of MONDO:0009213 Fanconi anemia complementation group C DOID DOID:0111087 one_to_one MONDO:0009213 Fanconi anemia complementation group C MONDO MONDO:0019391 subclass MONDO:0009213 Fanconi anemia complementation group C NCIT NCIT:C125704 one_to_one MONDO:0009213 Fanconi anemia complementation group C OMIM OMIM:227645 one_to_one MONDO:0009213 Fanconi anemia complementation group C UMLS UMLS:C3468041 one_to_one +MONDO:0009213 Fanconi anemia complementation group C http http://identifiers.org/hgnc/3584 disease_has_basis_in_dysfunction_of MONDO:0009214 Fanconi anemia complementation group D2 DOID DOID:0111083 one_to_one MONDO:0009214 Fanconi anemia complementation group D2 MONDO MONDO:0019391 subclass MONDO:0009214 Fanconi anemia complementation group D2 NCIT NCIT:C125706 one_to_one MONDO:0009214 Fanconi anemia complementation group D2 OMIM OMIM:227646 one_to_one MONDO:0009214 Fanconi anemia complementation group D2 UMLS UMLS:C3160738 one_to_one +MONDO:0009214 Fanconi anemia complementation group D2 http http://identifiers.org/hgnc/3585 disease_has_basis_in_dysfunction_of MONDO:0009215 Fanconi anemia complementation group A DOID DOID:0111095 one_to_one +MONDO:0009215 Fanconi anemia complementation group A EFO EFO:0009044 one_to_one MONDO:0009215 Fanconi anemia complementation group A GTR GTR:AN1051558 one_to_one MONDO:0009215 Fanconi anemia complementation group A MONDO MONDO:0019391 subclass -MONDO:0009215 Fanconi anemia complementation group A NCBIGene NCBIGene:2175 disease_has_basis_in_dysfunction_of MONDO:0009215 Fanconi anemia complementation group A NCIT NCIT:C125702 one_to_one MONDO:0009215 Fanconi anemia complementation group A OMIM OMIM:227650 one_to_one MONDO:0009215 Fanconi anemia complementation group A UMLS UMLS:CN653908 one_to_one +MONDO:0009215 Fanconi anemia complementation group A http http://identifiers.org/hgnc/3582 disease_has_basis_in_dysfunction_of MONDO:0009216 glycogen storage disease due to GLUT2 deficiency GARD GARD:0002268 one_to_one MONDO:0009216 glycogen storage disease due to GLUT2 deficiency ICD10 ICD10:E74.0 inexact MONDO:0009216 glycogen storage disease due to GLUT2 deficiency MONDO MONDO:0002412,MONDO:0015115,MONDO:0019226,MONDO:0019743 subclass MONDO:0009216 glycogen storage disease due to GLUT2 deficiency OMIM OMIM:227810 one_to_one MONDO:0009216 glycogen storage disease due to GLUT2 deficiency Orphanet Orphanet:2088 one_to_one MONDO:0009216 glycogen storage disease due to GLUT2 deficiency SCTID SCTID:61598006 one_to_one +MONDO:0009216 glycogen storage disease due to GLUT2 deficiency http http://identifiers.org/hgnc/11006 disease_has_basis_in_dysfunction_of MONDO:0009217 Fanconi-like syndrome DOID DOID:0090066 one_to_one MONDO:0009217 Fanconi-like syndrome MESH MESH:C536855 one_to_one MONDO:0009217 Fanconi-like syndrome MONDO MONDO:0002254,MONDO:0003847 subclass @@ -53250,12 +54280,13 @@ 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:0015123,MONDO:0015949,MONDO:0015955,MONDO:0018299,MONDO:0019058,MONDO:0019255,MONDO:0019296,MONDO:0020244 subclass +MONDO:0009218 Farber lipogranulomatosis MONDO MONDO:0004589,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 MONDO:0009218 Farber lipogranulomatosis SCTID SCTID:79935000 one_to_one MONDO:0009218 Farber lipogranulomatosis UMLS UMLS:C0268255,UMLS:CN204335 inexact +MONDO:0009218 Farber lipogranulomatosis http http://identifiers.org/hgnc/735 disease_has_basis_in_dysfunction_of MONDO:0009219 fascial dystrophy, congenital ICD9 ICD9:709.8 inexact MONDO:0009219 fascial dystrophy, congenital MESH MESH:C563219 one_to_one MONDO:0009219 fascial dystrophy, congenital MONDO MONDO:0008492 subclass @@ -53289,11 +54320,11 @@ MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia ICD10 ICD MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia ICD9 ICD9:253.4 inexact MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MESH MESH:C537919 one_to_one MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia MONDO MONDO:0018555,MONDO:0019155 subclass -MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia NCBIGene NCBIGene:3972 disease_has_basis_in_dysfunction_of MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia OMIM OMIM:228300 one_to_one MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia Orphanet Orphanet:325448 one_to_one MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia SCTID SCTID:8829008 one_to_one MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia UMLS UMLS:C0271582 one_to_one +MONDO:0009223 hypogonadotropic hypogonadism 23 with or without anosmia http http://identifiers.org/hgnc/6584 disease_has_basis_in_dysfunction_of MONDO:0009224 fetal iodine syndrome GARD GARD:0002304 one_to_one MONDO:0009224 fetal iodine syndrome ICD10 ICD10:P72.2 inexact MONDO:0009224 fetal iodine syndrome MONDO MONDO:0015323,MONDO:0016555,MONDO:0016677 subclass @@ -53308,11 +54339,13 @@ MONDO:0009225 fever, familial lifelong persistent UMLS UMLS:C1856788 one_to_one MONDO:0009226 fibrochondrogenesis 1 MONDO MONDO:0016068 subclass MONDO:0009226 fibrochondrogenesis 1 OMIM OMIM:228520 one_to_one MONDO:0009226 fibrochondrogenesis 1 UMLS UMLS:C3278138 one_to_one +MONDO:0009226 fibrochondrogenesis 1 http http://identifiers.org/hgnc/2186 disease_has_basis_in_dysfunction_of MONDO:0009227 myofibromatosis, infantile, 1 ICD9 ICD9:756.9 inexact MONDO:0009227 myofibromatosis, infantile, 1 MESH MESH:C562978 one_to_one MONDO:0009227 myofibromatosis, infantile, 1 MONDO MONDO:0016824 subclass MONDO:0009227 myofibromatosis, infantile, 1 OMIM OMIM:228550 one_to_one MONDO:0009227 myofibromatosis, infantile, 1 SCTID SCTID:254146000 one_to_one +MONDO:0009227 myofibromatosis, infantile, 1 http http://identifiers.org/hgnc/8804 disease_has_basis_in_dysfunction_of MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome GARD GARD:0010528 one_to_one MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome ICD10 ICD10:Q87.0 inexact MONDO:0009228 gingival fibromatosis-facial dysmorphism syndrome MESH MESH:C565567 one_to_one @@ -53325,6 +54358,7 @@ MONDO:0009229 hyaline fibromatosis syndrome MONDO MONDO:0015958,MONDO:0015960,MO MONDO:0009229 hyaline fibromatosis syndrome OMIM OMIM:228600 one_to_one MONDO:0009229 hyaline fibromatosis syndrome Orphanet Orphanet:498474 one_to_one MONDO:0009229 hyaline fibromatosis syndrome UMLS UMLS:C2745948 one_to_one +MONDO:0009229 hyaline fibromatosis syndrome http http://identifiers.org/hgnc/21732 disease_has_basis_in_dysfunction_of MONDO:0009230 fibrosclerosis, multifocal GARD GARD:0005697 one_to_one MONDO:0009230 fibrosclerosis, multifocal ICD10 ICD10:M35.5 one_to_one MONDO:0009230 fibrosclerosis, multifocal ICD9 ICD9:710.8 inexact @@ -53342,6 +54376,7 @@ MONDO:0009231 fibular hypoplasia and complex brachydactyly OMIM OMIM:228900 one_ MONDO:0009231 fibular hypoplasia and complex brachydactyly Orphanet Orphanet:2639 one_to_one MONDO:0009231 fibular hypoplasia and complex brachydactyly SCTID SCTID:715474004 one_to_one MONDO:0009231 fibular hypoplasia and complex brachydactyly UMLS UMLS:C1856738 one_to_one +MONDO:0009231 fibular hypoplasia and complex brachydactyly http http://identifiers.org/hgnc/4220 disease_has_basis_in_dysfunction_of MONDO:0009232 Fuhrmann syndrome DOID DOID:0090067 one_to_one MONDO:0009232 Fuhrmann syndrome GARD GARD:0002410 one_to_one MONDO:0009232 Fuhrmann syndrome ICD10 ICD10:Q74.8 inexact @@ -53351,6 +54386,7 @@ MONDO:0009232 Fuhrmann syndrome OMIM OMIM:228930 one_to_one MONDO:0009232 Fuhrmann syndrome Orphanet Orphanet:2854 one_to_one MONDO:0009232 Fuhrmann syndrome SCTID SCTID:721296004 one_to_one MONDO:0009232 Fuhrmann syndrome UMLS UMLS:C1856728 one_to_one +MONDO:0009232 Fuhrmann syndrome http http://identifiers.org/hgnc/12786 disease_has_basis_in_dysfunction_of MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome GARD GARD:0000320 one_to_one MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome MESH MESH:C537226 one_to_one @@ -53368,12 +54404,14 @@ MONDO:0009234 congenital high-molecular-weight kininogen deficiency NCIT NCIT:C9 MONDO:0009234 congenital high-molecular-weight kininogen deficiency OMIM OMIM:228960 one_to_one MONDO:0009234 congenital high-molecular-weight kininogen deficiency Orphanet Orphanet:483 one_to_one MONDO:0009234 congenital high-molecular-weight kininogen deficiency SCTID SCTID:27312002 one_to_one +MONDO:0009234 congenital high-molecular-weight kininogen deficiency http http://identifiers.org/hgnc/6383 disease_has_basis_in_dysfunction_of MONDO:0009235 familial benign flecked retina ICD10 ICD10:H35.5 inexact MONDO:0009235 familial benign flecked retina MESH MESH:C565564 one_to_one MONDO:0009235 familial benign flecked retina MONDO MONDO:0019118 subclass MONDO:0009235 familial benign flecked retina OMIM OMIM:228980 one_to_one MONDO:0009235 familial benign flecked retina Orphanet Orphanet:363989 one_to_one MONDO:0009235 familial benign flecked retina UMLS UMLS:C1856718 one_to_one +MONDO:0009235 familial benign flecked retina http http://identifiers.org/hgnc/9038 disease_has_basis_in_dysfunction_of MONDO:0009236 Kandori fleck retina ICD10 ICD10:H35.5 inexact MONDO:0009236 Kandori fleck retina MESH MESH:C562701 one_to_one MONDO:0009236 Kandori fleck retina MONDO MONDO:0016420 subclass @@ -53397,15 +54435,16 @@ MONDO:0009238 hereditary folate malabsorption MONDO MONDO:0005528,MONDO:0015179, MONDO:0009238 hereditary folate malabsorption OMIM OMIM:229050 one_to_one MONDO:0009238 hereditary folate malabsorption Orphanet Orphanet:90045 one_to_one MONDO:0009238 hereditary folate malabsorption UMLS UMLS:C0342705 one_to_one +MONDO:0009238 hereditary folate malabsorption http http://identifiers.org/hgnc/30521 disease_has_basis_in_dysfunction_of MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia DOID DOID:0090088 one_to_one MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia GARD GARD:0010128 one_to_one MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia ICD10 ICD10:E23.6 inexact MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MESH MESH:C537070 one_to_one MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia MONDO MONDO:0018555 subclass -MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia NCBIGene NCBIGene:2488 disease_has_basis_in_dysfunction_of MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia OMIM OMIM:229070 one_to_one MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia Orphanet Orphanet:52901 one_to_one MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia UMLS UMLS:C1856716 one_to_one +MONDO:0009239 hypogonadotropic hypogonadism 24 without anosmia http http://identifiers.org/hgnc/3964 disease_has_basis_in_dysfunction_of MONDO:0009240 formiminoglutamic aciduria GARD GARD:0009279 one_to_one MONDO:0009240 formiminoglutamic aciduria ICD10 ICD10:E70.8 inexact MONDO:0009240 formiminoglutamic aciduria ICD9 ICD9:270.8 inexact @@ -53415,6 +54454,7 @@ MONDO:0009240 formiminoglutamic aciduria OMIM OMIM:229100 one_to_one MONDO:0009240 formiminoglutamic aciduria Orphanet Orphanet:51208 one_to_one MONDO:0009240 formiminoglutamic aciduria SCTID SCTID:59761008 one_to_one MONDO:0009240 formiminoglutamic aciduria UMLS UMLS:C0268609 one_to_one +MONDO:0009240 formiminoglutamic aciduria http http://identifiers.org/hgnc/3974 disease_has_basis_in_dysfunction_of MONDO:0009241 fountain syndrome GARD GARD:0000064 one_to_one MONDO:0009241 fountain syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009241 fountain syndrome MESH MESH:C537270 one_to_one @@ -53450,18 +54490,19 @@ MONDO:0009245 Friedreich ataxia OMIM OMIM:229300 one_to_one MONDO:0009245 Friedreich ataxia Orphanet Orphanet:95 one_to_one MONDO:0009245 Friedreich ataxia SCTID SCTID:10394003 one_to_one MONDO:0009245 Friedreich ataxia UMLS UMLS:C0016719 one_to_one +MONDO:0009245 Friedreich ataxia http http://identifiers.org/hgnc/3951 disease_has_basis_in_dysfunction_of MONDO:0009246 Friedreich ataxia and congenital glaucoma MESH MESH:C538061 one_to_one MONDO:0009246 Friedreich ataxia and congenital glaucoma MONDO MONDO:0003847 subclass MONDO:0009246 Friedreich ataxia and congenital glaucoma OMIM OMIM:229310 one_to_one MONDO:0009246 Friedreich ataxia and congenital glaucoma UMLS UMLS:C1856688 one_to_one -MONDO:0009247 Frontofacionasal dysplasia GARD GARD:0002390 one_to_one -MONDO:0009247 Frontofacionasal dysplasia ICD10 ICD10:Q75.8 inexact -MONDO:0009247 Frontofacionasal dysplasia MESH MESH:C538063 one_to_one -MONDO:0009247 Frontofacionasal dysplasia MONDO MONDO:0015218,MONDO:0015334,MONDO:0015412,MONDO:0016643,MONDO:0020156,MONDO:0020157,MONDO:0043008 subclass -MONDO:0009247 Frontofacionasal dysplasia OMIM OMIM:229400 one_to_one -MONDO:0009247 Frontofacionasal dysplasia Orphanet Orphanet:1791 one_to_one -MONDO:0009247 Frontofacionasal dysplasia SCTID SCTID:716022002 one_to_one -MONDO:0009247 Frontofacionasal dysplasia UMLS UMLS:C2931720 one_to_one +MONDO:0009247 frontofacionasal dysplasia GARD GARD:0002390 one_to_one +MONDO:0009247 frontofacionasal dysplasia ICD10 ICD10:Q75.8 inexact +MONDO:0009247 frontofacionasal dysplasia MESH MESH:C538063 one_to_one +MONDO:0009247 frontofacionasal dysplasia MONDO MONDO:0015218,MONDO:0015334,MONDO:0015412,MONDO:0016643,MONDO:0020156,MONDO:0020157,MONDO:0043008 subclass +MONDO:0009247 frontofacionasal dysplasia OMIM OMIM:229400 one_to_one +MONDO:0009247 frontofacionasal dysplasia Orphanet Orphanet:1791 one_to_one +MONDO:0009247 frontofacionasal dysplasia SCTID SCTID:716022002 one_to_one +MONDO:0009247 frontofacionasal dysplasia UMLS UMLS:C2931720 one_to_one MONDO:0009248 fructose and galactose intolerance MESH MESH:C565558 one_to_one MONDO:0009248 fructose and galactose intolerance MONDO MONDO:0003847 subclass MONDO:0009248 fructose and galactose intolerance OMIM OMIM:229500 one_to_one @@ -53477,6 +54518,7 @@ MONDO:0009249 hereditary fructose intolerance OMIM OMIM:229600 one_to_one MONDO:0009249 hereditary fructose intolerance Orphanet Orphanet:469 one_to_one MONDO:0009249 hereditary fructose intolerance SCTID SCTID:20052008 one_to_one MONDO:0009249 hereditary fructose intolerance UMLS UMLS:C0016751 one_to_one +MONDO:0009249 hereditary fructose intolerance http http://identifiers.org/hgnc/417 disease_has_basis_in_dysfunction_of MONDO:0009250 fructose utilization MONDO MONDO:0003847 subclass MONDO:0009250 fructose utilization OMIM OMIM:229650 one_to_one MONDO:0009251 fructose-1,6-bisphosphatase deficiency DOID DOID:5204 one_to_one @@ -53489,6 +54531,7 @@ MONDO:0009251 fructose-1,6-bisphosphatase deficiency OMIM OMIM:229700 one_to_one MONDO:0009251 fructose-1,6-bisphosphatase deficiency Orphanet Orphanet:348 one_to_one MONDO:0009251 fructose-1,6-bisphosphatase deficiency SCTID SCTID:28183005 one_to_one MONDO:0009251 fructose-1,6-bisphosphatase deficiency UMLS UMLS:C0016756 one_to_one +MONDO:0009251 fructose-1,6-bisphosphatase deficiency http http://identifiers.org/hgnc/3606 disease_has_basis_in_dysfunction_of MONDO:0009252 essential fructosuria ICD10 ICD10:E74.1,ICD10:E74.11 inexact MONDO:0009252 essential fructosuria MESH MESH:C538068 one_to_one MONDO:0009252 essential fructosuria MONDO MONDO:0017689 subclass @@ -53497,6 +54540,7 @@ MONDO:0009252 essential fructosuria OMIM OMIM:229800 one_to_one MONDO:0009252 essential fructosuria Orphanet Orphanet:2056 one_to_one MONDO:0009252 essential fructosuria SCTID SCTID:40278002 one_to_one MONDO:0009252 essential fructosuria UMLS UMLS:C0268160 one_to_one +MONDO:0009252 essential fructosuria http http://identifiers.org/hgnc/6315 disease_has_basis_in_dysfunction_of 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 @@ -53512,12 +54556,13 @@ MONDO:0009254 fucosidosis GARD GARD:0006473 one_to_one MONDO:0009254 fucosidosis ICD10 ICD10:E77.1 inexact MONDO:0009254 fucosidosis ICD9 ICD9:271.8 inexact MONDO:0009254 fucosidosis MESH MESH:D005645 one_to_one -MONDO:0009254 fucosidosis MONDO MONDO:0015960,MONDO:0016326,MONDO:0019251,MONDO:0019706,MONDO:0024573 subclass +MONDO:0009254 fucosidosis MONDO MONDO:0015960,MONDO:0016326,MONDO:0019251,MONDO:0019706 subclass MONDO:0009254 fucosidosis NCIT NCIT:C61274 one_to_one MONDO:0009254 fucosidosis OMIM OMIM:230000 one_to_one MONDO:0009254 fucosidosis Orphanet Orphanet:349 one_to_one MONDO:0009254 fucosidosis SCTID SCTID:64716005 one_to_one MONDO:0009254 fucosidosis UMLS UMLS:C0016788 one_to_one +MONDO:0009254 fucosidosis http http://identifiers.org/hgnc/4006 disease_has_basis_in_dysfunction_of MONDO:0009255 galactokinase deficiency DOID DOID:14695 one_to_one MONDO:0009255 galactokinase deficiency GARD GARD:0002422 one_to_one MONDO:0009255 galactokinase deficiency ICD10 ICD10:E74.2,ICD10:E74.29 inexact @@ -53527,6 +54572,7 @@ MONDO:0009255 galactokinase deficiency OMIM OMIM:230200 one_to_one MONDO:0009255 galactokinase deficiency Orphanet Orphanet:79237 one_to_one MONDO:0009255 galactokinase deficiency SCTID SCTID:124302001 one_to_one MONDO:0009255 galactokinase deficiency UMLS UMLS:C0268155 one_to_one +MONDO:0009255 galactokinase deficiency http http://identifiers.org/hgnc/4118 disease_has_basis_in_dysfunction_of MONDO:0009256 galactorrhea (disease) HP HP:0100829 one_to_one MONDO:0009256 galactorrhea (disease) ICD9 ICD9:611.6 one_to_one MONDO:0009256 galactorrhea (disease) MESH MESH:D005687 one_to_one @@ -53539,11 +54585,13 @@ MONDO:0009257 galactose epimerase deficiency MONDO MONDO:0015115,MONDO:0018116 s MONDO:0009257 galactose epimerase deficiency OMIM OMIM:230350 one_to_one MONDO:0009257 galactose epimerase deficiency Orphanet Orphanet:79238 one_to_one MONDO:0009257 galactose epimerase deficiency SCTID SCTID:8849004 one_to_one +MONDO:0009257 galactose epimerase deficiency http http://identifiers.org/hgnc/4116 disease_has_basis_in_dysfunction_of MONDO:0009258 classic galactosemia ICD10 ICD10:E74.2 inexact MONDO:0009258 classic galactosemia MONDO MONDO:0015115,MONDO:0018116,MONDO:0018413,MONDO:0019852 subclass MONDO:0009258 classic galactosemia OMIM OMIM:230400 one_to_one MONDO:0009258 classic galactosemia Orphanet Orphanet:79239 one_to_one MONDO:0009258 classic galactosemia SCTID SCTID:10899004 one_to_one +MONDO:0009258 classic galactosemia http http://identifiers.org/hgnc/4135 disease_has_basis_in_dysfunction_of MONDO:0009259 gamma-glutamylcysteine synthetase deficiency GO GO:0004357 disease_has_basis_in_disruption_of MONDO:0009259 gamma-glutamylcysteine synthetase deficiency ICD10 ICD10:D55.1 inexact MONDO:0009259 gamma-glutamylcysteine synthetase deficiency ICD9 ICD9:270.8 inexact @@ -53552,6 +54600,7 @@ MONDO:0009259 gamma-glutamylcysteine synthetase deficiency MONDO MONDO:0003689,M MONDO:0009259 gamma-glutamylcysteine synthetase deficiency OMIM OMIM:230450 one_to_one MONDO:0009259 gamma-glutamylcysteine synthetase deficiency Orphanet Orphanet:33574 one_to_one MONDO:0009259 gamma-glutamylcysteine synthetase deficiency SCTID SCTID:36799008 one_to_one +MONDO:0009259 gamma-glutamylcysteine synthetase deficiency http http://identifiers.org/hgnc/4311 disease_has_basis_in_dysfunction_of MONDO:0009260 GM1 gangliosidosis type 1 GARD GARD:0006479 one_to_one MONDO:0009260 GM1 gangliosidosis type 1 ICD10 ICD10:E75.1 inexact MONDO:0009260 GM1 gangliosidosis type 1 MONDO MONDO:0015905,MONDO:0018149 subclass @@ -53576,6 +54625,7 @@ MONDO:0009263 gapo syndrome MONDO MONDO:0015159,MONDO:0015336,MONDO:0015983,MOND 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 +MONDO:0009263 gapo syndrome http http://identifiers.org/hgnc/21014 disease_has_basis_in_dysfunction_of MONDO:0009264 gastroschisis COHD COHD:4218764 one_to_one MONDO:0009264 gastroschisis DOID DOID:11044 one_to_one MONDO:0009264 gastroschisis EFO EFO:1000949 one_to_one @@ -53596,29 +54646,36 @@ MONDO:0009265 Gaucher disease type I ICD10 ICD10:E75.2 inexact MONDO:0009265 Gaucher disease type I MONDO MONDO:0015510,MONDO:0016341,MONDO:0017037,MONDO:0018150,MONDO:0018377,MONDO:0020143 subclass MONDO:0009265 Gaucher disease type I OMIM OMIM:230800 one_to_one MONDO:0009265 Gaucher disease type I Orphanet Orphanet:77259 one_to_one +MONDO:0009265 Gaucher disease type I http http://identifiers.org/hgnc/4177 disease_has_basis_in_dysfunction_of MONDO:0009266 Gaucher disease type II DOID DOID:0110958 one_to_one MONDO:0009266 Gaucher disease type II GARD GARD:0002442 one_to_one +MONDO:0009266 Gaucher disease type II GO GO:0004565 disease_has_basis_in_disruption_of MONDO:0009266 Gaucher disease type II ICD10 ICD10:E75.2 inexact -MONDO:0009266 Gaucher disease type II MONDO MONDO:0015510,MONDO:0015955,MONDO:0017024,MONDO:0018150,MONDO:0018299,MONDO:0019058,MONDO:0020143 subclass +MONDO:0009266 Gaucher disease type II MONDO MONDO:0015510,MONDO:0017024,MONDO:0018150,MONDO:0018299,MONDO:0019058,MONDO:0020143,MONDO:0044976 subclass MONDO:0009266 Gaucher disease type II OMIM OMIM:230900 one_to_one MONDO:0009266 Gaucher disease type II Orphanet Orphanet:77260 one_to_one MONDO:0009266 Gaucher disease type II SCTID SCTID:12246008 one_to_one +MONDO:0009266 Gaucher disease type II http http://identifiers.org/hgnc/4177 disease_has_basis_in_dysfunction_of MONDO:0009267 Gaucher disease type III DOID DOID:0110959 one_to_one MONDO:0009267 Gaucher disease type III GARD GARD:0002443 one_to_one +MONDO:0009267 Gaucher disease type III GO GO:0004565 disease_has_basis_in_disruption_of MONDO:0009267 Gaucher disease type III ICD10 ICD10:E75.2 inexact -MONDO:0009267 Gaucher disease type III MONDO MONDO:0015510,MONDO:0015955,MONDO:0016341,MONDO:0017024,MONDO:0018150,MONDO:0018299,MONDO:0018377,MONDO:0019058,MONDO:0020143 subclass +MONDO:0009267 Gaucher disease type III MONDO MONDO:0015510,MONDO:0016341,MONDO:0017024,MONDO:0018150,MONDO:0018299,MONDO:0018377,MONDO:0019058,MONDO:0020143,MONDO:0044976 subclass MONDO:0009267 Gaucher disease type III OMIM OMIM:231000 one_to_one MONDO:0009267 Gaucher disease type III Orphanet Orphanet:77261 one_to_one MONDO:0009267 Gaucher disease type III SCTID SCTID:5963005 one_to_one +MONDO:0009267 Gaucher disease type III http http://identifiers.org/hgnc/4177 disease_has_basis_in_dysfunction_of MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome GARD GARD:0002445,GARD:0012504 inexact MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome ICD10 ICD10:E75.2 inexact MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome MONDO MONDO:0018150 subclass MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome OMIM OMIM:231005 one_to_one MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Orphanet Orphanet:2072 one_to_one MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome UMLS UMLS:C1856476,UMLS:C2931585 inexact +MONDO:0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome http http://identifiers.org/hgnc/4177 disease_has_basis_in_dysfunction_of MONDO:0009269 geleophysic dysplasia 1 MONDO MONDO:0000127 subclass MONDO:0009269 geleophysic dysplasia 1 OMIM OMIM:231050 one_to_one MONDO:0009269 geleophysic dysplasia 1 UMLS UMLS:C3278147 one_to_one +MONDO:0009269 geleophysic dysplasia 1 http http://identifiers.org/hgnc/14631 disease_has_basis_in_dysfunction_of MONDO:0009270 genito-palato-cardiac syndrome GARD GARD:0002460 one_to_one MONDO:0009270 genito-palato-cardiac syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009270 genito-palato-cardiac syndrome MESH MESH:C537683 one_to_one @@ -53635,6 +54692,7 @@ MONDO:0009271 geroderma osteodysplastica OMIM OMIM:231070 one_to_one MONDO:0009271 geroderma osteodysplastica Orphanet Orphanet:2078 one_to_one MONDO:0009271 geroderma osteodysplastica SCTID SCTID:254116003 one_to_one MONDO:0009271 geroderma osteodysplastica UMLS UMLS:C0432255 one_to_one +MONDO:0009271 geroderma osteodysplastica http http://identifiers.org/hgnc/25676 disease_has_basis_in_dysfunction_of MONDO:0009272 German syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009272 German syndrome MESH MESH:C562543 one_to_one MONDO:0009272 German syndrome MONDO MONDO:0015984,MONDO:0016009,MONDO:0016229,MONDO:0018722,MONDO:0019520 subclass @@ -53644,6 +54702,7 @@ MONDO:0009272 German syndrome UMLS UMLS:C3887495 one_to_one MONDO:0009273 hydatidiform mole, recurrent, 1 MONDO MONDO:0016785,MONDO:0018944 subclass MONDO:0009273 hydatidiform mole, recurrent, 1 OMIM OMIM:231090 one_to_one MONDO:0009273 hydatidiform mole, recurrent, 1 UMLS UMLS:C3463897 one_to_one +MONDO:0009273 hydatidiform mole, recurrent, 1 http http://identifiers.org/hgnc/22947 disease_has_basis_in_dysfunction_of MONDO:0009274 ghosal hematodiaphyseal dysplasia GARD GARD:0010297 one_to_one MONDO:0009274 ghosal hematodiaphyseal dysplasia ICD9 ICD9:756.59 inexact MONDO:0009274 ghosal hematodiaphyseal dysplasia MESH MESH:C565551 one_to_one @@ -53651,6 +54710,7 @@ MONDO:0009274 ghosal hematodiaphyseal dysplasia MONDO MONDO:0019703 subclass MONDO:0009274 ghosal hematodiaphyseal dysplasia OMIM OMIM:231095 one_to_one MONDO:0009274 ghosal hematodiaphyseal dysplasia Orphanet Orphanet:1802 one_to_one MONDO:0009274 ghosal hematodiaphyseal dysplasia SCTID SCTID:389214003 one_to_one +MONDO:0009274 ghosal hematodiaphyseal dysplasia http http://identifiers.org/hgnc/11609 disease_has_basis_in_dysfunction_of MONDO:0009275 neonatal hemochromatosis GARD GARD:0007172 one_to_one MONDO:0009275 neonatal hemochromatosis ICD10 ICD10:E83.1 inexact MONDO:0009275 neonatal hemochromatosis MESH MESH:C536394 one_to_one @@ -53670,17 +54730,20 @@ MONDO:0009276 Bernard-Soulier syndrome OMIM OMIM:231200 one_to_one MONDO:0009276 Bernard-Soulier syndrome Orphanet Orphanet:274 one_to_one MONDO:0009276 Bernard-Soulier syndrome SCTID SCTID:234478007 one_to_one 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 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 MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency GARD GARD:0009870 one_to_one MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency ICD10 ICD10:E71.3 inexact MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency MESH MESH:C535310 one_to_one MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency MONDO MONDO:0015123,MONDO:0015624,MONDO:0016401,MONDO:0017715,MONDO:0019058,MONDO:0019213 subclass MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency OMIM OMIM:231530 one_to_one MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency Orphanet Orphanet:71212 one_to_one +MONDO:0009278 hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency http http://identifiers.org/hgnc/4799 disease_has_basis_in_dysfunction_of MONDO:0009279 triple-A syndrome DOID DOID:0050602 one_to_one MONDO:0009279 triple-A syndrome EFO EFO:1001997 one_to_one MONDO:0009279 triple-A syndrome GARD GARD:0000457 one_to_one @@ -53692,6 +54755,7 @@ 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 MONDO:0009279 triple-A syndrome SCTID SCTID:45414006 one_to_one +MONDO:0009279 triple-A syndrome http http://identifiers.org/hgnc/13666 disease_has_basis_in_dysfunction_of MONDO:0009280 monosodium glutamate sensitivity ICD9 ICD9:989.89 one_to_one MONDO:0009280 monosodium glutamate sensitivity MESH MESH:C562377 one_to_one MONDO:0009280 monosodium glutamate sensitivity MONDO MONDO:0003847 subclass @@ -53707,6 +54771,7 @@ MONDO:0009281 glutaryl-CoA dehydrogenase deficiency OMIM OMIM:231670 one_to_one MONDO:0009281 glutaryl-CoA dehydrogenase deficiency Orphanet Orphanet:25 one_to_one MONDO:0009281 glutaryl-CoA dehydrogenase deficiency SCTID SCTID:76175005 one_to_one MONDO:0009281 glutaryl-CoA dehydrogenase deficiency UMLS UMLS:C0268595 one_to_one +MONDO:0009281 glutaryl-CoA dehydrogenase deficiency http http://identifiers.org/hgnc/4189 disease_has_basis_in_dysfunction_of 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 @@ -53715,6 +54780,7 @@ MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NCIT NCIT:C84907 one_to 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 MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency UMLS UMLS:C0268596 one_to_one +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency http http://identifiers.org/hgnc/3481,http://identifiers.org/hgnc/3482,http://identifiers.org/hgnc/3483 disease_has_basis_in_dysfunction_of MONDO:0009283 glutaric acidemia type 3 GARD GARD:0012469 one_to_one MONDO:0009283 glutaric acidemia type 3 ICD10 ICD10:E72.3 inexact MONDO:0009283 glutaric acidemia type 3 ICD9 ICD9:270.2 inexact @@ -53724,22 +54790,25 @@ MONDO:0009283 glutaric acidemia type 3 OMIM OMIM:231690 one_to_one MONDO:0009283 glutaric acidemia type 3 Orphanet Orphanet:35706 one_to_one MONDO:0009283 glutaric acidemia type 3 SCTID SCTID:238070003 one_to_one MONDO:0009283 glutaric acidemia type 3 UMLS UMLS:C0342873 one_to_one +MONDO:0009283 glutaric acidemia type 3 http http://identifiers.org/hgnc/16001 disease_has_basis_in_dysfunction_of MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria ICD10 ICD10:D55.1 inexact MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria MESH MESH:C565545 one_to_one MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria MONDO MONDO:0017909 subclass MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria OMIM OMIM:231900 one_to_one MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria Orphanet Orphanet:289849 one_to_one MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria UMLS UMLS:C1856399 one_to_one +MONDO:0009284 glutathione synthetase deficiency without 5-oxoprolinuria http http://identifiers.org/hgnc/4624 disease_has_basis_in_dysfunction_of MONDO:0009285 gamma-glutamyl transpeptidase deficiency GARD GARD:0010099 one_to_one MONDO:0009285 gamma-glutamyl transpeptidase deficiency GO GO:0036374 disease_has_basis_in_disruption_of MONDO:0009285 gamma-glutamyl transpeptidase deficiency ICD10 ICD10:E72.8 inexact MONDO:0009285 gamma-glutamyl transpeptidase deficiency ICD9 ICD9:270.8 inexact MONDO:0009285 gamma-glutamyl transpeptidase deficiency MESH MESH:C536836 one_to_one -MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO MONDO:0019052,MONDO:0019241,MONDO:0021196 subclass +MONDO:0009285 gamma-glutamyl transpeptidase deficiency MONDO MONDO:0019052,MONDO:0019241,MONDO:0044976 subclass MONDO:0009285 gamma-glutamyl transpeptidase deficiency OMIM OMIM:231950 one_to_one MONDO:0009285 gamma-glutamyl transpeptidase deficiency Orphanet Orphanet:33573 one_to_one MONDO:0009285 gamma-glutamyl transpeptidase deficiency SCTID SCTID:78586005 one_to_one MONDO:0009285 gamma-glutamyl transpeptidase deficiency UMLS UMLS:C0268524 one_to_one +MONDO:0009285 gamma-glutamyl transpeptidase deficiency http http://identifiers.org/hgnc/4250 disease_has_basis_in_dysfunction_of 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 @@ -53751,27 +54820,29 @@ MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency t 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 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:0018220 subclass +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 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:0018220 subclass +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,MONDO:0024573 subclass +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 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 MONDO:0009290 glycogen storage disease II Orphanet Orphanet:365 one_to_one MONDO:0009290 glycogen storage disease II UMLS UMLS:C0017921,UMLS:C1968741,UMLS:C3695005 inexact +MONDO:0009290 glycogen storage disease II http http://identifiers.org/hgnc/4065 disease_has_basis_in_dysfunction_of MONDO:0009291 glycogen storage disease III DOID DOID:2748 one_to_one MONDO:0009291 glycogen storage disease III GARD GARD:0009442 one_to_one MONDO:0009291 glycogen storage disease III ICD10 ICD10:E74.0,ICD10:E74.03 inexact @@ -53782,6 +54853,7 @@ MONDO:0009291 glycogen storage disease III OMIM OMIM:232400 one_to_one MONDO:0009291 glycogen storage disease III Orphanet Orphanet:366 one_to_one MONDO:0009291 glycogen storage disease III SCTID SCTID:66937008 one_to_one MONDO:0009291 glycogen storage disease III UMLS UMLS:C0017922,UMLS:CN204781 inexact +MONDO:0009291 glycogen storage disease III http http://identifiers.org/hgnc/321 disease_has_basis_in_dysfunction_of MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency DOID DOID:2750 one_to_one 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 @@ -53793,6 +54865,7 @@ MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficien MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency Orphanet Orphanet:367 one_to_one MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency SCTID SCTID:124267007 one_to_one MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency UMLS UMLS:C0017923,UMLS:CN204783 inexact +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency http http://identifiers.org/hgnc/4180 disease_has_basis_in_dysfunction_of 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 @@ -53804,6 +54877,7 @@ MONDO:0009293 glycogen storage disease V OMIM OMIM:232600 one_to_one MONDO:0009293 glycogen storage disease V Orphanet Orphanet:368 one_to_one MONDO:0009293 glycogen storage disease V SCTID SCTID:55912009 one_to_one MONDO:0009293 glycogen storage disease V UMLS UMLS:C0017924 one_to_one +MONDO:0009293 glycogen storage disease V http http://identifiers.org/hgnc/9726 disease_has_basis_in_dysfunction_of MONDO:0009294 glycogen storage disease VI DOID DOID:2754 one_to_one MONDO:0009294 glycogen storage disease VI GARD GARD:0006529 one_to_one MONDO:0009294 glycogen storage disease VI ICD10 ICD10:E74.0,ICD10:E74.09 inexact @@ -53815,6 +54889,7 @@ MONDO:0009294 glycogen storage disease VI OMIM OMIM:232700 one_to_one MONDO:0009294 glycogen storage disease VI Orphanet Orphanet:369 one_to_one MONDO:0009294 glycogen storage disease VI SCTID SCTID:29291001 one_to_one MONDO:0009294 glycogen storage disease VI UMLS UMLS:C0017925 one_to_one +MONDO:0009294 glycogen storage disease VI http http://identifiers.org/hgnc/9725 disease_has_basis_in_dysfunction_of 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 @@ -53826,6 +54901,7 @@ MONDO:0009295 glycogen storage disease VII OMIM OMIM:232800 one_to_one MONDO:0009295 glycogen storage disease VII Orphanet Orphanet:371 one_to_one MONDO:0009295 glycogen storage disease VII SCTID SCTID:89597008 one_to_one MONDO:0009295 glycogen storage disease VII UMLS UMLS:C0017926 one_to_one +MONDO:0009295 glycogen storage disease VII http http://identifiers.org/hgnc/8877 disease_has_basis_in_dysfunction_of MONDO:0009296 glycoprotein storage disease MESH MESH:C565538 one_to_one MONDO:0009296 glycoprotein storage disease MONDO MONDO:0002561 subclass MONDO:0009296 glycoprotein storage disease OMIM OMIM:232900 one_to_one @@ -53845,6 +54921,7 @@ MONDO:0009297 familial renal glucosuria OMIM OMIM:233100 one_to_one MONDO:0009297 familial renal glucosuria Orphanet Orphanet:69076 one_to_one MONDO:0009297 familial renal glucosuria SCTID SCTID:267430007 one_to_one MONDO:0009297 familial renal glucosuria UMLS UMLS:C0017980,UMLS:C3245525 inexact +MONDO:0009297 familial renal glucosuria http http://identifiers.org/hgnc/11037 disease_has_basis_in_dysfunction_of MONDO:0009298 GOMBO syndrome GARD GARD:0002537 one_to_one MONDO:0009298 GOMBO syndrome MESH MESH:C537284 one_to_one MONDO:0009298 GOMBO syndrome MONDO MONDO:0003847 subclass @@ -53862,9 +54939,11 @@ MONDO:0009299 46 XX gonadal dysgenesis SCTID SCTID:95198001 one_to_one MONDO:0009299 46 XX gonadal dysgenesis UMLS UMLS:C0949595 one_to_one MONDO:0009300 Perrault syndrome 1 MONDO MONDO:0017312 subclass MONDO:0009300 Perrault syndrome 1 OMIM OMIM:233400 one_to_one +MONDO:0009300 Perrault syndrome 1 http http://identifiers.org/hgnc/5213 disease_has_basis_in_dysfunction_of MONDO:0009301 46,XY sex reversal 7 MESH MESH:C565537 one_to_one MONDO:0009301 46,XY sex reversal 7 MONDO MONDO:0010765 subclass MONDO:0009301 46,XY sex reversal 7 OMIM OMIM:233420 one_to_one +MONDO:0009301 46,XY sex reversal 7 http http://identifiers.org/hgnc/2865 disease_has_basis_in_dysfunction_of MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome GARD GARD:0002541 one_to_one MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome ICD10 ICD10:Q99.1 inexact MONDO:0009302 XY type gonadal dysgenesis-associated anomalies syndrome MESH MESH:C565536 one_to_one @@ -53905,6 +54984,7 @@ MONDO:0009306 combined immunodeficiency with skin granulomas MONDO MONDO:0018814 MONDO:0009306 combined immunodeficiency with skin granulomas OMIM OMIM:233650 one_to_one MONDO:0009306 combined immunodeficiency with skin granulomas Orphanet Orphanet:157949 one_to_one MONDO:0009306 combined immunodeficiency with skin granulomas UMLS UMLS:C2673536 one_to_one +MONDO:0009306 combined immunodeficiency with skin granulomas http http://identifiers.org/hgnc/9831,http://identifiers.org/hgnc/9832 disease_has_basis_in_dysfunction_of MONDO:0009307 granulomatous disease with defect 1N neutrophil chemotaxis MESH MESH:C565534 one_to_one MONDO:0009307 granulomatous disease with defect 1N neutrophil chemotaxis MONDO MONDO:0018305 subclass MONDO:0009307 granulomatous disease with defect 1N neutrophil chemotaxis OMIM OMIM:233670 one_to_one @@ -53913,14 +54993,17 @@ MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b- MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative MONDO MONDO:0018305 subclass MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative OMIM OMIM:233690 one_to_one MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative UMLS UMLS:C1856255 one_to_one +MONDO:0009308 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative http http://identifiers.org/hgnc/2577 disease_has_basis_in_dysfunction_of MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MESH MESH:C565532 one_to_one MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 MONDO MONDO:0018305 subclass MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 OMIM OMIM:233700 one_to_one MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 UMLS UMLS:C1856251 one_to_one +MONDO:0009309 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1 http http://identifiers.org/hgnc/7660 disease_has_basis_in_dysfunction_of MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MESH MESH:C565531 one_to_one MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 MONDO MONDO:0018305 subclass MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 OMIM OMIM:233710 one_to_one MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 UMLS UMLS:C1856245 one_to_one +MONDO:0009310 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 http http://identifiers.org/hgnc/7661 disease_has_basis_in_dysfunction_of MONDO:0009311 grouped pigmentation of the retina MESH MESH:C565530 one_to_one MONDO:0009311 grouped pigmentation of the retina MONDO MONDO:0003847 subclass MONDO:0009311 grouped pigmentation of the retina OMIM OMIM:233800 one_to_one @@ -53947,6 +55030,7 @@ MONDO:0009314 GTP-cyclohydrolase I deficiency OMIM OMIM:233910 one_to_one MONDO:0009314 GTP-cyclohydrolase I deficiency Orphanet Orphanet:2102 one_to_one MONDO:0009314 GTP-cyclohydrolase I deficiency SCTID SCTID:23447005 one_to_one MONDO:0009314 GTP-cyclohydrolase I deficiency UMLS UMLS:C0268467 one_to_one +MONDO:0009314 GTP-cyclohydrolase I deficiency http http://identifiers.org/hgnc/4193 disease_has_basis_in_dysfunction_of MONDO:0009315 congenital factor XII deficiency DOID DOID:2231 one_to_one MONDO:0009315 congenital factor XII deficiency GARD GARD:0006558 one_to_one MONDO:0009315 congenital factor XII deficiency HP HP:0004841 disease_arises_from_feature @@ -53959,6 +55043,7 @@ MONDO:0009315 congenital factor XII deficiency OMIM OMIM:234000 one_to_one MONDO:0009315 congenital factor XII deficiency Orphanet Orphanet:330 one_to_one MONDO:0009315 congenital factor XII deficiency SCTID SCTID:46981006 one_to_one 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 @@ -53986,6 +55071,7 @@ MONDO:0009319 pantothenate kinase-associated neurodegeneration OMIM OMIM:234200 MONDO:0009319 pantothenate kinase-associated neurodegeneration Orphanet Orphanet:157850 one_to_one MONDO:0009319 pantothenate kinase-associated neurodegeneration SCTID SCTID:2992000 one_to_one MONDO:0009319 pantothenate kinase-associated neurodegeneration UMLS UMLS:C0018523 one_to_one +MONDO:0009319 pantothenate kinase-associated neurodegeneration http http://identifiers.org/hgnc/15894 disease_has_basis_in_dysfunction_of 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 @@ -54021,6 +55107,7 @@ MONDO:0009324 Hartnup disease OMIM OMIM:234500 one_to_one MONDO:0009324 Hartnup disease Orphanet Orphanet:2116 one_to_one MONDO:0009324 Hartnup disease SCTID SCTID:80902009 one_to_one MONDO:0009324 Hartnup disease UMLS UMLS:C0018609 one_to_one +MONDO:0009324 Hartnup disease http http://identifiers.org/hgnc/27960 disease_has_basis_in_dysfunction_of MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome GARD GARD:0001687 one_to_one MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome MESH MESH:C535994 one_to_one MONDO:0009325 deafness-enamel hypoplasia-nail defects syndrome MONDO MONDO:0015327,MONDO:0015336,MONDO:0019234,MONDO:0019287,MONDO:0019589 subclass @@ -54054,6 +55141,7 @@ MONDO:0009329 pulmonary capillary hemangiomatosis OMIM OMIM:234810 one_to_one MONDO:0009329 pulmonary capillary hemangiomatosis Orphanet Orphanet:199241 one_to_one MONDO:0009329 pulmonary capillary hemangiomatosis SCTID SCTID:233949008 one_to_one MONDO:0009329 pulmonary capillary hemangiomatosis UMLS UMLS:C0340548 one_to_one +MONDO:0009329 pulmonary capillary hemangiomatosis http http://identifiers.org/hgnc/19687 disease_has_basis_in_dysfunction_of MONDO:0009330 hemangiopericytoma, malignant GARD GARD:0002627 one_to_one MONDO:0009330 hemangiopericytoma, malignant ICDO ICDO:9150/3 one_to_one MONDO:0009330 hemangiopericytoma, malignant MESH MESH:C562740 one_to_one @@ -54081,11 +55169,13 @@ MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells OMIM OMIM:2 MONDO:0009334 hemolytic anemia with thermal sensitivity of red cells UMLS UMLS:C1856158 one_to_one MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 MONDO MONDO:0016244 subclass MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 OMIM OMIM:235400 one_to_one +MONDO:0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 http http://identifiers.org/hgnc/16980,http://identifiers.org/hgnc/4883,http://identifiers.org/hgnc/4888 disease_has_basis_in_dysfunction_of MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin MONDO MONDO:0008346 subclass MONDO:0009336 hemosiderosis, pulmonary, with deficiency of gamma-a globulin OMIM OMIM:235500 one_to_one MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 MONDO MONDO:0016256 subclass MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 OMIM OMIM:235510 one_to_one MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 UMLS UMLS:C4012050 one_to_one +MONDO:0009337 Hennekam lymphangiectasia-lymphedema syndrome 1 http http://identifiers.org/hgnc/29426 disease_has_basis_in_dysfunction_of MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome GARD GARD:0010083 one_to_one MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome ICD10 ICD10:K76.5 inexact MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MESH MESH:C537257 one_to_one @@ -54093,6 +55183,7 @@ MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome MONDO MON MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome OMIM OMIM:235550 one_to_one MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome Orphanet Orphanet:79124 one_to_one MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome UMLS UMLS:C1856128 one_to_one +MONDO:0009338 hepatic veno-occlusive disease-immunodeficiency syndrome http http://identifiers.org/hgnc/5401 disease_has_basis_in_dysfunction_of MONDO:0009339 congenital bile acid synthesis defect 2 DOID DOID:0111069 one_to_one MONDO:0009339 congenital bile acid synthesis defect 2 GARD GARD:0010045 one_to_one MONDO:0009339 congenital bile acid synthesis defect 2 ICD10 ICD10:K76.8 inexact @@ -54101,12 +55192,14 @@ MONDO:0009339 congenital bile acid synthesis defect 2 MONDO MONDO:0018841 subcla MONDO:0009339 congenital bile acid synthesis defect 2 OMIM OMIM:235555 one_to_one MONDO:0009339 congenital bile acid synthesis defect 2 Orphanet Orphanet:79303 one_to_one MONDO:0009339 congenital bile acid synthesis defect 2 UMLS UMLS:C1856127 one_to_one +MONDO:0009339 congenital bile acid synthesis defect 2 http http://identifiers.org/hgnc/388 disease_has_basis_in_dysfunction_of MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency GARD GARD:0003672 one_to_one MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency ICD10 ICD10:D55.2 inexact MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency MESH MESH:C562995 one_to_one MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency MONDO MONDO:0020106 subclass MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency OMIM OMIM:235700 one_to_one MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency Orphanet Orphanet:90031 one_to_one +MONDO:0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency http http://identifiers.org/hgnc/4922 disease_has_basis_in_dysfunction_of MONDO:0009341 Mowat-Wilson syndrome DOID DOID:0060485 one_to_one MONDO:0009341 Mowat-Wilson syndrome GARD GARD:0009673 one_to_one MONDO:0009341 Mowat-Wilson syndrome ICD10 ICD10:Q43.1 inexact @@ -54118,6 +55211,7 @@ MONDO:0009341 Mowat-Wilson syndrome OMIM OMIM:235730 one_to_one MONDO:0009341 Mowat-Wilson syndrome Orphanet Orphanet:2152 one_to_one MONDO:0009341 Mowat-Wilson syndrome SCTID SCTID:703535000 one_to_one MONDO:0009341 Mowat-Wilson syndrome UMLS UMLS:C1856113 one_to_one +MONDO:0009341 Mowat-Wilson syndrome http http://identifiers.org/hgnc/14881 disease_has_basis_in_dysfunction_of MONDO:0009342 Hirschsprung disease-deafness-polydactyly syndrome GARD GARD:0000157 one_to_one MONDO:0009342 Hirschsprung disease-deafness-polydactyly syndrome ICD10 ICD10:Q43.1 inexact MONDO:0009342 Hirschsprung disease-deafness-polydactyly syndrome MESH MESH:C565518 one_to_one @@ -54146,6 +55240,7 @@ MONDO:0009345 histidinemia OMIM OMIM:235800 one_to_one MONDO:0009345 histidinemia Orphanet Orphanet:2157 one_to_one MONDO:0009345 histidinemia SCTID SCTID:410058007 one_to_one MONDO:0009345 histidinemia UMLS UMLS:C0220992 one_to_one +MONDO:0009345 histidinemia http http://identifiers.org/hgnc/4806 disease_has_basis_in_dysfunction_of MONDO:0009346 histidinuria due to a renal tubular defect GARD GARD:0002708 one_to_one MONDO:0009346 histidinuria due to a renal tubular defect MESH MESH:C538321 one_to_one MONDO:0009346 histidinuria due to a renal tubular defect MONDO MONDO:0021568 disease_arises_from_feature @@ -54160,6 +55255,7 @@ MONDO:0009348 classic Hodgkin lymphoma ICD10 ICD10:C81.0,ICD10:C81.1,ICD10:C81.2 MONDO:0009348 classic Hodgkin lymphoma MONDO MONDO:0004952 subclass MONDO:0009348 classic Hodgkin lymphoma NCIT NCIT:C7164 one_to_one MONDO:0009348 classic Hodgkin lymphoma OMIM OMIM:236000 one_to_one +MONDO:0009348 classic Hodgkin lymphoma ONCOTREE ONCOTREE:CHL one_to_one MONDO:0009348 classic Hodgkin lymphoma Orphanet Orphanet:391 one_to_one MONDO:0009349 holoprosencephaly 1 DOID DOID:0110881 one_to_one MONDO:0009349 holoprosencephaly 1 ICD10 ICD10:Q04.1 one_to_one @@ -54193,12 +55289,14 @@ MONDO:0009352 classic homocystinuria OMIM OMIM:236200 one_to_one MONDO:0009352 classic homocystinuria Orphanet Orphanet:394 one_to_one MONDO:0009352 classic homocystinuria SCTID SCTID:24308003 one_to_one 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 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 +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency http http://identifiers.org/hgnc/7436 disease_has_basis_in_dysfunction_of MONDO:0009354 methylcobalamin deficiency type cblE DOID DOID:0050732 one_to_one MONDO:0009354 methylcobalamin deficiency type cblE EFO EFO:0005568 one_to_one MONDO:0009354 methylcobalamin deficiency type cblE GARD GARD:0002732 one_to_one @@ -54210,6 +55308,7 @@ MONDO:0009354 methylcobalamin deficiency type cblE NCIT NCIT:C142173 one_to_one MONDO:0009354 methylcobalamin deficiency type cblE OMIM OMIM:236270 one_to_one MONDO:0009354 methylcobalamin deficiency type cblE Orphanet Orphanet:2169 one_to_one MONDO:0009354 methylcobalamin deficiency type cblE UMLS UMLS:C1856057 one_to_one +MONDO:0009354 methylcobalamin deficiency type cblE http http://identifiers.org/hgnc/7473 disease_has_basis_in_dysfunction_of MONDO:0009355 Hooft disease GARD GARD:0009702 one_to_one MONDO:0009355 Hooft disease MESH MESH:C535329 one_to_one MONDO:0009355 Hooft disease MONDO MONDO:0003847 subclass @@ -54232,10 +55331,12 @@ MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hyp MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome OMIM OMIM:236500 one_to_one MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome Orphanet Orphanet:500135 one_to_one MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome UMLS UMLS:C1856053 one_to_one +MONDO:0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome http http://identifiers.org/hgnc/1161 disease_has_basis_in_dysfunction_of MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 GARD GARD:0006682 one_to_one MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 MONDO MONDO:0016349 subclass MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 OMIM OMIM:236600 one_to_one MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 UMLS UMLS:C3887608 one_to_one +MONDO:0009360 hydrocephalus, nonsyndromic, autosomal recessive 1 http http://identifiers.org/hgnc/19967 disease_has_basis_in_dysfunction_of MONDO:0009361 hydrocephalus due to congenital stenosis of aqueduct of Sylvius MONDO MONDO:0010611 subclass MONDO:0009361 hydrocephalus due to congenital stenosis of aqueduct of Sylvius OMIM OMIM:236635 one_to_one MONDO:0009361 hydrocephalus due to congenital stenosis of aqueduct of Sylvius UMLS UMLS:CN074258 one_to_one @@ -54258,10 +55359,12 @@ MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and e MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 NCIT NCIT:C128118 one_to_one MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 OMIM OMIM:236670 one_to_one MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 UMLS UMLS:C4284790,UMLS:CN033898 inexact +MONDO:0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 http http://identifiers.org/hgnc/17997,http://identifiers.org/hgnc/19743,http://identifiers.org/hgnc/3622,http://identifiers.org/hgnc/6511,http://identifiers.org/hgnc/9202 disease_has_basis_in_dysfunction_of MONDO:0009365 hydrolethalus syndrome 1 MESH MESH:C565504 one_to_one MONDO:0009365 hydrolethalus syndrome 1 MONDO MONDO:0006037 subclass MONDO:0009365 hydrolethalus syndrome 1 OMIM OMIM:236680 one_to_one MONDO:0009365 hydrolethalus syndrome 1 UMLS UMLS:C1856016 one_to_one +MONDO:0009365 hydrolethalus syndrome 1 http http://identifiers.org/hgnc/26558 disease_has_basis_in_dysfunction_of MONDO:0009366 normal pressure hydrocephalus COHD COHD:432899 one_to_one MONDO:0009366 normal pressure hydrocephalus DOID DOID:1572 one_to_one MONDO:0009366 normal pressure hydrocephalus EFO EFO:1001065 one_to_one @@ -54284,8 +55387,11 @@ MONDO:0009367 McKusick-Kaufman syndrome OMIM OMIM:236700 one_to_one MONDO:0009367 McKusick-Kaufman syndrome Orphanet Orphanet:2473 one_to_one MONDO:0009367 McKusick-Kaufman syndrome SCTID SCTID:702407009 one_to_one MONDO:0009367 McKusick-Kaufman syndrome UMLS UMLS:C0948368 one_to_one +MONDO:0009367 McKusick-Kaufman syndrome http http://identifiers.org/hgnc/7108 disease_has_basis_in_dysfunction_of MONDO:0009368 urofacial syndrome type 1 MONDO MONDO:0000463 subclass MONDO:0009368 urofacial syndrome type 1 OMIM OMIM:236730 one_to_one +MONDO:0009368 urofacial syndrome type 1 http http://identifiers.org/hgnc/18374 disease_has_basis_in_dysfunction_of +MONDO:0009369 non-immune hydrops fetalis EFO EFO:0009051 one_to_one MONDO:0009369 non-immune hydrops fetalis ICD10 ICD10:P56.9,ICD10:P83.2 inexact MONDO:0009369 non-immune hydrops fetalis ICD9 ICD9:778.0 one_to_one MONDO:0009369 non-immune hydrops fetalis MONDO MONDO:0003847,MONDO:0015193,MONDO:0015960 subclass @@ -54302,6 +55408,7 @@ MONDO:0009370 L-2-hydroxyglutaric aciduria OMIM OMIM:236792 one_to_one MONDO:0009370 L-2-hydroxyglutaric aciduria Orphanet Orphanet:79314 one_to_one MONDO:0009370 L-2-hydroxyglutaric aciduria SCTID SCTID:237961001 one_to_one MONDO:0009370 L-2-hydroxyglutaric aciduria UMLS UMLS:C1855995,UMLS:C3888081 inexact +MONDO:0009370 L-2-hydroxyglutaric aciduria http http://identifiers.org/hgnc/20499 disease_has_basis_in_dysfunction_of MONDO:0009371 3-hydroxyisobutyric aciduria GARD GARD:0005662 one_to_one MONDO:0009371 3-hydroxyisobutyric aciduria ICD10 ICD10:E71.1 inexact MONDO:0009371 3-hydroxyisobutyric aciduria ICD9 ICD9:791.9 one_to_one @@ -54320,6 +55427,7 @@ MONDO:0009372 encephalopathy due to hydroxykynureninuria OMIM OMIM:236800 one_to MONDO:0009372 encephalopathy due to hydroxykynureninuria Orphanet Orphanet:79155 one_to_one MONDO:0009372 encephalopathy due to hydroxykynureninuria SCTID SCTID:72945002 one_to_one MONDO:0009372 encephalopathy due to hydroxykynureninuria UMLS UMLS:C0268474 one_to_one +MONDO:0009372 encephalopathy due to hydroxykynureninuria http http://identifiers.org/hgnc/6469 disease_has_basis_in_dysfunction_of MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome ICD10 ICD10:E72.3 inexact MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MESH MESH:C565502 one_to_one MONDO:0009373 seizures-intellectual disability due to hydroxylysinuria syndrome MONDO MONDO:0017351 subclass @@ -54352,6 +55460,7 @@ MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease NCIT NCIT:C846 MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease OMIM OMIM:237300 one_to_one MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease Orphanet Orphanet:147 one_to_one MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease SCTID SCTID:62522004 one_to_one +MONDO:0009376 carbamoyl phosphate synthetase I deficiency disease http http://identifiers.org/hgnc/2323 disease_has_basis_in_dysfunction_of MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency GARD GARD:0007158 one_to_one MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency ICD10 ICD10:E72.2 inexact MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency MESH MESH:C536109 one_to_one @@ -54360,6 +55469,7 @@ MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency NCIT N MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency OMIM OMIM:237310 one_to_one MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency Orphanet Orphanet:927 one_to_one MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency SCTID SCTID:57119000 one_to_one +MONDO:0009377 hyperammonemia due to N-acetylglutamate synthase deficiency http http://identifiers.org/hgnc/17996 disease_has_basis_in_dysfunction_of 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 @@ -54377,6 +55487,7 @@ MONDO:0009379 Rotor syndrome OMIM OMIM:237450 one_to_one MONDO:0009379 Rotor syndrome Orphanet Orphanet:3111 one_to_one MONDO:0009379 Rotor syndrome SCTID SCTID:32891000 one_to_one MONDO:0009379 Rotor syndrome UMLS UMLS:C0220991 one_to_one +MONDO:0009379 Rotor syndrome http http://identifiers.org/hgnc/10959,http://identifiers.org/hgnc/10961 disease_has_basis_in_dysfunction_of MONDO:0009380 Dubin-Johnson syndrome DOID DOID:12308 one_to_one MONDO:0009380 Dubin-Johnson syndrome GARD GARD:0002793,GARD:0006289 inexact MONDO:0009380 Dubin-Johnson syndrome ICD10 ICD10:E80.6 inexact @@ -54388,6 +55499,7 @@ MONDO:0009380 Dubin-Johnson syndrome OMIM OMIM:237500 one_to_one MONDO:0009380 Dubin-Johnson syndrome Orphanet Orphanet:234 one_to_one MONDO:0009380 Dubin-Johnson syndrome SCTID SCTID:44553005 one_to_one MONDO:0009380 Dubin-Johnson syndrome UMLS UMLS:C0022350 one_to_one +MONDO:0009380 Dubin-Johnson syndrome http http://identifiers.org/hgnc/53 disease_has_basis_in_dysfunction_of MONDO:0009381 hyperbilirubinemia, conjugated, type 3 MESH MESH:C562885 one_to_one MONDO:0009381 hyperbilirubinemia, conjugated, type 3 MONDO MONDO:0002408 subclass MONDO:0009381 hyperbilirubinemia, conjugated, type 3 OMIM OMIM:237550 one_to_one @@ -54402,8 +55514,10 @@ MONDO:0009383 transient familial neonatal hyperbilirubinemia MONDO MONDO:0002408 MONDO:0009383 transient familial neonatal hyperbilirubinemia OMIM OMIM:237900 one_to_one MONDO:0009383 transient familial neonatal hyperbilirubinemia Orphanet Orphanet:2312 one_to_one MONDO:0009383 transient familial neonatal hyperbilirubinemia UMLS UMLS:C0270210 one_to_one +MONDO:0009383 transient familial neonatal hyperbilirubinemia http http://identifiers.org/hgnc/12530 disease_has_basis_in_dysfunction_of MONDO:0009384 Leydig cell hypoplasia, type 1 MONDO MONDO:0019155 subclass MONDO:0009384 Leydig cell hypoplasia, type 1 OMIM OMIM:238320 one_to_one +MONDO:0009384 Leydig cell hypoplasia, type 1 http http://identifiers.org/hgnc/6585 disease_has_basis_in_dysfunction_of MONDO:0009385 hyperleucine-Isoleucinemia MESH MESH:C562674 one_to_one MONDO:0009385 hyperleucine-Isoleucinemia MONDO MONDO:0003847 subclass MONDO:0009385 hyperleucine-Isoleucinemia OMIM OMIM:238340 one_to_one @@ -54421,6 +55535,7 @@ MONDO:0009387 familial lipoprotein lipase deficiency MONDO MONDO:0018637,MONDO:0 MONDO:0009387 familial lipoprotein lipase deficiency NCIT NCIT:C84771 one_to_one MONDO:0009387 familial lipoprotein lipase deficiency OMIM OMIM:238600 one_to_one MONDO:0009387 familial lipoprotein lipase deficiency Orphanet Orphanet:309015 one_to_one +MONDO:0009387 familial lipoprotein lipase deficiency http http://identifiers.org/hgnc/6677 disease_has_basis_in_dysfunction_of MONDO:0009388 hyperlysinemia (disease) DOID DOID:9274 one_to_one MONDO:0009388 hyperlysinemia (disease) GARD GARD:0002828 one_to_one MONDO:0009388 hyperlysinemia (disease) HP HP:0002161 one_to_one @@ -54432,6 +55547,7 @@ MONDO:0009388 hyperlysinemia (disease) OMIM OMIM:238700 one_to_one MONDO:0009388 hyperlysinemia (disease) Orphanet Orphanet:2203 one_to_one MONDO:0009388 hyperlysinemia (disease) SCTID SCTID:58558003 one_to_one MONDO:0009388 hyperlysinemia (disease) UMLS UMLS:C0268553 one_to_one +MONDO:0009388 hyperlysinemia (disease) http http://identifiers.org/hgnc/17366 disease_has_basis_in_dysfunction_of MONDO:0009389 hyperlysinemia due to defect 1N lysine transport into mitochondria MESH MESH:C565499 one_to_one MONDO:0009389 hyperlysinemia due to defect 1N lysine transport into mitochondria MONDO MONDO:0009388 subclass MONDO:0009389 hyperlysinemia due to defect 1N lysine transport into mitochondria OMIM OMIM:238710 one_to_one @@ -54459,6 +55575,7 @@ MONDO:0009393 ornithine translocase deficiency OMIM OMIM:238970 one_to_one MONDO:0009393 ornithine translocase deficiency Orphanet Orphanet:415 one_to_one MONDO:0009393 ornithine translocase deficiency SCTID SCTID:30287008 one_to_one MONDO:0009393 ornithine translocase deficiency UMLS UMLS:C0268540 one_to_one +MONDO:0009393 ornithine translocase deficiency http http://identifiers.org/hgnc/10985 disease_has_basis_in_dysfunction_of MONDO:0009394 juvenile Paget disease GARD GARD:0002831 one_to_one MONDO:0009394 juvenile Paget disease ICD10 ICD10:M88.0,ICD10:M88.8,ICD10:M88.9 inexact MONDO:0009394 juvenile Paget disease MESH MESH:C537701 one_to_one @@ -54467,6 +55584,7 @@ MONDO:0009394 juvenile Paget disease NCIT NCIT:C131861 one_to_one MONDO:0009394 juvenile Paget disease OMIM OMIM:239000 one_to_one MONDO:0009394 juvenile Paget disease Orphanet Orphanet:2801 one_to_one MONDO:0009394 juvenile Paget disease SCTID SCTID:9723006 one_to_one +MONDO:0009394 juvenile Paget disease http http://identifiers.org/hgnc/11909 disease_has_basis_in_dysfunction_of MONDO:0009395 hyperostosis corticalis generalisata DOID DOID:0080036 one_to_one MONDO:0009395 hyperostosis corticalis generalisata GARD GARD:0002833 one_to_one MONDO:0009395 hyperostosis corticalis generalisata HP HP:0001548,HP:0100774 disease_has_feature @@ -54476,6 +55594,7 @@ MONDO:0009395 hyperostosis corticalis generalisata NCIT NCIT:C131812 one_to_one MONDO:0009395 hyperostosis corticalis generalisata OMIM OMIM:239100 one_to_one MONDO:0009395 hyperostosis corticalis generalisata Orphanet Orphanet:3416 one_to_one MONDO:0009395 hyperostosis corticalis generalisata SCTID SCTID:59763006 one_to_one +MONDO:0009395 hyperostosis corticalis generalisata http http://identifiers.org/hgnc/13771 disease_has_basis_in_dysfunction_of MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria MESH MESH:C565496 one_to_one MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria MONDO MONDO:0003847 subclass MONDO:0009396 hyperparathyroidism, neonatal self-limited primary, with hypercalciuria OMIM OMIM:239199 one_to_one @@ -54489,9 +55608,11 @@ MONDO:0009397 neonatal severe primary hyperparathyroidism OMIM OMIM:239200 one_t MONDO:0009397 neonatal severe primary hyperparathyroidism Orphanet Orphanet:417 one_to_one MONDO:0009397 neonatal severe primary hyperparathyroidism SCTID SCTID:715218009 one_to_one MONDO:0009397 neonatal severe primary hyperparathyroidism UMLS UMLS:C1832615 one_to_one -MONDO:0009398 hyperphosphatasia with mental retardation syndrome 1 MONDO MONDO:0016596 subclass -MONDO:0009398 hyperphosphatasia with mental retardation syndrome 1 OMIM OMIM:239300 one_to_one -MONDO:0009398 hyperphosphatasia with mental retardation syndrome 1 UMLS UMLS:CN030519 one_to_one +MONDO:0009397 neonatal severe primary hyperparathyroidism http http://identifiers.org/hgnc/1514 disease_has_basis_in_dysfunction_of +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 MONDO MONDO:0016596 subclass +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 OMIM OMIM:239300 one_to_one +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 UMLS UMLS:CN030519 one_to_one +MONDO:0009398 hyperphosphatasia with intellectual disability syndrome 1 http http://identifiers.org/hgnc/26031 disease_has_basis_in_dysfunction_of MONDO:0009399 hyperphosphatemia, polyuria, and seizures MESH MESH:C565494 one_to_one MONDO:0009399 hyperphosphatemia, polyuria, and seizures MONDO MONDO:0003847 subclass MONDO:0009399 hyperphosphatemia, polyuria, and seizures OMIM OMIM:239350 one_to_one @@ -54503,6 +55624,7 @@ MONDO:0009400 hyperprolinemia type 1 MedDRA MedDRA:10058513 one_to_one MONDO:0009400 hyperprolinemia type 1 OMIM OMIM:239500 one_to_one MONDO:0009400 hyperprolinemia type 1 Orphanet Orphanet:419 one_to_one MONDO:0009400 hyperprolinemia type 1 SCTID SCTID:61071003 one_to_one +MONDO:0009400 hyperprolinemia type 1 http http://identifiers.org/hgnc/9453 disease_has_basis_in_dysfunction_of MONDO:0009401 hyperprolinemia type 2 GARD GARD:0006710 one_to_one MONDO:0009401 hyperprolinemia type 2 ICD10 ICD10:E72.5 inexact MONDO:0009401 hyperprolinemia type 2 MESH MESH:C538385 one_to_one @@ -54512,6 +55634,7 @@ MONDO:0009401 hyperprolinemia type 2 OMIM OMIM:239510 one_to_one MONDO:0009401 hyperprolinemia type 2 Orphanet Orphanet:79101 one_to_one MONDO:0009401 hyperprolinemia type 2 SCTID SCTID:717181004 one_to_one MONDO:0009401 hyperprolinemia type 2 UMLS UMLS:C2931835 one_to_one +MONDO:0009401 hyperprolinemia type 2 http http://identifiers.org/hgnc/406 disease_has_basis_in_dysfunction_of MONDO:0009402 hypertelorism-hypospadias-polysyndactyly syndrome GARD GARD:0000287 one_to_one MONDO:0009402 hypertelorism-hypospadias-polysyndactyly syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009402 hypertelorism-hypospadias-polysyndactyly syndrome MESH MESH:C538332 one_to_one @@ -54550,6 +55673,7 @@ MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type OMIM OMIM:239850 o MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type Orphanet Orphanet:1517 one_to_one MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type SCTID SCTID:239087008 one_to_one MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type UMLS UMLS:C0795905 one_to_one +MONDO:0009406 hypertrichotic osteochondrodysplasia Cantu type http http://identifiers.org/hgnc/60 disease_has_basis_in_dysfunction_of MONDO:0009407 hypertrophic neuropathy and cataract MESH MESH:C565490 one_to_one MONDO:0009407 hypertrophic neuropathy and cataract MONDO MONDO:0003847 subclass MONDO:0009407 hypertrophic neuropathy and cataract OMIM OMIM:239900 one_to_one @@ -54583,6 +55707,7 @@ MONDO:0009411 autoimmune polyendocrine syndrome type 1 OMIM OMIM:240300 one_to_o MONDO:0009411 autoimmune polyendocrine syndrome type 1 Orphanet Orphanet:3453 one_to_one MONDO:0009411 autoimmune polyendocrine syndrome type 1 SCTID SCTID:11244009 one_to_one MONDO:0009411 autoimmune polyendocrine syndrome type 1 UMLS UMLS:C0085859 one_to_one +MONDO:0009411 autoimmune polyendocrine syndrome type 1 http http://identifiers.org/hgnc/360 disease_has_basis_in_dysfunction_of MONDO:0009412 scurvy DOID DOID:13724 one_to_one MONDO:0009412 scurvy EFO EFO:1001169 one_to_one MONDO:0009412 scurvy GARD GARD:0010406 one_to_one @@ -54596,6 +55721,7 @@ MONDO:0009412 scurvy UMLS UMLS:C0036474 one_to_one MONDO:0009413 immunodeficiency, common variable, 2 MONDO MONDO:0015517 subclass MONDO:0009413 immunodeficiency, common variable, 2 OMIM OMIM:240500 one_to_one MONDO:0009413 immunodeficiency, common variable, 2 UMLS UMLS:C3150354 one_to_one +MONDO:0009413 immunodeficiency, common variable, 2 http http://identifiers.org/hgnc/1633,http://identifiers.org/hgnc/17755,http://identifiers.org/hgnc/18153,http://identifiers.org/hgnc/2336,http://identifiers.org/hgnc/5351 disease_has_basis_in_dysfunction_of 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 @@ -54604,16 +55730,20 @@ MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficien 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 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 MONDO:0009415 hypoglycemia, leucine-induced GARD GARD:0009915 one_to_one MONDO:0009415 hypoglycemia, leucine-induced MESH MESH:C537150 one_to_one MONDO:0009415 hypoglycemia, leucine-induced MONDO MONDO:0003847 subclass MONDO:0009415 hypoglycemia, leucine-induced OMIM OMIM:240800 one_to_one MONDO:0009415 hypoglycemia, leucine-induced SCTID SCTID:62151007 one_to_one MONDO:0009415 hypoglycemia, leucine-induced UMLS UMLS:C0271714 one_to_one +MONDO:0009415 hypoglycemia, leucine-induced http http://identifiers.org/hgnc/59 disease_has_basis_in_dysfunction_of MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy MONDO MONDO:0015513,MONDO:0019716 subclass MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy OMIM OMIM:240900 one_to_one MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy Orphanet Orphanet:293964 one_to_one MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy UMLS UMLS:CN203155 one_to_one +MONDO:0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy http http://identifiers.org/hgnc/392 disease_has_basis_in_dysfunction_of MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome GARD GARD:0000298 one_to_one MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome ICD10 ICD10:E29.1 inexact MONDO:0009417 hypergonadotropic hypogonadism-cataract syndrome MESH MESH:C543092 one_to_one @@ -54630,11 +55760,12 @@ MONDO:0009419 Woodhouse-Sakati syndrome GARD GARD:0005592 one_to_one MONDO:0009419 Woodhouse-Sakati syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009419 Woodhouse-Sakati syndrome ICD9 ICD9:759.89 inexact MONDO:0009419 Woodhouse-Sakati syndrome MESH MESH:C536742 one_to_one -MONDO:0009419 Woodhouse-Sakati syndrome MONDO MONDO:0015888,MONDO:0015890,MONDO:0015906,MONDO:0015967,MONDO:0015983,MONDO:0018265,MONDO:0018307,MONDO:0024237 subclass +MONDO:0009419 Woodhouse-Sakati syndrome MONDO MONDO:0015888,MONDO:0015890,MONDO:0015906,MONDO:0015967,MONDO:0015983,MONDO:0018265,MONDO:0018307,MONDO:0024237,MONDO:0044807 subclass MONDO:0009419 Woodhouse-Sakati syndrome OMIM OMIM:241080 one_to_one MONDO:0009419 Woodhouse-Sakati syndrome Orphanet Orphanet:3464 one_to_one MONDO:0009419 Woodhouse-Sakati syndrome SCTID SCTID:237616002 one_to_one MONDO:0009419 Woodhouse-Sakati syndrome UMLS UMLS:C0342286 one_to_one +MONDO:0009419 Woodhouse-Sakati syndrome http http://identifiers.org/hgnc/25784 disease_has_basis_in_dysfunction_of MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome ICD10 ICD10:E28.3,ICD10:E29.1 inexact MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome MESH MESH:C567109 one_to_one MONDO:0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome MONDO MONDO:0015906 subclass @@ -54661,6 +55792,7 @@ MONDO:0009424 Bartter disease type 2 MESH MESH:C537651 one_to_one MONDO:0009424 Bartter disease type 2 MONDO MONDO:0015231 subclass MONDO:0009424 Bartter disease type 2 OMIM OMIM:241200 one_to_one MONDO:0009424 Bartter disease type 2 SCTID SCTID:700109009 one_to_one +MONDO:0009424 Bartter disease type 2 http http://identifiers.org/hgnc/6255 disease_has_basis_in_dysfunction_of MONDO:0009425 hypomandibular faciocranial dysostosis GARD GARD:0002907 one_to_one MONDO:0009425 hypomandibular faciocranial dysostosis ICD10 ICD10:Q75.4 inexact MONDO:0009425 hypomandibular faciocranial dysostosis MESH MESH:C537154 one_to_one @@ -54677,6 +55809,7 @@ MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome NCIT NCIT:C133 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome OMIM OMIM:241410 one_to_one MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome Orphanet Orphanet:2323 one_to_one MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome UMLS UMLS:C1855840 one_to_one +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome http http://identifiers.org/hgnc/11582 disease_has_basis_in_dysfunction_of MONDO:0009427 infantile hypophosphatasia DOID DOID:0110914 one_to_one MONDO:0009427 infantile hypophosphatasia ICD10 ICD10:E83.3 inexact MONDO:0009427 infantile hypophosphatasia MONDO MONDO:0018570,MONDO:0020014 subclass @@ -54684,6 +55817,7 @@ MONDO:0009427 infantile hypophosphatasia OMIM OMIM:241500 one_to_one MONDO:0009427 infantile hypophosphatasia Orphanet Orphanet:247651 one_to_one MONDO:0009427 infantile hypophosphatasia SCTID SCTID:55236002 one_to_one MONDO:0009427 infantile hypophosphatasia UMLS UMLS:C0268412 one_to_one +MONDO:0009427 infantile hypophosphatasia http http://identifiers.org/hgnc/438 disease_has_basis_in_dysfunction_of MONDO:0009428 childhood hypophosphatasia DOID DOID:0110915 one_to_one MONDO:0009428 childhood hypophosphatasia GARD GARD:0008735 one_to_one MONDO:0009428 childhood hypophosphatasia HP HP:0011463 has_modifier @@ -54694,6 +55828,7 @@ MONDO:0009428 childhood hypophosphatasia OMIM OMIM:241510 one_to_one MONDO:0009428 childhood hypophosphatasia Orphanet Orphanet:247667 one_to_one MONDO:0009428 childhood hypophosphatasia SCTID SCTID:30174008 one_to_one MONDO:0009428 childhood hypophosphatasia UMLS UMLS:C0220743 one_to_one +MONDO:0009428 childhood hypophosphatasia http http://identifiers.org/hgnc/438 disease_has_basis_in_dysfunction_of MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications MESH MESH:C565478 one_to_one MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications MONDO MONDO:0003847 subclass MONDO:0009429 hypophosphatemia, renal, with intracerebral calcifications OMIM OMIM:241519 one_to_one @@ -54702,6 +55837,7 @@ MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 MESH MESH:C562792 MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 MONDO MONDO:0017324 subclass MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 OMIM OMIM:241520 one_to_one MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 UMLS UMLS:C0342643 one_to_one +MONDO:0009430 hypophosphatemic rickets, autosomal recessive, 1 http http://identifiers.org/hgnc/2932 disease_has_basis_in_dysfunction_of MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria DOID DOID:0050947 one_to_one MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria HP HP:0002150 disease_has_feature MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria ICD10 ICD10:E83.3 inexact @@ -54712,6 +55848,7 @@ MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria OMIM OMIM: MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria Orphanet Orphanet:157215 one_to_one MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria SCTID SCTID:237891005 one_to_one MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria UMLS UMLS:C1853271 one_to_one +MONDO:0009431 hereditary hypophosphatemic rickets with hypercalciuria http http://identifiers.org/hgnc/20305 disease_has_basis_in_dysfunction_of MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus MESH MESH:C565477 one_to_one MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus MONDO MONDO:0003847 subclass MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus OMIM OMIM:241540 one_to_one @@ -54719,10 +55856,12 @@ MONDO:0009432 hypopituitarism, congenital, with central diabetes insipidus UMLS MONDO:0009433 hypoplastic left heart syndrome 1 MONDO MONDO:0004933 subclass MONDO:0009433 hypoplastic left heart syndrome 1 OMIM OMIM:241550 one_to_one MONDO:0009433 hypoplastic left heart syndrome 1 UMLS UMLS:CN031062 one_to_one +MONDO:0009433 hypoplastic left heart syndrome 1 http http://identifiers.org/hgnc/4274 disease_has_basis_in_dysfunction_of MONDO:0009434 hypoproteinemia, hypercatabolic MESH MESH:C565476 one_to_one MONDO:0009434 hypoproteinemia, hypercatabolic MONDO MONDO:0011476 subclass MONDO:0009434 hypoproteinemia, hypercatabolic OMIM OMIM:241600 one_to_one MONDO:0009434 hypoproteinemia, hypercatabolic UMLS UMLS:C1855796 one_to_one +MONDO:0009434 hypoproteinemia, hypercatabolic http http://identifiers.org/hgnc/914 disease_has_basis_in_dysfunction_of 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 @@ -54745,6 +55884,7 @@ MONDO:0009437 Bamforth-Lazarus syndrome MONDO MONDO:0015335,MONDO:0015778 subcla MONDO:0009437 Bamforth-Lazarus syndrome OMIM OMIM:241850 one_to_one MONDO:0009437 Bamforth-Lazarus syndrome Orphanet Orphanet:1226 one_to_one MONDO:0009437 Bamforth-Lazarus syndrome SCTID SCTID:722375007 one_to_one +MONDO:0009437 Bamforth-Lazarus syndrome http http://identifiers.org/hgnc/3806 disease_has_basis_in_dysfunction_of MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density MESH MESH:C565475 one_to_one MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density MONDO MONDO:0009071 subclass MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density OMIM OMIM:242050 one_to_one @@ -54752,9 +55892,10 @@ MONDO:0009438 hypouricemia, hypercalcinuria, and decreased bone density UMLS UML MONDO:0009439 autosomal recessive congenital ichthyosis 2 DOID DOID:0060710 one_to_one MONDO:0009439 autosomal recessive congenital ichthyosis 2 GARD GARD:0009736 one_to_one MONDO:0009439 autosomal recessive congenital ichthyosis 2 ICD10 ICD10:Q80.2 inexact -MONDO:0009439 autosomal recessive congenital ichthyosis 2 MONDO MONDO:0017267,MONDO:0019306 subclass +MONDO:0009439 autosomal recessive congenital ichthyosis 2 MONDO MONDO:0011680 subclass MONDO:0009439 autosomal recessive congenital ichthyosis 2 NCIT NCIT:C132827 one_to_one MONDO:0009439 autosomal recessive congenital ichthyosis 2 OMIM OMIM:242100 one_to_one +MONDO:0009439 autosomal recessive congenital ichthyosis 2 http http://identifiers.org/hgnc/430 disease_has_basis_in_dysfunction_of MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and deafness GARD GARD:0002946 one_to_one MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and deafness MESH MESH:C537363 one_to_one MONDO:0009440 ichthyosiform erythroderma, corneal involvement, and deafness MONDO MONDO:0018781 subclass @@ -54765,9 +55906,9 @@ MONDO:0009441 autosomal recessive congenital ichthyosis 1 DOID DOID:0060656 one_ MONDO:0009441 autosomal recessive congenital ichthyosis 1 GARD GARD:0003170 one_to_one MONDO:0009441 autosomal recessive congenital ichthyosis 1 ICD10 ICD10:Q80.2 inexact MONDO:0009441 autosomal recessive congenital ichthyosis 1 MONDO MONDO:0017265 subclass -MONDO:0009441 autosomal recessive congenital ichthyosis 1 NCBIGene NCBIGene:7051 disease_has_basis_in_dysfunction_of MONDO:0009441 autosomal recessive congenital ichthyosis 1 OMIM OMIM:242300 one_to_one MONDO:0009441 autosomal recessive congenital ichthyosis 1 UMLS UMLS:C3536797 one_to_one +MONDO:0009441 autosomal recessive congenital ichthyosis 1 http http://identifiers.org/hgnc/11777 disease_has_basis_in_dysfunction_of MONDO:0009442 ichthyosis congenita with biliary atresia GARD GARD:0002948 one_to_one MONDO:0009442 ichthyosis congenita with biliary atresia MESH MESH:C562886 one_to_one MONDO:0009442 ichthyosis congenita with biliary atresia MONDO MONDO:0003847 subclass @@ -54776,7 +55917,7 @@ MONDO:0009442 ichthyosis congenita with biliary atresia SCTID SCTID:235916001 on MONDO:0009443 autosomal recessive congenital ichthyosis 4B DOID DOID:0060713 one_to_one MONDO:0009443 autosomal recessive congenital ichthyosis 4B GARD GARD:0006568 one_to_one MONDO:0009443 autosomal recessive congenital ichthyosis 4B ICD10 ICD10:Q80.4 one_to_one -MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO MONDO:0017265 subclass +MONDO:0009443 autosomal recessive congenital ichthyosis 4B MONDO MONDO:0011026 subclass MONDO:0009443 autosomal recessive congenital ichthyosis 4B MedDRA MedDRA:10019163 one_to_one MONDO:0009443 autosomal recessive congenital ichthyosis 4B NCIT NCIT:C98934 one_to_one MONDO:0009443 autosomal recessive congenital ichthyosis 4B OMIM OMIM:242500 one_to_one @@ -54817,6 +55958,7 @@ MONDO:0009448 iminoglycinuria OMIM OMIM:242600 one_to_one MONDO:0009448 iminoglycinuria Orphanet Orphanet:42062 one_to_one MONDO:0009448 iminoglycinuria SCTID SCTID:84121007 one_to_one MONDO:0009448 iminoglycinuria UMLS UMLS:C0268654 one_to_one +MONDO:0009448 iminoglycinuria http http://identifiers.org/hgnc/18762,http://identifiers.org/hgnc/27960,http://identifiers.org/hgnc/30927 disease_has_basis_in_dysfunction_of MONDO:0009449 ciliary dyskinesia with defective radial spokes GARD GARD:0002981 one_to_one MONDO:0009449 ciliary dyskinesia with defective radial spokes ICD9 ICD9:759.89 inexact MONDO:0009449 ciliary dyskinesia with defective radial spokes MESH MESH:C536286 one_to_one @@ -54849,6 +55991,7 @@ MONDO:0009452 Vici syndrome OMIM OMIM:242840 one_to_one MONDO:0009452 Vici syndrome Orphanet Orphanet:1493 one_to_one MONDO:0009452 Vici syndrome SCTID SCTID:719824001 one_to_one MONDO:0009452 Vici syndrome UMLS UMLS:C1855772 one_to_one +MONDO:0009452 Vici syndrome http http://identifiers.org/hgnc/29331 disease_has_basis_in_dysfunction_of MONDO:0009453 immune deficiency disease MESH MESH:C565469 one_to_one MONDO:0009453 immune deficiency disease MONDO MONDO:0003778,MONDO:0003847 subclass MONDO:0009453 immune deficiency disease OMIM OMIM:242850 one_to_one @@ -54856,8 +55999,8 @@ MONDO:0009453 immune deficiency disease UMLS UMLS:C1855771 one_to_one MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOID DOID:0090008 one_to_one MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 ICD10 ICD10:D84.8 inexact MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO MONDO:0000133 subclass -MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 NCBIGene NCBIGene:1789 disease_has_basis_in_dysfunction_of MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 OMIM OMIM:242860 one_to_one +MONDO:0009454 immunodeficiency-centromeric instability-facial anomalies syndrome 1 http http://identifiers.org/hgnc/2979 disease_has_basis_in_dysfunction_of MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes MESH MESH:C565468 one_to_one MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes MONDO MONDO:0003847 subclass MONDO:0009455 immunodeficiency, partial combined, with absence of HLA Determinants and beta-2-microglobulin from lymphocytes OMIM OMIM:242870 one_to_one @@ -54877,12 +56020,14 @@ MONDO:0009458 Schimke immuno-osseous dysplasia NCIT NCIT:C135087 one_to_one MONDO:0009458 Schimke immuno-osseous dysplasia OMIM OMIM:242900 one_to_one MONDO:0009458 Schimke immuno-osseous dysplasia Orphanet Orphanet:1830 one_to_one MONDO:0009458 Schimke immuno-osseous dysplasia UMLS UMLS:C0877024 one_to_one +MONDO:0009458 Schimke immuno-osseous dysplasia http http://identifiers.org/hgnc/11102 disease_has_basis_in_dysfunction_of MONDO:0009459 channelopathy-associated congenital insensitivity to pain GARD GARD:0012267 one_to_one MONDO:0009459 channelopathy-associated congenital insensitivity to pain ICD10 ICD10:G60.8 inexact MONDO:0009459 channelopathy-associated congenital insensitivity to pain MONDO MONDO:0015366 subclass MONDO:0009459 channelopathy-associated congenital insensitivity to pain OMIM OMIM:243000 one_to_one MONDO:0009459 channelopathy-associated congenital insensitivity to pain Orphanet Orphanet:88642 one_to_one MONDO:0009459 channelopathy-associated congenital insensitivity to pain UMLS UMLS:C1855739 one_to_one +MONDO:0009459 channelopathy-associated congenital insensitivity to pain http http://identifiers.org/hgnc/10597 disease_has_basis_in_dysfunction_of MONDO:0009460 Indolylacroyl Glycinuria with mental retardation MESH MESH:C565466 one_to_one MONDO:0009460 Indolylacroyl Glycinuria with mental retardation MONDO MONDO:0003847 subclass MONDO:0009460 Indolylacroyl Glycinuria with mental retardation OMIM OMIM:243050 one_to_one @@ -54895,6 +56040,7 @@ MONDO:0009461 male infertility due to large-headed multiflagellar polyploid sper MONDO:0009461 male infertility due to large-headed multiflagellar polyploid spermatozoa Orphanet Orphanet:137893 one_to_one MONDO:0009461 male infertility due to large-headed multiflagellar polyploid spermatozoa SCTID SCTID:236806004 one_to_one MONDO:0009461 male infertility due to large-headed multiflagellar polyploid spermatozoa UMLS UMLS:C0403812 one_to_one +MONDO:0009461 male infertility due to large-headed multiflagellar polyploid spermatozoa http http://identifiers.org/hgnc/11391 disease_has_basis_in_dysfunction_of MONDO:0009462 inosine phosphorylase deficiency, immune defect due to MESH MESH:C565465 one_to_one MONDO:0009462 inosine phosphorylase deficiency, immune defect due to MONDO MONDO:0003847 subclass MONDO:0009462 inosine phosphorylase deficiency, immune defect due to OMIM OMIM:243080 one_to_one @@ -54915,6 +56061,7 @@ MONDO:0009465 multiple intestinal atresia MedDRA MedDRA:10028210 one_to_one MONDO:0009465 multiple intestinal atresia OMIM OMIM:243150 one_to_one MONDO:0009465 multiple intestinal atresia Orphanet Orphanet:2300,Orphanet:436252 inexact MONDO:0009465 multiple intestinal atresia SCTID SCTID:95472001 one_to_one +MONDO:0009465 multiple intestinal atresia http http://identifiers.org/hgnc/19750 disease_has_basis_in_dysfunction_of MONDO:0009466 neuronal intestinal pseudoobstruction GARD GARD:0003969 one_to_one MONDO:0009466 neuronal intestinal pseudoobstruction ICD10 ICD10:K59.8 inexact MONDO:0009466 neuronal intestinal pseudoobstruction MESH MESH:C537394 one_to_one @@ -54948,15 +56095,18 @@ MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 ICD10 ICD10:K83.1 MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 MONDO MONDO:0015762,MONDO:0019008 subclass MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 OMIM OMIM:243300 one_to_one MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 Orphanet Orphanet:99960 one_to_one +MONDO:0009469 benign recurrent intrahepatic cholestasis type 1 http http://identifiers.org/hgnc/3706 disease_has_basis_in_dysfunction_of MONDO:0009470 Baraitser-Winter syndrome 1 MONDO MONDO:0017579 subclass MONDO:0009470 Baraitser-Winter syndrome 1 OMIM OMIM:243310 one_to_one MONDO:0009470 Baraitser-Winter syndrome 1 UMLS UMLS:C1837819,UMLS:C1853623 inexact +MONDO:0009470 Baraitser-Winter syndrome 1 http http://identifiers.org/hgnc/132 disease_has_basis_in_dysfunction_of MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of MESH MESH:C565461 one_to_one MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of MONDO MONDO:0009852 subclass MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of OMIM OMIM:243320 one_to_one MONDO:0009471 intrinsic factor and r binder, combined congenital deficiency of UMLS UMLS:C1855721 one_to_one MONDO:0009472 acetylation, slow MONDO MONDO:0003847 subclass MONDO:0009472 acetylation, slow OMIM OMIM:243400 one_to_one +MONDO:0009472 acetylation, slow http http://identifiers.org/hgnc/7646 disease_has_basis_in_dysfunction_of MONDO:0009473 isotretinoin-like syndrome GARD GARD:0009675 one_to_one MONDO:0009473 isotretinoin-like syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009473 isotretinoin-like syndrome MESH MESH:C535542 one_to_one @@ -54976,6 +56126,7 @@ MONDO:0009475 isovaleric acidemia OMIM OMIM:243500 one_to_one MONDO:0009475 isovaleric acidemia Orphanet Orphanet:33 one_to_one MONDO:0009475 isovaleric acidemia SCTID SCTID:87827003 one_to_one MONDO:0009475 isovaleric acidemia UMLS UMLS:C0268575 one_to_one +MONDO:0009475 isovaleric acidemia http http://identifiers.org/hgnc/6186 disease_has_basis_in_dysfunction_of MONDO:0009476 atresia of small intestine GARD GARD:0000140,GARD:0006799 inexact MONDO:0009476 atresia of small intestine ICD10 ICD10:Q41.0,ICD10:Q41.1,ICD10:Q41.2,ICD10:Q41.8,ICD10:Q41.9 inexact MONDO:0009476 atresia of small intestine MESH MESH:C538260 one_to_one @@ -54998,6 +56149,7 @@ MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency NCIT NCIT:C12634 MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency OMIM OMIM:243700 one_to_one MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency Orphanet Orphanet:217390 one_to_one MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency UMLS UMLS:C1968689 one_to_one +MONDO:0009478 combined immunodeficiency due to DOCK8 deficiency http http://identifiers.org/hgnc/19191 disease_has_basis_in_dysfunction_of MONDO:0009479 Johanson-Blizzard syndrome DOID DOID:14694 one_to_one MONDO:0009479 Johanson-Blizzard syndrome EFO EFO:0001063 one_to_one MONDO:0009479 Johanson-Blizzard syndrome GARD GARD:0000080 one_to_one @@ -55009,6 +56161,7 @@ MONDO:0009479 Johanson-Blizzard syndrome OMIM OMIM:243800 one_to_one MONDO:0009479 Johanson-Blizzard syndrome Orphanet Orphanet:2315 one_to_one MONDO:0009479 Johanson-Blizzard syndrome SCTID SCTID:75979009 one_to_one MONDO:0009479 Johanson-Blizzard syndrome UMLS UMLS:C0175692 one_to_one +MONDO:0009479 Johanson-Blizzard syndrome http http://identifiers.org/hgnc/16808 disease_has_basis_in_dysfunction_of 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 @@ -55024,9 +56177,9 @@ MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia DOID DOID: MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia GARD GARD:0003073 one_to_one MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia ICD10 ICD10:E23.0 inexact MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia MONDO MONDO:0018555,MONDO:0018800 subclass -MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia NCBIGene NCBIGene:128674 disease_has_basis_in_dysfunction_of MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia OMIM OMIM:244200 one_to_one MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia UMLS UMLS:C3550478 one_to_one +MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia http http://identifiers.org/hgnc/15836 disease_has_basis_in_dysfunction_of 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 @@ -55038,8 +56191,8 @@ MONDO:0009483 kapur-Toriello syndrome UMLS UMLS:C0796005 one_to_one MONDO:0009484 primary ciliary dyskinesia 1 DOID DOID:0110594 one_to_one MONDO:0009484 primary ciliary dyskinesia 1 ICD10 ICD10:Q34.8 inexact MONDO:0009484 primary ciliary dyskinesia 1 MONDO MONDO:0016575 subclass -MONDO:0009484 primary ciliary dyskinesia 1 NCBIGene NCBIGene:27019 disease_has_basis_in_dysfunction_of MONDO:0009484 primary ciliary dyskinesia 1 OMIM OMIM:244400 one_to_one +MONDO:0009484 primary ciliary dyskinesia 1 http http://identifiers.org/hgnc/2954 disease_has_basis_in_dysfunction_of MONDO:0009485 oculocerebrofacial syndrome, Kaufman type GARD GARD:0003084 one_to_one MONDO:0009485 oculocerebrofacial syndrome, Kaufman type ICD10 ICD10:Q87.0 inexact MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MESH MESH:C537013 one_to_one @@ -55048,6 +56201,7 @@ MONDO:0009485 oculocerebrofacial syndrome, Kaufman type OMIM OMIM:244450 one_to_ MONDO:0009485 oculocerebrofacial syndrome, Kaufman type Orphanet Orphanet:2707 one_to_one MONDO:0009485 oculocerebrofacial syndrome, Kaufman type SCTID SCTID:722056009 one_to_one MONDO:0009485 oculocerebrofacial syndrome, Kaufman type UMLS UMLS:C1855663 one_to_one +MONDO:0009485 oculocerebrofacial syndrome, Kaufman type http http://identifiers.org/hgnc/13478 disease_has_basis_in_dysfunction_of MONDO:0009486 autosomal recessive Kenny-Caffey syndrome GARD GARD:0008367 one_to_one MONDO:0009486 autosomal recessive Kenny-Caffey syndrome HP HP:0000007 has_modifier MONDO:0009486 autosomal recessive Kenny-Caffey syndrome ICD10 ICD10:Q87.1 inexact @@ -55057,6 +56211,7 @@ MONDO:0009486 autosomal recessive Kenny-Caffey syndrome NCIT NCIT:C130992 one_to MONDO:0009486 autosomal recessive Kenny-Caffey syndrome OMIM OMIM:244460 one_to_one MONDO:0009486 autosomal recessive Kenny-Caffey syndrome Orphanet Orphanet:93324 one_to_one MONDO:0009486 autosomal recessive Kenny-Caffey syndrome UMLS UMLS:C1855648 one_to_one +MONDO:0009486 autosomal recessive Kenny-Caffey syndrome http http://identifiers.org/hgnc/11582 disease_has_basis_in_dysfunction_of MONDO:0009487 keratoconus and congenital hip dysplasia MESH MESH:C565456 one_to_one MONDO:0009487 keratoconus and congenital hip dysplasia MONDO MONDO:0003847 subclass MONDO:0009487 keratoconus and congenital hip dysplasia OMIM OMIM:244510 one_to_one @@ -55082,6 +56237,7 @@ MONDO:0009490 Papillon-Lefevre disease OMIM OMIM:245000 one_to_one MONDO:0009490 Papillon-Lefevre disease Orphanet Orphanet:678 one_to_one MONDO:0009490 Papillon-Lefevre disease SCTID SCTID:40158001 one_to_one MONDO:0009490 Papillon-Lefevre disease UMLS UMLS:C0030360 one_to_one +MONDO:0009490 Papillon-Lefevre disease http http://identifiers.org/hgnc/2528 disease_has_basis_in_dysfunction_of MONDO:0009491 Haim-Munk syndrome GARD GARD:0000044 one_to_one MONDO:0009491 Haim-Munk syndrome ICD10 ICD10:Q82.8 inexact MONDO:0009491 Haim-Munk syndrome MESH MESH:C537627 one_to_one @@ -55090,6 +56246,7 @@ MONDO:0009491 Haim-Munk syndrome OMIM OMIM:245010 one_to_one MONDO:0009491 Haim-Munk syndrome Orphanet Orphanet:2342 one_to_one MONDO:0009491 Haim-Munk syndrome SCTID SCTID:719973009 one_to_one MONDO:0009491 Haim-Munk syndrome UMLS UMLS:C1855627 one_to_one +MONDO:0009491 Haim-Munk syndrome http http://identifiers.org/hgnc/2528 disease_has_basis_in_dysfunction_of MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency GARD GARD:0004774 one_to_one MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency ICD10 ICD10:E71.3 inexact MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency ICD9 ICD9:270.8 inexact @@ -55098,6 +56255,7 @@ MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO MONDO:001 MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency OMIM OMIM:245050 one_to_one MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency Orphanet Orphanet:832 one_to_one MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency SCTID SCTID:238004006 one_to_one +MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency http http://identifiers.org/hgnc/8527 disease_has_basis_in_dysfunction_of MONDO:0009493 Richards-Rundle syndrome GARD GARD:0008423 one_to_one MONDO:0009493 Richards-Rundle syndrome ICD10 ICD10:G60.2 inexact MONDO:0009493 Richards-Rundle syndrome MESH MESH:C535674 one_to_one @@ -55117,6 +56275,7 @@ MONDO:0009495 Keutel syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019066,MO 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 +MONDO:0009495 Keutel syndrome http http://identifiers.org/hgnc/7060 disease_has_basis_in_dysfunction_of MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis GARD GARD:0010512 one_to_one MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis MONDO MONDO:0003847 subclass MONDO:0009496 Kniest-like dysplasia with pursed lips and ectopia lentis OMIM OMIM:245160 one_to_one @@ -55133,44 +56292,52 @@ MONDO:0009498 lethal Kniest-like dysplasia MONDO MONDO:0019718 subclass MONDO:0009498 lethal Kniest-like dysplasia OMIM OMIM:245190 one_to_one MONDO:0009498 lethal Kniest-like dysplasia Orphanet Orphanet:2347 one_to_one MONDO:0009498 lethal Kniest-like dysplasia UMLS UMLS:C1855605 one_to_one +MONDO:0009499 Krabbe disease CHEBI CHEBI:16874 disease_has_basis_in_accumulation_of MONDO:0009499 Krabbe disease DOID DOID:10587 one_to_one 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:0015123,MONDO:0015955,MONDO:0016133,MONDO:0018299,MONDO:0019046,MONDO:0019058,MONDO:0019255,MONDO:0020244,MONDO:0024237 subclass +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 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 MONDO:0009499 Krabbe disease Orphanet Orphanet:487 one_to_one MONDO:0009499 Krabbe disease UMLS UMLS:C0023521 one_to_one +MONDO:0009499 Krabbe disease http http://identifiers.org/hgnc/4115 disease_has_basis_in_dysfunction_of MONDO:0009500 kuru, susceptibility to MONDO MONDO:0006825 subclass MONDO:0009500 kuru, susceptibility to OMIM OMIM:245300 one_to_one MONDO:0009500 kuru, susceptibility to UMLS UMLS:C1855588 one_to_one +MONDO:0009500 kuru, susceptibility to http http://identifiers.org/hgnc/9449 disease_has_basis_in_dysfunction_of MONDO:0009501 metabolic myopathy due to lactate transporter defect ICD10 ICD10:G72.8 one_to_one MONDO:0009501 metabolic myopathy due to lactate transporter defect MESH MESH:C565449 one_to_one MONDO:0009501 metabolic myopathy due to lactate transporter defect MONDO MONDO:0020123 subclass MONDO:0009501 metabolic myopathy due to lactate transporter defect OMIM OMIM:245340 one_to_one MONDO:0009501 metabolic myopathy due to lactate transporter defect Orphanet Orphanet:171690 one_to_one MONDO:0009501 metabolic myopathy due to lactate transporter defect UMLS UMLS:C1855577 one_to_one +MONDO:0009501 metabolic myopathy due to lactate transporter defect http http://identifiers.org/hgnc/10922 disease_has_basis_in_dysfunction_of MONDO:0009502 pyruvate dehydrogenase E2 deficiency ICD10 ICD10:E74.4 inexact MONDO:0009502 pyruvate dehydrogenase E2 deficiency MESH MESH:C565448 one_to_one MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO MONDO:0019169 subclass MONDO:0009502 pyruvate dehydrogenase E2 deficiency OMIM OMIM:245348 one_to_one MONDO:0009502 pyruvate dehydrogenase E2 deficiency Orphanet Orphanet:79244 one_to_one MONDO:0009502 pyruvate dehydrogenase E2 deficiency UMLS UMLS:C1855565 one_to_one +MONDO:0009502 pyruvate dehydrogenase E2 deficiency http http://identifiers.org/hgnc/2896 disease_has_basis_in_dysfunction_of MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency ICD10 ICD10:E74.4 inexact MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO MONDO:0019169 subclass MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency OMIM OMIM:245349 one_to_one MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency Orphanet Orphanet:255182 one_to_one MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency UMLS UMLS:C1855553 one_to_one +MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency http http://identifiers.org/hgnc/21350 disease_has_basis_in_dysfunction_of MONDO:0009504 mitochondrial DNA depletion syndrome 9 DOID DOID:0080128 one_to_one MONDO:0009504 mitochondrial DNA depletion syndrome 9 GARD GARD:0003163 one_to_one MONDO:0009504 mitochondrial DNA depletion syndrome 9 ICD10 ICD10:E71.1 inexact MONDO:0009504 mitochondrial DNA depletion syndrome 9 MESH MESH:C538134,MESH:C566885 inexact -MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO MONDO:0006040,MONDO:0016796 subclass +MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO MONDO:0006040,MONDO:0016796,MONDO:0018158 subclass MONDO:0009504 mitochondrial DNA depletion syndrome 9 OMIM OMIM:245400 one_to_one MONDO:0009504 mitochondrial DNA depletion syndrome 9 Orphanet Orphanet:17 one_to_one MONDO:0009504 mitochondrial DNA depletion syndrome 9 SCTID SCTID:715338007 one_to_one +MONDO:0009504 mitochondrial DNA depletion syndrome 9 http http://identifiers.org/hgnc/11449 disease_has_basis_in_dysfunction_of MONDO:0009505 lactic aciduria due to D-lactic acid MESH MESH:C565446 one_to_one MONDO:0009505 lactic aciduria due to D-lactic acid MONDO MONDO:0003847 subclass MONDO:0009505 lactic aciduria due to D-lactic acid OMIM OMIM:245450 one_to_one @@ -55207,17 +56374,20 @@ MONDO:0009509 Landau-Kleffner syndrome OMIM OMIM:245570 one_to_one MONDO:0009509 Landau-Kleffner syndrome Orphanet Orphanet:98818 one_to_one MONDO:0009509 Landau-Kleffner syndrome SCTID SCTID:230438007 one_to_one MONDO:0009509 Landau-Kleffner syndrome UMLS UMLS:C0282512 one_to_one +MONDO:0009509 Landau-Kleffner syndrome http http://identifiers.org/hgnc/4585 disease_has_basis_in_dysfunction_of MONDO:0009510 Laron syndrome with immunodeficiency ICD10 ICD10:D82.8,ICD10:E34.3 inexact MONDO:0009510 Laron syndrome with immunodeficiency MESH MESH:C537871 one_to_one MONDO:0009510 Laron syndrome with immunodeficiency MONDO MONDO:0015892,MONDO:0018035 subclass MONDO:0009510 Laron syndrome with immunodeficiency OMIM OMIM:245590 one_to_one MONDO:0009510 Laron syndrome with immunodeficiency Orphanet Orphanet:220465 one_to_one MONDO:0009510 Laron syndrome with immunodeficiency UMLS UMLS:C1855548,UMLS:C4510411 inexact +MONDO:0009510 Laron syndrome with immunodeficiency http http://identifiers.org/hgnc/11367 disease_has_basis_in_dysfunction_of MONDO:0009511 Larsen-like syndrome, B3GAT3 type ICD10 ICD10:Q74.8 inexact MONDO:0009511 Larsen-like syndrome, B3GAT3 type MESH MESH:C537874 one_to_one MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO MONDO:0015332,MONDO:0017742,MONDO:0018290,MONDO:0018292,MONDO:0019700 subclass MONDO:0009511 Larsen-like syndrome, B3GAT3 type OMIM OMIM:245600 one_to_one MONDO:0009511 Larsen-like syndrome, B3GAT3 type Orphanet Orphanet:284139 one_to_one +MONDO:0009511 Larsen-like syndrome, B3GAT3 type http http://identifiers.org/hgnc/1971,http://identifiers.org/hgnc/923 disease_has_basis_in_dysfunction_of MONDO:0009512 lethal Larsen-like syndrome GARD GARD:0003181 one_to_one MONDO:0009512 lethal Larsen-like syndrome ICD10 ICD10:Q74.8 inexact MONDO:0009512 lethal Larsen-like syndrome MESH MESH:C537872 one_to_one @@ -55235,6 +56405,7 @@ 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 MONDO:0009513 laryngo-onycho-cutaneous syndrome UMLS UMLS:C1328355 one_to_one +MONDO:0009513 laryngo-onycho-cutaneous syndrome http http://identifiers.org/hgnc/6483 disease_has_basis_in_dysfunction_of MONDO:0009514 Laurence-Moon syndrome DOID DOID:1930 one_to_one MONDO:0009514 Laurence-Moon syndrome GARD GARD:0012635 one_to_one MONDO:0009514 Laurence-Moon syndrome ICD10 ICD10:Q87.8 inexact @@ -55247,6 +56418,7 @@ MONDO:0009514 Laurence-Moon syndrome OMIM OMIM:245800 one_to_one MONDO:0009514 Laurence-Moon syndrome Orphanet Orphanet:2377 one_to_one MONDO:0009514 Laurence-Moon syndrome SCTID SCTID:232059000 one_to_one MONDO:0009514 Laurence-Moon syndrome UMLS UMLS:C0023138 one_to_one +MONDO:0009514 Laurence-Moon syndrome http http://identifiers.org/hgnc/16268 disease_has_basis_in_dysfunction_of MONDO:0009515 Norum disease DOID DOID:1391 one_to_one MONDO:0009515 Norum disease GARD GARD:0004011 one_to_one MONDO:0009515 Norum disease ICD10 ICD10:E78.6 inexact @@ -55255,11 +56427,13 @@ MONDO:0009515 Norum disease NCIT NCIT:C84813 one_to_one MONDO:0009515 Norum disease OMIM OMIM:245900 one_to_one MONDO:0009515 Norum disease Orphanet Orphanet:79293 one_to_one MONDO:0009515 Norum disease SCTID SCTID:238091006 one_to_one +MONDO:0009515 Norum disease http http://identifiers.org/hgnc/6522 disease_has_basis_in_dysfunction_of MONDO:0009516 absence deformity of leg-cataract syndrome MESH MESH:C565442 one_to_one MONDO:0009516 absence deformity of leg-cataract syndrome MONDO MONDO:0017432,MONDO:0018455 subclass MONDO:0009516 absence deformity of leg-cataract syndrome OMIM OMIM:246000 one_to_one MONDO:0009516 absence deformity of leg-cataract syndrome Orphanet Orphanet:2310 one_to_one MONDO:0009516 absence deformity of leg-cataract syndrome UMLS UMLS:C1855523 one_to_one +MONDO:0009516 absence deformity of leg-cataract syndrome http http://identifiers.org/hgnc/28557 disease_has_basis_in_dysfunction_of MONDO:0009517 Donohue syndrome DOID DOID:0050470 one_to_one MONDO:0009517 Donohue syndrome GARD GARD:0006885 one_to_one MONDO:0009517 Donohue syndrome ICD10 ICD10:E34.8 inexact @@ -55271,8 +56445,10 @@ MONDO:0009517 Donohue syndrome OMIM OMIM:246200 one_to_one MONDO:0009517 Donohue syndrome Orphanet Orphanet:508 one_to_one MONDO:0009517 Donohue syndrome SCTID SCTID:111307005 one_to_one MONDO:0009517 Donohue syndrome UMLS UMLS:C0265344 one_to_one +MONDO:0009517 Donohue syndrome http http://identifiers.org/hgnc/6091 disease_has_basis_in_dysfunction_of MONDO:0009518 leprosy, susceptibility to, 3 MONDO MONDO:0005124 subclass MONDO:0009518 leprosy, susceptibility to, 3 OMIM OMIM:246300 one_to_one +MONDO:0009518 leprosy, susceptibility to, 3 http http://identifiers.org/hgnc/11848 disease_has_basis_in_dysfunction_of MONDO:0009519 letterer-Siwe disease ICD10 ICD10:C96.0 inexact MONDO:0009519 letterer-Siwe disease ICDO ICDO:9754/3 inexact MONDO:0009519 letterer-Siwe disease MONDO MONDO:0017025 subclass @@ -55291,6 +56467,7 @@ MONDO:0009520 3-hydroxy-3-methylglutaric aciduria OMIM OMIM:246450 one_to_one MONDO:0009520 3-hydroxy-3-methylglutaric aciduria Orphanet Orphanet:20 one_to_one MONDO:0009520 3-hydroxy-3-methylglutaric aciduria SCTID SCTID:410059004 one_to_one MONDO:0009520 3-hydroxy-3-methylglutaric aciduria UMLS UMLS:C0268601,UMLS:C1533587 inexact +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria http http://identifiers.org/hgnc/5005 disease_has_basis_in_dysfunction_of MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer MESH MESH:C565441 one_to_one MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer MONDO MONDO:0003847 subclass MONDO:0009521 leukemia, acute myelocytic, with polyposis coli and colon cancer OMIM OMIM:246470 one_to_one @@ -55333,6 +56510,7 @@ MONDO:0009527 lipase deficiency, combined MONDO MONDO:0003847 subclass MONDO:0009527 lipase deficiency, combined NCIT NCIT:C126558 one_to_one MONDO:0009527 lipase deficiency, combined OMIM OMIM:246650 one_to_one MONDO:0009527 lipase deficiency, combined UMLS UMLS:C1855498 one_to_one +MONDO:0009527 lipase deficiency, combined http http://identifiers.org/hgnc/14154 disease_has_basis_in_dysfunction_of MONDO:0009528 chylomicron retention disease DOID DOID:0060357 one_to_one MONDO:0009528 chylomicron retention disease GARD GARD:0009683 one_to_one MONDO:0009528 chylomicron retention disease ICD10 ICD10:E78.3,ICD10:E78.6 inexact @@ -55342,6 +56520,7 @@ MONDO:0009528 chylomicron retention disease OMIM OMIM:246700 one_to_one MONDO:0009528 chylomicron retention disease Orphanet Orphanet:71 one_to_one MONDO:0009528 chylomicron retention disease SCTID SCTID:702364003 one_to_one MONDO:0009528 chylomicron retention disease UMLS UMLS:C0795956 one_to_one +MONDO:0009528 chylomicron retention disease http http://identifiers.org/hgnc/10535 disease_has_basis_in_dysfunction_of MONDO:0009529 pyruvate dehydrogenase E3 deficiency GARD GARD:0003263 one_to_one MONDO:0009529 pyruvate dehydrogenase E3 deficiency ICD10 ICD10:E74.4 inexact MONDO:0009529 pyruvate dehydrogenase E3 deficiency MONDO MONDO:0009563,MONDO:0009637,MONDO:0015905,MONDO:0018424,MONDO:0019169,MONDO:0019213 subclass @@ -55349,6 +56528,7 @@ MONDO:0009529 pyruvate dehydrogenase E3 deficiency OMIM OMIM:246900 one_to_one MONDO:0009529 pyruvate dehydrogenase E3 deficiency Orphanet Orphanet:2394 one_to_one MONDO:0009529 pyruvate dehydrogenase E3 deficiency SCTID SCTID:29914000 one_to_one MONDO:0009529 pyruvate dehydrogenase E3 deficiency UMLS UMLS:C0268193,UMLS:CN043137 inexact +MONDO:0009529 pyruvate dehydrogenase E3 deficiency http http://identifiers.org/hgnc/2898 disease_has_basis_in_dysfunction_of MONDO:0009530 lipoid proteinosis DOID DOID:14498 one_to_one MONDO:0009530 lipoid proteinosis GARD GARD:0003268 one_to_one MONDO:0009530 lipoid proteinosis ICD10 ICD10:E78.8 inexact @@ -55360,6 +56540,7 @@ MONDO:0009530 lipoid proteinosis OMIM OMIM:247100 one_to_one MONDO:0009530 lipoid proteinosis Orphanet Orphanet:530 one_to_one MONDO:0009530 lipoid proteinosis SCTID SCTID:38692000 one_to_one MONDO:0009530 lipoid proteinosis UMLS UMLS:C0023795 one_to_one +MONDO:0009530 lipoid proteinosis http http://identifiers.org/hgnc/3153 disease_has_basis_in_dysfunction_of MONDO:0009531 lip prints MONDO MONDO:0003847 subclass MONDO:0009531 lip prints OMIM OMIM:247150 one_to_one MONDO:0009532 Miller-Dieker lissencephaly syndrome DOID DOID:0060469 one_to_one @@ -55458,17 +56639,20 @@ MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MESH MESH:C536148 o 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 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 MONDO:0009549 severe early-childhood-onset retinal dystrophy ICD10 ICD10:H35.5 inexact MONDO:0009549 severe early-childhood-onset retinal dystrophy MONDO MONDO:0019353 subclass MONDO:0009549 severe early-childhood-onset retinal dystrophy OMIM OMIM:248200 one_to_one MONDO:0009549 severe early-childhood-onset retinal dystrophy Orphanet Orphanet:364055 one_to_one MONDO:0009549 severe early-childhood-onset retinal dystrophy SCTID SCTID:716663009 one_to_one +MONDO:0009549 severe early-childhood-onset retinal dystrophy http http://identifiers.org/hgnc/2153,http://identifiers.org/hgnc/34 disease_has_basis_in_dysfunction_of MONDO:0009550 renal hypomagnesemia 3 DOID DOID:0060880 one_to_one MONDO:0009550 renal hypomagnesemia 3 ICD10 ICD10:E83.4 inexact MONDO:0009550 renal hypomagnesemia 3 MESH MESH:C537153 one_to_one -MONDO:0009550 renal hypomagnesemia 3 MONDO MONDO:0001567,MONDO:0006510,MONDO:0017624 subclass +MONDO:0009550 renal hypomagnesemia 3 MONDO MONDO:0001567,MONDO:0006510,MONDO:0017624,MONDO:0018100 subclass MONDO:0009550 renal hypomagnesemia 3 OMIM OMIM:248250 one_to_one MONDO:0009550 renal hypomagnesemia 3 Orphanet Orphanet:31043 one_to_one +MONDO:0009550 renal hypomagnesemia 3 http http://identifiers.org/hgnc/2037 disease_has_basis_in_dysfunction_of MONDO:0009551 magnesium, elevated red cell MONDO MONDO:0003847 subclass MONDO:0009551 magnesium, elevated red cell OMIM OMIM:248260 one_to_one MONDO:0009552 mal de Meleda DOID DOID:0060862 one_to_one @@ -55480,14 +56664,15 @@ MONDO:0009552 mal de Meleda OMIM OMIM:248300 one_to_one MONDO:0009552 mal de Meleda Orphanet Orphanet:87503 one_to_one MONDO:0009552 mal de Meleda SCTID SCTID:239069005 one_to_one MONDO:0009552 mal de Meleda UMLS UMLS:C0025221 one_to_one +MONDO:0009552 mal de Meleda http http://identifiers.org/hgnc/18746 disease_has_basis_in_dysfunction_of MONDO:0009553 Plasmodium falciparum blood infection level MONDO MONDO:0005136 subclass MONDO:0009553 Plasmodium falciparum blood infection level OMIM OMIM:248310 one_to_one MONDO:0009554 3MC syndrome 3 DOID DOID:0060577 one_to_one MONDO:0009554 3MC syndrome 3 MESH MESH:C535704 one_to_one MONDO:0009554 3MC syndrome 3 MONDO MONDO:0017398 subclass -MONDO:0009554 3MC syndrome 3 NCBIGene NCBIGene:10584 disease_has_basis_in_dysfunction_of MONDO:0009554 3MC syndrome 3 OMIM OMIM:248340 one_to_one MONDO:0009554 3MC syndrome 3 UMLS UMLS:C0796032 one_to_one +MONDO:0009554 3MC syndrome 3 http http://identifiers.org/hgnc/2220 disease_has_basis_in_dysfunction_of MONDO:0009555 malocclusion and short stature MESH MESH:C565421 one_to_one MONDO:0009555 malocclusion and short stature MONDO MONDO:0003847 subclass MONDO:0009555 malocclusion and short stature OMIM OMIM:248350 one_to_one @@ -55500,6 +56685,7 @@ MONDO:0009556 malonic aciduria OMIM OMIM:248360 one_to_one MONDO:0009556 malonic aciduria Orphanet Orphanet:943 one_to_one MONDO:0009556 malonic aciduria SCTID SCTID:361203007 one_to_one MONDO:0009556 malonic aciduria UMLS UMLS:C0342793 one_to_one +MONDO:0009556 malonic aciduria http http://identifiers.org/hgnc/7150 disease_has_basis_in_dysfunction_of MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy GARD GARD:0003374 one_to_one MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy ICD10 ICD10:Q87.5 inexact MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy MESH MESH:C535705 one_to_one @@ -55508,10 +56694,12 @@ MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy NCIT NCIT:C1234 MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy OMIM OMIM:248370 one_to_one MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy Orphanet Orphanet:90153 one_to_one MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy SCTID SCTID:109419009 one_to_one +MONDO:0009557 mandibuloacral dysplasia with type A lipodystrophy http http://identifiers.org/hgnc/6636 disease_has_basis_in_dysfunction_of MONDO:0009558 Treacher Collins syndrome 3 GARD GARD:0009125 one_to_one MONDO:0009558 Treacher Collins syndrome 3 MESH MESH:C535707 one_to_one MONDO:0009558 Treacher Collins syndrome 3 MONDO MONDO:0002457 subclass MONDO:0009558 Treacher Collins syndrome 3 OMIM OMIM:248390 one_to_one +MONDO:0009558 Treacher Collins syndrome 3 http http://identifiers.org/hgnc/20194 disease_has_basis_in_dysfunction_of MONDO:0009559 mandibulofacial dysostosis with mental deficiency MESH MESH:C565420 one_to_one MONDO:0009559 mandibulofacial dysostosis with mental deficiency MONDO MONDO:0003847 subclass MONDO:0009559 mandibulofacial dysostosis with mental deficiency OMIM OMIM:248400 one_to_one @@ -55525,6 +56713,7 @@ MONDO:0009560 oculotrichoanal syndrome OMIM OMIM:248450 one_to_one MONDO:0009560 oculotrichoanal syndrome Orphanet Orphanet:2717 one_to_one MONDO:0009560 oculotrichoanal syndrome SCTID SCTID:703539006 one_to_one MONDO:0009560 oculotrichoanal syndrome UMLS UMLS:C1855425 one_to_one +MONDO:0009560 oculotrichoanal syndrome http http://identifiers.org/hgnc/23399 disease_has_basis_in_dysfunction_of MONDO:0009561 alpha-mannosidosis DOID DOID:3413 one_to_one MONDO:0009561 alpha-mannosidosis GARD GARD:0006968 one_to_one MONDO:0009561 alpha-mannosidosis ICD10 ICD10:E77.1 inexact @@ -55536,17 +56725,19 @@ MONDO:0009561 alpha-mannosidosis OMIM OMIM:248500 one_to_one MONDO:0009561 alpha-mannosidosis Orphanet Orphanet:61 one_to_one MONDO:0009561 alpha-mannosidosis SCTID SCTID:124466001 one_to_one MONDO:0009561 alpha-mannosidosis UMLS UMLS:C0024748 one_to_one +MONDO:0009561 alpha-mannosidosis http http://identifiers.org/hgnc/6826 disease_has_basis_in_dysfunction_of MONDO:0009562 beta-mannosidosis DOID DOID:3633 one_to_one 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,MONDO:0024573 subclass +MONDO:0009562 beta-mannosidosis MONDO 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 MONDO:0009562 beta-mannosidosis SCTID SCTID:238047006 one_to_one MONDO:0009562 beta-mannosidosis UMLS UMLS:C4048196 one_to_one +MONDO:0009562 beta-mannosidosis http http://identifiers.org/hgnc/6831 disease_has_basis_in_dysfunction_of MONDO:0009563 maple syrup urine disease DOID DOID:9269 one_to_one MONDO:0009563 maple syrup urine disease GARD GARD:0003228 one_to_one MONDO:0009563 maple syrup urine disease HP HP:0001250,HP:0001276,HP:0010864 disease_has_feature @@ -55560,6 +56751,7 @@ MONDO:0009563 maple syrup urine disease OMIMPS OMIMPS:248600 one_to_one MONDO:0009563 maple syrup urine disease Orphanet Orphanet:511 one_to_one MONDO:0009563 maple syrup urine disease SCTID SCTID:27718001 one_to_one MONDO:0009563 maple syrup urine disease UMLS UMLS:C0024776 one_to_one +MONDO:0009563 maple syrup urine disease http http://identifiers.org/hgnc/2698,http://identifiers.org/hgnc/986,http://identifiers.org/hgnc/987 disease_has_basis_in_dysfunction_of 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 @@ -55568,6 +56760,7 @@ MONDO:0009564 Marden-Walker syndrome MONDO MONDO:0005308,MONDO:0015159,MONDO:001 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 +MONDO:0009564 Marden-Walker syndrome http http://identifiers.org/hgnc/26270 disease_has_basis_in_dysfunction_of 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 @@ -55591,6 +56784,7 @@ MONDO:0009567 Marinesco-Sjogren syndrome OMIM OMIM:248800 one_to_one MONDO:0009567 Marinesco-Sjogren syndrome Orphanet Orphanet:559 one_to_one MONDO:0009567 Marinesco-Sjogren syndrome SCTID SCTID:80734006 one_to_one MONDO:0009567 Marinesco-Sjogren syndrome UMLS UMLS:C0024814 one_to_one +MONDO:0009567 Marinesco-Sjogren syndrome http http://identifiers.org/hgnc/24624 disease_has_basis_in_dysfunction_of MONDO:0009568 mast syndrome DOID DOID:0060245 one_to_one MONDO:0009568 mast syndrome ICD10 ICD10:G11.4 inexact MONDO:0009568 mast syndrome MESH MESH:C565409 one_to_one @@ -55598,6 +56792,7 @@ MONDO:0009568 mast syndrome MONDO MONDO:0017915 subclass MONDO:0009568 mast syndrome OMIM OMIM:248900 one_to_one MONDO:0009568 mast syndrome Orphanet Orphanet:101001 one_to_one MONDO:0009568 mast syndrome UMLS UMLS:C1855346 one_to_one +MONDO:0009568 mast syndrome http http://identifiers.org/hgnc/20373 disease_has_basis_in_dysfunction_of MONDO:0009569 Hennekam-Beemer syndrome GARD GARD:0003409 one_to_one MONDO:0009569 Hennekam-Beemer syndrome ICD10 ICD10:Q82.2 inexact MONDO:0009569 Hennekam-Beemer syndrome MESH MESH:C536033 one_to_one @@ -55617,12 +56812,13 @@ MONDO:0009571 Meckel syndrome, type 1 DOID DOID:0070115 one_to_one MONDO:0009571 Meckel syndrome, type 1 ICD10 ICD10:Q61.9 inexact MONDO:0009571 Meckel syndrome, type 1 MESH MESH:C536133 one_to_one MONDO:0009571 Meckel syndrome, type 1 MONDO MONDO:0018921 subclass -MONDO:0009571 Meckel syndrome, type 1 NCBIGene NCBIGene:54903 disease_has_basis_in_dysfunction_of MONDO:0009571 Meckel syndrome, type 1 OMIM OMIM:249000 one_to_one MONDO:0009571 Meckel syndrome, type 1 UMLS UMLS:C3714506 one_to_one +MONDO:0009571 Meckel syndrome, type 1 http http://identifiers.org/hgnc/7121 disease_has_basis_in_dysfunction_of MONDO:0009572 autosomal recessive familial Mediterranean fever HP HP:0000007 has_modifier MONDO:0009572 autosomal recessive familial Mediterranean fever MONDO MONDO:0006025,MONDO:0018088 subclass MONDO:0009572 autosomal recessive familial Mediterranean fever OMIM OMIM:249100 one_to_one +MONDO:0009572 autosomal recessive familial Mediterranean fever http http://identifiers.org/hgnc/6998 disease_has_basis_in_dysfunction_of MONDO:0009573 megaepiphyseal dwarfism GARD GARD:0003444 one_to_one MONDO:0009573 megaepiphyseal dwarfism MONDO MONDO:0003847 subclass MONDO:0009573 megaepiphyseal dwarfism OMIM OMIM:249230 one_to_one @@ -55638,6 +56834,7 @@ MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO MONDO:0000 MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome OMIM OMIM:249270 one_to_one MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome Orphanet Orphanet:49827 one_to_one MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome SCTID SCTID:237617006 one_to_one +MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome http http://identifiers.org/hgnc/10938 disease_has_basis_in_dysfunction_of 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 @@ -55657,6 +56854,7 @@ 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 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 MONDO:0009579 Frank-Ter Haar syndrome GARD GARD:0005138 one_to_one MONDO:0009579 Frank-Ter Haar syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009579 Frank-Ter Haar syndrome MESH MESH:C537274 one_to_one @@ -55665,10 +56863,12 @@ MONDO:0009579 Frank-Ter Haar syndrome OMIM OMIM:249420 one_to_one MONDO:0009579 Frank-Ter Haar syndrome Orphanet Orphanet:137834 one_to_one MONDO:0009579 Frank-Ter Haar syndrome SCTID SCTID:720958002 one_to_one MONDO:0009579 Frank-Ter Haar syndrome UMLS UMLS:C1855305 one_to_one +MONDO:0009579 Frank-Ter Haar syndrome http http://identifiers.org/hgnc/29242 disease_has_basis_in_dysfunction_of MONDO:0009580 intellectual disability, autosomal recessive 1 MESH MESH:C565406 one_to_one MONDO:0009580 intellectual disability, autosomal recessive 1 MONDO MONDO:0019502 subclass MONDO:0009580 intellectual disability, autosomal recessive 1 OMIM OMIM:249500 one_to_one MONDO:0009580 intellectual disability, autosomal recessive 1 UMLS UMLS:C1855304 one_to_one +MONDO:0009580 intellectual disability, autosomal recessive 1 http http://identifiers.org/hgnc/9477 disease_has_basis_in_dysfunction_of 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 @@ -55737,12 +56937,14 @@ MONDO:0009590 metachromatic leukodystrophy due to saposin b deficiency MONDO MON MONDO:0009590 metachromatic leukodystrophy due to saposin b deficiency OMIM OMIM:249900 one_to_one MONDO:0009590 metachromatic leukodystrophy due to saposin b deficiency SCTID SCTID:68390005 one_to_one MONDO:0009590 metachromatic leukodystrophy due to saposin b deficiency UMLS UMLS:C0268262 one_to_one +MONDO:0009590 metachromatic leukodystrophy due to saposin b deficiency http http://identifiers.org/hgnc/9498 disease_has_basis_in_dysfunction_of MONDO:0009591 metachromatic leukodystrophy, juvenile form GARD GARD:0003230,GARD:0004545 inexact MONDO:0009591 metachromatic leukodystrophy, juvenile form ICD10 ICD10:E75.2 inexact MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO MONDO:0018868 subclass MONDO:0009591 metachromatic leukodystrophy, juvenile form OMIM OMIM:250100 one_to_one MONDO:0009591 metachromatic leukodystrophy, juvenile form Orphanet Orphanet:309263 one_to_one MONDO:0009591 metachromatic leukodystrophy, juvenile form SCTID SCTID:238031009 one_to_one +MONDO:0009591 metachromatic leukodystrophy, juvenile form http http://identifiers.org/hgnc/713 disease_has_basis_in_dysfunction_of MONDO:0009592 metaphyseal acroscyphodysplasia GARD GARD:0003519 one_to_one MONDO:0009592 metaphyseal acroscyphodysplasia ICD10 ICD10:Q78.5 inexact MONDO:0009592 metaphyseal acroscyphodysplasia MESH MESH:C537350 one_to_one @@ -55757,6 +56959,7 @@ MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO MONDO:001676 MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type OMIM OMIM:250220 one_to_one MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type Orphanet Orphanet:93317 one_to_one MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type UMLS UMLS:C1855229 one_to_one +MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type http http://identifiers.org/hgnc/4556 disease_has_basis_in_dysfunction_of MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type MESH MESH:C565400 one_to_one MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type MONDO MONDO:0000138,MONDO:0019693 subclass MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type OMIM OMIM:250230 one_to_one @@ -55773,6 +56976,7 @@ MONDO:0009595 cartilage-hair hypoplasia OMIM OMIM:250250 one_to_one MONDO:0009595 cartilage-hair hypoplasia Orphanet Orphanet:175 one_to_one MONDO:0009595 cartilage-hair hypoplasia SCTID SCTID:7720002 one_to_one MONDO:0009595 cartilage-hair hypoplasia UMLS UMLS:C0220748 one_to_one +MONDO:0009595 cartilage-hair hypoplasia http http://identifiers.org/hgnc/10031 disease_has_basis_in_dysfunction_of MONDO:0009596 metaphyseal chondrodysplasia, Pena type MESH MESH:C565399 one_to_one MONDO:0009596 metaphyseal chondrodysplasia, Pena type MONDO MONDO:0000138,MONDO:0003847 subclass MONDO:0009596 metaphyseal chondrodysplasia, Pena type OMIM OMIM:250300 one_to_one @@ -55785,11 +56989,13 @@ MONDO:0009597 metaphyseal chondrodysplasia, Spahr type OMIM OMIM:250400 one_to_o MONDO:0009597 metaphyseal chondrodysplasia, Spahr type Orphanet Orphanet:2501 one_to_one MONDO:0009597 metaphyseal chondrodysplasia, Spahr type SCTID SCTID:254084008 one_to_one MONDO:0009597 metaphyseal chondrodysplasia, Spahr type UMLS UMLS:C0432225 one_to_one +MONDO:0009597 metaphyseal chondrodysplasia, Spahr type http http://identifiers.org/hgnc/7159 disease_has_basis_in_dysfunction_of MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MESH MESH:C565398 one_to_one MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO MONDO:0019693 subclass MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome OMIM OMIM:250410 one_to_one MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome Orphanet Orphanet:166035 one_to_one MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome UMLS UMLS:C1855188 one_to_one +MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome http http://identifiers.org/hgnc/10664 disease_has_basis_in_dysfunction_of MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome GARD GARD:0003566 one_to_one MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome ICD10 ICD10:Q78.5 inexact MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MESH MESH:C565396 one_to_one @@ -55818,24 +57024,28 @@ MONDO:0009603 neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficie MONDO:0009603 neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency OMIM OMIM:250620 one_to_one MONDO:0009603 neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Orphanet Orphanet:88639 one_to_one MONDO:0009603 neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency SCTID SCTID:722488009 one_to_one +MONDO:0009603 neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency http http://identifiers.org/hgnc/4908 disease_has_basis_in_dysfunction_of MONDO:0009604 methemoglobin reductase deficiency MESH MESH:C563171 one_to_one MONDO:0009604 methemoglobin reductase deficiency MONDO MONDO:0018963 subclass MONDO:0009604 methemoglobin reductase deficiency OMIM OMIM:250700 one_to_one MONDO:0009604 methemoglobin reductase deficiency SCTID SCTID:234397008 one_to_one MONDO:0009604 methemoglobin reductase deficiency UMLS UMLS:C0472786 one_to_one MONDO:0009605 methemoglobinemia type 4 MESH MESH:C567102 one_to_one -MONDO:0009605 methemoglobinemia type 4 MONDO MONDO:0018963 subclass +MONDO:0009605 methemoglobinemia type 4 MONDO MONDO:0001117,MONDO:0018963 subclass MONDO:0009605 methemoglobinemia type 4 OMIM OMIM:250790 one_to_one MONDO:0009605 methemoglobinemia type 4 UMLS UMLS:C2673427 one_to_one +MONDO:0009605 methemoglobinemia type 4 http http://identifiers.org/hgnc/2570 disease_has_basis_in_dysfunction_of MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase GARD GARD:0003909 one_to_one MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase MONDO MONDO:0018963 subclass MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase OMIM OMIM:250800 one_to_one +MONDO:0009606 methemoglobinemia due to deficiency of methemoglobin reductase http http://identifiers.org/hgnc/2873 disease_has_basis_in_dysfunction_of MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency GARD GARD:0008397 one_to_one MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency ICD10 ICD10:E72.1 inexact MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency MONDO MONDO:0019058,MONDO:0019222 subclass MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency NCIT NCIT:C123435 one_to_one MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency OMIM OMIM:250850 one_to_one MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency Orphanet Orphanet:168598 one_to_one +MONDO:0009607 brain demyelination due to methionine adenosyltransferase deficiency http http://identifiers.org/hgnc/6903 disease_has_basis_in_dysfunction_of MONDO:0009608 methionine malabsorption syndrome MESH MESH:C562682 one_to_one MONDO:0009608 methionine malabsorption syndrome MONDO MONDO:0003847 subclass MONDO:0009608 methionine malabsorption syndrome OMIM OMIM:250900 one_to_one @@ -55849,6 +57059,7 @@ MONDO:0009609 methylcobalamin deficiency type cblG MONDO MONDO:0018964,MONDO:001 MONDO:0009609 methylcobalamin deficiency type cblG OMIM OMIM:250940 one_to_one MONDO:0009609 methylcobalamin deficiency type cblG Orphanet Orphanet:2170 one_to_one MONDO:0009609 methylcobalamin deficiency type cblG SCTID SCTID:721187005 one_to_one +MONDO:0009609 methylcobalamin deficiency type cblG http http://identifiers.org/hgnc/7468 disease_has_basis_in_dysfunction_of MONDO:0009610 3-methylglutaconic aciduria type 1 DOID DOID:0110002 one_to_one MONDO:0009610 3-methylglutaconic aciduria type 1 GARD GARD:0010321 one_to_one MONDO:0009610 3-methylglutaconic aciduria type 1 ICD10 ICD10:E71.1 inexact @@ -55859,6 +57070,7 @@ MONDO:0009610 3-methylglutaconic aciduria type 1 OMIM OMIM:250950 one_to_one MONDO:0009610 3-methylglutaconic aciduria type 1 Orphanet Orphanet:67046 one_to_one MONDO:0009610 3-methylglutaconic aciduria type 1 SCTID SCTID:237951008 one_to_one MONDO:0009610 3-methylglutaconic aciduria type 1 UMLS UMLS:C0342727,UMLS:C0342728 inexact +MONDO:0009610 3-methylglutaconic aciduria type 1 http http://identifiers.org/hgnc/890 disease_has_basis_in_dysfunction_of MONDO:0009611 3-methylglutaconic aciduria type 4 DOID DOID:0110006 one_to_one MONDO:0009611 3-methylglutaconic aciduria type 4 GARD GARD:0010342 one_to_one MONDO:0009611 3-methylglutaconic aciduria type 4 ICD10 ICD10:E71.1 inexact @@ -55872,9 +57084,11 @@ MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency GARD GARD:0003586 one_to_one MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency ICD10 ICD10:E71.1 inexact MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO MONDO:0017390,MONDO:0019743 subclass +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency NCIT NCIT:C148366 one_to_one MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency OMIM OMIM:251000 one_to_one MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency Orphanet Orphanet:27 one_to_one MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency UMLS UMLS:C1855114 one_to_one +MONDO:0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency http http://identifiers.org/hgnc/7526 disease_has_basis_in_dysfunction_of MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA DOID DOID:0060742 one_to_one MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA GARD GARD:0005500 one_to_one MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA ICD10 ICD10:E71.1 inexact @@ -55884,6 +57098,7 @@ MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA OMIM OMIM: MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA Orphanet Orphanet:79310 one_to_one MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA SCTID SCTID:73843004,SCTID:82245003 inexact MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA UMLS UMLS:C0342721,UMLS:C0342722,UMLS:C1855109 inexact +MONDO:0009613 vitamin B12-responsive methylmalonic acidemia type cblA http http://identifiers.org/hgnc/18871 disease_has_basis_in_dysfunction_of MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB DOID DOID:0060743 one_to_one MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB GARD GARD:0009479 one_to_one MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB ICD10 ICD10:E71.1 inexact @@ -55892,12 +57107,14 @@ MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB NCIT NCIT: MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB OMIM OMIM:251110 one_to_one MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB Orphanet Orphanet:79311 one_to_one MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB UMLS UMLS:C1855102 one_to_one +MONDO:0009614 vitamin B12-responsive methylmalonic acidemia type cblB http http://identifiers.org/hgnc/19331 disease_has_basis_in_dysfunction_of MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency ICD10 ICD10:E71.1 inexact MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MESH MESH:C565386 one_to_one MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO MONDO:0017390 subclass MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency OMIM OMIM:251120 one_to_one MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Orphanet Orphanet:308425 one_to_one MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency UMLS UMLS:C1855100 one_to_one +MONDO:0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency http http://identifiers.org/hgnc/16732 disease_has_basis_in_dysfunction_of MONDO:0009616 microcephalic primordial dwarfism, Toriello type GARD GARD:0003602 one_to_one MONDO:0009616 microcephalic primordial dwarfism, Toriello type ICD10 ICD10:Q87.1 inexact MONDO:0009616 microcephalic primordial dwarfism, Toriello type MESH MESH:C537321 one_to_one @@ -55910,6 +57127,7 @@ MONDO:0009617 microcephaly 1, primary, autosomal recessive MESH MESH:C565384 one MONDO:0009617 microcephaly 1, primary, autosomal recessive MONDO MONDO:0016660 subclass MONDO:0009617 microcephaly 1, primary, autosomal recessive OMIM OMIM:251200 one_to_one MONDO:0009617 microcephaly 1, primary, autosomal recessive UMLS UMLS:C1855081 one_to_one +MONDO:0009617 microcephaly 1, primary, autosomal recessive http http://identifiers.org/hgnc/6954 disease_has_basis_in_dysfunction_of MONDO:0009618 microcephaly-cardiomyopathy syndrome GARD GARD:0003609 one_to_one MONDO:0009618 microcephaly-cardiomyopathy syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009618 microcephaly-cardiomyopathy syndrome MESH MESH:C536711 one_to_one @@ -55922,6 +57140,7 @@ MONDO:0009619 microcephaly-micromelia syndrome MESH MESH:C565382 one_to_one MONDO:0009619 microcephaly-micromelia syndrome MONDO MONDO:0003847 subclass MONDO:0009619 microcephaly-micromelia syndrome OMIM OMIM:251230 one_to_one MONDO:0009619 microcephaly-micromelia syndrome UMLS UMLS:C1855079 one_to_one +MONDO:0009619 microcephaly-micromelia syndrome http http://identifiers.org/hgnc/2993 disease_has_basis_in_dysfunction_of 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 @@ -55941,6 +57160,7 @@ MONDO:0009622 Jawad syndrome MONDO MONDO:0015159,MONDO:0017119 subclass MONDO:0009622 Jawad syndrome OMIM OMIM:251255 one_to_one MONDO:0009622 Jawad syndrome Orphanet Orphanet:313795 one_to_one MONDO:0009622 Jawad syndrome UMLS UMLS:C0796063 one_to_one +MONDO:0009622 Jawad syndrome http http://identifiers.org/hgnc/9891 disease_has_basis_in_dysfunction_of MONDO:0009623 Nijmegen breakage syndrome DOID DOID:7400 one_to_one MONDO:0009623 Nijmegen breakage syndrome GARD GARD:0003904 one_to_one MONDO:0009623 Nijmegen breakage syndrome ICD10 ICD10:Q87.8 inexact @@ -55952,12 +57172,14 @@ MONDO:0009623 Nijmegen breakage syndrome OMIM OMIM:251260 one_to_one MONDO:0009623 Nijmegen breakage syndrome Orphanet Orphanet:647 one_to_one MONDO:0009623 Nijmegen breakage syndrome SCTID SCTID:234638009 one_to_one MONDO:0009623 Nijmegen breakage syndrome UMLS UMLS:C0398791,UMLS:CN860323 inexact +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: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 MONDO:0009624 microcephaly and chorioretinopathy 1 Orphanet Orphanet:2518 one_to_one +MONDO:0009624 microcephaly and chorioretinopathy 1 http http://identifiers.org/hgnc/18127 disease_has_basis_in_dysfunction_of MONDO:0009625 microcephaly with spastic quadriplegia GARD GARD:0008510 one_to_one MONDO:0009625 microcephaly with spastic quadriplegia MESH MESH:C537546 one_to_one MONDO:0009625 microcephaly with spastic quadriplegia MONDO MONDO:0003847 subclass @@ -55972,6 +57194,7 @@ MONDO:0009626 pseudo-TORCH syndrome OMIMPS OMIMPS:251290 one_to_one MONDO:0009626 pseudo-TORCH syndrome Orphanet Orphanet:1229 one_to_one MONDO:0009626 pseudo-TORCH syndrome SCTID SCTID:722390006 one_to_one MONDO:0009626 pseudo-TORCH syndrome UMLS UMLS:C3489725 one_to_one +MONDO:0009626 pseudo-TORCH syndrome http http://identifiers.org/hgnc/8104 disease_has_basis_in_dysfunction_of MONDO:0009627 Galloway-Mowat syndrome DOID DOID:0060364 one_to_one MONDO:0009627 Galloway-Mowat syndrome GARD GARD:0000065 one_to_one MONDO:0009627 Galloway-Mowat syndrome ICD10 ICD10:Q04.3 inexact @@ -55982,6 +57205,7 @@ MONDO:0009627 Galloway-Mowat syndrome OMIMPS OMIMPS:251300 one_to_one MONDO:0009627 Galloway-Mowat syndrome Orphanet Orphanet:2065 one_to_one MONDO:0009627 Galloway-Mowat syndrome SCTID SCTID:721297008 one_to_one MONDO:0009627 Galloway-Mowat syndrome UMLS UMLS:C0795949 one_to_one +MONDO:0009627 Galloway-Mowat syndrome http http://identifiers.org/hgnc/25928,http://identifiers.org/hgnc/28986 disease_has_basis_in_dysfunction_of MONDO:0009628 microcolon (disease) HP HP:0004388 one_to_one MONDO:0009628 microcolon (disease) ICD9 ICD9:751.5 inexact MONDO:0009628 microcolon (disease) MESH MESH:C562563 one_to_one @@ -55992,6 +57216,7 @@ MONDO:0009628 microcolon (disease) SCTID SCTID:18389004 one_to_one MONDO:0009629 Desbuquois dysplasia 1 MONDO MONDO:0015426 subclass MONDO:0009629 Desbuquois dysplasia 1 OMIM OMIM:251450 one_to_one MONDO:0009629 Desbuquois dysplasia 1 UMLS UMLS:C4012146 one_to_one +MONDO:0009629 Desbuquois dysplasia 1 http http://identifiers.org/hgnc/19721 disease_has_basis_in_dysfunction_of MONDO:0009630 microphthalmia, isolated, with coloboma 4 MONDO MONDO:0010303 subclass MONDO:0009630 microphthalmia, isolated, with coloboma 4 OMIM OMIM:251505 one_to_one MONDO:0009630 microphthalmia, isolated, with coloboma 4 SCTID SCTID:715771008 one_to_one @@ -56009,6 +57234,7 @@ MONDO:0009632 microphthalmia with hyperopia, retinal degeneration, macrophakia, MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma MONDO MONDO:0003847 subclass MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma OMIM OMIM:251750 one_to_one MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma UMLS UMLS:C3538951 one_to_one +MONDO:0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma http http://identifiers.org/hgnc/6715 disease_has_basis_in_dysfunction_of MONDO:0009634 microtia with meatal atresia and conductive deafness GARD GARD:0000357,GARD:0003657 inexact MONDO:0009634 microtia with meatal atresia and conductive deafness MESH MESH:C537469 one_to_one MONDO:0009634 microtia with meatal atresia and conductive deafness MONDO MONDO:0002254,MONDO:0003847 subclass @@ -56024,11 +57250,13 @@ MONDO:0009635 microvillus inclusion disease OMIM OMIM:251850 one_to_one MONDO:0009635 microvillus inclusion disease Orphanet Orphanet:2290 one_to_one MONDO:0009635 microvillus inclusion disease SCTID SCTID:235729009 one_to_one MONDO:0009635 microvillus inclusion disease UMLS UMLS:C0341306 one_to_one +MONDO:0009635 microvillus inclusion disease http http://identifiers.org/hgnc/7603 disease_has_basis_in_dysfunction_of MONDO:0009636 mitochondrial DNA depletion syndrome 3 DOID DOID:0080121 one_to_one -MONDO:0009636 mitochondrial DNA depletion syndrome 3 MONDO MONDO:0016808,MONDO:0019236 subclass +MONDO:0009636 mitochondrial DNA depletion syndrome 3 MONDO MONDO:0016808,MONDO:0018158,MONDO:0019236 subclass MONDO:0009636 mitochondrial DNA depletion syndrome 3 OMIM OMIM:251880 one_to_one MONDO:0009636 mitochondrial DNA depletion syndrome 3 Orphanet Orphanet:279934 one_to_one MONDO:0009636 mitochondrial DNA depletion syndrome 3 UMLS UMLS:C3151513,UMLS:C4310935 inexact +MONDO:0009636 mitochondrial DNA depletion syndrome 3 http http://identifiers.org/hgnc/2858 disease_has_basis_in_dysfunction_of 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 @@ -56039,6 +57267,7 @@ MONDO:0009637 mitochondrial myopathy NCIT NCIT:C101328 one_to_one MONDO:0009637 mitochondrial myopathy OMIM OMIM:251900 one_to_one MONDO:0009637 mitochondrial myopathy Orphanet Orphanet:206966 one_to_one MONDO:0009637 mitochondrial myopathy UMLS UMLS:C0162670 one_to_one +MONDO:0009637 mitochondrial myopathy http http://identifiers.org/hgnc/7501 disease_has_basis_in_dysfunction_of MONDO:0009638 mitochondrial myopathy with a defect 1N mitochondrial-protein transport MESH MESH:C565376 one_to_one MONDO:0009638 mitochondrial myopathy with a defect 1N mitochondrial-protein transport MONDO MONDO:0009637 subclass MONDO:0009638 mitochondrial myopathy with a defect 1N mitochondrial-protein transport OMIM OMIM:251945 one_to_one @@ -56047,15 +57276,17 @@ MONDO:0009639 mitochondrial myopathy with lactic acidosis GARD GARD:0003682 one_ MONDO:0009639 mitochondrial myopathy with lactic acidosis MESH MESH:C537476 one_to_one MONDO:0009639 mitochondrial myopathy with lactic acidosis MONDO MONDO:0009637 subclass MONDO:0009639 mitochondrial myopathy with lactic acidosis OMIM OMIM:251950 one_to_one +MONDO:0009639 mitochondrial myopathy with lactic acidosis http http://identifiers.org/hgnc/28900 disease_has_basis_in_dysfunction_of MONDO:0009640 mitochondrial complex I deficiency DOID DOID:0060536 one_to_one MONDO:0009640 mitochondrial complex I deficiency GARD GARD:0003908 one_to_one MONDO:0009640 mitochondrial complex I deficiency GO GO:0005747 disease_has_basis_in_dysfunction_of MONDO:0009640 mitochondrial complex I deficiency ICD10 ICD10:G71.3 inexact MONDO:0009640 mitochondrial complex I deficiency MESH MESH:C537475 one_to_one -MONDO:0009640 mitochondrial complex I deficiency MONDO MONDO:0000001,MONDO:0000066,MONDO:0009637,MONDO:0015920,MONDO:0016805 subclass +MONDO:0009640 mitochondrial complex I deficiency MONDO MONDO:0000001,MONDO:0000066,MONDO:0009637,MONDO:0015920,MONDO:0016805,MONDO:0044971 subclass MONDO:0009640 mitochondrial complex I deficiency OMIM OMIM:252010 one_to_one MONDO:0009640 mitochondrial complex I deficiency Orphanet Orphanet:2609 one_to_one MONDO:0009640 mitochondrial complex I deficiency UMLS UMLS:C1838979,UMLS:C2936907 inexact +MONDO:0009640 mitochondrial complex I deficiency http http://identifiers.org/hgnc/1321,http://identifiers.org/hgnc/15899,http://identifiers.org/hgnc/18828,http://identifiers.org/hgnc/20278,http://identifiers.org/hgnc/20371,http://identifiers.org/hgnc/21034,http://identifiers.org/hgnc/26927,http://identifiers.org/hgnc/28086,http://identifiers.org/hgnc/29918,http://identifiers.org/hgnc/30883,http://identifiers.org/hgnc/7683,http://identifiers.org/hgnc/7698,http://identifiers.org/hgnc/7704,http://identifiers.org/hgnc/7707,http://identifiers.org/hgnc/7708,http://identifiers.org/hgnc/7710,http://identifiers.org/hgnc/7711,http://identifiers.org/hgnc/7713,http://identifiers.org/hgnc/7716,http://identifiers.org/hgnc/7717 disease_has_basis_in_dysfunction_of MONDO:0009641 mitochondrial complex II deficiency DOID DOID:0060537 one_to_one MONDO:0009641 mitochondrial complex II deficiency GARD GARD:0005053 one_to_one MONDO:0009641 mitochondrial complex II deficiency ICD10 ICD10:G71.3 inexact @@ -56065,6 +57296,7 @@ MONDO:0009641 mitochondrial complex II deficiency MONDO MONDO:0000066,MONDO:0009 MONDO:0009641 mitochondrial complex II deficiency OMIM OMIM:252011 one_to_one MONDO:0009641 mitochondrial complex II deficiency Orphanet Orphanet:3208 one_to_one MONDO:0009641 mitochondrial complex II deficiency SCTID SCTID:124165006 one_to_one +MONDO:0009641 mitochondrial complex II deficiency http http://identifiers.org/hgnc/10680,http://identifiers.org/hgnc/10683,http://identifiers.org/hgnc/33867 disease_has_basis_in_dysfunction_of MONDO:0009642 orofaciodigital syndrome type II GARD GARD:0003701 one_to_one MONDO:0009642 orofaciodigital syndrome type II ICD10 ICD10:Q87.0 inexact MONDO:0009642 orofaciodigital syndrome type II ICD9 ICD9:759.89 inexact @@ -56079,6 +57311,7 @@ MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A OMIM OMIM:252150 one_to_one MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Orphanet Orphanet:308386 one_to_one MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A UMLS UMLS:C1854988 one_to_one +MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A http http://identifiers.org/hgnc/7190 disease_has_basis_in_dysfunction_of MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A url url:https://www.ncbi.nlm.nih.gov/pubmed/9731530 one_to_one MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B DOID DOID:0111163 one_to_one MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B ICD10 ICD10:E72.1 inexact @@ -56087,6 +57320,7 @@ MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B OMIM OMIM:252160 one_to_one MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Orphanet Orphanet:308393 one_to_one MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B UMLS UMLS:C1854989 one_to_one +MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B http http://identifiers.org/hgnc/7193 disease_has_basis_in_dysfunction_of MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B url url:https://www.ncbi.nlm.nih.gov/pubmed/10053004 one_to_one MONDO:0009645 monocyte chemotactic disorder MESH MESH:C565371 one_to_one MONDO:0009645 monocyte chemotactic disorder MONDO MONDO:0015279 subclass @@ -56117,6 +57351,7 @@ MONDO:0009650 inclusion-cell disease OMIM OMIM:252500 one_to_one MONDO:0009650 inclusion-cell disease Orphanet Orphanet:576 one_to_one MONDO:0009650 inclusion-cell disease SCTID SCTID:70199000 one_to_one MONDO:0009650 inclusion-cell disease UMLS UMLS:C0020725,UMLS:C2673377 inexact +MONDO:0009650 inclusion-cell disease http http://identifiers.org/hgnc/29670 disease_has_basis_in_dysfunction_of MONDO:0009651 pseudo-Hurler polydystrophy DOID DOID:0080071 one_to_one MONDO:0009651 pseudo-Hurler polydystrophy GARD GARD:0003806 one_to_one MONDO:0009651 pseudo-Hurler polydystrophy ICD10 ICD10:E77.0 inexact @@ -56124,6 +57359,7 @@ MONDO:0009651 pseudo-Hurler polydystrophy MONDO MONDO:0018931 subclass MONDO:0009651 pseudo-Hurler polydystrophy OMIM OMIM:252600 one_to_one MONDO:0009651 pseudo-Hurler polydystrophy Orphanet Orphanet:423461 one_to_one MONDO:0009651 pseudo-Hurler polydystrophy SCTID SCTID:65764006 one_to_one +MONDO:0009651 pseudo-Hurler polydystrophy http http://identifiers.org/hgnc/29670 disease_has_basis_in_dysfunction_of MONDO:0009652 mucolipidosis type III gamma ICD10 ICD10:E77.0 inexact MONDO:0009652 mucolipidosis type III gamma MESH MESH:C565367 one_to_one MONDO:0009652 mucolipidosis type III gamma MONDO MONDO:0009651 subclass @@ -56131,28 +57367,32 @@ MONDO:0009652 mucolipidosis type III gamma NCIT NCIT:C129978 one_to_one MONDO:0009652 mucolipidosis type III gamma OMIM OMIM:252605 one_to_one MONDO:0009652 mucolipidosis type III gamma Orphanet Orphanet:423470 one_to_one MONDO:0009652 mucolipidosis type III gamma UMLS UMLS:C1854896 one_to_one +MONDO:0009652 mucolipidosis type III gamma http http://identifiers.org/hgnc/23026 disease_has_basis_in_dysfunction_of 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:0015955,MONDO:0015960,MONDO:0016397,MONDO:0019248,MONDO:0020244,MONDO:0020279 subclass +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 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 MONDO:0009653 mucolipidosis type IV SCTID SCTID:111384001 one_to_one MONDO:0009653 mucolipidosis type IV UMLS UMLS:C0238286,UMLS:CN716584 inexact +MONDO:0009653 mucolipidosis type IV http http://identifiers.org/hgnc/13356 disease_has_basis_in_dysfunction_of MONDO:0009654 mucopolysaccharidoses, unclassified types MESH MESH:C562442 one_to_one MONDO:0009654 mucopolysaccharidoses, unclassified types MONDO MONDO:0019249 subclass MONDO:0009654 mucopolysaccharidoses, unclassified types OMIM OMIM:252700 one_to_one MONDO:0009654 mucopolysaccharidoses, unclassified types UMLS UMLS:C0220752 one_to_one MONDO:0009655 Sanfilippo syndrome type A GARD GARD:0002649,GARD:0007071 inexact -MONDO:0009655 Sanfilippo syndrome type A GO GO:0016250 disease_has_basis_in_disruption_of +MONDO:0009655 Sanfilippo syndrome type A GO GO:0004561,GO:0016250 disease_has_basis_in_disruption_of MONDO:0009655 Sanfilippo syndrome type A ICD10 ICD10:E76.2 inexact -MONDO:0009655 Sanfilippo syndrome type A MONDO MONDO:0018937,MONDO:0021196 subclass +MONDO:0009655 Sanfilippo syndrome type A MONDO MONDO:0018937,MONDO:0044976 subclass MONDO:0009655 Sanfilippo syndrome type A NCIT NCIT:C84897 one_to_one MONDO:0009655 Sanfilippo syndrome type A OMIM OMIM:252900 one_to_one MONDO:0009655 Sanfilippo syndrome type A Orphanet Orphanet:79269 one_to_one MONDO:0009655 Sanfilippo syndrome type A SCTID SCTID:41572006 one_to_one MONDO:0009655 Sanfilippo syndrome type A UMLS UMLS:C0086647 one_to_one +MONDO:0009655 Sanfilippo syndrome type A http http://identifiers.org/hgnc/10818 disease_has_basis_in_dysfunction_of MONDO:0009656 Sanfilippo syndrome type B GARD GARD:0007072 one_to_one MONDO:0009656 Sanfilippo syndrome type B ICD10 ICD10:E76.2 inexact MONDO:0009656 Sanfilippo syndrome type B MONDO MONDO:0018937 subclass @@ -56160,6 +57400,7 @@ MONDO:0009656 Sanfilippo syndrome type B NCIT NCIT:C84898 one_to_one MONDO:0009656 Sanfilippo syndrome type B OMIM OMIM:252920 one_to_one MONDO:0009656 Sanfilippo syndrome type B Orphanet Orphanet:79270 one_to_one MONDO:0009656 Sanfilippo syndrome type B UMLS UMLS:C0086648 one_to_one +MONDO:0009656 Sanfilippo syndrome type B http http://identifiers.org/hgnc/7632 disease_has_basis_in_dysfunction_of MONDO:0009657 Sanfilippo syndrome type C GARD GARD:0007073 one_to_one MONDO:0009657 Sanfilippo syndrome type C ICD10 ICD10:E76.2 inexact MONDO:0009657 Sanfilippo syndrome type C MONDO MONDO:0018937 subclass @@ -56168,6 +57409,7 @@ MONDO:0009657 Sanfilippo syndrome type C OMIM OMIM:252930 one_to_one MONDO:0009657 Sanfilippo syndrome type C Orphanet Orphanet:79271 one_to_one MONDO:0009657 Sanfilippo syndrome type C SCTID SCTID:75238000 one_to_one MONDO:0009657 Sanfilippo syndrome type C UMLS UMLS:C0086649 one_to_one +MONDO:0009657 Sanfilippo syndrome type C http http://identifiers.org/hgnc/26527 disease_has_basis_in_dysfunction_of MONDO:0009658 Sanfilippo syndrome type D GARD GARD:0007074 one_to_one MONDO:0009658 Sanfilippo syndrome type D ICD10 ICD10:E76.2 inexact MONDO:0009658 Sanfilippo syndrome type D MONDO MONDO:0018937 subclass @@ -56176,47 +57418,52 @@ MONDO:0009658 Sanfilippo syndrome type D OMIM OMIM:252940 one_to_one MONDO:0009658 Sanfilippo syndrome type D Orphanet Orphanet:79272 one_to_one MONDO:0009658 Sanfilippo syndrome type D SCTID SCTID:15892005 one_to_one MONDO:0009658 Sanfilippo syndrome type D UMLS UMLS:C0086650 one_to_one +MONDO:0009658 Sanfilippo syndrome type D http http://identifiers.org/hgnc/4422 disease_has_basis_in_dysfunction_of MONDO:0009659 mucopolysaccharidosis type 4A GARD GARD:0003785 one_to_one MONDO:0009659 mucopolysaccharidosis type 4A GO GO:0033844 disease_has_basis_in_disruption_of MONDO:0009659 mucopolysaccharidosis type 4A ICD10 ICD10:E76.2 inexact -MONDO:0009659 mucopolysaccharidosis type 4A MONDO MONDO:0018938,MONDO:0019249,MONDO:0021196 subclass +MONDO:0009659 mucopolysaccharidosis type 4A MONDO MONDO:0018938,MONDO:0019249,MONDO:0044976 subclass MONDO:0009659 mucopolysaccharidosis type 4A NCIT NCIT:C84901 one_to_one MONDO:0009659 mucopolysaccharidosis type 4A OMIM OMIM:253000 one_to_one MONDO:0009659 mucopolysaccharidosis type 4A Orphanet Orphanet:309297 one_to_one MONDO:0009659 mucopolysaccharidosis type 4A SCTID SCTID:7259005 one_to_one +MONDO:0009659 mucopolysaccharidosis type 4A http http://identifiers.org/hgnc/4122 disease_has_basis_in_dysfunction_of MONDO:0009660 mucopolysaccharidosis type 4B GARD GARD:0003786 one_to_one MONDO:0009660 mucopolysaccharidosis type 4B GO GO:0004565 disease_has_basis_in_disruption_of MONDO:0009660 mucopolysaccharidosis type 4B ICD10 ICD10:E76.2 inexact -MONDO:0009660 mucopolysaccharidosis type 4B MONDO MONDO:0018938,MONDO:0019249,MONDO:0021196 subclass +MONDO:0009660 mucopolysaccharidosis type 4B MONDO MONDO:0018938,MONDO:0019249,MONDO:0044976 subclass MONDO:0009660 mucopolysaccharidosis type 4B NCIT NCIT:C84902 one_to_one MONDO:0009660 mucopolysaccharidosis type 4B OMIM OMIM:253010 one_to_one MONDO:0009660 mucopolysaccharidosis type 4B Orphanet Orphanet:309310 one_to_one MONDO:0009660 mucopolysaccharidosis type 4B SCTID SCTID:238044004 one_to_one MONDO:0009660 mucopolysaccharidosis type 4B UMLS UMLS:C0086652 one_to_one +MONDO:0009660 mucopolysaccharidosis type 4B http http://identifiers.org/hgnc/4298 disease_has_basis_in_dysfunction_of MONDO:0009661 mucopolysaccharidosis type 6 DOID DOID:12800 one_to_one MONDO:0009661 mucopolysaccharidosis type 6 GARD GARD:0007095 one_to_one MONDO:0009661 mucopolysaccharidosis type 6 GO GO:0003943 disease_has_basis_in_disruption_of MONDO:0009661 mucopolysaccharidosis type 6 ICD10 ICD10:E76.2 inexact MONDO:0009661 mucopolysaccharidosis type 6 MESH MESH:D009087 one_to_one -MONDO:0009661 mucopolysaccharidosis type 6 MONDO MONDO:0002254,MONDO:0019249,MONDO:0019706,MONDO:0020279,MONDO:0021196 subclass +MONDO:0009661 mucopolysaccharidosis type 6 MONDO MONDO:0002254,MONDO:0019249,MONDO:0019706,MONDO:0020279,MONDO:0044976 subclass MONDO:0009661 mucopolysaccharidosis type 6 MedDRA MedDRA:10056892 one_to_one MONDO:0009661 mucopolysaccharidosis type 6 NCIT NCIT:C61264 one_to_one MONDO:0009661 mucopolysaccharidosis type 6 OMIM OMIM:253200 one_to_one MONDO:0009661 mucopolysaccharidosis type 6 Orphanet Orphanet:583 one_to_one MONDO:0009661 mucopolysaccharidosis type 6 SCTID SCTID:69463008 one_to_one MONDO:0009661 mucopolysaccharidosis type 6 UMLS UMLS:C0026709 one_to_one +MONDO:0009661 mucopolysaccharidosis type 6 http http://identifiers.org/hgnc/714 disease_has_basis_in_dysfunction_of MONDO:0009662 mucopolysaccharidosis type 7 DOID DOID:12803 one_to_one MONDO:0009662 mucopolysaccharidosis type 7 GARD GARD:0007096 one_to_one MONDO:0009662 mucopolysaccharidosis type 7 GO GO:0004566 disease_has_basis_in_disruption_of MONDO:0009662 mucopolysaccharidosis type 7 ICD10 ICD10:E76.2,ICD10:E76.29 inexact MONDO:0009662 mucopolysaccharidosis type 7 MESH MESH:D016538 one_to_one -MONDO:0009662 mucopolysaccharidosis type 7 MONDO MONDO:0019249,MONDO:0019706,MONDO:0021196 subclass +MONDO:0009662 mucopolysaccharidosis type 7 MONDO MONDO:0019249,MONDO:0019706,MONDO:0044976 subclass MONDO:0009662 mucopolysaccharidosis type 7 MedDRA MedDRA:10056893 one_to_one MONDO:0009662 mucopolysaccharidosis type 7 NCIT NCIT:C84903 one_to_one MONDO:0009662 mucopolysaccharidosis type 7 OMIM OMIM:253220 one_to_one MONDO:0009662 mucopolysaccharidosis type 7 Orphanet Orphanet:584 one_to_one MONDO:0009662 mucopolysaccharidosis type 7 SCTID SCTID:43916004 one_to_one MONDO:0009662 mucopolysaccharidosis type 7 UMLS UMLS:C0085132 one_to_one +MONDO:0009662 mucopolysaccharidosis type 7 http http://identifiers.org/hgnc/4696 disease_has_basis_in_dysfunction_of MONDO:0009663 mucus inspissation of respiratory tract MESH MESH:C565366 one_to_one MONDO:0009663 mucus inspissation of respiratory tract MONDO MONDO:0003847 subclass MONDO:0009663 mucus inspissation of respiratory tract OMIM OMIM:253240 one_to_one @@ -56232,6 +57479,7 @@ MONDO:0009664 mulibrey nanism OMIM OMIM:253250 one_to_one MONDO:0009664 mulibrey nanism Orphanet Orphanet:2576 one_to_one MONDO:0009664 mulibrey nanism SCTID SCTID:81604003 one_to_one MONDO:0009664 mulibrey nanism UMLS UMLS:C0524582,UMLS:C2931895 inexact +MONDO:0009664 mulibrey nanism http http://identifiers.org/hgnc/7523 disease_has_basis_in_dysfunction_of MONDO:0009665 biotinidase deficiency DOID DOID:856 one_to_one MONDO:0009665 biotinidase deficiency GARD GARD:0000894 one_to_one MONDO:0009665 biotinidase deficiency ICD10 ICD10:D81.810,ICD10:E53.8 inexact @@ -56244,22 +57492,25 @@ MONDO:0009665 biotinidase deficiency OMIM OMIM:253260 one_to_one MONDO:0009665 biotinidase deficiency Orphanet Orphanet:79241 one_to_one MONDO:0009665 biotinidase deficiency SCTID SCTID:8808004 one_to_one MONDO:0009665 biotinidase deficiency UMLS UMLS:C0220754,UMLS:CN043572 inexact +MONDO:0009665 biotinidase deficiency http http://identifiers.org/hgnc/1122 disease_has_basis_in_dysfunction_of MONDO:0009666 holocarboxylase synthetase deficiency DOID DOID:859 one_to_one MONDO:0009666 holocarboxylase synthetase deficiency GARD GARD:0002721 one_to_one MONDO:0009666 holocarboxylase synthetase deficiency GO GO:0018271 disease_has_basis_in_disruption_of MONDO:0009666 holocarboxylase synthetase deficiency ICD10 ICD10:D81.818,ICD10:E53.8 inexact MONDO:0009666 holocarboxylase synthetase deficiency ICD9 ICD9:270.8 inexact MONDO:0009666 holocarboxylase synthetase deficiency MESH MESH:D028922 one_to_one -MONDO:0009666 holocarboxylase synthetase deficiency MONDO MONDO:0015454,MONDO:0015955,MONDO:0019213,MONDO:0021196,MONDO:0100033 subclass +MONDO:0009666 holocarboxylase synthetase deficiency MONDO MONDO:0015454,MONDO:0015955,MONDO:0019213,MONDO:0044976,MONDO:0100033 subclass MONDO:0009666 holocarboxylase synthetase deficiency NCIT NCIT:C98842 one_to_one MONDO:0009666 holocarboxylase synthetase deficiency OMIM OMIM:253270 one_to_one MONDO:0009666 holocarboxylase synthetase deficiency Orphanet Orphanet:79242 one_to_one MONDO:0009666 holocarboxylase synthetase deficiency SCTID SCTID:15307001,SCTID:360369003 inexact MONDO:0009666 holocarboxylase synthetase deficiency UMLS UMLS:C0268581 one_to_one +MONDO:0009666 holocarboxylase synthetase deficiency http http://identifiers.org/hgnc/4976 disease_has_basis_in_dysfunction_of MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 MONDO MONDO:0000171,MONDO:0018939,MONDO:0019523 subclass MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 NCIT NCIT:C126740 one_to_one MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 OMIM OMIM:253280 one_to_one MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 UMLS UMLS:C3151519 one_to_one +MONDO:0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 http http://identifiers.org/hgnc/19139 disease_has_basis_in_dysfunction_of MONDO:0009668 lethal multiple pterygium syndrome GARD GARD:0003834 one_to_one MONDO:0009668 lethal multiple pterygium syndrome ICD10 ICD10:Q79.8 inexact MONDO:0009668 lethal multiple pterygium syndrome ICD9 ICD9:759.89 inexact @@ -56269,6 +57520,7 @@ MONDO:0009668 lethal multiple pterygium syndrome OMIM OMIM:253290 one_to_one MONDO:0009668 lethal multiple pterygium syndrome Orphanet Orphanet:33108 one_to_one MONDO:0009668 lethal multiple pterygium syndrome SCTID SCTID:60192008 one_to_one MONDO:0009668 lethal multiple pterygium syndrome UMLS UMLS:C1854678 one_to_one +MONDO:0009668 lethal multiple pterygium syndrome http http://identifiers.org/hgnc/1955,http://identifiers.org/hgnc/1965,http://identifiers.org/hgnc/1967 disease_has_basis_in_dysfunction_of MONDO:0009669 Werdnig-Hoffmann disease COHD COHD:372616 one_to_one MONDO:0009669 Werdnig-Hoffmann disease DOID DOID:0060160,DOID:13137 inexact MONDO:0009669 Werdnig-Hoffmann disease GARD GARD:0007883 one_to_one @@ -56279,17 +57531,18 @@ MONDO:0009669 Werdnig-Hoffmann disease NCIT NCIT:C98670 one_to_one MONDO:0009669 Werdnig-Hoffmann disease OMIM OMIM:253300 one_to_one MONDO:0009669 Werdnig-Hoffmann disease Orphanet Orphanet:83330 one_to_one MONDO:0009669 Werdnig-Hoffmann disease SCTID SCTID:64383006 one_to_one +MONDO:0009669 Werdnig-Hoffmann disease http http://identifiers.org/hgnc/11117 disease_has_basis_in_dysfunction_of MONDO:0009670 lethal congenital contracture syndrome 1 DOID DOID:0060559 one_to_one MONDO:0009670 lethal congenital contracture syndrome 1 GARD GARD:0003227 one_to_one MONDO:0009670 lethal congenital contracture syndrome 1 ICD10 ICD10:Q68.8 inexact MONDO:0009670 lethal congenital contracture syndrome 1 MESH MESH:C537194 one_to_one MONDO:0009670 lethal congenital contracture syndrome 1 MONDO MONDO:0015221 excluded_subClassOf MONDO:0009670 lethal congenital contracture syndrome 1 MONDO MONDO:0015222,MONDO:0015510,MONDO:0015929,MONDO:0017436,MONDO:0043008 subclass -MONDO:0009670 lethal congenital contracture syndrome 1 NCBIGene NCBIGene:2733 disease_has_basis_in_dysfunction_of MONDO:0009670 lethal congenital contracture syndrome 1 OMIM OMIM:253310 one_to_one MONDO:0009670 lethal congenital contracture syndrome 1 Orphanet Orphanet:1486 one_to_one MONDO:0009670 lethal congenital contracture syndrome 1 SCTID SCTID:715418007 one_to_one MONDO:0009670 lethal congenital contracture syndrome 1 UMLS UMLS:C1854664 one_to_one +MONDO:0009670 lethal congenital contracture syndrome 1 http http://identifiers.org/hgnc/4315 disease_has_basis_in_dysfunction_of MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome GARD GARD:0001358 one_to_one MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome MESH MESH:C535458 one_to_one @@ -56309,6 +57562,7 @@ MONDO:0009672 juvenile spinal muscular atrophy OMIM OMIM:253400 one_to_one MONDO:0009672 juvenile spinal muscular atrophy Orphanet Orphanet:83419 one_to_one MONDO:0009672 juvenile spinal muscular atrophy SCTID SCTID:54280009 one_to_one MONDO:0009672 juvenile spinal muscular atrophy UMLS UMLS:C0152109,UMLS:C0700595 inexact +MONDO:0009672 juvenile spinal muscular atrophy http http://identifiers.org/hgnc/11118 disease_has_basis_in_dysfunction_of MONDO:0009673 intermediate spinal muscular atrophy DOID DOID:0050530 one_to_one MONDO:0009673 intermediate spinal muscular atrophy GARD GARD:0004945 one_to_one MONDO:0009673 intermediate spinal muscular atrophy ICD10 ICD10:G12.1 inexact @@ -56331,6 +57585,7 @@ MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A NCIT NC MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A OMIM OMIM:253600 one_to_one MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A Orphanet Orphanet:267 one_to_one MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A SCTID SCTID:715341003 one_to_one +MONDO:0009675 autosomal recessive limb-girdle muscular dystrophy type 2A http http://identifiers.org/hgnc/1480 disease_has_basis_in_dysfunction_of MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B DOID DOID:0110276 one_to_one MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B GARD GARD:0008574 one_to_one MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B ICD10 ICD10:G71.0 inexact @@ -56340,6 +57595,7 @@ MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B NCIT NC MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B OMIM OMIM:253601 one_to_one MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B Orphanet Orphanet:268 one_to_one MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B SCTID SCTID:718179003 one_to_one +MONDO:0009676 autosomal recessive limb-girdle muscular dystrophy type 2B http http://identifiers.org/hgnc/3097 disease_has_basis_in_dysfunction_of MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C DOID DOID:0110277 one_to_one MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C GARD GARD:0002429 one_to_one MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C ICD10 ICD10:G71.0 inexact @@ -56348,6 +57604,7 @@ MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C MONDO M MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C OMIM OMIM:253700 one_to_one MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C Orphanet Orphanet:353 one_to_one MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C UMLS UMLS:C0410173 one_to_one +MONDO:0009677 autosomal recessive limb-girdle muscular dystrophy type 2C http http://identifiers.org/hgnc/10809 disease_has_basis_in_dysfunction_of MONDO:0009678 Fukuyama congenital muscular dystrophy DOID DOID:0050559 one_to_one MONDO:0009678 Fukuyama congenital muscular dystrophy ICD10 ICD10:G71.0 inexact MONDO:0009678 Fukuyama congenital muscular dystrophy MONDO MONDO:0000171,MONDO:0018939,MONDO:0019523 subclass @@ -56356,6 +57613,7 @@ MONDO:0009678 Fukuyama congenital muscular dystrophy OMIM OMIM:253800 one_to_one MONDO:0009678 Fukuyama congenital muscular dystrophy Orphanet Orphanet:272 one_to_one MONDO:0009678 Fukuyama congenital muscular dystrophy SCTID SCTID:111502003 one_to_one MONDO:0009678 Fukuyama congenital muscular dystrophy UMLS UMLS:C0410174 one_to_one +MONDO:0009678 Fukuyama congenital muscular dystrophy http http://identifiers.org/hgnc/3622 disease_has_basis_in_dysfunction_of MONDO:0009679 arthrogryposis due to muscular dystrophy DOID DOID:0110631 one_to_one 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 @@ -56372,6 +57630,7 @@ MONDO:0009680 congenital muscular dystrophy-infantile cataract-hypogonadism synd MONDO:0009681 Ullrich congenital muscular dystrophy 1 MONDO MONDO:0000355 subclass MONDO:0009681 Ullrich congenital muscular dystrophy 1 OMIM OMIM:254090 one_to_one MONDO:0009681 Ullrich congenital muscular dystrophy 1 UMLS UMLS:CN033863 one_to_one +MONDO:0009681 Ullrich congenital muscular dystrophy 1 http http://identifiers.org/hgnc/2211,http://identifiers.org/hgnc/2212,http://identifiers.org/hgnc/2213 disease_has_basis_in_dysfunction_of MONDO:0009682 muscular dystrophy, congenital, with rapid progression MESH MESH:C564983 one_to_one MONDO:0009682 muscular dystrophy, congenital, with rapid progression MONDO MONDO:0019950 subclass MONDO:0009682 muscular dystrophy, congenital, with rapid progression OMIM OMIM:254100 one_to_one @@ -56386,6 +57645,7 @@ MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H OMIM OM MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H Orphanet Orphanet:1878 one_to_one MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H SCTID SCTID:43226001 one_to_one MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H UMLS UMLS:C0270968 one_to_one +MONDO:0009683 autosomal recessive limb-girdle muscular dystrophy type 2H http http://identifiers.org/hgnc/16380 disease_has_basis_in_dysfunction_of MONDO:0009684 muscular hypertonia, lethal MESH MESH:C564982 one_to_one MONDO:0009684 muscular hypertonia, lethal MONDO MONDO:0003847 subclass MONDO:0009684 muscular hypertonia, lethal OMIM OMIM:254120 one_to_one @@ -56412,7 +57672,7 @@ MONDO:0009688 myasthenia gravis GO GO:0022848 disease_has_basis_in_disruption_of MONDO:0009688 myasthenia gravis ICD10 ICD10:G70.0,ICD10:G70.00 inexact MONDO:0009688 myasthenia gravis ICD9 ICD9:358.0,ICD9:358.00 inexact MONDO:0009688 myasthenia gravis MESH MESH:D009157 one_to_one -MONDO:0009688 myasthenia gravis MONDO MONDO:0000774,MONDO:0018743,MONDO:0020008,MONDO:0021016 subclass +MONDO:0009688 myasthenia gravis MONDO MONDO:0000774,MONDO:0018743,MONDO:0020008,MONDO:0021016,MONDO:0044977 subclass MONDO:0009688 myasthenia gravis MedDRA MedDRA:10028417 one_to_one MONDO:0009688 myasthenia gravis NCIT NCIT:C60989 one_to_one MONDO:0009688 myasthenia gravis OMIM OMIM:254200 one_to_one @@ -56423,17 +57683,18 @@ MONDO:0009689 congenital myasthenic syndrome 6 DOID DOID:0110671 one_to_one MONDO:0009689 congenital myasthenic syndrome 6 GARD GARD:0009689 one_to_one MONDO:0009689 congenital myasthenic syndrome 6 ICD9 ICD9:358.00 inexact MONDO:0009689 congenital myasthenic syndrome 6 MESH MESH:C535759 one_to_one -MONDO:0009689 congenital myasthenic syndrome 6 MONDO MONDO:0009688,MONDO:0015120,MONDO:0015984,MONDO:0020345 subclass +MONDO:0009689 congenital myasthenic syndrome 6 MONDO MONDO:0009688,MONDO:0015120,MONDO:0015984,MONDO:0018940,MONDO:0020345 subclass MONDO:0009689 congenital myasthenic syndrome 6 NCIT NCIT:C132292 one_to_one MONDO:0009689 congenital myasthenic syndrome 6 OMIM OMIM:254210 one_to_one MONDO:0009689 congenital myasthenic syndrome 6 SCTID SCTID:230670003 one_to_one MONDO:0009689 congenital myasthenic syndrome 6 UMLS UMLS:C0393929 one_to_one +MONDO:0009689 congenital myasthenic syndrome 6 http http://identifiers.org/hgnc/1912 disease_has_basis_in_dysfunction_of MONDO:0009690 congenital myasthenic syndrome 10 DOID DOID:0110668 one_to_one MONDO:0009690 congenital myasthenic syndrome 10 ICD9 ICD9:358.00 inexact MONDO:0009690 congenital myasthenic syndrome 10 MONDO MONDO:0018940,MONDO:0020344 subclass -MONDO:0009690 congenital myasthenic syndrome 10 NCBIGene NCBIGene:285489 disease_has_basis_in_dysfunction_of MONDO:0009690 congenital myasthenic syndrome 10 OMIM OMIM:254300 one_to_one MONDO:0009690 congenital myasthenic syndrome 10 SCTID SCTID:230687001 one_to_one +MONDO:0009690 congenital myasthenic syndrome 10 http http://identifiers.org/hgnc/26594 disease_has_basis_in_dysfunction_of MONDO:0009691 mycosis fungoides COHD COHD:4040380 one_to_one MONDO:0009691 mycosis fungoides DOID DOID:8691 one_to_one MONDO:0009691 mycosis fungoides EFO EFO:1001051 one_to_one @@ -56464,6 +57725,7 @@ MONDO:0009692 primary myelofibrosis OMIM OMIM:254450 one_to_one MONDO:0009692 primary myelofibrosis ONCOTREE ONCOTREE:PMF one_to_one MONDO:0009692 primary myelofibrosis Orphanet Orphanet:824 one_to_one MONDO:0009692 primary myelofibrosis UMLS UMLS:C0001815,UMLS:C0948968,UMLS:C2355576 inexact +MONDO:0009692 primary myelofibrosis http http://identifiers.org/hgnc/1455,http://identifiers.org/hgnc/29605,http://identifiers.org/hgnc/6192,http://identifiers.org/hgnc/7217 disease_has_basis_in_dysfunction_of MONDO:0009693 plasma cell myeloma CL CL:0000786 disease_has_location MONDO:0009693 plasma cell myeloma COHD COHD:437233 one_to_one MONDO:0009693 plasma cell myeloma DOID DOID:9538 one_to_one @@ -56480,6 +57742,7 @@ MONDO:0009693 plasma cell myeloma OMIM OMIM:254500 one_to_one MONDO:0009693 plasma cell myeloma ONCOTREE ONCOTREE:PCM one_to_one MONDO:0009693 plasma cell myeloma Orphanet Orphanet:29073 one_to_one MONDO:0009693 plasma cell myeloma UMLS UMLS:C0026764 one_to_one +MONDO:0009693 plasma cell myeloma http http://identifiers.org/hgnc/1582,http://identifiers.org/hgnc/6601 disease_has_basis_in_dysfunction_of MONDO:0009694 myeloperoxidase deficiency GARD GARD:0003868 one_to_one MONDO:0009694 myeloperoxidase deficiency ICD10 ICD10:E80.3 inexact MONDO:0009694 myeloperoxidase deficiency ICD9 ICD9:288.8 inexact @@ -56489,6 +57752,7 @@ MONDO:0009694 myeloperoxidase deficiency OMIM OMIM:254600 one_to_one MONDO:0009694 myeloperoxidase deficiency Orphanet Orphanet:2587 one_to_one MONDO:0009694 myeloperoxidase deficiency SCTID SCTID:234433009 one_to_one MONDO:0009694 myeloperoxidase deficiency UMLS UMLS:C0398595 one_to_one +MONDO:0009694 myeloperoxidase deficiency http http://identifiers.org/hgnc/7218 disease_has_basis_in_dysfunction_of MONDO:0009695 myeloproliferative disease, autosomal recessive MESH MESH:C564977 one_to_one MONDO:0009695 myeloproliferative disease, autosomal recessive MONDO MONDO:0020076 subclass MONDO:0009695 myeloproliferative disease, autosomal recessive OMIM OMIM:254700 one_to_one @@ -56507,6 +57771,7 @@ MONDO:0009696 juvenile myoclonic epilepsy OMIM OMIM:254770 one_to_one MONDO:0009696 juvenile myoclonic epilepsy Orphanet Orphanet:307 one_to_one MONDO:0009696 juvenile myoclonic epilepsy SCTID SCTID:6204001 one_to_one MONDO:0009696 juvenile myoclonic epilepsy UMLS UMLS:C0270853 one_to_one +MONDO:0009696 juvenile myoclonic epilepsy http http://identifiers.org/hgnc/16406 disease_has_basis_in_dysfunction_of MONDO:0009697 Lafora disease DOID DOID:3534 one_to_one MONDO:0009697 Lafora disease GARD GARD:0008214 one_to_one MONDO:0009697 Lafora disease ICD10 ICD10:G40.3 inexact @@ -56518,6 +57783,7 @@ MONDO:0009697 Lafora disease OMIM OMIM:254780 one_to_one MONDO:0009697 Lafora disease Orphanet Orphanet:501 one_to_one MONDO:0009697 Lafora disease SCTID SCTID:230425004 one_to_one MONDO:0009697 Lafora disease UMLS UMLS:C0751783 one_to_one +MONDO:0009697 Lafora disease http http://identifiers.org/hgnc/21576,http://identifiers.org/hgnc/3413 disease_has_basis_in_dysfunction_of MONDO:0009698 Unverricht-Lundborg syndrome DOID DOID:3535 one_to_one MONDO:0009698 Unverricht-Lundborg syndrome GARD GARD:0003876 one_to_one MONDO:0009698 Unverricht-Lundborg syndrome ICD10 ICD10:G40.3 inexact @@ -56528,19 +57794,22 @@ MONDO:0009698 Unverricht-Lundborg syndrome OMIM OMIM:254800 one_to_one MONDO:0009698 Unverricht-Lundborg syndrome Orphanet Orphanet:308 one_to_one MONDO:0009698 Unverricht-Lundborg syndrome SCTID SCTID:230423006 one_to_one MONDO:0009698 Unverricht-Lundborg syndrome UMLS UMLS:C0751785 one_to_one +MONDO:0009698 Unverricht-Lundborg syndrome http http://identifiers.org/hgnc/2482 disease_has_basis_in_dysfunction_of MONDO:0009699 action myoclonus-renal failure syndrome MONDO MONDO:0015163,MONDO:0020074 subclass MONDO:0009699 action myoclonus-renal failure syndrome OMIM OMIM:254900 one_to_one MONDO:0009699 action myoclonus-renal failure syndrome Orphanet Orphanet:163696 one_to_one -MONDO:0009700 Carey-Fineman-Ziter syndrome DOID DOID:0080194 one_to_one -MONDO:0009700 Carey-Fineman-Ziter syndrome GARD GARD:0003889 one_to_one -MONDO:0009700 Carey-Fineman-Ziter syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0009700 Carey-Fineman-Ziter syndrome ICD9 ICD9:359.89 inexact -MONDO:0009700 Carey-Fineman-Ziter syndrome MESH MESH:C536102 one_to_one -MONDO:0009700 Carey-Fineman-Ziter syndrome MONDO MONDO:0015335,MONDO:0015958,MONDO:0043007 subclass -MONDO:0009700 Carey-Fineman-Ziter syndrome OMIM OMIM:254940 one_to_one -MONDO:0009700 Carey-Fineman-Ziter syndrome Orphanet Orphanet:1358 one_to_one -MONDO:0009700 Carey-Fineman-Ziter syndrome SCTID SCTID:429753001 one_to_one -MONDO:0009700 Carey-Fineman-Ziter syndrome UMLS UMLS:C1850746 one_to_one +MONDO:0009699 action myoclonus-renal failure syndrome http http://identifiers.org/hgnc/1665 disease_has_basis_in_dysfunction_of +MONDO:0009700 Carey-Fineman-Ziter syndrome DOID DOID:0080194 one_to_one +MONDO:0009700 Carey-Fineman-Ziter syndrome GARD GARD:0003889 one_to_one +MONDO:0009700 Carey-Fineman-Ziter syndrome ICD10 ICD10:Q87.0 inexact +MONDO:0009700 Carey-Fineman-Ziter syndrome ICD9 ICD9:359.89 inexact +MONDO:0009700 Carey-Fineman-Ziter syndrome MESH MESH:C536102 one_to_one +MONDO:0009700 Carey-Fineman-Ziter syndrome MONDO MONDO:0015335,MONDO:0015958,MONDO:0043007 subclass +MONDO:0009700 Carey-Fineman-Ziter syndrome OMIM OMIM:254940 one_to_one +MONDO:0009700 Carey-Fineman-Ziter syndrome Orphanet Orphanet:1358 one_to_one +MONDO:0009700 Carey-Fineman-Ziter syndrome SCTID SCTID:429753001 one_to_one +MONDO:0009700 Carey-Fineman-Ziter syndrome UMLS UMLS:C1850746 one_to_one +MONDO:0009700 Carey-Fineman-Ziter syndrome http http://identifiers.org/hgnc/33778 disease_has_basis_in_dysfunction_of MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia MESH MESH:C564974 one_to_one MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia MONDO MONDO:0003847 subclass MONDO:0009701 myopathy, granulovacuolar lobular, with electrical myotonia OMIM OMIM:254950 one_to_one @@ -56551,12 +57820,14 @@ MONDO:0009702 myopathy due to malate-aspartate shuttle defect OMIM OMIM:254960 o MONDO:0009702 myopathy due to malate-aspartate shuttle defect UMLS UMLS:C1850744 one_to_one MONDO:0009703 myopathy with abnormal lipid metabolism MONDO MONDO:0016117 subclass MONDO:0009703 myopathy with abnormal lipid metabolism OMIM OMIM:255100 one_to_one +MONDO:0009703 myopathy with abnormal lipid metabolism http http://identifiers.org/hgnc/24671 disease_has_basis_in_dysfunction_of MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form ICD10 ICD10:E71.3 inexact MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MESH MESH:C563461 one_to_one MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MONDO MONDO:0015515 subclass MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form OMIM OMIM:255110 one_to_one MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form Orphanet Orphanet:228302 one_to_one MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form UMLS UMLS:C1833508 one_to_one +MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form http http://identifiers.org/hgnc/2330 disease_has_basis_in_dysfunction_of MONDO:0009705 carnitine palmitoyl transferase 1A deficiency DOID DOID:0090129 one_to_one MONDO:0009705 carnitine palmitoyl transferase 1A deficiency GARD GARD:0001120 one_to_one MONDO:0009705 carnitine palmitoyl transferase 1A deficiency GO GO:0019395 disease_disrupts @@ -56569,6 +57840,8 @@ MONDO:0009705 carnitine palmitoyl transferase 1A deficiency OMIM OMIM:255120 one MONDO:0009705 carnitine palmitoyl transferase 1A deficiency Orphanet Orphanet:156 one_to_one MONDO:0009705 carnitine palmitoyl transferase 1A deficiency SCTID SCTID:238001003 one_to_one MONDO:0009705 carnitine palmitoyl transferase 1A deficiency UMLS UMLS:C1829703 one_to_one +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency http http://identifiers.org/hgnc/2328 disease_has_basis_in_dysfunction_of +MONDO:0009705 carnitine palmitoyl transferase 1A deficiency http http://identifiers.org/hgnc/2328 one_to_one 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 @@ -56577,6 +57850,7 @@ MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency OM 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 MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency UMLS UMLS:C1850718 one_to_one +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency http http://identifiers.org/hgnc/29882 disease_has_basis_in_dysfunction_of MONDO:0009707 myopathy with giant abnormal mitochondria MESH MESH:C564971 one_to_one MONDO:0009707 myopathy with giant abnormal mitochondria MONDO MONDO:0003847 subclass MONDO:0009707 myopathy with giant abnormal mitochondria OMIM OMIM:255140 one_to_one @@ -56585,9 +57859,11 @@ MONDO:0009708 myopathy, Myosin storage, autosomal recessive MESH MESH:C564970 on MONDO:0009708 myopathy, Myosin storage, autosomal recessive MONDO MONDO:0018889 subclass MONDO:0009708 myopathy, Myosin storage, autosomal recessive OMIM OMIM:255160 one_to_one MONDO:0009708 myopathy, Myosin storage, autosomal recessive UMLS UMLS:C1850709 one_to_one +MONDO:0009708 myopathy, Myosin storage, autosomal recessive http http://identifiers.org/hgnc/7577 disease_has_basis_in_dysfunction_of MONDO:0009709 myopathy, centronuclear, 2 MESH MESH:C562934 one_to_one -MONDO:0009709 myopathy, centronuclear, 2 MONDO MONDO:0015705 subclass +MONDO:0009709 myopathy, centronuclear, 2 MONDO MONDO:0015705,MONDO:0018947 subclass MONDO:0009709 myopathy, centronuclear, 2 OMIM OMIM:255200 one_to_one +MONDO:0009709 myopathy, centronuclear, 2 http http://identifiers.org/hgnc/1052 disease_has_basis_in_dysfunction_of MONDO:0009710 myotonia congenita DOID DOID:2106 one_to_one MONDO:0009710 myotonia congenita GARD GARD:0012301 one_to_one MONDO:0009710 myotonia congenita ICD10 ICD10:G71.1,ICD10:G71.12 inexact @@ -56607,6 +57883,7 @@ MONDO:0009711 congenital fiber-type disproportion myopathy NCIT NCIT:C120046 one MONDO:0009711 congenital fiber-type disproportion myopathy OMIM OMIM:255310 one_to_one MONDO:0009711 congenital fiber-type disproportion myopathy Orphanet Orphanet:2020 one_to_one MONDO:0009711 congenital fiber-type disproportion myopathy UMLS UMLS:C0546264 one_to_one +MONDO:0009711 congenital fiber-type disproportion myopathy http http://identifiers.org/hgnc/10483,http://identifiers.org/hgnc/12011,http://identifiers.org/hgnc/12012,http://identifiers.org/hgnc/129,http://identifiers.org/hgnc/15999,http://identifiers.org/hgnc/7577 disease_has_basis_in_dysfunction_of MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia GARD GARD:0010316 one_to_one MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia ICD10 ICD10:G71.2 inexact MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia MONDO MONDO:0018948 subclass @@ -56614,6 +57891,7 @@ MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia NCIT N MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia OMIM OMIM:255320 one_to_one MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia Orphanet Orphanet:98905 one_to_one 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 OMIM OMIM:255500 one_to_one @@ -56624,10 +57902,12 @@ MONDO:0009714 myosclerosis MONDO MONDO:0016111 subclass MONDO:0009714 myosclerosis MedDRA MedDRA:10064584 one_to_one 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 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 MONDO:0009716 Richieri Costa-da Silva syndrome GARD GARD:0004709 one_to_one MONDO:0009716 Richieri Costa-da Silva syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009716 Richieri Costa-da Silva syndrome MESH MESH:C535675 one_to_one @@ -56645,6 +57925,7 @@ MONDO:0009717 Schwartz-Jampel syndrome OMIM OMIM:255800 one_to_one MONDO:0009717 Schwartz-Jampel syndrome Orphanet Orphanet:800 one_to_one MONDO:0009717 Schwartz-Jampel syndrome SCTID SCTID:29145002 one_to_one MONDO:0009717 Schwartz-Jampel syndrome UMLS UMLS:C0036391 one_to_one +MONDO:0009717 Schwartz-Jampel syndrome http http://identifiers.org/hgnc/5273 disease_has_basis_in_dysfunction_of MONDO:0009718 myxedema DOID DOID:11634 one_to_one MONDO:0009718 myxedema EFO EFO:1001055 one_to_one MONDO:0009718 myxedema ICD10 ICD10:E03.9 inexact @@ -56662,6 +57943,7 @@ MONDO:0009719 familial atrial myxoma MONDO MONDO:0017129 subclass MONDO:0009719 familial atrial myxoma OMIM OMIM:255960 one_to_one MONDO:0009719 familial atrial myxoma Orphanet Orphanet:615 one_to_one MONDO:0009719 familial atrial myxoma UMLS UMLS:C1850635 one_to_one +MONDO:0009719 familial atrial myxoma http http://identifiers.org/hgnc/9388 disease_has_basis_in_dysfunction_of MONDO:0009720 Keipert syndrome GARD GARD:0000267 one_to_one MONDO:0009720 Keipert syndrome ICD10 ICD10:Q87.0 inexact MONDO:0009720 Keipert syndrome MESH MESH:C538337 one_to_one @@ -56685,10 +57967,12 @@ MONDO:0009722 Native American myopathy MONDO MONDO:0015335,MONDO:0018753,MONDO:0 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 +MONDO:0009722 Native American myopathy http http://identifiers.org/hgnc/28423 disease_has_basis_in_dysfunction_of MONDO:0009723 Leigh syndrome ICD9 ICD9:330.8 inexact MONDO:0009723 Leigh syndrome MONDO MONDO:0018859 subclass MONDO:0009723 Leigh syndrome OMIM OMIM:256000 one_to_one MONDO:0009723 Leigh syndrome SCTID SCTID:29570005 one_to_one +MONDO:0009723 Leigh syndrome http http://identifiers.org/hgnc/1020,http://identifiers.org/hgnc/10680,http://identifiers.org/hgnc/11474,http://identifiers.org/hgnc/2260,http://identifiers.org/hgnc/2263,http://identifiers.org/hgnc/23987,http://identifiers.org/hgnc/26927,http://identifiers.org/hgnc/28086,http://identifiers.org/hgnc/28625,http://identifiers.org/hgnc/7684,http://identifiers.org/hgnc/7685,http://identifiers.org/hgnc/7693,http://identifiers.org/hgnc/7710,http://identifiers.org/hgnc/7711,http://identifiers.org/hgnc/7714,http://identifiers.org/hgnc/7715 disease_has_basis_in_dysfunction_of MONDO:0009724 nail-patella-like renal disease GARD GARD:0000321 one_to_one MONDO:0009724 nail-patella-like renal disease ICD9 ICD9:756.89 inexact MONDO:0009724 nail-patella-like renal disease MESH MESH:C537228 one_to_one @@ -56699,15 +57983,17 @@ MONDO:0009724 nail-patella-like renal disease SCTID SCTID:236527004 one_to_one MONDO:0009724 nail-patella-like renal disease UMLS UMLS:C0403548 one_to_one MONDO:0009725 nemaline myopathy 2 DOID DOID:0110928 one_to_one MONDO:0009725 nemaline myopathy 2 MESH MESH:C538349 one_to_one -MONDO:0009725 nemaline myopathy 2 MONDO MONDO:0015735,MONDO:0015736,MONDO:0015737,MONDO:0015738 subclass +MONDO:0009725 nemaline myopathy 2 MONDO MONDO:0015735,MONDO:0015736,MONDO:0015737,MONDO:0015738,MONDO:0018958 subclass MONDO:0009725 nemaline myopathy 2 NCIT NCIT:C118784 one_to_one MONDO:0009725 nemaline myopathy 2 OMIM OMIM:256030 one_to_one MONDO:0009725 nemaline myopathy 2 UMLS UMLS:C1850569,UMLS:CN187052 inexact +MONDO:0009725 nemaline myopathy 2 http http://identifiers.org/hgnc/7720 disease_has_basis_in_dysfunction_of MONDO:0009726 proteasome disability syndrome GARD GARD:0003917 one_to_one MONDO:0009726 proteasome disability syndrome MESH MESH:C538334 one_to_one MONDO:0009726 proteasome disability syndrome MONDO MONDO:0017370,MONDO:0018782 subclass MONDO:0009726 proteasome disability syndrome OMIM OMIM:256040 one_to_one MONDO:0009726 proteasome disability syndrome Orphanet Orphanet:324977 one_to_one +MONDO:0009726 proteasome disability syndrome http http://identifiers.org/hgnc/9545 disease_has_basis_in_dysfunction_of 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 @@ -56717,6 +58003,7 @@ 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 MONDO:0009727 atelosteogenesis type II UMLS UMLS:C1850554,UMLS:C1850555 inexact +MONDO:0009727 atelosteogenesis type II http http://identifiers.org/hgnc/10994 disease_has_basis_in_dysfunction_of MONDO:0009728 nephronophthisis 1 DOID DOID:0111112 one_to_one MONDO:0009728 nephronophthisis 1 ICD10 ICD10:Q61.5 inexact MONDO:0009728 nephronophthisis 1 MESH MESH:C537699 one_to_one @@ -56726,6 +58013,7 @@ MONDO:0009728 nephronophthisis 1 OMIM OMIM:256100 one_to_one MONDO:0009728 nephronophthisis 1 Orphanet Orphanet:93592 one_to_one MONDO:0009728 nephronophthisis 1 SCTID SCTID:444830001 one_to_one MONDO:0009728 nephronophthisis 1 UMLS UMLS:C1855681,UMLS:CN205459 inexact +MONDO:0009728 nephronophthisis 1 http http://identifiers.org/hgnc/7905 disease_has_basis_in_dysfunction_of MONDO:0009729 nephropathy-deafness-hyperparathyroidism syndrome GARD GARD:0003940 one_to_one MONDO:0009729 nephropathy-deafness-hyperparathyroidism syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009729 nephropathy-deafness-hyperparathyroidism syndrome MESH MESH:C536401 one_to_one @@ -56755,13 +58043,16 @@ MONDO:0009732 congenital nephrotic syndrome, Finnish type OMIM OMIM:256300 one_t MONDO:0009732 congenital nephrotic syndrome, Finnish type Orphanet Orphanet:839 one_to_one MONDO:0009732 congenital nephrotic syndrome, Finnish type SCTID SCTID:197601003 one_to_one MONDO:0009732 congenital nephrotic syndrome, Finnish type UMLS UMLS:C0403399 one_to_one +MONDO:0009732 congenital nephrotic syndrome, Finnish type http http://identifiers.org/hgnc/7908 disease_has_basis_in_dysfunction_of MONDO:0009733 nephrotic syndrome, type 4 GARD GARD:0003547 one_to_one -MONDO:0009733 nephrotic syndrome, type 4 MONDO MONDO:0002350 subclass +MONDO:0009733 nephrotic syndrome, type 4 MONDO MONDO:0002350,MONDO:0005377 subclass MONDO:0009733 nephrotic syndrome, type 4 NCIT NCIT:C121198 one_to_one MONDO:0009733 nephrotic syndrome, type 4 OMIM OMIM:256370 one_to_one +MONDO:0009733 nephrotic syndrome, type 4 http http://identifiers.org/hgnc/12796 disease_has_basis_in_dysfunction_of MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 MONDO MONDO:0005803 subclass MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 OMIM OMIM:256450 one_to_one MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 SCTID SCTID:360339005 one_to_one +MONDO:0009734 hyperinsulinemic hypoglycemia, familial, 1 http http://identifiers.org/hgnc/59 disease_has_basis_in_dysfunction_of 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 @@ -56772,11 +58063,13 @@ MONDO:0009735 Netherton syndrome NCIT NCIT:C84922 one_to_one MONDO:0009735 Netherton syndrome OMIM OMIM:256500 one_to_one MONDO:0009735 Netherton syndrome Orphanet Orphanet:634 one_to_one MONDO:0009735 Netherton syndrome SCTID SCTID:312514006 one_to_one +MONDO:0009735 Netherton syndrome http http://identifiers.org/hgnc/15464 disease_has_basis_in_dysfunction_of MONDO:0009736 Neu-Laxova syndrome 1 DOID DOID:0080076 one_to_one MONDO:0009736 Neu-Laxova syndrome 1 ICD10 ICD10:Q87.8 inexact MONDO:0009736 Neu-Laxova syndrome 1 MONDO MONDO:0000179 subclass MONDO:0009736 Neu-Laxova syndrome 1 OMIM OMIM:256520 one_to_one MONDO:0009736 Neu-Laxova syndrome 1 UMLS UMLS:CN032230 one_to_one +MONDO:0009736 Neu-Laxova syndrome 1 http http://identifiers.org/hgnc/8923 disease_has_basis_in_dysfunction_of 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 @@ -56787,6 +58080,7 @@ MONDO:0009737 galactosialidosis OMIM OMIM:256540 one_to_one MONDO:0009737 galactosialidosis Orphanet Orphanet:351 one_to_one MONDO:0009737 galactosialidosis SCTID SCTID:35691006 one_to_one MONDO:0009737 galactosialidosis UMLS UMLS:C0268233 one_to_one +MONDO:0009737 galactosialidosis http http://identifiers.org/hgnc/9251 disease_has_basis_in_dysfunction_of 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 @@ -56796,6 +58090,7 @@ MONDO:0009738 sialidosis type 2 OMIM OMIM:256550 one_to_one MONDO:0009738 sialidosis type 2 Orphanet Orphanet:87876 one_to_one MONDO:0009738 sialidosis type 2 SCTID SCTID:52186006 one_to_one MONDO:0009738 sialidosis type 2 UMLS UMLS:C3888317,UMLS:CN206285 inexact +MONDO:0009738 sialidosis type 2 http http://identifiers.org/hgnc/7758 disease_has_basis_in_dysfunction_of MONDO:0009739 infantile neuroaxonal dystrophy GARD GARD:0003957 one_to_one MONDO:0009739 infantile neuroaxonal dystrophy ICD10 ICD10:G23.0 inexact MONDO:0009739 infantile neuroaxonal dystrophy ICD9 ICD9:330.8 inexact @@ -56813,6 +58108,7 @@ MONDO:0009740 neurofaciodigitorenal syndrome Orphanet Orphanet:2673 one_to_one MONDO:0009740 neurofaciodigitorenal syndrome UMLS UMLS:C0796088 one_to_one MONDO:0009741 neuroblastoma, susceptibility to MONDO MONDO:0005072 subclass 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 @@ -56826,26 +58122,29 @@ MONDO:0009743 neurologic disease, infantile multisystem, with osseous fragility MONDO:0009744 neuronal ceroid lipofuscinosis 1 DOID DOID:0110721 one_to_one MONDO:0009744 neuronal ceroid lipofuscinosis 1 GARD GARD:0001219 one_to_one MONDO:0009744 neuronal ceroid lipofuscinosis 1 ICD10 ICD10:E75.4 inexact -MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO MONDO:0015674,MONDO:0019260,MONDO:0019261,MONDO:0019262 subclass +MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO MONDO:0015674,MONDO:0016295,MONDO:0019260,MONDO:0019261,MONDO:0019262 subclass MONDO:0009744 neuronal ceroid lipofuscinosis 1 NCIT NCIT:C85861 one_to_one MONDO:0009744 neuronal ceroid lipofuscinosis 1 OMIM OMIM:256730 one_to_one MONDO:0009744 neuronal ceroid lipofuscinosis 1 Orphanet Orphanet:228329 one_to_one +MONDO:0009744 neuronal ceroid lipofuscinosis 1 http http://identifiers.org/hgnc/9325 disease_has_basis_in_dysfunction_of MONDO:0009745 neuronal ceroid lipofuscinosis 5 DOID DOID:0110728 one_to_one MONDO:0009745 neuronal ceroid lipofuscinosis 5 GARD GARD:0001223 one_to_one MONDO:0009745 neuronal ceroid lipofuscinosis 5 ICD10 ICD10:E75.4 inexact MONDO:0009745 neuronal ceroid lipofuscinosis 5 MESH MESH:C575534 one_to_one -MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO MONDO:0015674 subclass +MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO MONDO:0015674,MONDO:0016295 subclass MONDO:0009745 neuronal ceroid lipofuscinosis 5 OMIM OMIM:256731 one_to_one MONDO:0009745 neuronal ceroid lipofuscinosis 5 Orphanet Orphanet:228360 one_to_one +MONDO:0009745 neuronal ceroid lipofuscinosis 5 http http://identifiers.org/hgnc/2076 disease_has_basis_in_dysfunction_of MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 DOID DOID:0070146 one_to_one MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 GARD GARD:0003006,GARD:3006 inexact MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 ICD10 ICD10:G60.8 inexact -MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO MONDO:0015366 subclass +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 MONDO MONDO:0015364,MONDO:0015366 subclass MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 NCIT NCIT:C118633 one_to_one MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 OMIM OMIM:256800 one_to_one MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 Orphanet Orphanet:642 one_to_one MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 SCTID SCTID:62985007 one_to_one MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 UMLS UMLS:C0020074 one_to_one +MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 http http://identifiers.org/hgnc/8031 disease_has_basis_in_dysfunction_of MONDO:0009746 hereditary sensory and autonomic neuropathy type 4 url url:https://www.ncbi.nlm.nih.gov/pubmed/14272277,url:https://www.ncbi.nlm.nih.gov/pubmed/8696348 inexact MONDO:0009747 Navajo neurohepatopathy DOID DOID:0080125 one_to_one MONDO:0009747 Navajo neurohepatopathy GARD GARD:0003972 one_to_one @@ -56853,6 +58152,7 @@ MONDO:0009747 Navajo neurohepatopathy MESH MESH:C538344 one_to_one MONDO:0009747 Navajo neurohepatopathy MONDO MONDO:0016808 subclass MONDO:0009747 Navajo neurohepatopathy OMIM OMIM:256810 one_to_one MONDO:0009747 Navajo neurohepatopathy Orphanet Orphanet:255229 one_to_one +MONDO:0009747 Navajo neurohepatopathy http http://identifiers.org/hgnc/7224 disease_has_basis_in_dysfunction_of MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia ICD10 ICD10:G60.8 inexact MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MESH MESH:C564948 one_to_one MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia MONDO MONDO:0015089,MONDO:0015366 subclass @@ -56860,12 +58160,14 @@ MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegi MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia Orphanet Orphanet:139578 one_to_one MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia SCTID SCTID:717827000 one_to_one MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia UMLS UMLS:C1850395,UMLS:C4303565 inexact +MONDO:0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia http http://identifiers.org/hgnc/1618 disease_has_basis_in_dysfunction_of MONDO:0009749 giant axonal neuropathy 1 DOID DOID:0090068 one_to_one MONDO:0009749 giant axonal neuropathy 1 GARD GARD:0006500 one_to_one MONDO:0009749 giant axonal neuropathy 1 ICD10 ICD10:G60.8 inexact MONDO:0009749 giant axonal neuropathy 1 MONDO MONDO:0000128,MONDO:0020127 subclass MONDO:0009749 giant axonal neuropathy 1 OMIM OMIM:256850 one_to_one MONDO:0009749 giant axonal neuropathy 1 Orphanet Orphanet:643 one_to_one +MONDO:0009749 giant axonal neuropathy 1 http http://identifiers.org/hgnc/4137 disease_has_basis_in_dysfunction_of MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive MESH MESH:C564947 one_to_one MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive MONDO MONDO:0003847 subclass MONDO:0009750 neuropathy, hereditary motor and sensory, with excessive myelin folding complex, autosomal recessive OMIM OMIM:256855 one_to_one @@ -56897,11 +58199,12 @@ MONDO:0009756 Niemann-Pick disease type A DOID DOID:0070111 one_to_one MONDO:0009756 Niemann-Pick disease type A GARD GARD:0007206 one_to_one MONDO:0009756 Niemann-Pick disease type A ICD10 ICD10:E75.2 inexact MONDO:0009756 Niemann-Pick disease type A MESH MESH:D052536 one_to_one -MONDO:0009756 Niemann-Pick disease type A MONDO MONDO:0001982,MONDO:0015123,MONDO:0015955,MONDO:0015984,MONDO:0018299,MONDO:0019058,MONDO:0020282 subclass +MONDO:0009756 Niemann-Pick disease type A MONDO MONDO:0001982,MONDO:0015653,MONDO:0015984,MONDO:0018299,MONDO:0019058,MONDO:0020282 subclass MONDO:0009756 Niemann-Pick disease type A NCIT NCIT:C126561 one_to_one MONDO:0009756 Niemann-Pick disease type A OMIM OMIM:257200 one_to_one MONDO:0009756 Niemann-Pick disease type A Orphanet Orphanet:77292 one_to_one MONDO:0009756 Niemann-Pick disease type A UMLS UMLS:C0268242 one_to_one +MONDO:0009756 Niemann-Pick disease type A http http://identifiers.org/hgnc/11120 disease_has_basis_in_dysfunction_of MONDO:0009757 Niemann-Pick disease, type C1 DOID DOID:0070113 one_to_one MONDO:0009757 Niemann-Pick disease, type C1 GARD GARD:0007207 one_to_one MONDO:0009757 Niemann-Pick disease, type C1 ICD10 ICD10:E75.2 inexact @@ -56910,15 +58213,17 @@ MONDO:0009757 Niemann-Pick disease, type C1 NCIT NCIT:C126864 one_to_one MONDO:0009757 Niemann-Pick disease, type C1 OMIM OMIM:257220 one_to_one MONDO:0009757 Niemann-Pick disease, type C1 SCTID SCTID:18927009 one_to_one MONDO:0009757 Niemann-Pick disease, type C1 UMLS UMLS:C3179455 one_to_one +MONDO:0009757 Niemann-Pick disease, type C1 http http://identifiers.org/hgnc/7897 disease_has_basis_in_dysfunction_of MONDO:0009758 congenital stationary night blindness 1B DOID DOID:0110865 one_to_one MONDO:0009758 congenital stationary night blindness 1B MONDO MONDO:0016293 subclass -MONDO:0009758 congenital stationary night blindness 1B NCBIGene NCBIGene:2916 disease_has_basis_in_dysfunction_of MONDO:0009758 congenital stationary night blindness 1B OMIM OMIM:257270 one_to_one MONDO:0009758 congenital stationary night blindness 1B UMLS UMLS:C1850362 one_to_one +MONDO:0009758 congenital stationary night blindness 1B http http://identifiers.org/hgnc/4598 disease_has_basis_in_dysfunction_of MONDO:0009759 mosaic variegated aneuploidy syndrome 1 DOID DOID:0080141 one_to_one MONDO:0009759 mosaic variegated aneuploidy syndrome 1 MONDO MONDO:0000141 subclass MONDO:0009759 mosaic variegated aneuploidy syndrome 1 OMIM OMIM:257300 one_to_one MONDO:0009759 mosaic variegated aneuploidy syndrome 1 UMLS UMLS:CN031748 one_to_one +MONDO:0009759 mosaic variegated aneuploidy syndrome 1 http http://identifiers.org/hgnc/1149 disease_has_basis_in_dysfunction_of MONDO:0009760 Norman-Roberts syndrome DOID DOID:0060902 one_to_one MONDO:0009760 Norman-Roberts syndrome GARD GARD:0003277 one_to_one MONDO:0009760 Norman-Roberts syndrome ICD10 ICD10:Q04.3 inexact @@ -56927,6 +58232,7 @@ MONDO:0009760 Norman-Roberts syndrome OMIM OMIM:257320 one_to_one MONDO:0009760 Norman-Roberts syndrome Orphanet Orphanet:89844 one_to_one MONDO:0009760 Norman-Roberts syndrome SCTID SCTID:717977003 one_to_one MONDO:0009760 Norman-Roberts syndrome UMLS UMLS:C0796089 one_to_one +MONDO:0009760 Norman-Roberts syndrome http http://identifiers.org/hgnc/9957 disease_has_basis_in_dysfunction_of MONDO:0009761 cystic hygroma GARD GARD:0006234 one_to_one MONDO:0009761 cystic hygroma ICD10 ICD10:D18.1 inexact MONDO:0009761 cystic hygroma ICDO ICDO:9173/0 one_to_one @@ -56985,9 +58291,9 @@ MONDO:0009769 oculo-palato-cerebral syndrome UMLS UMLS:C1850338 one_to_one MONDO:0009770 3MC syndrome 1 DOID DOID:0060575 one_to_one MONDO:0009770 3MC syndrome 1 EFO EFO:1001978 one_to_one MONDO:0009770 3MC syndrome 1 MONDO MONDO:0017398 subclass -MONDO:0009770 3MC syndrome 1 NCBIGene NCBIGene:5648 disease_has_basis_in_dysfunction_of 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 @@ -57007,6 +58313,7 @@ MONDO:0009773 odonto-onycho-dermal dysplasia OMIM OMIM:257980 one_to_one MONDO:0009773 odonto-onycho-dermal dysplasia Orphanet Orphanet:2721 one_to_one MONDO:0009773 odonto-onycho-dermal dysplasia SCTID SCTID:403762003 one_to_one MONDO:0009773 odonto-onycho-dermal dysplasia UMLS UMLS:C0796093 one_to_one +MONDO:0009773 odonto-onycho-dermal dysplasia http http://identifiers.org/hgnc/13829 disease_has_basis_in_dysfunction_of MONDO:0009774 cloacal exstrophy (disease) DOID DOID:0080175 one_to_one MONDO:0009774 cloacal exstrophy (disease) GARD GARD:0004080 one_to_one MONDO:0009774 cloacal exstrophy (disease) HP HP:0010475 one_to_one @@ -57022,8 +58329,8 @@ 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 NCBIGene NCBIGene:6295 disease_has_basis_in_dysfunction_of 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 MONDO:0009776 SPGF1 MONDO MONDO:0004983,MONDO:0018393 subclass MONDO:0009776 SPGF1 OMIM OMIM:258150 one_to_one @@ -57048,6 +58355,7 @@ MONDO:0009779 autosomal recessive omodysplasia MONDO MONDO:0006025,MONDO:0015958 MONDO:0009779 autosomal recessive omodysplasia OMIM OMIM:258315 one_to_one MONDO:0009779 autosomal recessive omodysplasia Orphanet Orphanet:93329 one_to_one MONDO:0009779 autosomal recessive omodysplasia UMLS UMLS:C1850318 one_to_one +MONDO:0009779 autosomal recessive omodysplasia http http://identifiers.org/hgnc/4454 disease_has_basis_in_dysfunction_of 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 @@ -57060,6 +58368,7 @@ MONDO:0009781 Onychotrichodysplasia and neutropenia GARD GARD:0010161 one_to_one MONDO:0009781 Onychotrichodysplasia and neutropenia MESH MESH:C537752 one_to_one MONDO:0009781 Onychotrichodysplasia and neutropenia MONDO MONDO:0003847 subclass MONDO:0009781 Onychotrichodysplasia and neutropenia OMIM OMIM:258360 one_to_one +MONDO:0009781 Onychotrichodysplasia and neutropenia Orphanet Orphanet:2739 one_to_one MONDO:0009781 Onychotrichodysplasia and neutropenia UMLS UMLS:C1850316 one_to_one MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis MESH MESH:C564927 one_to_one MONDO:0009782 ophthalmoplegia totalis with ptosis and miosis MONDO MONDO:0003847 subclass @@ -57069,6 +58378,7 @@ MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deleti MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 MONDO MONDO:0000090,MONDO:0016810 subclass MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 OMIM OMIM:258450 one_to_one MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 UMLS UMLS:C4225153 one_to_one +MONDO:0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 http http://identifiers.org/hgnc/9179 disease_has_basis_in_dysfunction_of MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria MESH MESH:C564925 one_to_one MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria MONDO MONDO:0003847 subclass MONDO:0009784 ophthalmoplegic neuromuscular disorder with abnormal mitochondria OMIM OMIM:258470 one_to_one @@ -57081,6 +58391,7 @@ MONDO:0009785 Opsismodysplasia OMIM OMIM:258480 one_to_one MONDO:0009785 Opsismodysplasia Orphanet Orphanet:2746 one_to_one MONDO:0009785 Opsismodysplasia SCTID SCTID:254068007 one_to_one MONDO:0009785 Opsismodysplasia UMLS UMLS:C0432219 one_to_one +MONDO:0009785 Opsismodysplasia http http://identifiers.org/hgnc/6080 disease_has_basis_in_dysfunction_of MONDO:0009786 OPA6 GARD GARD:0010200 one_to_one MONDO:0009786 OPA6 MESH MESH:C537127 one_to_one MONDO:0009786 OPA6 MONDO MONDO:0014753 subclass @@ -57094,11 +58405,13 @@ 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 MONDO:0009787 3-methylglutaconic aciduria type 3 UMLS UMLS:C0574084 one_to_one +MONDO:0009787 3-methylglutaconic aciduria type 3 http http://identifiers.org/hgnc/8142 disease_has_basis_in_dysfunction_of MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive MONDO MONDO:0010699 disease_shares_features_of MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive MONDO MONDO:0003847 subclass MONDO:0009788 optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive OMIM OMIM:258650 one_to_one MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to MONDO MONDO:0003847 subclass MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to OMIM OMIM:258660 one_to_one +MONDO:0009789 nonarteritic anterior ischemic optic neuropathy, susceptibility to http http://identifiers.org/hgnc/4439 disease_has_basis_in_dysfunction_of MONDO:0009790 Opticocochleodentate degeneration ICD9 ICD9:333.90 inexact MONDO:0009790 Opticocochleodentate degeneration MESH MESH:C563002 one_to_one MONDO:0009790 Opticocochleodentate degeneration MONDO MONDO:0003847 subclass @@ -57131,6 +58444,7 @@ MONDO:0009794 orofaciodigital syndrome IV OMIM OMIM:258860 one_to_one MONDO:0009794 orofaciodigital syndrome IV Orphanet Orphanet:2753 one_to_one MONDO:0009794 orofaciodigital syndrome IV SCTID SCTID:239031000 one_to_one MONDO:0009794 orofaciodigital syndrome IV UMLS UMLS:C0406727 one_to_one +MONDO:0009794 orofaciodigital syndrome IV http http://identifiers.org/hgnc/24519 disease_has_basis_in_dysfunction_of MONDO:0009795 orofaciodigital syndrome IX DOID DOID:0060382 one_to_one MONDO:0009795 orofaciodigital syndrome IX GARD GARD:0010520 one_to_one MONDO:0009795 orofaciodigital syndrome IX ICD10 ICD10:Q87.0 inexact @@ -57149,6 +58463,7 @@ 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 MONDO:0009796 gyrate atrophy UMLS UMLS:C0018425 one_to_one +MONDO:0009796 gyrate atrophy http http://identifiers.org/hgnc/8091 disease_has_basis_in_dysfunction_of MONDO:0009797 orotic aciduria DOID DOID:0050833 one_to_one MONDO:0009797 orotic aciduria GARD GARD:0005429 one_to_one MONDO:0009797 orotic aciduria ICD10 ICD10:E79.8 inexact @@ -57158,6 +58473,7 @@ MONDO:0009797 orotic aciduria NCIT NCIT:C98944 one_to_one MONDO:0009797 orotic aciduria OMIM OMIM:258900 one_to_one MONDO:0009797 orotic aciduria Orphanet Orphanet:30 one_to_one MONDO:0009797 orotic aciduria SCTID SCTID:47641009 one_to_one +MONDO:0009797 orotic aciduria http http://identifiers.org/hgnc/12563 disease_has_basis_in_dysfunction_of MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome GARD GARD:0004488 one_to_one MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome MESH MESH:C536420 one_to_one @@ -57165,6 +58481,7 @@ MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndro MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome OMIM OMIM:259050 one_to_one MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome Orphanet Orphanet:3042 one_to_one MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome UMLS UMLS:C0796121 one_to_one +MONDO:0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome http http://identifiers.org/hgnc/13503 disease_has_basis_in_dysfunction_of MONDO:0009799 pachydermoperiostosis GARD GARD:0007299 one_to_one MONDO:0009799 pachydermoperiostosis ICD10 ICD10:M89.4 inexact MONDO:0009799 pachydermoperiostosis MONDO MONDO:0015958,MONDO:0015960,MONDO:0016620,MONDO:0018798,MONDO:0019295 subclass @@ -57201,23 +58518,26 @@ MONDO:0009804 osteogenesis imperfecta type 3 OMIM OMIM:259420 one_to_one MONDO:0009804 osteogenesis imperfecta type 3 Orphanet Orphanet:216812 one_to_one MONDO:0009804 osteogenesis imperfecta type 3 SCTID SCTID:385483009 one_to_one MONDO:0009804 osteogenesis imperfecta type 3 UMLS UMLS:C0268362 one_to_one +MONDO:0009804 osteogenesis imperfecta type 3 http http://identifiers.org/hgnc/2197,http://identifiers.org/hgnc/2198 disease_has_basis_in_dysfunction_of MONDO:0009805 osteogenesis imperfecta type 9 DOID DOID:0110349 one_to_one MONDO:0009805 osteogenesis imperfecta type 9 GARD GARD:0010619 one_to_one MONDO:0009805 osteogenesis imperfecta type 9 ICD10 ICD10:Q78.0 inexact MONDO:0009805 osteogenesis imperfecta type 9 MESH MESH:C564921 one_to_one MONDO:0009805 osteogenesis imperfecta type 9 MONDO MONDO:0019019 subclass -MONDO:0009805 osteogenesis imperfecta type 9 NCBIGene NCBIGene:5479 disease_has_basis_in_dysfunction_of MONDO:0009805 osteogenesis imperfecta type 9 OMIM OMIM:259440 one_to_one +MONDO:0009805 osteogenesis imperfecta type 9 http http://identifiers.org/hgnc/9255 disease_has_basis_in_dysfunction_of MONDO:0009806 Bruck syndrome 1 GARD GARD:0001029 one_to_one MONDO:0009806 Bruck syndrome 1 MONDO MONDO:0017195 subclass MONDO:0009806 Bruck syndrome 1 OMIM OMIM:259450 one_to_one MONDO:0009806 Bruck syndrome 1 UMLS UMLS:C1850168 one_to_one +MONDO:0009806 Bruck syndrome 1 http http://identifiers.org/hgnc/18169 disease_has_basis_in_dysfunction_of 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) 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 @@ -57231,6 +58551,7 @@ MONDO:0009808 osteoid osteoma (disease) UMLS UMLS:C0029441 one_to_one MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy MONDO MONDO:0002254,MONDO:0018104,MONDO:0019410 subclass MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy NCIT NCIT:C123437 one_to_one MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy OMIM OMIM:259600 one_to_one +MONDO:0009809 multicentric osteolysis, nodulosis, and arthropathy http http://identifiers.org/hgnc/7166 disease_has_basis_in_dysfunction_of MONDO:0009810 autosomal recessive distal osteolysis syndrome GARD GARD:0004144,GARD:0004299 inexact MONDO:0009810 autosomal recessive distal osteolysis syndrome MESH MESH:C536052 one_to_one MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO MONDO:0019707 subclass @@ -57268,16 +58589,19 @@ MONDO:0009815 autosomal recessive osteopetrosis 1 GARD GARD:0002579 one_to_one MONDO:0009815 autosomal recessive osteopetrosis 1 MESH MESH:C564915 one_to_one MONDO:0009815 autosomal recessive osteopetrosis 1 MONDO MONDO:0019026 subclass MONDO:0009815 autosomal recessive osteopetrosis 1 OMIM OMIM:259700 one_to_one +MONDO:0009815 autosomal recessive osteopetrosis 1 http http://identifiers.org/hgnc/11647 disease_has_basis_in_dysfunction_of MONDO:0009816 autosomal recessive osteopetrosis 2 DOID DOID:0110943 one_to_one MONDO:0009816 autosomal recessive osteopetrosis 2 GARD GARD:0004157 one_to_one MONDO:0009816 autosomal recessive osteopetrosis 2 MESH MESH:C536059 one_to_one MONDO:0009816 autosomal recessive osteopetrosis 2 MONDO MONDO:0019026 subclass MONDO:0009816 autosomal recessive osteopetrosis 2 OMIM OMIM:259710 one_to_one +MONDO:0009816 autosomal recessive osteopetrosis 2 http http://identifiers.org/hgnc/11926 disease_has_basis_in_dysfunction_of MONDO:0009817 autosomal recessive osteopetrosis 5 DOID DOID:0110939 one_to_one MONDO:0009817 autosomal recessive osteopetrosis 5 GARD GARD:0004153 one_to_one MONDO:0009817 autosomal recessive osteopetrosis 5 MESH MESH:C566883 one_to_one -MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO MONDO:0010866 subclass +MONDO:0009817 autosomal recessive osteopetrosis 5 MONDO MONDO:0010866,MONDO:0017198 subclass MONDO:0009817 autosomal recessive osteopetrosis 5 OMIM OMIM:259720 one_to_one +MONDO:0009817 autosomal recessive osteopetrosis 5 http http://identifiers.org/hgnc/21652 disease_has_basis_in_dysfunction_of MONDO:0009818 autosomal recessive osteopetrosis 3 DOID DOID:0110941 one_to_one MONDO:0009818 autosomal recessive osteopetrosis 3 GARD GARD:0004154 one_to_one MONDO:0009818 autosomal recessive osteopetrosis 3 ICD10 ICD10:Q78.2 inexact @@ -57288,6 +58612,7 @@ MONDO:0009818 autosomal recessive osteopetrosis 3 NCIT NCIT:C118438 one_to_one MONDO:0009818 autosomal recessive osteopetrosis 3 OMIM OMIM:259730 one_to_one MONDO:0009818 autosomal recessive osteopetrosis 3 Orphanet Orphanet:2785 one_to_one MONDO:0009818 autosomal recessive osteopetrosis 3 SCTID SCTID:254122007 one_to_one +MONDO:0009818 autosomal recessive osteopetrosis 3 http http://identifiers.org/hgnc/1373 disease_has_basis_in_dysfunction_of MONDO:0009820 osteoporosis-pseudoglioma syndrome DOID DOID:0060849 one_to_one MONDO:0009820 osteoporosis-pseudoglioma syndrome GARD GARD:0004160 one_to_one MONDO:0009820 osteoporosis-pseudoglioma syndrome ICD10 ICD10:Q87.5 inexact @@ -57298,6 +58623,7 @@ MONDO:0009820 osteoporosis-pseudoglioma syndrome NCIT NCIT:C130998 one_to_one MONDO:0009820 osteoporosis-pseudoglioma syndrome OMIM OMIM:259770 one_to_one MONDO:0009820 osteoporosis-pseudoglioma syndrome Orphanet Orphanet:2788 one_to_one MONDO:0009820 osteoporosis-pseudoglioma syndrome UMLS UMLS:C0432252 one_to_one +MONDO:0009820 osteoporosis-pseudoglioma syndrome http http://identifiers.org/hgnc/6697 disease_has_basis_in_dysfunction_of MONDO:0009821 lethal osteosclerotic bone dysplasia GARD GARD:0000282 one_to_one MONDO:0009821 lethal osteosclerotic bone dysplasia ICD10 ICD10:Q78.2 inexact MONDO:0009821 lethal osteosclerotic bone dysplasia MESH MESH:C535282 one_to_one @@ -57305,6 +58631,7 @@ MONDO:0009821 lethal osteosclerotic bone dysplasia MONDO MONDO:0019702 subclass MONDO:0009821 lethal osteosclerotic bone dysplasia OMIM OMIM:259775 one_to_one MONDO:0009821 lethal osteosclerotic bone dysplasia Orphanet Orphanet:1832 one_to_one MONDO:0009821 lethal osteosclerotic bone dysplasia UMLS UMLS:C1850106 one_to_one +MONDO:0009821 lethal osteosclerotic bone dysplasia http http://identifiers.org/hgnc/22140 disease_has_basis_in_dysfunction_of MONDO:0009822 Otoonychoperoneal syndrome GARD GARD:0004170 one_to_one MONDO:0009822 Otoonychoperoneal syndrome ICD10 ICD10:Q87.5 inexact MONDO:0009822 Otoonychoperoneal syndrome ICD9 ICD9:759.89 inexact @@ -57324,6 +58651,7 @@ MONDO:0009823 primary hyperoxaluria type 1 OMIM OMIM:259900 one_to_one MONDO:0009823 primary hyperoxaluria type 1 Orphanet Orphanet:93598 one_to_one MONDO:0009823 primary hyperoxaluria type 1 SCTID SCTID:65520001 one_to_one MONDO:0009823 primary hyperoxaluria type 1 UMLS UMLS:C0268164 one_to_one +MONDO:0009823 primary hyperoxaluria type 1 http http://identifiers.org/hgnc/341 disease_has_basis_in_dysfunction_of MONDO:0009824 primary hyperoxaluria type 2 GARD GARD:0002836 one_to_one MONDO:0009824 primary hyperoxaluria type 2 ICD10 ICD10:E74.8 inexact MONDO:0009824 primary hyperoxaluria type 2 ICD9 ICD9:271.8 inexact @@ -57334,17 +58662,19 @@ MONDO:0009824 primary hyperoxaluria type 2 OMIM OMIM:260000 one_to_one MONDO:0009824 primary hyperoxaluria type 2 Orphanet Orphanet:93599 one_to_one MONDO:0009824 primary hyperoxaluria type 2 SCTID SCTID:40951006 one_to_one MONDO:0009824 primary hyperoxaluria type 2 UMLS UMLS:C0268165 one_to_one +MONDO:0009824 primary hyperoxaluria type 2 http http://identifiers.org/hgnc/4570 disease_has_basis_in_dysfunction_of MONDO:0009825 5-oxoprolinase deficiency (disease) GARD GARD:0005681 one_to_one MONDO:0009825 5-oxoprolinase deficiency (disease) GO GO:0017168 disease_has_basis_in_disruption_of MONDO:0009825 5-oxoprolinase deficiency (disease) HP HP:0040142 one_to_one MONDO:0009825 5-oxoprolinase deficiency (disease) ICD10 ICD10:E72.8 inexact MONDO:0009825 5-oxoprolinase deficiency (disease) ICD9 ICD9:270.8 inexact MONDO:0009825 5-oxoprolinase deficiency (disease) MESH MESH:C535322 one_to_one -MONDO:0009825 5-oxoprolinase deficiency (disease) MONDO MONDO:0019052,MONDO:0019241,MONDO:0021196 subclass +MONDO:0009825 5-oxoprolinase deficiency (disease) MONDO MONDO:0019052,MONDO:0019241,MONDO:0044976 subclass MONDO:0009825 5-oxoprolinase deficiency (disease) OMIM OMIM:260005 one_to_one MONDO:0009825 5-oxoprolinase deficiency (disease) Orphanet Orphanet:33572 one_to_one MONDO:0009825 5-oxoprolinase deficiency (disease) SCTID SCTID:26132002 one_to_one MONDO:0009825 5-oxoprolinase deficiency (disease) UMLS UMLS:C0268525 one_to_one +MONDO:0009825 5-oxoprolinase deficiency (disease) http http://identifiers.org/hgnc/8149 disease_has_basis_in_dysfunction_of MONDO:0009826 PA polymorphism of alpha-2-globulin MONDO MONDO:0003847 subclass MONDO:0009826 PA polymorphism of alpha-2-globulin OMIM OMIM:260100 one_to_one MONDO:0009827 pachyonychia congenita, autosomal recessive MESH MESH:C538094 one_to_one @@ -57369,6 +58699,7 @@ MONDO:0009830 parkinsonian-pyramidal syndrome MONDO MONDO:0017279 subclass MONDO:0009830 parkinsonian-pyramidal syndrome OMIM OMIM:260300 one_to_one MONDO:0009830 parkinsonian-pyramidal syndrome Orphanet Orphanet:171695 one_to_one MONDO:0009830 parkinsonian-pyramidal syndrome UMLS UMLS:C1850100 one_to_one +MONDO:0009830 parkinsonian-pyramidal syndrome http http://identifiers.org/hgnc/13586 disease_has_basis_in_dysfunction_of MONDO:0009831 malignant pancreatic neoplasm DOID DOID:1793 one_to_one MONDO:0009831 malignant pancreatic neoplasm EFO EFO:1000359 one_to_one MONDO:0009831 malignant pancreatic neoplasm HP HP:0001735,HP:0002027 disease_has_feature @@ -57397,6 +58728,7 @@ MONDO:0009833 Shwachman-Diamond syndrome NCIT NCIT:C61235 one_to_one MONDO:0009833 Shwachman-Diamond syndrome OMIMPS OMIMPS:260400 one_to_one MONDO:0009833 Shwachman-Diamond syndrome Orphanet Orphanet:811 one_to_one MONDO:0009833 Shwachman-Diamond syndrome SCTID SCTID:89454001 one_to_one +MONDO:0009833 Shwachman-Diamond syndrome http http://identifiers.org/hgnc/19440 disease_has_basis_in_dysfunction_of MONDO:0009834 pancreatic insufficiency, combined exocrine MESH MESH:C564907 one_to_one MONDO:0009834 pancreatic insufficiency, combined exocrine MONDO MONDO:0003847 subclass MONDO:0009834 pancreatic insufficiency, combined exocrine OMIM OMIM:260450 one_to_one @@ -57428,10 +58760,12 @@ MONDO:0009837 choroid plexus papilloma MONDO MONDO:0002363,MONDO:0044764 subclas MONDO:0009837 choroid plexus papilloma MedDRA MedDRA:10008777 one_to_one MONDO:0009837 choroid plexus papilloma NCIT NCIT:C3698 one_to_one MONDO:0009837 choroid plexus papilloma OMIM OMIM:260500 one_to_one +MONDO:0009837 choroid plexus papilloma ONCOTREE ONCOTREE:CPP one_to_one MONDO:0009837 choroid plexus papilloma Orphanet Orphanet:2807 one_to_one MONDO:0009837 choroid plexus papilloma SCTID SCTID:425868004 one_to_one MONDO:0009837 choroid plexus papilloma UBERON UBERON:0001886 disease_has_location MONDO:0009837 choroid plexus papilloma UMLS UMLS:C0205770 one_to_one +MONDO:0009837 choroid plexus papilloma http http://identifiers.org/hgnc/11998 disease_has_basis_in_dysfunction_of MONDO:0009838 Parana hard-skin syndrome GARD GARD:0002598 one_to_one MONDO:0009838 Parana hard-skin syndrome ICD10 ICD10:L91.8 one_to_one MONDO:0009838 Parana hard-skin syndrome MESH MESH:C564905 one_to_one @@ -57446,6 +58780,7 @@ MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome MESH MESH:C53 MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome MONDO MONDO:0020488 subclass MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome OMIM OMIM:260540 one_to_one MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome Orphanet Orphanet:240085 one_to_one +MONDO:0009839 progressive supranuclear palsy-parkinsonism syndrome http http://identifiers.org/hgnc/6893 disease_has_basis_in_dysfunction_of MONDO:0009840 Partington-Anderson syndrome MESH MESH:C536299 one_to_one MONDO:0009840 Partington-Anderson syndrome MONDO MONDO:0003847 subclass MONDO:0009840 Partington-Anderson syndrome OMIM OMIM:260555 one_to_one @@ -57458,6 +58793,7 @@ MONDO:0009841 peho syndrome MONDO MONDO:0004884,MONDO:0015650,MONDO:0015952,MOND MONDO:0009841 peho syndrome OMIM OMIM:260565 one_to_one MONDO:0009841 peho syndrome Orphanet Orphanet:2836 one_to_one MONDO:0009841 peho syndrome UMLS UMLS:C1850055 one_to_one +MONDO:0009841 peho syndrome http http://identifiers.org/hgnc/12309,http://identifiers.org/hgnc/25523 disease_has_basis_in_dysfunction_of MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain MESH MESH:C564899 one_to_one MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain MONDO MONDO:0003847 subclass MONDO:0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain OMIM OMIM:260570 one_to_one @@ -57466,14 +58802,16 @@ MONDO:0009843 hypomyelinating leukodystrophy 3 DOID DOID:0060790 one_to_one MONDO:0009843 hypomyelinating leukodystrophy 3 GARD GARD:0004266 one_to_one MONDO:0009843 hypomyelinating leukodystrophy 3 ICD10 ICD10:E75.2 inexact MONDO:0009843 hypomyelinating leukodystrophy 3 MESH MESH:C536319 one_to_one -MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO MONDO:0017226 subclass +MONDO:0009843 hypomyelinating leukodystrophy 3 MONDO MONDO:0017226,MONDO:0019046 subclass MONDO:0009843 hypomyelinating leukodystrophy 3 OMIM OMIM:260600 one_to_one MONDO:0009843 hypomyelinating leukodystrophy 3 Orphanet Orphanet:280293 one_to_one MONDO:0009843 hypomyelinating leukodystrophy 3 UMLS UMLS:C1850053 one_to_one +MONDO:0009843 hypomyelinating leukodystrophy 3 http http://identifiers.org/hgnc/10648 disease_has_basis_in_dysfunction_of MONDO:0009844 pellagra-like syndrome GARD GARD:0004267 one_to_one MONDO:0009844 pellagra-like syndrome MESH MESH:C538352 one_to_one MONDO:0009844 pellagra-like syndrome MONDO MONDO:0003847 subclass MONDO:0009844 pellagra-like syndrome OMIM OMIM:260650 one_to_one +MONDO:0009844 pellagra-like syndrome Orphanet Orphanet:2837 one_to_one MONDO:0009844 pellagra-like syndrome UMLS UMLS:C1850052 one_to_one MONDO:0009845 pelviscapular dysplasia GARD GARD:0001555 one_to_one MONDO:0009845 pelviscapular dysplasia ICD10 ICD10:Q87.5 inexact @@ -57483,6 +58821,7 @@ MONDO:0009845 pelviscapular dysplasia OMIM OMIM:260660 one_to_one MONDO:0009845 pelviscapular dysplasia Orphanet Orphanet:93333 one_to_one MONDO:0009845 pelviscapular dysplasia SCTID SCTID:719299009 one_to_one MONDO:0009845 pelviscapular dysplasia UMLS UMLS:C1850040 one_to_one +MONDO:0009845 pelviscapular dysplasia http http://identifiers.org/hgnc/11594 disease_has_basis_in_dysfunction_of MONDO:0009846 pentosuria GARD GARD:0000418 one_to_one MONDO:0009846 pentosuria ICD10 ICD10:E74.8 inexact MONDO:0009846 pentosuria ICD9 ICD9:271.8 inexact @@ -57493,6 +58832,7 @@ MONDO:0009846 pentosuria OMIM OMIM:260800 one_to_one MONDO:0009846 pentosuria Orphanet Orphanet:2843 one_to_one MONDO:0009846 pentosuria SCTID SCTID:190764000 one_to_one MONDO:0009846 pentosuria UMLS UMLS:C0268162 one_to_one +MONDO:0009846 pentosuria http http://identifiers.org/hgnc/18985 disease_has_basis_in_dysfunction_of MONDO:0009847 pericardial effusion, chronic MESH MESH:C564895 one_to_one MONDO:0009847 pericardial effusion, chronic MONDO MONDO:0001370,MONDO:0003847 subclass MONDO:0009847 pericardial effusion, chronic OMIM OMIM:260900 one_to_one @@ -57514,6 +58854,7 @@ MONDO:0009849 hyperimmunoglobulinemia d with periodic fever MONDO MONDO:0017369, MONDO:0009849 hyperimmunoglobulinemia d with periodic fever OMIM OMIM:260920 one_to_one MONDO:0009849 hyperimmunoglobulinemia d with periodic fever Orphanet Orphanet:343 one_to_one MONDO:0009849 hyperimmunoglobulinemia d with periodic fever UMLS UMLS:C0398691 one_to_one +MONDO:0009849 hyperimmunoglobulinemia d with periodic fever http http://identifiers.org/hgnc/7530 disease_has_basis_in_dysfunction_of MONDO:0009850 periodontitis, chronic, adult MONDO MONDO:0003847,MONDO:0005593 subclass MONDO:0009850 periodontitis, chronic, adult OMIM OMIM:260950 one_to_one MONDO:0009850 periodontitis, chronic, adult SCTID SCTID:74797001 one_to_one @@ -57533,6 +58874,7 @@ MONDO:0009852 congenital intrinsic factor deficiency MedDRA MedDRA:10070440 one_ MONDO:0009852 congenital intrinsic factor deficiency OMIM OMIM:261000 one_to_one MONDO:0009852 congenital intrinsic factor deficiency Orphanet Orphanet:332 one_to_one MONDO:0009852 congenital intrinsic factor deficiency SCTID SCTID:34925000 one_to_one +MONDO:0009852 congenital intrinsic factor deficiency http http://identifiers.org/hgnc/4268 disease_has_basis_in_dysfunction_of MONDO:0009853 Imerslund-Grasbeck syndrome GARD GARD:0007006 one_to_one MONDO:0009853 Imerslund-Grasbeck syndrome ICD10 ICD10:D51.1 inexact MONDO:0009853 Imerslund-Grasbeck syndrome ICD9 ICD9:281.3 inexact @@ -57541,6 +58883,7 @@ MONDO:0009853 Imerslund-Grasbeck syndrome NCIT NCIT:C131677 one_to_one MONDO:0009853 Imerslund-Grasbeck syndrome OMIM OMIM:261100 one_to_one MONDO:0009853 Imerslund-Grasbeck syndrome Orphanet Orphanet:35858 one_to_one MONDO:0009853 Imerslund-Grasbeck syndrome SCTID SCTID:360495000 one_to_one +MONDO:0009853 Imerslund-Grasbeck syndrome http http://identifiers.org/hgnc/14604,http://identifiers.org/hgnc/2548 disease_has_basis_in_dysfunction_of MONDO:0009854 peroneus tertius muscle, absence of MONDO MONDO:0003847 subclass MONDO:0009854 peroneus tertius muscle, absence of OMIM OMIM:261400 one_to_one MONDO:0009855 d-bifunctional protein deficiency DOID DOID:0090031 one_to_one @@ -57553,6 +58896,7 @@ MONDO:0009855 d-bifunctional protein deficiency OMIM OMIM:261515 one_to_one MONDO:0009855 d-bifunctional protein deficiency Orphanet Orphanet:300 one_to_one MONDO:0009855 d-bifunctional protein deficiency SCTID SCTID:238068007 one_to_one MONDO:0009855 d-bifunctional protein deficiency UMLS UMLS:C0342870,UMLS:C1533628,UMLS:CN203333 inexact +MONDO:0009855 d-bifunctional protein deficiency http http://identifiers.org/hgnc/5213 disease_has_basis_in_dysfunction_of MONDO:0009856 Peters plus syndrome DOID DOID:0080201 one_to_one MONDO:0009856 Peters plus syndrome GARD GARD:0008422 one_to_one MONDO:0009856 Peters plus syndrome ICD10 ICD10:Q13.4 inexact @@ -57564,6 +58908,7 @@ MONDO:0009856 Peters plus syndrome OMIM OMIM:261540 one_to_one MONDO:0009856 Peters plus syndrome Orphanet Orphanet:709 one_to_one MONDO:0009856 Peters plus syndrome SCTID SCTID:449817000 one_to_one MONDO:0009856 Peters plus syndrome UMLS UMLS:C0796012 one_to_one +MONDO:0009856 Peters plus syndrome http http://identifiers.org/hgnc/20207 disease_has_basis_in_dysfunction_of MONDO:0009857 persistent Mullerian duct syndrome DOID DOID:0050791 one_to_one MONDO:0009857 persistent Mullerian duct syndrome GARD GARD:0008435 one_to_one MONDO:0009857 persistent Mullerian duct syndrome ICD10 ICD10:Q55.8 inexact @@ -57575,6 +58920,7 @@ MONDO:0009857 persistent Mullerian duct syndrome OMIM OMIM:261550 one_to_one MONDO:0009857 persistent Mullerian duct syndrome Orphanet Orphanet:2856 one_to_one MONDO:0009857 persistent Mullerian duct syndrome SCTID SCTID:702358005 one_to_one MONDO:0009857 persistent Mullerian duct syndrome UMLS UMLS:C1849930 one_to_one +MONDO:0009857 persistent Mullerian duct syndrome http http://identifiers.org/hgnc/464,http://identifiers.org/hgnc/465 disease_has_basis_in_dysfunction_of 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 @@ -57596,13 +58942,14 @@ MONDO:0009861 phenylketonuria GARD GARD:0007383 one_to_one MONDO:0009861 phenylketonuria ICD10 ICD10:E70.0,ICD10:E70.1 inexact MONDO:0009861 phenylketonuria ICD9 ICD9:270.1 one_to_one MONDO:0009861 phenylketonuria MESH MESH:D010661 one_to_one -MONDO:0009861 phenylketonuria MONDO MONDO:0006025,MONDO:0015955,MONDO:0016399,MONDO:0017306,MONDO:0019058 subclass +MONDO:0009861 phenylketonuria MONDO MONDO:0006025,MONDO:0015653,MONDO:0016399,MONDO:0017306,MONDO:0019058 subclass MONDO:0009861 phenylketonuria MedDRA MedDRA:10034872 one_to_one MONDO:0009861 phenylketonuria NCIT NCIT:C81315 one_to_one MONDO:0009861 phenylketonuria OMIM OMIM:261600 one_to_one MONDO:0009861 phenylketonuria Orphanet Orphanet:716 one_to_one MONDO:0009861 phenylketonuria SCTID SCTID:7573000 one_to_one MONDO:0009861 phenylketonuria UMLS UMLS:C0031485 one_to_one +MONDO:0009861 phenylketonuria http http://identifiers.org/hgnc/8582 disease_has_basis_in_dysfunction_of MONDO:0009862 dihydropteridine reductase deficiency GARD GARD:0004319 one_to_one MONDO:0009862 dihydropteridine reductase deficiency ICD10 ICD10:E70.1 inexact MONDO:0009862 dihydropteridine reductase deficiency MONDO MONDO:0016543 subclass @@ -57610,6 +58957,7 @@ MONDO:0009862 dihydropteridine reductase deficiency NCIT NCIT:C138173 one_to_one MONDO:0009862 dihydropteridine reductase deficiency OMIM OMIM:261630 one_to_one MONDO:0009862 dihydropteridine reductase deficiency Orphanet Orphanet:226 one_to_one MONDO:0009862 dihydropteridine reductase deficiency SCTID SCTID:58256000 one_to_one +MONDO:0009862 dihydropteridine reductase deficiency http http://identifiers.org/hgnc/9752 disease_has_basis_in_dysfunction_of MONDO:0009863 BH4-deficient hyperphenylalaninemia A DOID DOID:0090106 one_to_one MONDO:0009863 BH4-deficient hyperphenylalaninemia A GARD GARD:0005682,GARD:5682 inexact MONDO:0009863 BH4-deficient hyperphenylalaninemia A ICD10 ICD10:E70.1 inexact @@ -57619,11 +58967,13 @@ MONDO:0009863 BH4-deficient hyperphenylalaninemia A NCIT NCIT:C138171 one_to_one MONDO:0009863 BH4-deficient hyperphenylalaninemia A OMIM OMIM:261640 one_to_one MONDO:0009863 BH4-deficient hyperphenylalaninemia A Orphanet Orphanet:13 one_to_one MONDO:0009863 BH4-deficient hyperphenylalaninemia A UMLS UMLS:C0878676 one_to_one +MONDO:0009863 BH4-deficient hyperphenylalaninemia A http http://identifiers.org/hgnc/9689 disease_has_basis_in_dysfunction_of MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial GARD GARD:0004279 one_to_one MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial MESH MESH:C564890 one_to_one MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial MONDO MONDO:0017320 subclass MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial OMIM OMIM:261650 one_to_one MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial UMLS UMLS:C1849821 one_to_one +MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial http http://identifiers.org/hgnc/8725 disease_has_basis_in_dysfunction_of 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 @@ -57632,18 +58982,20 @@ MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency 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 MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency SCTID SCTID:61772003 one_to_one +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency http http://identifiers.org/hgnc/8889 disease_has_basis_in_dysfunction_of MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic GARD GARD:0004278 one_to_one MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic MONDO MONDO:0017320 subclass MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic OMIM OMIM:261680 one_to_one +MONDO:0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic http http://identifiers.org/hgnc/8724 disease_has_basis_in_dysfunction_of MONDO:0009867 lethal congenital glycogen storage disease of heart DOID DOID:0090101 one_to_one MONDO:0009867 lethal congenital glycogen storage disease of heart GARD GARD:0010728 one_to_one MONDO:0009867 lethal congenital glycogen storage disease of heart ICD10 ICD10:E74.0+,ICD10:G73.6* inexact MONDO:0009867 lethal congenital glycogen storage disease of heart MESH MESH:C564888 one_to_one MONDO:0009867 lethal congenital glycogen storage disease of heart MONDO MONDO:0002412,MONDO:0010946,MONDO:0016325 subclass -MONDO:0009867 lethal congenital glycogen storage disease of heart NCBIGene NCBIGene:51422 disease_has_basis_in_dysfunction_of MONDO:0009867 lethal congenital glycogen storage disease of heart OMIM OMIM:261740 one_to_one MONDO:0009867 lethal congenital glycogen storage disease of heart Orphanet Orphanet:439854 one_to_one MONDO:0009867 lethal congenital glycogen storage disease of heart UMLS UMLS:C1849813 one_to_one +MONDO:0009867 lethal congenital glycogen storage disease of heart http http://identifiers.org/hgnc/9386 disease_has_basis_in_dysfunction_of 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 @@ -57651,6 +59003,7 @@ MONDO:0009868 glycogen storage disease IXb MONDO MONDO:0000366,MONDO:0015115,MON 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 +MONDO:0009868 glycogen storage disease IXb http http://identifiers.org/hgnc/8927 disease_has_basis_in_dysfunction_of MONDO:0009869 isolated Pierre-Robin syndrome GARD GARD:0004347,GARD:0004354 inexact MONDO:0009869 isolated Pierre-Robin syndrome HP HP:0000201 disease_has_feature MONDO:0009869 isolated Pierre-Robin syndrome ICD10 ICD10:Q87.0 inexact @@ -57683,6 +59036,7 @@ MONDO:0009872 Bjornstad syndrome MONDO MONDO:0006025,MONDO:0015960,MONDO:0017718 MONDO:0009872 Bjornstad syndrome OMIM OMIM:262000 one_to_one MONDO:0009872 Bjornstad syndrome Orphanet Orphanet:123 one_to_one MONDO:0009872 Bjornstad syndrome UMLS UMLS:C0266006 one_to_one +MONDO:0009872 Bjornstad syndrome http http://identifiers.org/hgnc/1020 disease_has_basis_in_dysfunction_of MONDO:0009873 pilodental dysplasia-refractive errors syndrome GARD GARD:0000277 one_to_one MONDO:0009873 pilodental dysplasia-refractive errors syndrome MESH MESH:C535763 one_to_one MONDO:0009873 pilodental dysplasia-refractive errors syndrome MONDO MONDO:0015336,MONDO:0019287 subclass @@ -57698,12 +59052,13 @@ MONDO:0009874 Rabson-Mendenhall syndrome OMIM OMIM:262190 one_to_one MONDO:0009874 Rabson-Mendenhall syndrome Orphanet Orphanet:769 one_to_one MONDO:0009874 Rabson-Mendenhall syndrome SCTID SCTID:33559001 one_to_one MONDO:0009874 Rabson-Mendenhall syndrome UMLS UMLS:C0271695 one_to_one +MONDO:0009874 Rabson-Mendenhall syndrome http http://identifiers.org/hgnc/6091 disease_has_basis_in_dysfunction_of MONDO:0009875 achromatopsia 3 DOID DOID:0110008 one_to_one MONDO:0009875 achromatopsia 3 GARD GARD:0009650 one_to_one MONDO:0009875 achromatopsia 3 MONDO MONDO:0018852 subclass -MONDO:0009875 achromatopsia 3 NCBIGene NCBIGene:54714 disease_has_basis_in_dysfunction_of MONDO:0009875 achromatopsia 3 OMIM OMIM:262300 one_to_one MONDO:0009875 achromatopsia 3 UMLS UMLS:C1849792 one_to_one +MONDO:0009875 achromatopsia 3 http http://identifiers.org/hgnc/2153 disease_has_basis_in_dysfunction_of MONDO:0009876 isolated growth hormone deficiency type IA DOID DOID:0060873 one_to_one MONDO:0009876 isolated growth hormone deficiency type IA GARD GARD:0007399 one_to_one MONDO:0009876 isolated growth hormone deficiency type IA ICD10 ICD10:E23.0 inexact @@ -57713,6 +59068,7 @@ MONDO:0009876 isolated growth hormone deficiency type IA MONDO MONDO:0000050 sub MONDO:0009876 isolated growth hormone deficiency type IA OMIM OMIM:262400 one_to_one MONDO:0009876 isolated growth hormone deficiency type IA Orphanet Orphanet:231662 one_to_one MONDO:0009876 isolated growth hormone deficiency type IA SCTID SCTID:237837007 one_to_one +MONDO:0009876 isolated growth hormone deficiency type IA http http://identifiers.org/hgnc/4261 disease_has_basis_in_dysfunction_of MONDO:0009877 Laron syndrome DOID DOID:9521 one_to_one MONDO:0009877 Laron syndrome GARD GARD:0006859 one_to_one MONDO:0009877 Laron syndrome ICD10 ICD10:E34.3 inexact @@ -57722,9 +59078,11 @@ MONDO:0009877 Laron syndrome NCIT NCIT:C130994 one_to_one MONDO:0009877 Laron syndrome OMIM OMIM:262500 one_to_one MONDO:0009877 Laron syndrome Orphanet Orphanet:633 one_to_one MONDO:0009877 Laron syndrome SCTID SCTID:38196001 one_to_one -MONDO:0009878 pituitary hormone deficiency, combined, 2 MONDO MONDO:0019591 subclass +MONDO:0009877 Laron syndrome http http://identifiers.org/hgnc/4263 disease_has_basis_in_dysfunction_of +MONDO:0009878 pituitary hormone deficiency, combined, 2 MONDO MONDO:0013099,MONDO:0019591 subclass MONDO:0009878 pituitary hormone deficiency, combined, 2 OMIM OMIM:262600 one_to_one MONDO:0009878 pituitary hormone deficiency, combined, 2 UMLS UMLS:C0878683 one_to_one +MONDO:0009878 pituitary hormone deficiency, combined, 2 http http://identifiers.org/hgnc/9455 disease_has_basis_in_dysfunction_of MONDO:0009879 short stature due to growth hormone qualitative anomaly GARD GARD:0000408 one_to_one MONDO:0009879 short stature due to growth hormone qualitative anomaly ICD10 ICD10:E23.0 inexact MONDO:0009879 short stature due to growth hormone qualitative anomaly MESH MESH:C537505 one_to_one @@ -57732,12 +59090,14 @@ MONDO:0009879 short stature due to growth hormone qualitative anomaly MONDO MOND MONDO:0009879 short stature due to growth hormone qualitative anomaly OMIM OMIM:262650 one_to_one MONDO:0009879 short stature due to growth hormone qualitative anomaly Orphanet Orphanet:629 one_to_one MONDO:0009879 short stature due to growth hormone qualitative anomaly UMLS UMLS:C1849779 one_to_one +MONDO:0009879 short stature due to growth hormone qualitative anomaly http http://identifiers.org/hgnc/4261 disease_has_basis_in_dysfunction_of MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome GARD GARD:0010604 one_to_one MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MESH MESH:C567492 one_to_one MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome MONDO MONDO:0013099,MONDO:0019827 subclass MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome OMIM OMIM:262700 one_to_one MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome Orphanet Orphanet:85442 one_to_one MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome UMLS UMLS:C2678408 one_to_one +MONDO:0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome http http://identifiers.org/hgnc/21734 disease_has_basis_in_dysfunction_of MONDO:0009881 pituitary dwarfism with large sella turcica GARD GARD:0010607 one_to_one MONDO:0009881 pituitary dwarfism with large sella turcica ICD9 ICD9:253.8 inexact MONDO:0009881 pituitary dwarfism with large sella turcica MESH MESH:C562705 one_to_one @@ -57758,6 +59118,7 @@ MONDO:0009883 alpha-2-plasmin inhibitor deficiency OMIM OMIM:262850 one_to_one MONDO:0009883 alpha-2-plasmin inhibitor deficiency Orphanet Orphanet:79 one_to_one MONDO:0009883 alpha-2-plasmin inhibitor deficiency SCTID SCTID:716746003 one_to_one MONDO:0009883 alpha-2-plasmin inhibitor deficiency UMLS UMLS:C2752081 one_to_one +MONDO:0009883 alpha-2-plasmin inhibitor deficiency http http://identifiers.org/hgnc/9075 disease_has_basis_in_dysfunction_of MONDO:0009884 platelet prostacyclin receptor defect MESH MESH:C564884 one_to_one MONDO:0009884 platelet prostacyclin receptor defect MONDO MONDO:0003847 subclass MONDO:0009884 platelet prostacyclin receptor defect OMIM OMIM:262875 one_to_one @@ -57771,6 +59132,7 @@ MONDO:0009885 Scott syndrome OMIM OMIM:262890 one_to_one MONDO:0009885 Scott syndrome Orphanet Orphanet:806 one_to_one MONDO:0009885 Scott syndrome SCTID SCTID:128098009 one_to_one MONDO:0009885 Scott syndrome UMLS UMLS:C0796149 one_to_one +MONDO:0009885 Scott syndrome http http://identifiers.org/hgnc/25240 disease_has_basis_in_dysfunction_of MONDO:0009886 pleoconial myopathy with salt craving GARD GARD:0010318 one_to_one MONDO:0009886 pleoconial myopathy with salt craving MESH MESH:C564883 one_to_one MONDO:0009886 pleoconial myopathy with salt craving MONDO MONDO:0003847 subclass @@ -57801,6 +59163,7 @@ MONDO:0009889 autosomal recessive polycystic kidney disease NCIT NCIT:C84579 one MONDO:0009889 autosomal recessive polycystic kidney disease Orphanet Orphanet:731 one_to_one MONDO:0009889 autosomal recessive polycystic kidney disease SCTID SCTID:28770003 one_to_one MONDO:0009889 autosomal recessive polycystic kidney disease UMLS UMLS:C0085548 one_to_one +MONDO:0009889 autosomal recessive polycystic kidney disease http http://identifiers.org/hgnc/9016 disease_has_basis_in_dysfunction_of MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome MESH MESH:C564881 one_to_one MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome MONDO MONDO:0012117 subclass MONDO:0009890 Gillessen-Kaesbach-Nishimura syndrome OMIM OMIM:263210 one_to_one @@ -57820,6 +59183,7 @@ MONDO:0009891 polycythemia vera OMIM OMIM:263300 one_to_one MONDO:0009891 polycythemia vera ONCOTREE ONCOTREE:PV one_to_one MONDO:0009891 polycythemia vera Orphanet Orphanet:729 one_to_one MONDO:0009891 polycythemia vera UMLS UMLS:C0032463 one_to_one +MONDO:0009891 polycythemia vera http http://identifiers.org/hgnc/6192 disease_has_basis_in_dysfunction_of MONDO:0009892 Chuvash polycythemia DOID DOID:0060474 one_to_one MONDO:0009892 Chuvash polycythemia ICD10 ICD10:D75.1 inexact MONDO:0009892 Chuvash polycythemia MESH MESH:C563918 one_to_one @@ -57827,6 +59191,7 @@ MONDO:0009892 Chuvash polycythemia MONDO MONDO:0001115,MONDO:0016540 subclass MONDO:0009892 Chuvash polycythemia OMIM OMIM:263400 one_to_one MONDO:0009892 Chuvash polycythemia Orphanet Orphanet:238557 one_to_one MONDO:0009892 Chuvash polycythemia UMLS UMLS:C1837915 one_to_one +MONDO:0009892 Chuvash polycythemia http http://identifiers.org/hgnc/12687 disease_has_basis_in_dysfunction_of MONDO:0009893 polydactyly, postaxial, type A5 MONDO MONDO:0019673 subclass MONDO:0009893 polydactyly, postaxial, type A5 OMIM OMIM:263450 one_to_one MONDO:0009893 polydactyly, postaxial, type A5 UMLS UMLS:C3550661 one_to_one @@ -57835,6 +59200,7 @@ MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly ICD10 I MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly MONDO MONDO:0018770,MONDO:0019662 subclass MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly NCIT NCIT:C122654 one_to_one MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly OMIM OMIM:263520 one_to_one +MONDO:0009894 short-rib thoracic dysplasia 6 with or without polydactyly http http://identifiers.org/hgnc/7744 disease_has_basis_in_dysfunction_of MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome ICD10 ICD10:Q87.2 inexact MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MESH MESH:C564880 one_to_one MONDO:0009895 postaxial polydactyly-dental and vertebral anomalies syndrome MONDO MONDO:0015336,MONDO:0015960 subclass @@ -57874,6 +59240,7 @@ MONDO:0009901 Bartsocas-Papas syndrome OMIM OMIM:263650 one_to_one MONDO:0009901 Bartsocas-Papas syndrome Orphanet Orphanet:1234 one_to_one MONDO:0009901 Bartsocas-Papas syndrome SCTID SCTID:722376008 one_to_one MONDO:0009901 Bartsocas-Papas syndrome UMLS UMLS:C1849718 one_to_one +MONDO:0009901 Bartsocas-Papas syndrome http http://identifiers.org/hgnc/496 disease_has_basis_in_dysfunction_of MONDO:0009902 cutaneous porphyria DOID DOID:13271 one_to_one MONDO:0009902 cutaneous porphyria GARD GARD:0004446 one_to_one MONDO:0009902 cutaneous porphyria ICD10 ICD10:E80.0 inexact @@ -57883,6 +59250,7 @@ MONDO:0009902 cutaneous porphyria NCIT NCIT:C84697 one_to_one MONDO:0009902 cutaneous porphyria OMIM OMIM:263700 one_to_one MONDO:0009902 cutaneous porphyria Orphanet Orphanet:79277 one_to_one MONDO:0009902 cutaneous porphyria SCTID SCTID:67312003 one_to_one +MONDO:0009902 cutaneous porphyria http http://identifiers.org/hgnc/12592 disease_has_basis_in_dysfunction_of MONDO:0009903 postaxial acrofacial dysostosis GARD GARD:0008410 one_to_one MONDO:0009903 postaxial acrofacial dysostosis ICD10 ICD10:Q75.4 inexact MONDO:0009903 postaxial acrofacial dysostosis ICD9 ICD9:759.89 inexact @@ -57892,6 +59260,7 @@ MONDO:0009903 postaxial acrofacial dysostosis OMIM OMIM:263750 one_to_one MONDO:0009903 postaxial acrofacial dysostosis Orphanet Orphanet:246 one_to_one MONDO:0009903 postaxial acrofacial dysostosis SCTID SCTID:66038001 one_to_one MONDO:0009903 postaxial acrofacial dysostosis UMLS UMLS:C0265257 one_to_one +MONDO:0009903 postaxial acrofacial dysostosis http http://identifiers.org/hgnc/2867 disease_has_basis_in_dysfunction_of MONDO:0009904 Gitelman syndrome DOID DOID:0050450 one_to_one MONDO:0009904 Gitelman syndrome GARD GARD:0008547 one_to_one MONDO:0009904 Gitelman syndrome ICD10 ICD10:N15.8 inexact @@ -57904,6 +59273,7 @@ MONDO:0009904 Gitelman syndrome OMIM OMIM:263800 one_to_one MONDO:0009904 Gitelman syndrome Orphanet Orphanet:358 one_to_one MONDO:0009904 Gitelman syndrome SCTID SCTID:707756004 one_to_one MONDO:0009904 Gitelman syndrome UMLS UMLS:C0268450 one_to_one +MONDO:0009904 Gitelman syndrome http http://identifiers.org/hgnc/10912 disease_has_basis_in_dysfunction_of 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 @@ -57927,10 +59297,12 @@ MONDO:0009908 dehydratase deficiency MONDO MONDO:0016543 subclass MONDO:0009908 dehydratase deficiency OMIM OMIM:264070 one_to_one MONDO:0009908 dehydratase deficiency Orphanet Orphanet:1578 one_to_one MONDO:0009908 dehydratase deficiency SCTID SCTID:124646004 one_to_one +MONDO:0009908 dehydratase deficiency http http://identifiers.org/hgnc/8646 disease_has_basis_in_dysfunction_of MONDO:0009909 progesterone resistance MESH MESH:C564871 one_to_one MONDO:0009909 progesterone resistance MONDO MONDO:0003847 subclass MONDO:0009909 progesterone resistance OMIM OMIM:264080 one_to_one MONDO:0009909 progesterone resistance UMLS UMLS:C1849699 one_to_one +MONDO:0009909 progesterone resistance http http://identifiers.org/hgnc/8910 disease_has_basis_in_dysfunction_of 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 @@ -57978,12 +59350,14 @@ MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid de MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency OMIM OMIM:264300 one_to_one MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Orphanet Orphanet:752 one_to_one MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency SCTID SCTID:50658006 one_to_one +MONDO:0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency http http://identifiers.org/hgnc/5212 disease_has_basis_in_dysfunction_of MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 DOID DOID:0060854 one_to_one MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 GARD GARD:0004552 one_to_one MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 ICD10 ICD10:N25.8 inexact MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 MONDO MONDO:0019161 subclass MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 OMIM OMIM:264350 one_to_one MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 Orphanet Orphanet:171876 one_to_one +MONDO:0009917 autosomal recessive pseudohypoaldosteronism type 1 http http://identifiers.org/hgnc/10599,http://identifiers.org/hgnc/10600,http://identifiers.org/hgnc/10602 disease_has_basis_in_dysfunction_of MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form GARD GARD:0009633 one_to_one MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form MESH MESH:C535828 one_to_one MONDO:0009918 fundus dystrophy, pseudoinflammatory, recessive form MONDO MONDO:0007640 subclass @@ -57999,6 +59373,7 @@ MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency OMIM OMIM:264470 one_to_on MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency Orphanet Orphanet:2971 one_to_one MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency SCTID SCTID:238069004 one_to_one MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency UMLS UMLS:C1849678 one_to_one +MONDO:0009919 peroxisomal acyl-CoA oxidase deficiency http http://identifiers.org/hgnc/119 disease_has_basis_in_dysfunction_of MONDO:0009920 Acrootoocular syndrome ICD10 ICD10:Q87.0 inexact MONDO:0009920 Acrootoocular syndrome MESH MESH:C564866 one_to_one MONDO:0009920 Acrootoocular syndrome MONDO MONDO:0015218,MONDO:0020169 subclass @@ -58028,6 +59403,7 @@ MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 defic MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency OMIM OMIM:264600 one_to_one MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Orphanet Orphanet:753 one_to_one MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency SCTID SCTID:57514000 one_to_one +MONDO:0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency http http://identifiers.org/hgnc/11285 disease_has_basis_in_dysfunction_of MONDO:0009924 vitamin D-dependent rickets, type 1 ICD10 ICD10:E55.0 inexact MONDO:0009924 vitamin D-dependent rickets, type 1 MESH MESH:C562688 one_to_one MONDO:0009924 vitamin D-dependent rickets, type 1 MONDO MONDO:0017323,MONDO:0024299 subclass @@ -58036,6 +59412,7 @@ MONDO:0009924 vitamin D-dependent rickets, type 1 OMIM OMIM:264700 one_to_one MONDO:0009924 vitamin D-dependent rickets, type 1 Orphanet Orphanet:289157 one_to_one MONDO:0009924 vitamin D-dependent rickets, type 1 SCTID SCTID:67049004 one_to_one MONDO:0009924 vitamin D-dependent rickets, type 1 UMLS UMLS:C0268689 one_to_one +MONDO:0009924 vitamin D-dependent rickets, type 1 http http://identifiers.org/hgnc/2606 disease_has_basis_in_dysfunction_of MONDO:0009925 inherited pseudoxanthoma elasticum DOID DOID:2738 one_to_one MONDO:0009925 inherited pseudoxanthoma elasticum GARD GARD:0009643 one_to_one MONDO:0009925 inherited pseudoxanthoma elasticum ICD10 ICD10:Q82.8 inexact @@ -58049,6 +59426,7 @@ MONDO:0009925 inherited pseudoxanthoma elasticum OMIM OMIM:264800 one_to_one MONDO:0009925 inherited pseudoxanthoma elasticum Orphanet Orphanet:758 one_to_one MONDO:0009925 inherited pseudoxanthoma elasticum SCTID SCTID:402782006,SCTID:72744008 inexact MONDO:0009925 inherited pseudoxanthoma elasticum UMLS UMLS:C0033847 one_to_one +MONDO:0009925 inherited pseudoxanthoma elasticum http http://identifiers.org/hgnc/15516,http://identifiers.org/hgnc/15517,http://identifiers.org/hgnc/57 disease_has_basis_in_dysfunction_of MONDO:0009926 autosomal recessive multiple pterygium syndrome GARD GARD:0007111 one_to_one MONDO:0009926 autosomal recessive multiple pterygium syndrome HP HP:0000007 has_modifier MONDO:0009926 autosomal recessive multiple pterygium syndrome ICD10 ICD10:Q79.8 inexact @@ -58059,12 +59437,13 @@ MONDO:0009926 autosomal recessive multiple pterygium syndrome OMIM OMIM:265000 o MONDO:0009926 autosomal recessive multiple pterygium syndrome Orphanet Orphanet:2990 one_to_one MONDO:0009926 autosomal recessive multiple pterygium syndrome SCTID SCTID:80773006 one_to_one MONDO:0009926 autosomal recessive multiple pterygium syndrome UMLS UMLS:CN203342 one_to_one +MONDO:0009926 autosomal recessive multiple pterygium syndrome http http://identifiers.org/hgnc/1967 disease_has_basis_in_dysfunction_of MONDO:0009927 3MC syndrome 2 DOID DOID:0060576 one_to_one MONDO:0009927 3MC syndrome 2 EFO EFO:1001977 one_to_one MONDO:0009927 3MC syndrome 2 MESH MESH:C535586 one_to_one MONDO:0009927 3MC syndrome 2 MONDO MONDO:0017398 subclass -MONDO:0009927 3MC syndrome 2 NCBIGene NCBIGene:78989 disease_has_basis_in_dysfunction_of MONDO:0009927 3MC syndrome 2 OMIM OMIM:265050 one_to_one +MONDO:0009927 3MC syndrome 2 http http://identifiers.org/hgnc/17213 disease_has_basis_in_dysfunction_of MONDO:0009928 pulmonary alveolar microlithiasis COHD COHD:437906 one_to_one MONDO:0009928 pulmonary alveolar microlithiasis DOID DOID:12117 one_to_one MONDO:0009928 pulmonary alveolar microlithiasis GARD GARD:0011894 one_to_one @@ -58077,6 +59456,7 @@ MONDO:0009928 pulmonary alveolar microlithiasis OMIM OMIM:265100 one_to_one MONDO:0009928 pulmonary alveolar microlithiasis Orphanet Orphanet:60025 one_to_one MONDO:0009928 pulmonary alveolar microlithiasis SCTID SCTID:87153008 one_to_one MONDO:0009928 pulmonary alveolar microlithiasis UMLS UMLS:C0155912 one_to_one +MONDO:0009928 pulmonary alveolar microlithiasis http http://identifiers.org/hgnc/11020 disease_has_basis_in_dysfunction_of MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency GARD GARD:0004595 one_to_one MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency ICD10 ICD10:P28.0 inexact MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency MESH MESH:C566882 one_to_one @@ -58084,6 +59464,7 @@ MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency MONDO M MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency OMIM OMIM:265120 one_to_one MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency Orphanet Orphanet:217563 one_to_one MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency UMLS UMLS:C1968602 one_to_one +MONDO:0009929 neonatal acute respiratory distress due to SP-B deficiency http http://identifiers.org/hgnc/10801 disease_has_basis_in_dysfunction_of MONDO:0009930 pulmonary arteriovenous malformation (disease) COHD COHD:4119302 one_to_one MONDO:0009930 pulmonary arteriovenous malformation (disease) GARD GARD:0004584 one_to_one MONDO:0009930 pulmonary arteriovenous malformation (disease) HP HP:0006548 one_to_one @@ -58132,6 +59513,7 @@ MONDO:0009934 congenital alveolar capillary dysplasia OMIM OMIM:265380 one_to_on MONDO:0009934 congenital alveolar capillary dysplasia Orphanet Orphanet:210122 one_to_one MONDO:0009934 congenital alveolar capillary dysplasia SCTID SCTID:447275002 one_to_one MONDO:0009934 congenital alveolar capillary dysplasia UMLS UMLS:C0031190 one_to_one +MONDO:0009934 congenital alveolar capillary dysplasia http http://identifiers.org/hgnc/3809 disease_has_basis_in_dysfunction_of MONDO:0009935 pulmonary hypertension, primary, autosomal recessive MESH MESH:C564862 one_to_one MONDO:0009935 pulmonary hypertension, primary, autosomal recessive MONDO MONDO:0008347 subclass MONDO:0009935 pulmonary hypertension, primary, autosomal recessive OMIM OMIM:265400 one_to_one @@ -58155,6 +59537,7 @@ MONDO:0009937 pulmonary venoocclusive disease OMIMPS OMIMPS:265450 one_to_one MONDO:0009937 pulmonary venoocclusive disease Orphanet Orphanet:31837 one_to_one MONDO:0009937 pulmonary venoocclusive disease SCTID SCTID:89420002 one_to_one MONDO:0009937 pulmonary venoocclusive disease UMLS UMLS:C0034091 one_to_one +MONDO:0009937 pulmonary venoocclusive disease http http://identifiers.org/hgnc/1078 disease_has_basis_in_dysfunction_of MONDO:0009938 pulmonic stenosis (disease) GARD GARD:0010071 one_to_one MONDO:0009938 pulmonic stenosis (disease) HP HP:0001642 one_to_one MONDO:0009938 pulmonic stenosis (disease) MONDO MONDO:0003847,MONDO:0016229,MONDO:0017865,MONDO:0020029 subclass @@ -58176,6 +59559,7 @@ MONDO:0009940 pycnodysostosis OMIM OMIM:265800 one_to_one MONDO:0009940 pycnodysostosis Orphanet Orphanet:763 one_to_one MONDO:0009940 pycnodysostosis SCTID SCTID:89647000 one_to_one MONDO:0009940 pycnodysostosis UMLS UMLS:C0238402 one_to_one +MONDO:0009940 pycnodysostosis http http://identifiers.org/hgnc/2536 disease_has_basis_in_dysfunction_of MONDO:0009941 Pygmy MONDO MONDO:0003847 subclass MONDO:0009941 Pygmy OMIM OMIM:265850 one_to_one MONDO:0009941 Pygmy UMLS UMLS:C1849524 one_to_one @@ -58193,6 +59577,7 @@ MONDO:0009943 Pyle disease MESH MESH:C536252 one_to_one MONDO:0009943 Pyle disease MONDO MONDO:0019703 subclass MONDO:0009943 Pyle disease OMIM OMIM:265900 one_to_one MONDO:0009943 Pyle disease Orphanet Orphanet:3005 one_to_one +MONDO:0009943 Pyle disease http http://identifiers.org/hgnc/10778 disease_has_basis_in_dysfunction_of MONDO:0009944 pyloric atresia ICD9 ICD9:750.7 inexact MONDO:0009944 pyloric atresia MESH MESH:C562561 one_to_one MONDO:0009944 pyloric atresia MONDO MONDO:0003847 subclass @@ -58205,18 +59590,21 @@ MONDO:0009945 pyridoxine-dependent epilepsy MONDO MONDO:0015955,MONDO:0016404,MO 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 +MONDO:0009945 pyridoxine-dependent epilepsy http http://identifiers.org/hgnc/877 disease_has_basis_in_dysfunction_of MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ICD10 ICD10:D55.3 inexact MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MESH MESH:C564859 one_to_one MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency MONDO MONDO:0003689,MONDO:0019238,MONDO:0020107 subclass MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency OMIM OMIM:266120 one_to_one MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Orphanet Orphanet:35120 one_to_one MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency UMLS UMLS:C1849507 one_to_one +MONDO:0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency http http://identifiers.org/hgnc/17820 disease_has_basis_in_dysfunction_of MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria ICD10 ICD10:D55.1 inexact MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria ICD9 ICD9:270.8 inexact MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria MONDO MONDO:0017909 subclass MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria OMIM OMIM:266130 one_to_one MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria Orphanet Orphanet:289846 one_to_one MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria SCTID SCTID:39112005 one_to_one +MONDO:0009947 glutathione synthetase deficiency with 5-oxoprolinuria http http://identifiers.org/hgnc/4624 disease_has_basis_in_dysfunction_of MONDO:0009948 pyropoikilocytosis, hereditary GARD GARD:0004619 one_to_one MONDO:0009948 pyropoikilocytosis, hereditary ICD9 ICD9:790.09 one_to_one MONDO:0009948 pyropoikilocytosis, hereditary MESH MESH:C563004 one_to_one @@ -58224,6 +59612,7 @@ MONDO:0009948 pyropoikilocytosis, hereditary MONDO MONDO:0003847 subclass MONDO:0009948 pyropoikilocytosis, hereditary NCIT NCIT:C98943 one_to_one MONDO:0009948 pyropoikilocytosis, hereditary OMIM OMIM:266140 one_to_one MONDO:0009948 pyropoikilocytosis, hereditary SCTID SCTID:9434008 one_to_one +MONDO:0009948 pyropoikilocytosis, hereditary http http://identifiers.org/hgnc/11272 disease_has_basis_in_dysfunction_of MONDO:0009949 pyruvate carboxylase deficiency disease DOID DOID:3651 one_to_one MONDO:0009949 pyruvate carboxylase deficiency disease EFO EFO:1001142 one_to_one MONDO:0009949 pyruvate carboxylase deficiency disease GARD GARD:0007512 one_to_one @@ -58236,6 +59625,7 @@ MONDO:0009949 pyruvate carboxylase deficiency disease OMIM OMIM:266150 one_to_on MONDO:0009949 pyruvate carboxylase deficiency disease Orphanet Orphanet:3008 one_to_one MONDO:0009949 pyruvate carboxylase deficiency disease SCTID SCTID:87694001 one_to_one MONDO:0009949 pyruvate carboxylase deficiency disease UMLS UMLS:C0034341,UMLS:C2931141,UMLS:CN203409 inexact +MONDO:0009949 pyruvate carboxylase deficiency disease http http://identifiers.org/hgnc/8636 disease_has_basis_in_dysfunction_of MONDO:0009950 pyruvate kinase deficiency of red cells DOID DOID:0111077 one_to_one MONDO:0009950 pyruvate kinase deficiency of red cells GARD GARD:0007514 one_to_one MONDO:0009950 pyruvate kinase deficiency of red cells ICD10 ICD10:D55.2 inexact @@ -58245,6 +59635,7 @@ MONDO:0009950 pyruvate kinase deficiency of red cells NCIT NCIT:C99037 one_to_on MONDO:0009950 pyruvate kinase deficiency of red cells OMIM OMIM:266200 one_to_one MONDO:0009950 pyruvate kinase deficiency of red cells Orphanet Orphanet:766 one_to_one MONDO:0009950 pyruvate kinase deficiency of red cells UMLS UMLS:C0340968 one_to_one +MONDO:0009950 pyruvate kinase deficiency of red cells http http://identifiers.org/hgnc/9020 disease_has_basis_in_dysfunction_of MONDO:0009951 Radiculoneuropathy, fatal neonatal MESH MESH:C564857 one_to_one MONDO:0009951 Radiculoneuropathy, fatal neonatal MONDO MONDO:0003847 subclass MONDO:0009951 Radiculoneuropathy, fatal neonatal OMIM OMIM:266250 one_to_one @@ -58265,6 +59656,7 @@ MONDO:0009953 leukocyte adhesion deficiency type II OMIM OMIM:266265 one_to_one MONDO:0009953 leukocyte adhesion deficiency type II Orphanet Orphanet:99843 one_to_one MONDO:0009953 leukocyte adhesion deficiency type II SCTID SCTID:234583001 one_to_one MONDO:0009953 leukocyte adhesion deficiency type II UMLS UMLS:C0398739 one_to_one +MONDO:0009953 leukocyte adhesion deficiency type II http http://identifiers.org/hgnc/20197 disease_has_basis_in_dysfunction_of MONDO:0009954 Ramon syndrome GARD GARD:0007523 one_to_one MONDO:0009954 Ramon syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009954 Ramon syndrome MESH MESH:C535285 one_to_one @@ -58282,6 +59674,7 @@ MONDO:0009955 rapadilino syndrome OMIM OMIM:266280 one_to_one MONDO:0009955 rapadilino syndrome Orphanet Orphanet:3021 one_to_one MONDO:0009955 rapadilino syndrome SCTID SCTID:702413000 one_to_one MONDO:0009955 rapadilino syndrome UMLS UMLS:C1849453 one_to_one +MONDO:0009955 rapadilino syndrome http http://identifiers.org/hgnc/9949 disease_has_basis_in_dysfunction_of MONDO:0009956 red skin pigment anomaly of new guinea GARD GARD:0009757 one_to_one MONDO:0009956 red skin pigment anomaly of new guinea MESH MESH:C535515 one_to_one MONDO:0009956 red skin pigment anomaly of new guinea MONDO MONDO:0003847 subclass @@ -58303,17 +59696,19 @@ MONDO:0009958 adult Refsum disease MedDRA MedDRA:10038275 one_to_one MONDO:0009958 adult Refsum disease OMIM OMIM:266500 one_to_one MONDO:0009958 adult Refsum disease Orphanet Orphanet:773 one_to_one MONDO:0009958 adult Refsum disease SCTID SCTID:25362006 one_to_one +MONDO:0009958 adult Refsum disease http http://identifiers.org/hgnc/8860,http://identifiers.org/hgnc/8940 disease_has_basis_in_dysfunction_of MONDO:0009959 peroxisome biogenesis disorder type 3B DOID DOID:0050444 one_to_one MONDO:0009959 peroxisome biogenesis disorder type 3B ICD10 ICD10:G60.1 inexact MONDO:0009959 peroxisome biogenesis disorder type 3B MONDO MONDO:0018598,MONDO:0019174 subclass MONDO:0009959 peroxisome biogenesis disorder type 3B OMIM OMIM:266510 one_to_one +MONDO:0009959 peroxisome biogenesis disorder type 3B http http://identifiers.org/hgnc/8854 disease_has_basis_in_dysfunction_of MONDO:0009960 inflammatory bowel disease 1 DOID DOID:0110892 one_to_one MONDO:0009960 inflammatory bowel disease 1 GARD GARD:0009857 one_to_one MONDO:0009960 inflammatory bowel disease 1 ICD9 ICD9:555.9 one_to_one MONDO:0009960 inflammatory bowel disease 1 MONDO MONDO:0005265 subclass -MONDO:0009960 inflammatory bowel disease 1 NCBIGene NCBIGene:3569,NCBIGene:64127 disease_has_basis_in_dysfunction_of MONDO:0009960 inflammatory bowel disease 1 OMIM OMIM:266600 one_to_one MONDO:0009960 inflammatory bowel disease 1 SCTID SCTID:34000006 one_to_one +MONDO:0009960 inflammatory bowel disease 1 http http://identifiers.org/hgnc/5331,http://identifiers.org/hgnc/6018 disease_has_basis_in_dysfunction_of MONDO:0009961 renal and mullerian duct hypoplasia MESH MESH:C564853 one_to_one MONDO:0009961 renal and mullerian duct hypoplasia MONDO MONDO:0003847 subclass MONDO:0009961 renal and mullerian duct hypoplasia OMIM OMIM:266810 one_to_one @@ -58322,6 +59717,7 @@ MONDO:0009962 Senior-Loken syndrome 1 ICD9 ICD9:759.89 inexact MONDO:0009962 Senior-Loken syndrome 1 MONDO MONDO:0017842 subclass MONDO:0009962 Senior-Loken syndrome 1 OMIM OMIM:266900 one_to_one MONDO:0009962 Senior-Loken syndrome 1 SCTID SCTID:236531005 one_to_one +MONDO:0009962 Senior-Loken syndrome 1 http http://identifiers.org/hgnc/7905 disease_has_basis_in_dysfunction_of 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 @@ -58336,6 +59732,7 @@ MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly ICD9 IC MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly MONDO MONDO:0015373 subclass MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly OMIM OMIM:266920 one_to_one MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly SCTID SCTID:254092004 one_to_one +MONDO:0009964 short-rib thoracic dysplasia 9 with or without polydactyly http http://identifiers.org/hgnc/29077 disease_has_basis_in_dysfunction_of MONDO:0009965 Perlman syndrome DOID DOID:0060476 one_to_one MONDO:0009965 Perlman syndrome GARD GARD:0003936 one_to_one MONDO:0009965 Perlman syndrome ICD10 ICD10:Q87.3 inexact @@ -58346,6 +59743,7 @@ MONDO:0009965 Perlman syndrome OMIM OMIM:267000 one_to_one MONDO:0009965 Perlman syndrome Orphanet Orphanet:2849 one_to_one MONDO:0009965 Perlman syndrome SCTID SCTID:722231005 one_to_one MONDO:0009965 Perlman syndrome UMLS UMLS:C0796113 one_to_one +MONDO:0009965 Perlman syndrome http http://identifiers.org/hgnc/28648 disease_has_basis_in_dysfunction_of MONDO:0009966 NPHP3-related Meckel-like syndrome DOID DOID:0070121 one_to_one MONDO:0009966 NPHP3-related Meckel-like syndrome GARD GARD:0004665 one_to_one MONDO:0009966 NPHP3-related Meckel-like syndrome ICD10 ICD10:Q61.9 inexact @@ -58354,6 +59752,7 @@ MONDO:0009966 NPHP3-related Meckel-like syndrome MONDO MONDO:0017121,MONDO:00189 MONDO:0009966 NPHP3-related Meckel-like syndrome OMIM OMIM:267010 one_to_one MONDO:0009966 NPHP3-related Meckel-like syndrome Orphanet Orphanet:3032 one_to_one MONDO:0009966 NPHP3-related Meckel-like syndrome UMLS UMLS:C2673885 one_to_one +MONDO:0009966 NPHP3-related Meckel-like syndrome http http://identifiers.org/hgnc/7907 disease_has_basis_in_dysfunction_of MONDO:0009966 NPHP3-related Meckel-like syndrome url url:https://www.ncbi.nlm.nih.gov/pubmed/18371931 one_to_one MONDO:0009967 renal tubular acidosis 3 GARD GARD:0004670 one_to_one MONDO:0009967 renal tubular acidosis 3 MESH MESH:C537759 one_to_one @@ -58367,6 +59766,7 @@ MONDO:0009968 renal tubular acidosis, distal, with progressive nerve deafness MO MONDO:0009968 renal tubular acidosis, distal, with progressive nerve deafness OMIM OMIM:267300 one_to_one MONDO:0009968 renal tubular acidosis, distal, with progressive nerve deafness SCTID SCTID:236532003,SCTID:722468005 inexact MONDO:0009968 renal tubular acidosis, distal, with progressive nerve deafness UMLS UMLS:C0403554,UMLS:C4302514 inexact +MONDO:0009968 renal tubular acidosis, distal, with progressive nerve deafness http http://identifiers.org/hgnc/853 disease_has_basis_in_dysfunction_of MONDO:0009969 renal-genital-middle ear anomalies GARD GARD:0004664 one_to_one MONDO:0009969 renal-genital-middle ear anomalies ICD10 ICD10:Q87.8 inexact MONDO:0009969 renal-genital-middle ear anomalies MESH MESH:C564849 one_to_one @@ -58379,6 +59779,7 @@ MONDO:0009970 renal tubular dysgenesis of genetic origin MONDO MONDO:0021150 has MONDO:0009970 renal tubular dysgenesis of genetic origin MONDO MONDO:0015960,MONDO:0017609,MONDO:0020030 subclass MONDO:0009970 renal tubular dysgenesis of genetic origin OMIM OMIM:267430 one_to_one MONDO:0009970 renal tubular dysgenesis of genetic origin Orphanet Orphanet:97369 one_to_one +MONDO:0009970 renal tubular dysgenesis of genetic origin http http://identifiers.org/hgnc/2707,http://identifiers.org/hgnc/333,http://identifiers.org/hgnc/336,http://identifiers.org/hgnc/9958 disease_has_basis_in_dysfunction_of MONDO:0009971 newborn respiratory distress syndrome DOID DOID:12716 one_to_one MONDO:0009971 newborn respiratory distress syndrome EFO EFO:1000644 one_to_one MONDO:0009971 newborn respiratory distress syndrome GARD GARD:0000112 one_to_one @@ -58404,6 +59805,7 @@ MONDO:0009973 reticular dysgenesis OMIM OMIM:267500 one_to_one MONDO:0009973 reticular dysgenesis Orphanet Orphanet:33355 one_to_one MONDO:0009973 reticular dysgenesis SCTID SCTID:111584000 one_to_one MONDO:0009973 reticular dysgenesis UMLS UMLS:C0272167 one_to_one +MONDO:0009973 reticular dysgenesis http http://identifiers.org/hgnc/362 disease_has_basis_in_dysfunction_of MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 DOID DOID:0110921 one_to_one MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 ICD10 ICD10:D76.1 inexact MONDO:0009974 familial hemophagocytic lymphohistiocytosis type 1 MONDO MONDO:0015144,MONDO:0015541,MONDO:0019117 subclass @@ -58435,6 +59837,7 @@ MONDO:0009977 Knobloch syndrome OMIM OMIM:267750 one_to_one MONDO:0009977 Knobloch syndrome Orphanet Orphanet:1571 one_to_one MONDO:0009977 Knobloch syndrome SCTID SCTID:703542000 one_to_one MONDO:0009977 Knobloch syndrome UMLS UMLS:C1849409 one_to_one +MONDO:0009977 Knobloch syndrome http http://identifiers.org/hgnc/2195 disease_has_basis_in_dysfunction_of MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome GARD GARD:0000395 one_to_one MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome ICD10 ICD10:H35.5 inexact MONDO:0009978 retinal degeneration-nanophthalmos-glaucoma syndrome MESH MESH:C538364 one_to_one @@ -58503,6 +59906,7 @@ MONDO:0009989 enhanced S-cone syndrome OMIM OMIM:268100 one_to_one MONDO:0009989 enhanced S-cone syndrome Orphanet Orphanet:53540 one_to_one MONDO:0009989 enhanced S-cone syndrome SCTID SCTID:232065000 one_to_one MONDO:0009989 enhanced S-cone syndrome UMLS UMLS:C1849394 one_to_one +MONDO:0009989 enhanced S-cone syndrome http http://identifiers.org/hgnc/7974 disease_has_basis_in_dysfunction_of 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 @@ -58510,10 +59914,12 @@ MONDO:0009990 Revesz syndrome MONDO MONDO:0004589,MONDO:0015780,MONDO:0021231 su 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 +MONDO:0009990 Revesz syndrome http http://identifiers.org/hgnc/11824 disease_has_basis_in_dysfunction_of MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive MESH MESH:C564832 one_to_one MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive MONDO MONDO:0000866,MONDO:0020504 subclass MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive OMIM OMIM:268200 one_to_one MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive UMLS UMLS:C1849386 one_to_one +MONDO:0009992 myoglobinuria, acute recurrent, autosomal recessive http http://identifiers.org/hgnc/13345 disease_has_basis_in_dysfunction_of MONDO:0009993 embryonal rhabdomyosarcoma (disease) DOID DOID:3246 one_to_one MONDO:0009993 embryonal rhabdomyosarcoma (disease) EFO EFO:0000437 one_to_one MONDO:0009993 embryonal rhabdomyosarcoma (disease) GARD GARD:0004702 one_to_one @@ -58529,6 +59935,7 @@ MONDO:0009993 embryonal rhabdomyosarcoma (disease) ONCOTREE ONCOTREE:ERMS one_to MONDO:0009993 embryonal rhabdomyosarcoma (disease) Orphanet Orphanet:99757 one_to_one MONDO:0009993 embryonal rhabdomyosarcoma (disease) SCTID SCTID:404051002 one_to_one MONDO:0009993 embryonal rhabdomyosarcoma (disease) UMLS UMLS:C0206656 one_to_one +MONDO:0009993 embryonal rhabdomyosarcoma (disease) http http://identifiers.org/hgnc/10964 disease_has_basis_in_dysfunction_of MONDO:0009994 alveolar rhabdomyosarcoma (disease) DOID DOID:4051 one_to_one MONDO:0009994 alveolar rhabdomyosarcoma (disease) EFO EFO:0000248 one_to_one MONDO:0009994 alveolar rhabdomyosarcoma (disease) GARD GARD:0004701 one_to_one @@ -58545,6 +59952,7 @@ MONDO:0009994 alveolar rhabdomyosarcoma (disease) ONCOTREE ONCOTREE:ARMS one_to_ MONDO:0009994 alveolar rhabdomyosarcoma (disease) Orphanet Orphanet:99756 one_to_one MONDO:0009994 alveolar rhabdomyosarcoma (disease) SCTID SCTID:404053004 one_to_one MONDO:0009994 alveolar rhabdomyosarcoma (disease) UMLS UMLS:C0206655 one_to_one +MONDO:0009994 alveolar rhabdomyosarcoma (disease) http http://identifiers.org/hgnc/3819,http://identifiers.org/hgnc/8617,http://identifiers.org/hgnc/8621 disease_has_basis_in_dysfunction_of MONDO:0009995 rheumatic fever-related antigen MONDO MONDO:0017767 subclass MONDO:0009995 rheumatic fever-related antigen OMIM OMIM:268240 one_to_one MONDO:0009996 rhizomelic syndrome, Urbach type GARD GARD:0004705 one_to_one @@ -58563,6 +59971,7 @@ 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 MONDO:0009997 Roberts syndrome SCTID SCTID:48718006 one_to_one +MONDO:0009997 Roberts syndrome http http://identifiers.org/hgnc/27230 disease_has_basis_in_dysfunction_of MONDO:0009998 Richieri Costa-Pereira syndrome GARD GARD:0004718 one_to_one MONDO:0009998 Richieri Costa-Pereira syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009998 Richieri Costa-Pereira syndrome MESH MESH:C535677 one_to_one @@ -58570,6 +59979,7 @@ MONDO:0009998 Richieri Costa-Pereira syndrome MONDO MONDO:0015335,MONDO:0015958, MONDO:0009998 Richieri Costa-Pereira syndrome OMIM OMIM:268305 one_to_one MONDO:0009998 Richieri Costa-Pereira syndrome Orphanet Orphanet:3102 one_to_one MONDO:0009998 Richieri Costa-Pereira syndrome UMLS UMLS:C1849348 one_to_one +MONDO:0009998 Richieri Costa-Pereira syndrome http http://identifiers.org/hgnc/18683 disease_has_basis_in_dysfunction_of MONDO:0009999 autosomal recessive Robinow syndrome DOID DOID:0060764 one_to_one MONDO:0009999 autosomal recessive Robinow syndrome HP HP:0000007 has_modifier MONDO:0009999 autosomal recessive Robinow syndrome ICD10 ICD10:Q87.1 inexact @@ -58578,6 +59988,7 @@ MONDO:0009999 autosomal recessive Robinow syndrome MONDO MONDO:0006025,MONDO:001 MONDO:0009999 autosomal recessive Robinow syndrome OMIM OMIM:268310 one_to_one MONDO:0009999 autosomal recessive Robinow syndrome Orphanet Orphanet:1507 one_to_one MONDO:0009999 autosomal recessive Robinow syndrome UMLS UMLS:C1849334 one_to_one +MONDO:0009999 autosomal recessive Robinow syndrome http http://identifiers.org/hgnc/10257 disease_has_basis_in_dysfunction_of MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction MESH MESH:C564829 one_to_one MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction MONDO MONDO:0003847 subclass MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM OMIM:268315 one_to_one @@ -58600,6 +60011,7 @@ MONDO:0010002 Rothmund-Thomson syndrome OMIM OMIM:268400 one_to_one MONDO:0010002 Rothmund-Thomson syndrome Orphanet Orphanet:2909 one_to_one MONDO:0010002 Rothmund-Thomson syndrome SCTID SCTID:69093006 one_to_one MONDO:0010002 Rothmund-Thomson syndrome UMLS UMLS:C0032339 one_to_one +MONDO:0010002 Rothmund-Thomson syndrome http http://identifiers.org/hgnc/9949 disease_has_basis_in_dysfunction_of MONDO:0010003 Rowley-Rosenberg syndrome GARD GARD:0008556 one_to_one MONDO:0010003 Rowley-Rosenberg syndrome MESH MESH:C535874 one_to_one MONDO:0010003 Rowley-Rosenberg syndrome MONDO MONDO:0003847 subclass @@ -58625,6 +60037,7 @@ MONDO:0010005 Saccharopinuria OMIM OMIM:268700 one_to_one MONDO:0010005 Saccharopinuria Orphanet Orphanet:3124 one_to_one MONDO:0010005 Saccharopinuria SCTID SCTID:111397004 one_to_one MONDO:0010005 Saccharopinuria UMLS UMLS:C0268556 one_to_one +MONDO:0010005 Saccharopinuria http http://identifiers.org/hgnc/17366 disease_has_basis_in_dysfunction_of MONDO:0010006 Sandhoff disease DOID DOID:3323 one_to_one MONDO:0010006 Sandhoff disease GARD GARD:0002521,GARD:0007604 inexact MONDO:0010006 Sandhoff disease ICD10 ICD10:E75.0,ICD10:E75.01 inexact @@ -58635,6 +60048,7 @@ MONDO:0010006 Sandhoff disease OMIM OMIM:268800 one_to_one MONDO:0010006 Sandhoff disease Orphanet Orphanet:796 one_to_one MONDO:0010006 Sandhoff disease SCTID SCTID:23849003 one_to_one 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 @@ -58651,6 +60065,7 @@ MONDO:0010008 sarcosinemia OMIM OMIM:268900 one_to_one MONDO:0010008 sarcosinemia Orphanet Orphanet:3129 one_to_one MONDO:0010008 sarcosinemia SCTID SCTID:64852002 one_to_one MONDO:0010008 sarcosinemia UMLS UMLS:C0268563 one_to_one +MONDO:0010008 sarcosinemia http http://identifiers.org/hgnc/10536 disease_has_basis_in_dysfunction_of MONDO:0010009 SC phocomelia syndrome DOID DOID:0050536 one_to_one MONDO:0010009 SC phocomelia syndrome MONDO MONDO:0009997,MONDO:0015356 subclass MONDO:0010009 SC phocomelia syndrome NCIT NCIT:C4681 one_to_one @@ -58666,6 +60081,7 @@ MONDO:0010010 Schinzel-Giedion syndrome OMIM OMIM:269150 one_to_one MONDO:0010010 Schinzel-Giedion syndrome Orphanet Orphanet:798 one_to_one MONDO:0010010 Schinzel-Giedion syndrome SCTID SCTID:18899000 one_to_one MONDO:0010010 Schinzel-Giedion syndrome UMLS UMLS:C0265227 one_to_one +MONDO:0010010 Schinzel-Giedion syndrome http http://identifiers.org/hgnc/15573 disease_has_basis_in_dysfunction_of 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 @@ -58674,6 +60090,7 @@ 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 MONDO:0010011 schizencephaly SCTID SCTID:253159001 one_to_one +MONDO:0010011 schizencephaly http http://identifiers.org/hgnc/10848,http://identifiers.org/hgnc/10889,http://identifiers.org/hgnc/2202,http://identifiers.org/hgnc/3341 disease_has_basis_in_dysfunction_of MONDO:0010012 autoimmune polyendocrinopathy type 2 DOID DOID:0050168 one_to_one MONDO:0010012 autoimmune polyendocrinopathy type 2 GARD GARD:0007611 one_to_one MONDO:0010012 autoimmune polyendocrinopathy type 2 ICD10 ICD10:E31.0 inexact @@ -58694,6 +60111,7 @@ MONDO:0010013 schneckenbecken dysplasia OMIM OMIM:269250 one_to_one MONDO:0010013 schneckenbecken dysplasia Orphanet Orphanet:3144 one_to_one MONDO:0010013 schneckenbecken dysplasia SCTID SCTID:254049009 one_to_one MONDO:0010013 schneckenbecken dysplasia UMLS UMLS:C0432194 one_to_one +MONDO:0010013 schneckenbecken dysplasia http http://identifiers.org/hgnc/20800 disease_has_basis_in_dysfunction_of MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type ICD10 ICD10:Q78.8 inexact MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type MONDO MONDO:0019703 subclass MONDO:0010014 craniometadiaphyseal dysplasia, wormian bone type OMIM OMIM:269300 one_to_one @@ -58704,12 +60122,13 @@ MONDO:0010015 anterior segment dysgenesis 7 MONDO MONDO:0015218,MONDO:0019503,MO MONDO:0010015 anterior segment dysgenesis 7 OMIM OMIM:269400 one_to_one MONDO:0010015 anterior segment dysgenesis 7 Orphanet Orphanet:289499 one_to_one MONDO:0010015 anterior segment dysgenesis 7 UMLS UMLS:C3151617 one_to_one +MONDO:0010015 anterior segment dysgenesis 7 http http://identifiers.org/hgnc/14966 disease_has_basis_in_dysfunction_of MONDO:0010016 sclerosteosis 1 DOID DOID:0060756 one_to_one MONDO:0010016 sclerosteosis 1 ICD10 ICD10:M85.2 inexact MONDO:0010016 sclerosteosis 1 MONDO MONDO:0017838 subclass -MONDO:0010016 sclerosteosis 1 NCBIGene NCBIGene:50964 disease_has_basis_in_dysfunction_of MONDO:0010016 sclerosteosis 1 OMIM OMIM:269500 one_to_one MONDO:0010016 sclerosteosis 1 UMLS UMLS:CN032489 one_to_one +MONDO:0010016 sclerosteosis 1 http http://identifiers.org/hgnc/13771 disease_has_basis_in_dysfunction_of MONDO:0010017 sea-blue histiocyte syndrome DOID DOID:4423 one_to_one MONDO:0010017 sea-blue histiocyte syndrome EFO EFO:1001170 one_to_one MONDO:0010017 sea-blue histiocyte syndrome GARD GARD:0008241 one_to_one @@ -58721,6 +60140,7 @@ MONDO:0010017 sea-blue histiocyte syndrome OMIM OMIM:269600 one_to_one MONDO:0010017 sea-blue histiocyte syndrome Orphanet Orphanet:158029 one_to_one MONDO:0010017 sea-blue histiocyte syndrome SCTID SCTID:37821003 one_to_one MONDO:0010017 sea-blue histiocyte syndrome UMLS UMLS:C0036489 one_to_one +MONDO:0010017 sea-blue histiocyte syndrome http http://identifiers.org/hgnc/613 disease_has_basis_in_dysfunction_of MONDO:0010018 second metatarsal-metacarpal syndrome MESH MESH:C564824 one_to_one MONDO:0010018 second metatarsal-metacarpal syndrome MONDO MONDO:0003847 subclass MONDO:0010018 second metatarsal-metacarpal syndrome OMIM OMIM:269630 one_to_one @@ -58736,6 +60156,7 @@ MONDO:0010020 congenital generalized lipodystrophy type 2 GARD GARD:0010212 one_ MONDO:0010020 congenital generalized lipodystrophy type 2 ICD10 ICD10:E88.1 inexact MONDO:0010020 congenital generalized lipodystrophy type 2 MONDO MONDO:0006536,MONDO:0018883 subclass MONDO:0010020 congenital generalized lipodystrophy type 2 OMIM OMIM:269700 one_to_one +MONDO:0010020 congenital generalized lipodystrophy type 2 http http://identifiers.org/hgnc/15832 disease_has_basis_in_dysfunction_of MONDO:0010021 seizures, benign familial neonatal, autosomal recessive GARD GARD:0001519 one_to_one MONDO:0010021 seizures, benign familial neonatal, autosomal recessive MESH MESH:C564823 one_to_one MONDO:0010021 seizures, benign familial neonatal, autosomal recessive MONDO MONDO:0016027 subclass @@ -58750,6 +60171,7 @@ MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency MONDO MONDO:0018 MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency OMIM OMIM:269840 one_to_one MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency Orphanet Orphanet:911 one_to_one MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency SCTID SCTID:716378008 one_to_one +MONDO:0010023 combined immunodeficiency due to ZAP70 deficiency http http://identifiers.org/hgnc/12858 disease_has_basis_in_dysfunction_of MONDO:0010024 Beemer-Langer syndrome DOID DOID:9249 one_to_one MONDO:0010024 Beemer-Langer syndrome GARD GARD:0004832 one_to_one MONDO:0010024 Beemer-Langer syndrome HP HP:0001789,HP:0010442 disease_has_feature @@ -58772,12 +60194,14 @@ MONDO:0010026 short syndrome MONDO MONDO:0015218,MONDO:0015327,MONDO:0015329,MON MONDO:0010026 short syndrome OMIM OMIM:269880 one_to_one MONDO:0010026 short syndrome Orphanet Orphanet:3163 one_to_one MONDO:0010026 short syndrome UMLS UMLS:C0878684 one_to_one +MONDO:0010026 short syndrome http http://identifiers.org/hgnc/8979 disease_has_basis_in_dysfunction_of MONDO:0010027 free sialic acid storage disease, infantile form GARD GARD:0000175 one_to_one MONDO:0010027 free sialic acid storage disease, infantile form ICD10 ICD10:E77.8 inexact MONDO:0010027 free sialic acid storage disease, infantile form MONDO MONDO:0019366,MONDO:0019706 subclass MONDO:0010027 free sialic acid storage disease, infantile form MedDRA MedDRA:10067532 one_to_one MONDO:0010027 free sialic acid storage disease, infantile form OMIM OMIM:269920 one_to_one MONDO:0010027 free sialic acid storage disease, infantile form Orphanet Orphanet:309324 one_to_one +MONDO:0010027 free sialic acid storage disease, infantile form http http://identifiers.org/hgnc/10933 disease_has_basis_in_dysfunction_of MONDO:0010028 sialuria DOID DOID:3659 one_to_one MONDO:0010028 sialuria GARD GARD:0004865 one_to_one MONDO:0010028 sialuria ICD10 ICD10:E77.8 inexact @@ -58787,6 +60211,7 @@ MONDO:0010028 sialuria MedDRA MedDRA:10067529 inexact MONDO:0010028 sialuria OMIM OMIM:269921 one_to_one MONDO:0010028 sialuria Orphanet Orphanet:3166 one_to_one MONDO:0010028 sialuria SCTID SCTID:238051008 one_to_one +MONDO:0010028 sialuria http http://identifiers.org/hgnc/23657 disease_has_basis_in_dysfunction_of MONDO:0010029 situs inversus COHD COHD:193306 one_to_one MONDO:0010029 situs inversus DOID DOID:758 one_to_one MONDO:0010029 situs inversus GARD GARD:0004883 one_to_one @@ -58799,6 +60224,7 @@ MONDO:0010029 situs inversus NCIT NCIT:C87121 one_to_one MONDO:0010029 situs inversus OMIM OMIM:270100 one_to_one MONDO:0010029 situs inversus Orphanet Orphanet:101063 one_to_one MONDO:0010029 situs inversus SCTID SCTID:24614000 one_to_one +MONDO:0010029 situs inversus http http://identifiers.org/hgnc/7865 disease_has_basis_in_dysfunction_of MONDO:0010030 Sjogren syndrome DOID DOID:12894 one_to_one MONDO:0010030 Sjogren syndrome EFO EFO:0000699 one_to_one MONDO:0010030 Sjogren syndrome GARD GARD:0010252 one_to_one @@ -58824,6 +60250,7 @@ MONDO:0010031 Sjogren-Larsson syndrome OMIM OMIM:270200 one_to_one MONDO:0010031 Sjogren-Larsson syndrome Orphanet Orphanet:816 one_to_one MONDO:0010031 Sjogren-Larsson syndrome SCTID SCTID:111303009 one_to_one MONDO:0010031 Sjogren-Larsson syndrome UMLS UMLS:C0037231 one_to_one +MONDO:0010031 Sjogren-Larsson syndrome http http://identifiers.org/hgnc/403 disease_has_basis_in_dysfunction_of MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement GARD GARD:0004885 one_to_one MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement MESH MESH:C536668 one_to_one MONDO:0010032 Sjogren-Larsson-like ichthyosis without CNS or eye involvement MONDO MONDO:0010031 disease_shares_features_of @@ -58844,16 +60271,18 @@ MONDO:0010035 Smith-Lemli-Opitz syndrome GO GO:0006695,GO:0047598 disease_has_ba MONDO:0010035 Smith-Lemli-Opitz syndrome ICD10 ICD10:E78.72,ICD10:Q87.1 inexact MONDO:0010035 Smith-Lemli-Opitz syndrome ICD9 ICD9:759.89 inexact MONDO:0010035 Smith-Lemli-Opitz syndrome MESH MESH:D019082 one_to_one -MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO MONDO:0015159,MONDO:0015218,MONDO:0015329,MONDO:0015905,MONDO:0015919,MONDO:0017434,MONDO:0017971,MONDO:0018236,MONDO:0019240,MONDO:0019721,MONDO:0020165,MONDO:0020169,MONDO:0020234,MONDO:0020280,MONDO:0021196,MONDO:0043005 subclass +MONDO:0010035 Smith-Lemli-Opitz syndrome MONDO MONDO:0015159,MONDO:0015218,MONDO:0015329,MONDO:0015905,MONDO:0015919,MONDO:0017434,MONDO:0017971,MONDO:0018236,MONDO:0019240,MONDO:0019721,MONDO:0020165,MONDO:0020169,MONDO:0020234,MONDO:0020280,MONDO:0043005,MONDO:0044976 subclass MONDO:0010035 Smith-Lemli-Opitz syndrome NCIT NCIT:C85071 one_to_one MONDO:0010035 Smith-Lemli-Opitz syndrome OMIM OMIM:270400 one_to_one MONDO:0010035 Smith-Lemli-Opitz syndrome Orphanet Orphanet:818 one_to_one MONDO:0010035 Smith-Lemli-Opitz syndrome SCTID SCTID:43929004 one_to_one 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 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 MONDO:0010037 sodium-potassium-ATPase activity of red cell OMIM OMIM:270425 one_to_one MONDO:0010038 growth delay due to insulin-like growth factor I resistance GARD GARD:0010609 one_to_one @@ -58863,6 +60292,7 @@ MONDO:0010038 growth delay due to insulin-like growth factor I resistance OMIM O MONDO:0010038 growth delay due to insulin-like growth factor I resistance Orphanet Orphanet:73273 one_to_one MONDO:0010038 growth delay due to insulin-like growth factor I resistance SCTID SCTID:715625007 one_to_one MONDO:0010038 growth delay due to insulin-like growth factor I resistance UMLS UMLS:C1849157 one_to_one +MONDO:0010038 growth delay due to insulin-like growth factor I resistance http http://identifiers.org/hgnc/5465 disease_has_basis_in_dysfunction_of 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 @@ -58883,6 +60313,7 @@ MONDO:0010041 Charlevoix-Saguenay spastic ataxia OMIM OMIM:270550 one_to_one MONDO:0010041 Charlevoix-Saguenay spastic ataxia Orphanet Orphanet:98 one_to_one MONDO:0010041 Charlevoix-Saguenay spastic ataxia SCTID SCTID:702445005 one_to_one MONDO:0010041 Charlevoix-Saguenay spastic ataxia UMLS UMLS:C1849140 one_to_one +MONDO:0010041 Charlevoix-Saguenay spastic ataxia http http://identifiers.org/hgnc/10519 disease_has_basis_in_dysfunction_of MONDO:0010042 spastic diplegia and mental retardation GARD GARD:0004911 one_to_one MONDO:0010042 spastic diplegia and mental retardation MESH MESH:C537481 one_to_one MONDO:0010042 spastic diplegia and mental retardation MONDO MONDO:0003847 subclass @@ -58893,10 +60324,10 @@ MONDO:0010043 hereditary spastic paraplegia 17 GARD GARD:0004219 one_to_one MONDO:0010043 hereditary spastic paraplegia 17 ICD10 ICD10:G11.4 inexact MONDO:0010043 hereditary spastic paraplegia 17 MESH MESH:C536644 one_to_one MONDO:0010043 hereditary spastic paraplegia 17 MONDO MONDO:0015087,MONDO:0015362,MONDO:0019064 subclass -MONDO:0010043 hereditary spastic paraplegia 17 NCBIGene NCBIGene:26580 disease_has_basis_in_dysfunction_of MONDO:0010043 hereditary spastic paraplegia 17 OMIM OMIM:270685 one_to_one MONDO:0010043 hereditary spastic paraplegia 17 Orphanet Orphanet:100998 one_to_one MONDO:0010043 hereditary spastic paraplegia 17 UMLS UMLS:C2931276,UMLS:CN074197 inexact +MONDO:0010043 hereditary spastic paraplegia 17 http http://identifiers.org/hgnc/15832 disease_has_basis_in_dysfunction_of MONDO:0010044 hereditary spastic paraplegia 15 DOID DOID:0110768 one_to_one MONDO:0010044 hereditary spastic paraplegia 15 GARD GARD:0009581 one_to_one MONDO:0010044 hereditary spastic paraplegia 15 ICD10 ICD10:G11.4 inexact @@ -58906,6 +60337,7 @@ MONDO:0010044 hereditary spastic paraplegia 15 OMIM OMIM:270700 one_to_one MONDO:0010044 hereditary spastic paraplegia 15 Orphanet Orphanet:100996 one_to_one MONDO:0010044 hereditary spastic paraplegia 15 SCTID SCTID:709417000 one_to_one MONDO:0010044 hereditary spastic paraplegia 15 UMLS UMLS:C1849128 one_to_one +MONDO:0010044 hereditary spastic paraplegia 15 http http://identifiers.org/hgnc/20761 disease_has_basis_in_dysfunction_of 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 @@ -58913,6 +60345,7 @@ MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome MONDO MOND 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 +MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome http http://identifiers.org/hgnc/29529 disease_has_basis_in_dysfunction_of MONDO:0010046 hereditary spastic paraplegia 23 DOID DOID:0110774 one_to_one MONDO:0010046 hereditary spastic paraplegia 23 GARD GARD:0000336 one_to_one MONDO:0010046 hereditary spastic paraplegia 23 ICD10 ICD10:G11.4 inexact @@ -58921,6 +60354,7 @@ MONDO:0010046 hereditary spastic paraplegia 23 MONDO MONDO:0015089 subclass MONDO:0010046 hereditary spastic paraplegia 23 OMIM OMIM:270750 one_to_one MONDO:0010046 hereditary spastic paraplegia 23 Orphanet Orphanet:101003 one_to_one MONDO:0010046 hereditary spastic paraplegia 23 UMLS UMLS:C0796019 one_to_one +MONDO:0010046 hereditary spastic paraplegia 23 http http://identifiers.org/hgnc/29043 disease_has_basis_in_dysfunction_of MONDO:0010047 hereditary spastic paraplegia 5A DOID DOID:0110810 one_to_one MONDO:0010047 hereditary spastic paraplegia 5A GARD GARD:0004926 one_to_one MONDO:0010047 hereditary spastic paraplegia 5A ICD10 ICD10:G11.4 inexact @@ -58928,6 +60362,7 @@ MONDO:0010047 hereditary spastic paraplegia 5A MONDO MONDO:0017915 subclass MONDO:0010047 hereditary spastic paraplegia 5A OMIM OMIM:270800 one_to_one MONDO:0010047 hereditary spastic paraplegia 5A Orphanet Orphanet:100986 one_to_one MONDO:0010047 hereditary spastic paraplegia 5A UMLS UMLS:C1849115,UMLS:C2931357 inexact +MONDO:0010047 hereditary spastic paraplegia 5A http http://identifiers.org/hgnc/2652 disease_has_basis_in_dysfunction_of MONDO:0010048 spastic paraplegia with myoclonic epilepsy MESH MESH:C564810 one_to_one MONDO:0010048 spastic paraplegia with myoclonic epilepsy MONDO MONDO:0003847 subclass MONDO:0010048 spastic paraplegia with myoclonic epilepsy OMIM OMIM:270805 one_to_one @@ -58952,12 +60387,13 @@ MONDO:0010052 spermatogenic failure 4 GARD GARD:0008530 one_to_one MONDO:0010052 spermatogenic failure 4 MESH MESH:C536875 one_to_one MONDO:0010052 spermatogenic failure 4 MONDO MONDO:0004983,MONDO:0018393 subclass MONDO:0010052 spermatogenic failure 4 OMIM OMIM:270960 one_to_one +MONDO:0010052 spermatogenic failure 4 http http://identifiers.org/hgnc/18130 disease_has_basis_in_dysfunction_of MONDO:0010053 hereditary spherocytosis type 3 DOID DOID:0110918 one_to_one MONDO:0010053 hereditary spherocytosis type 3 MESH MESH:C567489 one_to_one MONDO:0010053 hereditary spherocytosis type 3 MONDO MONDO:0019350 subclass -MONDO:0010053 hereditary spherocytosis type 3 NCBIGene NCBIGene:6708 disease_has_basis_in_dysfunction_of MONDO:0010053 hereditary spherocytosis type 3 OMIM OMIM:270970 one_to_one MONDO:0010053 hereditary spherocytosis type 3 UMLS UMLS:C2678338 one_to_one +MONDO:0010053 hereditary spherocytosis type 3 http http://identifiers.org/hgnc/11272 disease_has_basis_in_dysfunction_of MONDO:0010054 spinal muscular atrophy with mental retardation MESH MESH:C564807 one_to_one MONDO:0010054 spinal muscular atrophy with mental retardation MONDO MONDO:0003847 subclass MONDO:0010054 spinal muscular atrophy with mental retardation OMIM OMIM:271109 one_to_one @@ -58996,6 +60432,7 @@ MONDO:0010060 infantile onset spinocerebellar ataxia MONDO MONDO:0016808,MONDO:0 MONDO:0010060 infantile onset spinocerebellar ataxia OMIM OMIM:271245 one_to_one MONDO:0010060 infantile onset spinocerebellar ataxia Orphanet Orphanet:1186 one_to_one MONDO:0010060 infantile onset spinocerebellar ataxia UMLS UMLS:C1849096 one_to_one +MONDO:0010060 infantile onset spinocerebellar ataxia http http://identifiers.org/hgnc/1160 disease_has_basis_in_dysfunction_of MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome GARD GARD:0009971 one_to_one MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome ICD10 ICD10:G11.1 inexact MONDO:0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome MESH MESH:C537309 one_to_one @@ -59033,6 +60470,7 @@ MONDO:0010066 familial isolated congenital asplenia MESH MESH:C563028 one_to_one MONDO:0010066 familial isolated congenital asplenia MONDO MONDO:0015213,MONDO:0018033 subclass MONDO:0010066 familial isolated congenital asplenia OMIM OMIM:271400 one_to_one MONDO:0010066 familial isolated congenital asplenia Orphanet Orphanet:101351 one_to_one +MONDO:0010066 familial isolated congenital asplenia http http://identifiers.org/hgnc/6502 disease_has_basis_in_dysfunction_of MONDO:0010067 splenoportal vascular anomalies MESH MESH:C562761 one_to_one MONDO:0010067 splenoportal vascular anomalies MONDO MONDO:0003847 subclass MONDO:0010067 splenoportal vascular anomalies OMIM OMIM:271500 one_to_one @@ -59086,6 +60524,7 @@ MONDO:0010074 BCYM1B OMIM OMIM:271630 one_to_one MONDO:0010074 BCYM1B UMLS UMLS:C1849048 one_to_one MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures MONDO MONDO:0019675 subclass MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures OMIM OMIM:271640 one_to_one +MONDO:0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures http http://identifiers.org/hgnc/17978 disease_has_basis_in_dysfunction_of MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type ICD10 ICD10:Q77.7 inexact MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type MESH MESH:C562958 one_to_one MONDO:0010076 spondyloepimetaphyseal dysplasia, Irapa type MONDO MONDO:0000844,MONDO:0016761 subclass @@ -59100,11 +60539,12 @@ MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome OMIM OMIM:271665 one_to_one MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Orphanet Orphanet:93358 one_to_one MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome UMLS UMLS:C1849011 one_to_one +MONDO:0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome http http://identifiers.org/hgnc/2731 disease_has_basis_in_dysfunction_of MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome GARD GARD:0004994 one_to_one MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome ICD10 ICD10:Q77.7 inexact MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome ICD9 ICD9:758.89 inexact MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome MESH MESH:C535799 one_to_one -MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome MONDO MONDO:0015960,MONDO:0016761,MONDO:0019686 subclass +MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome MONDO MONDO:0015960,MONDO:0016761,MONDO:0019686,MONDO:0022800 subclass MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome NCIT NCIT:C135088 one_to_one MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome OMIM OMIM:271700 one_to_one MONDO:0010078 spondyloperipheral dysplasia-short ulna syndrome Orphanet Orphanet:1856 one_to_one @@ -59121,6 +60561,7 @@ MONDO:0010079 Canavan disease OMIM OMIM:271900 one_to_one MONDO:0010079 Canavan disease Orphanet Orphanet:141 one_to_one MONDO:0010079 Canavan disease SCTID SCTID:80544005 one_to_one MONDO:0010079 Canavan disease UMLS UMLS:C0206307 one_to_one +MONDO:0010079 Canavan disease http http://identifiers.org/hgnc/756 disease_has_basis_in_dysfunction_of MONDO:0010080 familial infantile bilateral striatal necrosis GARD GARD:0010665 one_to_one MONDO:0010080 familial infantile bilateral striatal necrosis ICD10 ICD10:G23.2 inexact MONDO:0010080 familial infantile bilateral striatal necrosis MONDO MONDO:0021152 has_modifier @@ -59128,6 +60569,7 @@ MONDO:0010080 familial infantile bilateral striatal necrosis MONDO MONDO:0003122 MONDO:0010080 familial infantile bilateral striatal necrosis OMIM OMIM:271930 one_to_one MONDO:0010080 familial infantile bilateral striatal necrosis Orphanet Orphanet:225154 one_to_one MONDO:0010080 familial infantile bilateral striatal necrosis UMLS UMLS:CN201303 one_to_one +MONDO:0010080 familial infantile bilateral striatal necrosis http http://identifiers.org/hgnc/8066 disease_has_basis_in_dysfunction_of MONDO:0010081 subaortic stenosis, membranous MESH MESH:C564793 one_to_one MONDO:0010081 subaortic stenosis, membranous MONDO MONDO:0003847,MONDO:0016229,MONDO:0020029,MONDO:0020392 subclass MONDO:0010081 subaortic stenosis, membranous OMIM OMIM:271950 one_to_one @@ -59146,6 +60588,7 @@ MONDO:0010083 succinic semialdehyde dehydrogenase deficiency OMIM OMIM:271980 on MONDO:0010083 succinic semialdehyde dehydrogenase deficiency Orphanet Orphanet:22 one_to_one MONDO:0010083 succinic semialdehyde dehydrogenase deficiency SCTID SCTID:49748000 one_to_one MONDO:0010083 succinic semialdehyde dehydrogenase deficiency UMLS UMLS:C0268631 one_to_one +MONDO:0010083 succinic semialdehyde dehydrogenase deficiency http http://identifiers.org/hgnc/408 disease_has_basis_in_dysfunction_of MONDO:0010084 sucrosuria, hiatus hernia and mental retardation MESH MESH:C564792 one_to_one MONDO:0010084 sucrosuria, hiatus hernia and mental retardation MONDO MONDO:0003847 subclass MONDO:0010084 sucrosuria, hiatus hernia and mental retardation OMIM OMIM:272000 one_to_one @@ -59170,6 +60613,7 @@ MONDO:0010086 sudden infant death syndrome NCIT NCIT:C85173 one_to_one MONDO:0010086 sudden infant death syndrome OMIM OMIM:272120 one_to_one MONDO:0010086 sudden infant death syndrome SCTID SCTID:51178009 one_to_one MONDO:0010086 sudden infant death syndrome UMLS UMLS:C0038644 one_to_one +MONDO:0010086 sudden infant death syndrome http http://identifiers.org/hgnc/10593 disease_has_basis_in_dysfunction_of MONDO:0010087 Sugarman brachydactyly DOID DOID:0110979 one_to_one MONDO:0010087 Sugarman brachydactyly GARD GARD:0005058 one_to_one MONDO:0010087 Sugarman brachydactyly MONDO MONDO:0019066 subclass @@ -59179,12 +60623,13 @@ MONDO:0010088 mucosulfatidosis DOID DOID:0050441 one_to_one MONDO:0010088 mucosulfatidosis GARD GARD:0005061 one_to_one MONDO:0010088 mucosulfatidosis ICD10 ICD10:E75.2 inexact MONDO:0010088 mucosulfatidosis MESH MESH:D052517 one_to_one -MONDO:0010088 mucosulfatidosis MONDO MONDO:0015123,MONDO:0015327,MONDO:0015955,MONDO:0015960,MONDO:0017273,MONDO:0018299,MONDO:0019058,MONDO:0019255,MONDO:0019706 subclass +MONDO:0010088 mucosulfatidosis MONDO MONDO:0015327,MONDO:0015960,MONDO:0017273,MONDO:0018299,MONDO:0019058,MONDO:0019706 subclass MONDO:0010088 mucosulfatidosis NCIT NCIT:C84908 one_to_one MONDO:0010088 mucosulfatidosis OMIM OMIM:272200 one_to_one MONDO:0010088 mucosulfatidosis Orphanet Orphanet:585 one_to_one MONDO:0010088 mucosulfatidosis SCTID SCTID:54898003 one_to_one MONDO:0010088 mucosulfatidosis UMLS UMLS:C0268263 one_to_one +MONDO:0010088 mucosulfatidosis http http://identifiers.org/hgnc/20376 disease_has_basis_in_dysfunction_of MONDO:0010089 isolated sulfite oxidase deficiency GARD GARD:0005062 one_to_one MONDO:0010089 isolated sulfite oxidase deficiency ICD10 ICD10:E72.1 inexact MONDO:0010089 isolated sulfite oxidase deficiency MESH MESH:C538141 one_to_one @@ -59192,6 +60637,7 @@ MONDO:0010089 isolated sulfite oxidase deficiency MONDO MONDO:0019358 subclass MONDO:0010089 isolated sulfite oxidase deficiency OMIM OMIM:272300 one_to_one MONDO:0010089 isolated sulfite oxidase deficiency Orphanet Orphanet:99731 one_to_one MONDO:0010089 isolated sulfite oxidase deficiency SCTID SCTID:367368009 one_to_one +MONDO:0010089 isolated sulfite oxidase deficiency http http://identifiers.org/hgnc/11460 disease_has_basis_in_dysfunction_of MONDO:0010090 Summitt syndrome GARD GARD:0000127 one_to_one MONDO:0010090 Summitt syndrome ICD10 ICD10:Q82.0 inexact MONDO:0010090 Summitt syndrome MESH MESH:C538142 one_to_one @@ -59205,6 +60651,7 @@ MONDO:0010091 Crisponi syndrome MESH MESH:C536214 one_to_one MONDO:0010091 Crisponi syndrome MONDO MONDO:0015526 subclass MONDO:0010091 Crisponi syndrome OMIM OMIM:272430 one_to_one MONDO:0010091 Crisponi syndrome Orphanet Orphanet:1545 one_to_one +MONDO:0010091 Crisponi syndrome http http://identifiers.org/hgnc/2364 disease_has_basis_in_dysfunction_of 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 @@ -59213,6 +60660,7 @@ 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 MONDO:0010092 Filippi syndrome UMLS UMLS:C0795940 one_to_one +MONDO:0010092 Filippi syndrome http http://identifiers.org/hgnc/26877 disease_has_basis_in_dysfunction_of MONDO:0010093 syndesmodysplasic dwarfism MESH MESH:C537869 one_to_one MONDO:0010093 syndesmodysplasic dwarfism MONDO MONDO:0003847 subclass MONDO:0010093 syndesmodysplasic dwarfism OMIM OMIM:272450 one_to_one @@ -59228,6 +60676,7 @@ MONDO:0010094 spondylocarpotarsal synostosis syndrome OMIM OMIM:272460 one_to_on MONDO:0010094 spondylocarpotarsal synostosis syndrome Orphanet Orphanet:3275 one_to_one MONDO:0010094 spondylocarpotarsal synostosis syndrome SCTID SCTID:702351004 one_to_one MONDO:0010094 spondylocarpotarsal synostosis syndrome UMLS UMLS:C1848934 one_to_one +MONDO:0010094 spondylocarpotarsal synostosis syndrome http http://identifiers.org/hgnc/3755 disease_has_basis_in_dysfunction_of MONDO:0010095 ataxia-tapetoretinal degeneration syndrome MESH MESH:C564788 one_to_one MONDO:0010095 ataxia-tapetoretinal degeneration syndrome MONDO MONDO:0000557 subclass MONDO:0010095 ataxia-tapetoretinal degeneration syndrome OMIM OMIM:272600 one_to_one @@ -59260,17 +60709,20 @@ MONDO:0010099 Tay-Sachs disease AB variant OMIM OMIM:272750 one_to_one MONDO:0010099 Tay-Sachs disease AB variant Orphanet Orphanet:309246 one_to_one MONDO:0010099 Tay-Sachs disease AB variant SCTID SCTID:71253000 one_to_one MONDO:0010099 Tay-Sachs disease AB variant UMLS UMLS:C0268275 one_to_one +MONDO:0010099 Tay-Sachs disease AB variant http http://identifiers.org/hgnc/4367 disease_has_basis_in_dysfunction_of MONDO:0010100 Tay-Sachs disease DOID DOID:3320 one_to_one MONDO:0010100 Tay-Sachs disease GARD GARD:0007737 one_to_one +MONDO:0010100 Tay-Sachs disease GO GO:0004563 disease_has_basis_in_disruption_of MONDO:0010100 Tay-Sachs disease ICD10 ICD10:E75.0,ICD10:E75.02 inexact MONDO:0010100 Tay-Sachs disease MESH MESH:D013661 one_to_one -MONDO:0010100 Tay-Sachs disease MONDO MONDO:0004884,MONDO:0016133,MONDO:0017720,MONDO:0020143,MONDO:0020282 subclass +MONDO:0010100 Tay-Sachs disease MONDO MONDO:0004884,MONDO:0016133,MONDO:0017720,MONDO:0020143,MONDO:0020282,MONDO:0044976 subclass MONDO:0010100 Tay-Sachs disease MedDRA MedDRA:10043147 one_to_one MONDO:0010100 Tay-Sachs disease NCIT NCIT:C85184 one_to_one MONDO:0010100 Tay-Sachs disease OMIM OMIM:272800 one_to_one MONDO:0010100 Tay-Sachs disease Orphanet Orphanet:845 one_to_one MONDO:0010100 Tay-Sachs disease SCTID SCTID:111385000 one_to_one MONDO:0010100 Tay-Sachs disease UMLS UMLS:C0039373 one_to_one +MONDO:0010100 Tay-Sachs disease http http://identifiers.org/hgnc/4878 disease_has_basis_in_dysfunction_of MONDO:0010101 Teebi-Shaltout syndrome GARD GARD:0005125 one_to_one MONDO:0010101 Teebi-Shaltout syndrome MESH MESH:C536950 one_to_one MONDO:0010101 Teebi-Shaltout syndrome MONDO MONDO:0019287,MONDO:0019710 subclass @@ -59319,6 +60771,7 @@ MONDO:0010108 testicular germ cell tumor Orphanet Orphanet:363504 one_to_one MONDO:0010108 testicular germ cell tumor SCTID SCTID:713577007 one_to_one MONDO:0010108 testicular germ cell tumor UBERON UBERON:0000473 disease_has_location MONDO:0010108 testicular germ cell tumor UMLS UMLS:C1336708 one_to_one +MONDO:0010108 testicular germ cell tumor http http://identifiers.org/hgnc/11389,http://identifiers.org/hgnc/3690,http://identifiers.org/hgnc/6342,http://identifiers.org/hgnc/989 disease_has_basis_in_dysfunction_of MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities GARD GARD:0003348,GARD:0005146 inexact MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities MESH MESH:C536496 one_to_one MONDO:0010109 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities MONDO MONDO:0003847 subclass @@ -59331,6 +60784,7 @@ MONDO:0010110 tetraamelia-multiple malformations syndrome OMIM OMIM:273395 one_t MONDO:0010110 tetraamelia-multiple malformations syndrome Orphanet Orphanet:3301 one_to_one MONDO:0010110 tetraamelia-multiple malformations syndrome SCTID SCTID:716249009 one_to_one MONDO:0010110 tetraamelia-multiple malformations syndrome UMLS UMLS:C2931218 one_to_one +MONDO:0010110 tetraamelia-multiple malformations syndrome http http://identifiers.org/hgnc/12782 disease_has_basis_in_dysfunction_of MONDO:0010111 odontotrichomelic syndrome MONDO MONDO:0009263,MONDO:0015335,MONDO:0015958 subclass MONDO:0010111 odontotrichomelic syndrome OMIM OMIM:273400 one_to_one MONDO:0010111 odontotrichomelic syndrome Orphanet Orphanet:2723 one_to_one @@ -59340,6 +60794,7 @@ MONDO:0010112 thalamic degeneration, symmetric infantile GARD GARD:0005160 one_t MONDO:0010112 thalamic degeneration, symmetric infantile MESH MESH:C536504 one_to_one MONDO:0010112 thalamic degeneration, symmetric infantile MONDO MONDO:0003847 subclass MONDO:0010112 thalamic degeneration, symmetric infantile OMIM OMIM:273490 one_to_one +MONDO:0010112 thalamic degeneration, symmetric infantile Orphanet Orphanet:3311 one_to_one MONDO:0010112 thalamic degeneration, symmetric infantile UMLS UMLS:C2931220 one_to_one MONDO:0010113 thalidomide susceptibility MONDO MONDO:0003847 subclass MONDO:0010113 thalidomide susceptibility OMIM OMIM:273600 one_to_one @@ -59364,6 +60819,7 @@ MONDO:0010116 thoracomelic dysplasia Orphanet Orphanet:1803 one_to_one MONDO:0010116 thoracomelic dysplasia UMLS UMLS:C1848863 one_to_one MONDO:0010117 three M syndrome 1 MONDO MONDO:0007477 subclass MONDO:0010117 three M syndrome 1 OMIM OMIM:273750 one_to_one +MONDO:0010117 three M syndrome 1 http http://identifiers.org/hgnc/21024 disease_has_basis_in_dysfunction_of MONDO:0010118 Threoninemia MONDO MONDO:0003847 subclass MONDO:0010118 Threoninemia OMIM OMIM:273770 one_to_one MONDO:0010119 Glanzmann's thrombasthenia DOID DOID:2219 one_to_one @@ -59375,10 +60831,12 @@ MONDO:0010119 Glanzmann's thrombasthenia NCIT NCIT:C61249 one_to_one MONDO:0010119 Glanzmann's thrombasthenia OMIM OMIM:273800 one_to_one MONDO:0010119 Glanzmann's thrombasthenia Orphanet Orphanet:849 one_to_one MONDO:0010119 Glanzmann's thrombasthenia SCTID SCTID:32942005 one_to_one +MONDO:0010119 Glanzmann's thrombasthenia http http://identifiers.org/hgnc/6138,http://identifiers.org/hgnc/6156 disease_has_basis_in_dysfunction_of MONDO:0010120 THC3 MESH MESH:C567487 one_to_one MONDO:0010120 THC3 MONDO MONDO:0015679 subclass MONDO:0010120 THC3 OMIM OMIM:273900 one_to_one MONDO:0010120 THC3 UMLS UMLS:C2678311 one_to_one +MONDO:0010120 THC3 http http://identifiers.org/hgnc/4036 disease_has_basis_in_dysfunction_of MONDO:0010121 thrombocytopenia-absent radius syndrome DOID DOID:14699 one_to_one MONDO:0010121 thrombocytopenia-absent radius syndrome GARD GARD:0005116 one_to_one MONDO:0010121 thrombocytopenia-absent radius syndrome ICD10 ICD10:Q87.2 inexact @@ -59390,6 +60848,7 @@ MONDO:0010121 thrombocytopenia-absent radius syndrome OMIM OMIM:274000 one_to_on MONDO:0010121 thrombocytopenia-absent radius syndrome Orphanet Orphanet:3320 one_to_one MONDO:0010121 thrombocytopenia-absent radius syndrome SCTID SCTID:85589009 one_to_one MONDO:0010121 thrombocytopenia-absent radius syndrome UMLS UMLS:C0175703 one_to_one +MONDO:0010121 thrombocytopenia-absent radius syndrome http http://identifiers.org/hgnc/9905 disease_has_basis_in_dysfunction_of MONDO:0010122 congenital thrombotic thrombocytopenic purpura GARD GARD:0009430 one_to_one MONDO:0010122 congenital thrombotic thrombocytopenic purpura ICD10 ICD10:M31.3 inexact MONDO:0010122 congenital thrombotic thrombocytopenic purpura ICD9 ICD9:287.33 inexact @@ -59399,6 +60858,7 @@ MONDO:0010122 congenital thrombotic thrombocytopenic purpura NCIT NCIT:C131657 o MONDO:0010122 congenital thrombotic thrombocytopenic purpura OMIM OMIM:274150 one_to_one MONDO:0010122 congenital thrombotic thrombocytopenic purpura Orphanet Orphanet:93583 one_to_one MONDO:0010122 congenital thrombotic thrombocytopenic purpura SCTID SCTID:373420004 one_to_one +MONDO:0010122 congenital thrombotic thrombocytopenic purpura http http://identifiers.org/hgnc/1366 disease_has_basis_in_dysfunction_of MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome ICD10 ICD10:D82.8 inexact MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome MESH MESH:C564770 one_to_one MONDO:0010123 absent thumb-short stature-immunodeficiency syndrome MONDO MONDO:0018035 subclass @@ -59447,10 +60907,13 @@ MONDO:0010130 dihydropyrimidine dehydrogenase deficiency OMIM OMIM:274270 one_to MONDO:0010130 dihydropyrimidine dehydrogenase deficiency Orphanet Orphanet:1675 one_to_one MONDO:0010130 dihydropyrimidine dehydrogenase deficiency SCTID SCTID:77365006 one_to_one 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 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 +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive http http://identifiers.org/hgnc/11799 one_to_one MONDO:0010132 familial thyroid dyshormonogenesis GO GO:0042403 disease_has_basis_in_disruption_of MONDO:0010132 familial thyroid dyshormonogenesis ICD10 ICD10:E03.0,ICD10:E03.1 inexact MONDO:0010132 familial thyroid dyshormonogenesis MESH MESH:C564766 one_to_one @@ -59460,6 +60923,7 @@ MONDO:0010132 familial thyroid dyshormonogenesis OMIM OMIM:274400 one_to_one MONDO:0010132 familial thyroid dyshormonogenesis Orphanet Orphanet:95716 one_to_one MONDO:0010132 familial thyroid dyshormonogenesis SCTID SCTID:718183003 one_to_one MONDO:0010132 familial thyroid dyshormonogenesis UMLS UMLS:C1848805 one_to_one +MONDO:0010132 familial thyroid dyshormonogenesis http http://identifiers.org/hgnc/11040 disease_has_basis_in_dysfunction_of MONDO:0010133 thyroid dyshormonogenesis 2A ICD9 ICD9:277.6 inexact MONDO:0010133 thyroid dyshormonogenesis 2A MESH MESH:C563206 one_to_one MONDO:0010133 thyroid dyshormonogenesis 2A MONDO MONDO:0010132 subclass @@ -59467,6 +60931,7 @@ MONDO:0010133 thyroid dyshormonogenesis 2A NCIT NCIT:C121750 one_to_one MONDO:0010133 thyroid dyshormonogenesis 2A OMIM OMIM:274500 one_to_one MONDO:0010133 thyroid dyshormonogenesis 2A SCTID SCTID:124204003 one_to_one MONDO:0010133 thyroid dyshormonogenesis 2A UMLS UMLS:C1291299 one_to_one +MONDO:0010133 thyroid dyshormonogenesis 2A http http://identifiers.org/hgnc/12015 disease_has_basis_in_dysfunction_of MONDO:0010134 Pendred syndrome DOID DOID:0060744 one_to_one MONDO:0010134 Pendred syndrome GARD GARD:0004271 one_to_one MONDO:0010134 Pendred syndrome ICD10 ICD10:E07.1 inexact @@ -59477,23 +60942,28 @@ MONDO:0010134 Pendred syndrome OMIM OMIM:274600 one_to_one MONDO:0010134 Pendred syndrome Orphanet Orphanet:705 one_to_one MONDO:0010134 Pendred syndrome SCTID SCTID:70348004 one_to_one MONDO:0010134 Pendred syndrome UMLS UMLS:C0271829 one_to_one +MONDO:0010134 Pendred syndrome http http://identifiers.org/hgnc/3815,http://identifiers.org/hgnc/6256,http://identifiers.org/hgnc/8818 disease_has_basis_in_dysfunction_of MONDO:0010135 thyroid dyshormonogenesis 3 MESH MESH:C562769 one_to_one MONDO:0010135 thyroid dyshormonogenesis 3 MONDO MONDO:0010132 subclass MONDO:0010135 thyroid dyshormonogenesis 3 OMIM OMIM:274700 one_to_one MONDO:0010135 thyroid dyshormonogenesis 3 SCTID SCTID:23536000 one_to_one MONDO:0010135 thyroid dyshormonogenesis 3 UMLS UMLS:C0342194 one_to_one +MONDO:0010135 thyroid dyshormonogenesis 3 http http://identifiers.org/hgnc/11764 disease_has_basis_in_dysfunction_of MONDO:0010136 thyroid dyshormonogenesis 4 MESH MESH:C562770 one_to_one MONDO:0010136 thyroid dyshormonogenesis 4 MONDO MONDO:0010132 subclass MONDO:0010136 thyroid dyshormonogenesis 4 OMIM OMIM:274800 one_to_one MONDO:0010136 thyroid dyshormonogenesis 4 SCTID SCTID:17885001 one_to_one MONDO:0010136 thyroid dyshormonogenesis 4 UMLS UMLS:C0342195 one_to_one +MONDO:0010136 thyroid dyshormonogenesis 4 http http://identifiers.org/hgnc/21071 disease_has_basis_in_dysfunction_of MONDO:0010137 thyroid dyshormonogenesis 5 MESH MESH:C562771 one_to_one MONDO:0010137 thyroid dyshormonogenesis 5 MONDO MONDO:0010132 subclass MONDO:0010137 thyroid dyshormonogenesis 5 OMIM OMIM:274900 one_to_one MONDO:0010137 thyroid dyshormonogenesis 5 SCTID SCTID:63127008 one_to_one MONDO:0010137 thyroid dyshormonogenesis 5 UMLS UMLS:C0342196 one_to_one +MONDO:0010137 thyroid dyshormonogenesis 5 http http://identifiers.org/hgnc/32698 disease_has_basis_in_dysfunction_of MONDO:0010138 thyrotoxicosis COHD COHD:138387 one_to_one MONDO:0010138 thyrotoxicosis DOID DOID:7997 one_to_one +MONDO:0010138 thyrotoxicosis EFO EFO:0009190 one_to_one MONDO:0010138 thyrotoxicosis ICD10 ICD10:E05.9 inexact MONDO:0010138 thyrotoxicosis ICD9 ICD9:242,ICD9:242.80,ICD9:242.90 inexact MONDO:0010138 thyrotoxicosis MESH MESH:D013971 one_to_one @@ -59509,6 +60979,7 @@ MONDO:0010139 isolated thyroid-stimulating hormone deficiency MONDO MONDO:000004 MONDO:0010139 isolated thyroid-stimulating hormone deficiency OMIM OMIM:275100 one_to_one MONDO:0010139 isolated thyroid-stimulating hormone deficiency Orphanet Orphanet:90674 one_to_one MONDO:0010139 isolated thyroid-stimulating hormone deficiency UMLS UMLS:C0271789,UMLS:C4082174 inexact +MONDO:0010139 isolated thyroid-stimulating hormone deficiency http http://identifiers.org/hgnc/12372 disease_has_basis_in_dysfunction_of MONDO:0010140 isolated thyrotropin-releasing hormone deficiency ICD10 ICD10:E03.1 inexact MONDO:0010140 isolated thyrotropin-releasing hormone deficiency ICD9 ICD9:253.4 inexact MONDO:0010140 isolated thyrotropin-releasing hormone deficiency MONDO MONDO:0016410 subclass @@ -59516,6 +60987,7 @@ MONDO:0010140 isolated thyrotropin-releasing hormone deficiency NCIT NCIT:C12174 MONDO:0010140 isolated thyrotropin-releasing hormone deficiency OMIM OMIM:275120 one_to_one MONDO:0010140 isolated thyrotropin-releasing hormone deficiency Orphanet Orphanet:238670 one_to_one MONDO:0010140 isolated thyrotropin-releasing hormone deficiency SCTID SCTID:10736002 one_to_one +MONDO:0010140 isolated thyrotropin-releasing hormone deficiency http http://identifiers.org/hgnc/12298 disease_has_basis_in_dysfunction_of MONDO:0010141 tiglic acidemia GARD GARD:0009958 one_to_one MONDO:0010141 tiglic acidemia ICD9 ICD9:270.8 inexact MONDO:0010141 tiglic acidemia MESH MESH:C536921 one_to_one @@ -59526,10 +60998,11 @@ MONDO:0010141 tiglic acidemia UMLS UMLS:C1848793 one_to_one MONDO:0010142 hypothyroidism due to TSH receptor mutations DOID DOID:0070126 one_to_one MONDO:0010142 hypothyroidism due to TSH receptor mutations GO GO:0004887 disease_has_basis_in_disruption_of MONDO:0010142 hypothyroidism due to TSH receptor mutations ICD10 ICD10:E03.1 inexact -MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO MONDO:0000045,MONDO:0019856,MONDO:0021195,MONDO:0021196 subclass +MONDO:0010142 hypothyroidism due to TSH receptor mutations MONDO MONDO:0000045,MONDO:0019856,MONDO:0044977 subclass MONDO:0010142 hypothyroidism due to TSH receptor mutations OMIM OMIM:275200 one_to_one MONDO:0010142 hypothyroidism due to TSH receptor mutations Orphanet Orphanet:90673 one_to_one MONDO:0010142 hypothyroidism due to TSH receptor mutations UMLS UMLS:C3493776,UMLS:CN206435 inexact +MONDO:0010142 hypothyroidism due to TSH receptor mutations http http://identifiers.org/hgnc/12373 disease_has_basis_in_dysfunction_of MONDO:0010143 lethal restrictive dermopathy DOID DOID:0060762 one_to_one MONDO:0010143 lethal restrictive dermopathy GARD GARD:0001516 one_to_one MONDO:0010143 lethal restrictive dermopathy ICD10 ICD10:Q82.8 inexact @@ -59539,6 +61012,7 @@ MONDO:0010143 lethal restrictive dermopathy OMIM OMIM:275210 one_to_one MONDO:0010143 lethal restrictive dermopathy Orphanet Orphanet:1662 one_to_one MONDO:0010143 lethal restrictive dermopathy SCTID SCTID:400128006 one_to_one MONDO:0010143 lethal restrictive dermopathy UMLS UMLS:C0406585 one_to_one +MONDO:0010143 lethal restrictive dermopathy http http://identifiers.org/hgnc/12877,http://identifiers.org/hgnc/6636 disease_has_basis_in_dysfunction_of MONDO:0010144 tibial hemimelia GARD GARD:0008707 one_to_one MONDO:0010144 tibial hemimelia ICD10 ICD10:Q72.5 inexact MONDO:0010144 tibial hemimelia MESH MESH:C535563 one_to_one @@ -59580,6 +61054,7 @@ MONDO:0010149 transcobalamin II deficiency OMIM OMIM:275350 one_to_one MONDO:0010149 transcobalamin II deficiency Orphanet Orphanet:859 one_to_one MONDO:0010149 transcobalamin II deficiency SCTID SCTID:237934001 one_to_one MONDO:0010149 transcobalamin II deficiency UMLS UMLS:C0342701 one_to_one +MONDO:0010149 transcobalamin II deficiency http http://identifiers.org/hgnc/11653 disease_has_basis_in_dysfunction_of MONDO:0010150 head and neck squamous cell carcinoma DOID DOID:5520 one_to_one MONDO:0010150 head and neck squamous cell carcinoma EFO EFO:0000181 one_to_one MONDO:0010150 head and neck squamous cell carcinoma MESH MESH:C535575 one_to_one @@ -59592,6 +61067,7 @@ MONDO:0010150 head and neck squamous cell carcinoma Orphanet Orphanet:67037 one_ MONDO:0010150 head and neck squamous cell carcinoma SCTID SCTID:716659002 one_to_one MONDO:0010150 head and neck squamous cell carcinoma UBERON UBERON:0007811 disease_has_location MONDO:0010150 head and neck squamous cell carcinoma UMLS UMLS:C1168401 one_to_one +MONDO:0010150 head and neck squamous cell carcinoma http http://identifiers.org/hgnc/11905,http://identifiers.org/hgnc/6062,http://identifiers.org/hgnc/9588 disease_has_basis_in_dysfunction_of MONDO:0010151 tricarboxylic acid cycle, defect of MESH MESH:C564762 one_to_one MONDO:0010151 tricarboxylic acid cycle, defect of MONDO MONDO:0016790 subclass MONDO:0010151 tricarboxylic acid cycle, defect of OMIM OMIM:275370 one_to_one @@ -59602,6 +61078,7 @@ MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome MOND MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM OMIM:275400 one_to_one MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome Orphanet Orphanet:3363 one_to_one MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome UMLS UMLS:C1848745 one_to_one +MONDO:0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome http http://identifiers.org/hgnc/16268 disease_has_basis_in_dysfunction_of MONDO:0010153 trichoodontoonychial dysplasia GARD GARD:0005267 one_to_one MONDO:0010153 trichoodontoonychial dysplasia MESH MESH:C564760 one_to_one MONDO:0010153 trichoodontoonychial dysplasia MONDO MONDO:0015336,MONDO:0019287 subclass @@ -59620,6 +61097,7 @@ MONDO:0010155 Dorfman-Chanarin disease ICD10 ICD10:E75.5 inexact MONDO:0010155 Dorfman-Chanarin disease MONDO MONDO:0015611,MONDO:0015905,MONDO:0017274,MONDO:0020269 subclass MONDO:0010155 Dorfman-Chanarin disease OMIM OMIM:275630 one_to_one MONDO:0010155 Dorfman-Chanarin disease Orphanet Orphanet:98907 one_to_one +MONDO:0010155 Dorfman-Chanarin disease http http://identifiers.org/hgnc/21396 disease_has_basis_in_dysfunction_of MONDO:0010156 Troyer syndrome DOID DOID:0050886 one_to_one MONDO:0010156 Troyer syndrome GARD GARD:0005372 one_to_one MONDO:0010156 Troyer syndrome ICD10 ICD10:G11.4 inexact @@ -59630,6 +61108,7 @@ MONDO:0010156 Troyer syndrome OMIM OMIM:275900 one_to_one MONDO:0010156 Troyer syndrome Orphanet Orphanet:101000 one_to_one MONDO:0010156 Troyer syndrome SCTID SCTID:230264003 one_to_one MONDO:0010156 Troyer syndrome UMLS UMLS:C0393559 one_to_one +MONDO:0010156 Troyer syndrome http http://identifiers.org/hgnc/18514 disease_has_basis_in_dysfunction_of MONDO:0010157 Tryptophanuria with dwarfism GARD GARD:0004268 one_to_one MONDO:0010157 Tryptophanuria with dwarfism ICD9 ICD9:259.4 inexact MONDO:0010157 Tryptophanuria with dwarfism MESH MESH:C562658 one_to_one @@ -59647,6 +61126,7 @@ MONDO:0010159 constitutional mismatch repair deficiency syndrome OMIM OMIM:27630 MONDO:0010159 constitutional mismatch repair deficiency syndrome Orphanet Orphanet:252202 one_to_one MONDO:0010159 constitutional mismatch repair deficiency syndrome SCTID SCTID:61665008 one_to_one MONDO:0010159 constitutional mismatch repair deficiency syndrome UMLS UMLS:C0265325,UMLS:C4321324 inexact +MONDO:0010159 constitutional mismatch repair deficiency syndrome http http://identifiers.org/hgnc/7127,http://identifiers.org/hgnc/7325,http://identifiers.org/hgnc/7329,http://identifiers.org/hgnc/9122 disease_has_basis_in_dysfunction_of 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 @@ -59657,6 +61137,7 @@ MONDO:0010160 tyrosinemia type II NCIT NCIT:C129032 one_to_one MONDO:0010160 tyrosinemia type II OMIM OMIM:276600 one_to_one MONDO:0010160 tyrosinemia type II Orphanet Orphanet:28378 one_to_one MONDO:0010160 tyrosinemia type II SCTID SCTID:4887000 one_to_one +MONDO:0010160 tyrosinemia type II http http://identifiers.org/hgnc/11573 disease_has_basis_in_dysfunction_of 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 @@ -59668,6 +61149,7 @@ MONDO:0010161 tyrosinemia type I OMIM OMIM:276700 one_to_one MONDO:0010161 tyrosinemia type I Orphanet Orphanet:882 one_to_one MONDO:0010161 tyrosinemia type I SCTID SCTID:410056006 one_to_one MONDO:0010161 tyrosinemia type I UMLS UMLS:C0268490 one_to_one +MONDO:0010161 tyrosinemia type I http http://identifiers.org/hgnc/3579 disease_has_basis_in_dysfunction_of MONDO:0010162 tyrosinemia type III DOID DOID:0050727 one_to_one MONDO:0010162 tyrosinemia type III GARD GARD:0010332 one_to_one MONDO:0010162 tyrosinemia type III HP HP:0003231 disease_has_feature @@ -59679,6 +61161,7 @@ MONDO:0010162 tyrosinemia type III OMIM OMIM:276710 one_to_one MONDO:0010162 tyrosinemia type III Orphanet Orphanet:69723 one_to_one MONDO:0010162 tyrosinemia type III SCTID SCTID:415764005 one_to_one MONDO:0010162 tyrosinemia type III UMLS UMLS:C0268623 one_to_one +MONDO:0010162 tyrosinemia type III http http://identifiers.org/hgnc/5147 disease_has_basis_in_dysfunction_of MONDO:0010163 Tyrosinosis ICD9 ICD9:270.2 inexact MONDO:0010163 Tyrosinosis MESH MESH:C562659 one_to_one MONDO:0010163 Tyrosinosis MONDO MONDO:0003847 subclass @@ -59692,6 +61175,7 @@ MONDO:0010164 phocomelia, Schinzel type MONDO MONDO:0017432,MONDO:0018455 subcla MONDO:0010164 phocomelia, Schinzel type OMIM OMIM:276820 one_to_one MONDO:0010164 phocomelia, Schinzel type Orphanet Orphanet:2879 one_to_one MONDO:0010164 phocomelia, Schinzel type SCTID SCTID:715522000 one_to_one +MONDO:0010164 phocomelia, Schinzel type http http://identifiers.org/hgnc/12786 disease_has_basis_in_dysfunction_of MONDO:0010165 ulna hypoplasia-intellectual disability syndrome GARD GARD:0005398 one_to_one MONDO:0010165 ulna hypoplasia-intellectual disability syndrome ICD10 ICD10:Q87.2 inexact MONDO:0010165 ulna hypoplasia-intellectual disability syndrome MESH MESH:C564757 one_to_one @@ -59712,6 +61196,7 @@ MONDO:0010167 urocanic aciduria (disease) OMIM OMIM:276880 one_to_one MONDO:0010167 urocanic aciduria (disease) Orphanet Orphanet:210128 one_to_one MONDO:0010167 urocanic aciduria (disease) SCTID SCTID:60952007 one_to_one MONDO:0010167 urocanic aciduria (disease) UMLS UMLS:C0268514 one_to_one +MONDO:0010167 urocanic aciduria (disease) http http://identifiers.org/hgnc/26444 disease_has_basis_in_dysfunction_of MONDO:0010168 Usher syndrome type 1 DOID DOID:0110826 one_to_one MONDO:0010168 Usher syndrome type 1 GARD GARD:0005435,GARD:0005436 inexact MONDO:0010168 Usher syndrome type 1 ICD10 ICD10:H35.5 inexact @@ -59720,19 +61205,20 @@ MONDO:0010168 Usher syndrome type 1 NCIT NCIT:C126327 one_to_one MONDO:0010168 Usher syndrome type 1 OMIM OMIM:276900 one_to_one MONDO:0010168 Usher syndrome type 1 Orphanet Orphanet:231169 one_to_one MONDO:0010168 Usher syndrome type 1 SCTID SCTID:232057003 one_to_one +MONDO:0010168 Usher syndrome type 1 http http://identifiers.org/hgnc/12597,http://identifiers.org/hgnc/7606 disease_has_basis_in_dysfunction_of MONDO:0010169 Usher syndrome type 2A DOID DOID:0110838 one_to_one MONDO:0010169 Usher syndrome type 2A GARD GARD:0005440 one_to_one MONDO:0010169 Usher syndrome type 2A ICD10 ICD10:H35.5 inexact MONDO:0010169 Usher syndrome type 2A MESH MESH:C536490 one_to_one MONDO:0010169 Usher syndrome type 2A MONDO MONDO:0013436,MONDO:0016484,MONDO:0019501 subclass -MONDO:0010169 Usher syndrome type 2A NCBIGene NCBIGene:7399 disease_has_basis_in_dysfunction_of MONDO:0010169 Usher syndrome type 2A OMIM OMIM:276901 one_to_one MONDO:0010169 Usher syndrome type 2A UMLS UMLS:C1848634 one_to_one +MONDO:0010169 Usher syndrome type 2A http http://identifiers.org/hgnc/12601 disease_has_basis_in_dysfunction_of MONDO:0010170 Usher syndrome type 3A DOID DOID:0110841 one_to_one MONDO:0010170 Usher syndrome type 3A ICD10 ICD10:H35.5 inexact MONDO:0010170 Usher syndrome type 3A MONDO MONDO:0013610,MONDO:0016485,MONDO:0019501 subclass -MONDO:0010170 Usher syndrome type 3A NCBIGene NCBIGene:7401 disease_has_basis_in_dysfunction_of MONDO:0010170 Usher syndrome type 3A OMIM OMIM:276902 one_to_one +MONDO:0010170 Usher syndrome type 3A http http://identifiers.org/hgnc/12605 disease_has_basis_in_dysfunction_of MONDO:0010171 Usher syndrome type 1C DOID DOID:0110830 one_to_one MONDO:0010171 Usher syndrome type 1C GARD GARD:0005437 one_to_one MONDO:0010171 Usher syndrome type 1C ICD10 ICD10:H35.5 inexact @@ -59745,6 +61231,7 @@ MONDO:0010172 VACTERL with hydrocephalus MONDO MONDO:0008642,MONDO:0015159,MONDO MONDO:0010172 VACTERL with hydrocephalus OMIM OMIM:276950 one_to_one MONDO:0010172 VACTERL with hydrocephalus Orphanet Orphanet:3412 one_to_one MONDO:0010172 VACTERL with hydrocephalus UMLS UMLS:C1848599 one_to_one +MONDO:0010172 VACTERL with hydrocephalus http http://identifiers.org/hgnc/9588 disease_has_basis_in_dysfunction_of MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 GARD GARD:0007100 one_to_one MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ICD10 ICD10:Q51.8 inexact MONDO:0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 ICD9 ICD9:752.49 inexact @@ -59767,7 +61254,7 @@ MONDO:0010176 Joubert syndrome with orofaciodigital defect DOID DOID:0060376 one MONDO:0010176 Joubert syndrome with orofaciodigital defect GARD GARD:0004412 one_to_one MONDO:0010176 Joubert syndrome with orofaciodigital defect ICD10 ICD10:Q04.3 inexact MONDO:0010176 Joubert syndrome with orofaciodigital defect MESH MESH:C536531 one_to_one -MONDO:0010176 Joubert syndrome with orofaciodigital defect MONDO MONDO:0015375,MONDO:0015983,MONDO:0018772,MONDO:0019589 subclass +MONDO:0010176 Joubert syndrome with orofaciodigital defect MONDO MONDO:0013824,MONDO:0015375,MONDO:0015983,MONDO:0019589 subclass MONDO:0010176 Joubert syndrome with orofaciodigital defect NCIT NCIT:C124841 one_to_one MONDO:0010176 Joubert syndrome with orofaciodigital defect OMIM OMIM:277170 one_to_one MONDO:0010176 Joubert syndrome with orofaciodigital defect Orphanet Orphanet:2754 one_to_one @@ -59782,6 +61269,7 @@ MONDO:0010177 retinal ischemic syndrome-digestive tract small vessel hyalinosis- MONDO:0010178 vas deferens, congenital bilateral aplasia of MONDO MONDO:0018801 subclass MONDO:0010178 vas deferens, congenital bilateral aplasia of NCIT NCIT:C129303 one_to_one MONDO:0010178 vas deferens, congenital bilateral aplasia of OMIM OMIM:277180 one_to_one +MONDO:0010178 vas deferens, congenital bilateral aplasia of http http://identifiers.org/hgnc/1884 disease_has_basis_in_dysfunction_of MONDO:0010179 isolated right ventricular hypoplasia GARD GARD:0004721 one_to_one MONDO:0010179 isolated right ventricular hypoplasia ICD10 ICD10:Q22.6 inexact MONDO:0010179 isolated right ventricular hypoplasia MESH MESH:C535682 one_to_one @@ -59799,6 +61287,7 @@ MONDO:0010180 autosomal recessive spondylocostal dysostosis OMIM OMIM:277300 one MONDO:0010180 autosomal recessive spondylocostal dysostosis Orphanet Orphanet:2311 one_to_one MONDO:0010180 autosomal recessive spondylocostal dysostosis SCTID SCTID:61367005 one_to_one MONDO:0010180 autosomal recessive spondylocostal dysostosis UMLS UMLS:CN032975 one_to_one +MONDO:0010180 autosomal recessive spondylocostal dysostosis http http://identifiers.org/hgnc/2909,http://identifiers.org/hgnc/29659 disease_has_basis_in_dysfunction_of MONDO:0010181 oculogastrointestinal muscular dystrophy GARD GARD:0005496 one_to_one MONDO:0010181 oculogastrointestinal muscular dystrophy ICD10 ICD10:G71.0 inexact MONDO:0010181 oculogastrointestinal muscular dystrophy MONDO MONDO:0015184,MONDO:0020169 subclass @@ -59811,12 +61300,14 @@ MONDO:0010182 hypercarotenemia and vitamin a deficiency, autosomal recessive OMI MONDO:0010182 hypercarotenemia and vitamin a deficiency, autosomal recessive UMLS UMLS:C2678266 one_to_one MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF DOID DOID:0050717 one_to_one MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF GARD GARD:0003584 one_to_one +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF GO GO:0007041,GO:0015889 disease_has_basis_in_dysfunction_of MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF ICD10 ICD10:E72.1 inexact MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MESH MESH:C564747 one_to_one MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF MONDO MONDO:0016826 subclass MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF OMIM OMIM:277380 one_to_one MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF Orphanet Orphanet:79284 one_to_one MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF SCTID SCTID:80887004 one_to_one +MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF http http://identifiers.org/hgnc/23038 disease_has_basis_in_dysfunction_of 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 @@ -59825,6 +61316,7 @@ MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NCIT NCIT:C142 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 MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC SCTID SCTID:74653006 one_to_one +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC http http://identifiers.org/hgnc/24525 disease_has_basis_in_dysfunction_of MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD DOID DOID:0050716 one_to_one MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD GARD GARD:0003582 one_to_one MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD ICD10 ICD10:E72.1 inexact @@ -59833,18 +61325,21 @@ MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO MONDO:00 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD OMIM OMIM:277410 one_to_one MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD Orphanet Orphanet:79283 one_to_one MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD SCTID SCTID:31220004 one_to_one +MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD http http://identifiers.org/hgnc/25221 disease_has_basis_in_dysfunction_of MONDO:0010186 vitamin D-dependent rickets, type 2A GO GO:0008434 disease_has_basis_in_disruption_of -MONDO:0010186 vitamin D-dependent rickets, type 2A MONDO MONDO:0019642,MONDO:0021196 subclass +MONDO:0010186 vitamin D-dependent rickets, type 2A MONDO MONDO:0019642,MONDO:0044977 subclass MONDO:0010186 vitamin D-dependent rickets, type 2A NCIT NCIT:C131075 one_to_one MONDO:0010186 vitamin D-dependent rickets, type 2A OMIM OMIM:277440 one_to_one MONDO:0010186 vitamin D-dependent rickets, type 2A SCTID SCTID:237894002 one_to_one MONDO:0010186 vitamin D-dependent rickets, type 2A UMLS UMLS:C0342646 one_to_one +MONDO:0010186 vitamin D-dependent rickets, type 2A http http://identifiers.org/hgnc/12679 disease_has_basis_in_dysfunction_of MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 ICD10 ICD10:D68.2 inexact MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 MESH MESH:C564741 one_to_one MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO MONDO:0000184,MONDO:0017760,MONDO:0021181 subclass MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 OMIM OMIM:277450 one_to_one MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 Orphanet Orphanet:98434 one_to_one MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 UMLS UMLS:C1848534 one_to_one +MONDO:0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 http http://identifiers.org/hgnc/4247 disease_has_basis_in_dysfunction_of MONDO:0010188 familial isolated deficiency of vitamin E DOID DOID:0090028 one_to_one MONDO:0010188 familial isolated deficiency of vitamin E GARD GARD:0008595 one_to_one MONDO:0010188 familial isolated deficiency of vitamin E ICD10 ICD10:G11.1 inexact @@ -59855,6 +61350,7 @@ MONDO:0010188 familial isolated deficiency of vitamin E MedDRA MedDRA:10047631 o MONDO:0010188 familial isolated deficiency of vitamin E OMIM OMIM:277460 one_to_one MONDO:0010188 familial isolated deficiency of vitamin E Orphanet Orphanet:96 one_to_one MONDO:0010188 familial isolated deficiency of vitamin E SCTID SCTID:702442008 one_to_one +MONDO:0010188 familial isolated deficiency of vitamin E http http://identifiers.org/hgnc/12404 disease_has_basis_in_dysfunction_of MONDO:0010189 vitiligo, progressive, with mental retardation and urethral duplication MESH MESH:C564739 one_to_one MONDO:0010189 vitiligo, progressive, with mental retardation and urethral duplication MONDO MONDO:0003847 subclass MONDO:0010189 vitiligo, progressive, with mental retardation and urethral duplication OMIM OMIM:277465 one_to_one @@ -59864,6 +61360,7 @@ MONDO:0010190 pontocerebellar hypoplasia type 2A GARD GARD:0003631 one_to_one MONDO:0010190 pontocerebellar hypoplasia type 2A MESH MESH:C564738 one_to_one MONDO:0010190 pontocerebellar hypoplasia type 2A MONDO MONDO:0016759 subclass MONDO:0010190 pontocerebellar hypoplasia type 2A OMIM OMIM:277470 one_to_one +MONDO:0010190 pontocerebellar hypoplasia type 2A http http://identifiers.org/hgnc/27561 disease_has_basis_in_dysfunction_of MONDO:0010191 von Willebrand disease 3 DOID DOID:0111054 one_to_one MONDO:0010191 von Willebrand disease 3 ICD10 ICD10:D68.0 inexact MONDO:0010191 von Willebrand disease 3 MESH MESH:D056729 one_to_one @@ -59873,9 +61370,11 @@ MONDO:0010191 von Willebrand disease 3 OMIM OMIM:277480 one_to_one MONDO:0010191 von Willebrand disease 3 Orphanet Orphanet:166096 one_to_one MONDO:0010191 von Willebrand disease 3 SCTID SCTID:128108002 one_to_one MONDO:0010191 von Willebrand disease 3 UMLS UMLS:C1264041 one_to_one +MONDO:0010191 von Willebrand disease 3 http http://identifiers.org/hgnc/12726 disease_has_basis_in_dysfunction_of MONDO:0010192 Waardenburg syndrome type 4A DOID DOID:0110953 one_to_one MONDO:0010192 Waardenburg syndrome type 4A MONDO MONDO:0018094,MONDO:0019518 subclass MONDO:0010192 Waardenburg syndrome type 4A OMIM OMIM:277580 one_to_one +MONDO:0010192 Waardenburg syndrome type 4A http http://identifiers.org/hgnc/3180 disease_has_basis_in_dysfunction_of MONDO:0010193 Weaver syndrome DOID DOID:14731 one_to_one MONDO:0010193 Weaver syndrome GARD GARD:0007878 one_to_one MONDO:0010193 Weaver syndrome GTR GTR:AN0102079,GTR:AN0102080 inexact @@ -59888,8 +61387,10 @@ MONDO:0010193 Weaver syndrome OMIM OMIM:277590 one_to_one MONDO:0010193 Weaver syndrome Orphanet Orphanet:3447 one_to_one MONDO:0010193 Weaver syndrome SCTID SCTID:63119004 one_to_one MONDO:0010193 Weaver syndrome UMLS UMLS:C0265210,UMLS:CN036342 inexact +MONDO:0010193 Weaver syndrome http http://identifiers.org/hgnc/3527 disease_has_basis_in_dysfunction_of MONDO:0010194 Weill-Marchesani syndrome 1 MONDO MONDO:0018096 subclass MONDO:0010194 Weill-Marchesani syndrome 1 OMIM OMIM:277600 one_to_one +MONDO:0010194 Weill-Marchesani syndrome 1 http http://identifiers.org/hgnc/13201 disease_has_basis_in_dysfunction_of MONDO:0010195 Weissenbacher-Zweymuller syndrome DOID DOID:4258 one_to_one MONDO:0010195 Weissenbacher-Zweymuller syndrome GARD GARD:0004351 one_to_one MONDO:0010195 Weissenbacher-Zweymuller syndrome ICD10 ICD10:Q77.7 inexact @@ -59898,6 +61399,7 @@ MONDO:0010195 Weissenbacher-Zweymuller syndrome MONDO MONDO:0015335,MONDO:001676 MONDO:0010195 Weissenbacher-Zweymuller syndrome OMIM OMIM:277610 one_to_one MONDO:0010195 Weissenbacher-Zweymuller syndrome Orphanet Orphanet:3450 one_to_one MONDO:0010195 Weissenbacher-Zweymuller syndrome SCTID SCTID:699313003 one_to_one +MONDO:0010195 Weissenbacher-Zweymuller syndrome http http://identifiers.org/hgnc/2187 disease_has_basis_in_dysfunction_of MONDO:0010196 Werner syndrome DOID DOID:5688 one_to_one MONDO:0010196 Werner syndrome GARD GARD:0007885 one_to_one MONDO:0010196 Werner syndrome ICD10 ICD10:E34.8 inexact @@ -59910,6 +61412,7 @@ MONDO:0010196 Werner syndrome OMIM OMIM:277700 one_to_one MONDO:0010196 Werner syndrome Orphanet Orphanet:902 one_to_one MONDO:0010196 Werner syndrome SCTID SCTID:51626007 one_to_one MONDO:0010196 Werner syndrome UMLS UMLS:C0043119 one_to_one +MONDO:0010196 Werner syndrome http http://identifiers.org/hgnc/12791 disease_has_basis_in_dysfunction_of MONDO:0010197 whistling face syndrome, recessive form GARD GARD:0010024 one_to_one MONDO:0010197 whistling face syndrome, recessive form MESH MESH:C536699 one_to_one MONDO:0010197 whistling face syndrome, recessive form MONDO MONDO:0008675 subclass @@ -59936,17 +61439,19 @@ MONDO:0010200 Wilson disease DOID DOID:893 one_to_one MONDO:0010200 Wilson disease GARD GARD:0007893 one_to_one MONDO:0010200 Wilson disease ICD10 ICD10:E83.0,ICD10:E83.01 inexact MONDO:0010200 Wilson disease MESH MESH:D006527 one_to_one -MONDO:0010200 Wilson disease MONDO MONDO:0004689,MONDO:0015115,MONDO:0015955,MONDO:0016133,MONDO:0016400,MONDO:0017644,MONDO:0017663,MONDO:0017762,MONDO:0018265,MONDO:0019058,MONDO:0019743,MONDO:0020016,MONDO:0020257,MONDO:0020279,MONDO:0020280 subclass +MONDO:0010200 Wilson disease MONDO MONDO:0004689,MONDO:0015115,MONDO:0015955,MONDO:0016133,MONDO:0016400,MONDO:0017644,MONDO:0017663,MONDO:0017762,MONDO:0018265,MONDO:0019058,MONDO:0019743,MONDO:0020016,MONDO:0020257,MONDO:0020279,MONDO:0020280,MONDO:0044807 subclass MONDO:0010200 Wilson disease MedDRA MedDRA:10019819 one_to_one MONDO:0010200 Wilson disease NCIT NCIT:C84756 one_to_one MONDO:0010200 Wilson disease OMIM OMIM:277900 one_to_one MONDO:0010200 Wilson disease Orphanet Orphanet:905 one_to_one MONDO:0010200 Wilson disease UMLS UMLS:C0019202 one_to_one +MONDO:0010200 Wilson disease http http://identifiers.org/hgnc/870 disease_has_basis_in_dysfunction_of MONDO:0010201 Winchester syndrome GARD GARD:0007894 one_to_one MONDO:0010201 Winchester syndrome ICD9 ICD9:733.29 inexact MONDO:0010201 Winchester syndrome MONDO MONDO:0018104,MONDO:0019410 subclass MONDO:0010201 Winchester syndrome OMIM OMIM:277950 one_to_one 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 @@ -59962,16 +61467,17 @@ MONDO:0010204 lysosomal acid lipase deficiency MONDO MONDO:0015905,MONDO:0019245 MONDO:0010204 lysosomal acid lipase deficiency OMIM OMIM:278000 one_to_one MONDO:0010204 lysosomal acid lipase deficiency Orphanet Orphanet:275761 one_to_one MONDO:0010204 lysosomal acid lipase deficiency SCTID SCTID:715923003 one_to_one +MONDO:0010204 lysosomal acid lipase deficiency http http://identifiers.org/hgnc/6617 disease_has_basis_in_dysfunction_of MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis MESH MESH:C564736 one_to_one MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis MONDO MONDO:0019148 subclass MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis OMIM OMIM:278100 one_to_one MONDO:0010205 Wolman disease with hypolipoproteinemia and acanthocytosis UMLS UMLS:C1848436 one_to_one MONDO:0010206 hypotrichosis 8 DOID DOID:0110705 one_to_one MONDO:0010206 hypotrichosis 8 MESH MESH:C566950 one_to_one -MONDO:0010206 hypotrichosis 8 MONDO MONDO:0003037,MONDO:0008686,MONDO:0018914,MONDO:0021034 subclass -MONDO:0010206 hypotrichosis 8 NCBIGene NCBIGene:10161 disease_has_basis_in_dysfunction_of +MONDO:0010206 hypotrichosis 8 MONDO MONDO:0003037,MONDO:0008686,MONDO:0013514,MONDO:0018914,MONDO:0021034 subclass MONDO:0010206 hypotrichosis 8 OMIM OMIM:278150 one_to_one MONDO:0010206 hypotrichosis 8 UMLS UMLS:C3279470 one_to_one +MONDO:0010206 hypotrichosis 8 http http://identifiers.org/hgnc/15520 disease_has_basis_in_dysfunction_of MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome GARD GARD:0005594 one_to_one MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome MESH MESH:C536746 one_to_one MONDO:0010207 woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome MONDO MONDO:0018558 subclass @@ -59987,6 +61493,7 @@ MONDO:0010208 wrinkly skin syndrome OMIM OMIM:278250 one_to_one MONDO:0010208 wrinkly skin syndrome Orphanet Orphanet:2834 one_to_one MONDO:0010208 wrinkly skin syndrome SCTID SCTID:238875009 one_to_one MONDO:0010208 wrinkly skin syndrome UMLS UMLS:C0406587 one_to_one +MONDO:0010208 wrinkly skin syndrome http http://identifiers.org/hgnc/18481 disease_has_basis_in_dysfunction_of MONDO:0010209 xanthinuria type I GARD GARD:0005621 one_to_one MONDO:0010209 xanthinuria type I ICD10 ICD10:E79.8 inexact MONDO:0010209 xanthinuria type I MESH MESH:C562584 one_to_one @@ -59994,15 +61501,16 @@ MONDO:0010209 xanthinuria type I MONDO MONDO:0018106 subclass MONDO:0010209 xanthinuria type I OMIM OMIM:278300 one_to_one MONDO:0010209 xanthinuria type I Orphanet Orphanet:93601 one_to_one MONDO:0010209 xanthinuria type I SCTID SCTID:72682008 one_to_one +MONDO:0010209 xanthinuria type I http http://identifiers.org/hgnc/12805 disease_has_basis_in_dysfunction_of MONDO:0010210 xeroderma pigmentosum group A DOID DOID:0110843 one_to_one MONDO:0010210 xeroderma pigmentosum group A GARD GARD:0005624 one_to_one MONDO:0010210 xeroderma pigmentosum group A ICD10 ICD10:Q82.1 inexact MONDO:0010210 xeroderma pigmentosum group A MONDO MONDO:0019600 subclass -MONDO:0010210 xeroderma pigmentosum group A NCBIGene NCBIGene:7507 disease_has_basis_in_dysfunction_of MONDO:0010210 xeroderma pigmentosum group A NCIT NCIT:C3965 one_to_one MONDO:0010210 xeroderma pigmentosum group A OMIM OMIM:278700 one_to_one MONDO:0010210 xeroderma pigmentosum group A SCTID SCTID:43477006 one_to_one MONDO:0010210 xeroderma pigmentosum group A UMLS UMLS:C0268135 one_to_one +MONDO:0010210 xeroderma pigmentosum group A http http://identifiers.org/hgnc/12814 disease_has_basis_in_dysfunction_of MONDO:0010211 xeroderma pigmentosum group C DOID DOID:0110844 one_to_one MONDO:0010211 xeroderma pigmentosum group C GARD GARD:0005626 one_to_one MONDO:0010211 xeroderma pigmentosum group C ICD10 ICD10:Q82.1 inexact @@ -60012,14 +61520,15 @@ MONDO:0010211 xeroderma pigmentosum group C NCIT NCIT:C114770 one_to_one MONDO:0010211 xeroderma pigmentosum group C OMIM OMIM:278720 one_to_one MONDO:0010211 xeroderma pigmentosum group C SCTID SCTID:25784009 one_to_one MONDO:0010211 xeroderma pigmentosum group C UMLS UMLS:C2752147 one_to_one +MONDO:0010211 xeroderma pigmentosum group C http http://identifiers.org/hgnc/12816 disease_has_basis_in_dysfunction_of MONDO:0010212 xeroderma pigmentosum group D DOID DOID:0110845 one_to_one MONDO:0010212 xeroderma pigmentosum group D ICD10 ICD10:Q82.1 inexact MONDO:0010212 xeroderma pigmentosum group D MESH MESH:C562591 one_to_one MONDO:0010212 xeroderma pigmentosum group D MONDO MONDO:0016354,MONDO:0019600 subclass -MONDO:0010212 xeroderma pigmentosum group D NCBIGene NCBIGene:2068 disease_has_basis_in_dysfunction_of MONDO:0010212 xeroderma pigmentosum group D NCIT NCIT:C3967 one_to_one MONDO:0010212 xeroderma pigmentosum group D OMIM OMIM:278730 one_to_one MONDO:0010212 xeroderma pigmentosum group D SCTID SCTID:68637004 one_to_one +MONDO:0010212 xeroderma pigmentosum group D http http://identifiers.org/hgnc/3434 disease_has_basis_in_dysfunction_of MONDO:0010213 xeroderma pigmentosum group E DOID DOID:0110846 one_to_one MONDO:0010213 xeroderma pigmentosum group E GARD GARD:0005627 one_to_one MONDO:0010213 xeroderma pigmentosum group E ICD10 ICD10:Q82.1 inexact @@ -60029,6 +61538,7 @@ MONDO:0010213 xeroderma pigmentosum group E NCIT NCIT:C114771 one_to_one MONDO:0010213 xeroderma pigmentosum group E OMIM OMIM:278740 one_to_one MONDO:0010213 xeroderma pigmentosum group E SCTID SCTID:56048001 one_to_one MONDO:0010213 xeroderma pigmentosum group E UMLS UMLS:C1848411 one_to_one +MONDO:0010213 xeroderma pigmentosum group E http http://identifiers.org/hgnc/2718 disease_has_basis_in_dysfunction_of MONDO:0010214 xeroderma pigmentosum variant type DOID DOID:0110847 one_to_one MONDO:0010214 xeroderma pigmentosum variant type GARD GARD:0005630 one_to_one MONDO:0010214 xeroderma pigmentosum variant type ICD10 ICD10:Q82.1 inexact @@ -60038,25 +61548,26 @@ MONDO:0010214 xeroderma pigmentosum variant type NCIT NCIT:C141367 one_to_one MONDO:0010214 xeroderma pigmentosum variant type OMIM OMIM:278750 one_to_one MONDO:0010214 xeroderma pigmentosum variant type Orphanet Orphanet:90342 one_to_one MONDO:0010214 xeroderma pigmentosum variant type UMLS UMLS:C1848410 one_to_one +MONDO:0010214 xeroderma pigmentosum variant type http http://identifiers.org/hgnc/9181 disease_has_basis_in_dysfunction_of MONDO:0010215 xeroderma pigmentosum group F DOID DOID:0110848 one_to_one MONDO:0010215 xeroderma pigmentosum group F GARD GARD:0005628 one_to_one MONDO:0010215 xeroderma pigmentosum group F ICD10 ICD10:Q82.1 inexact MONDO:0010215 xeroderma pigmentosum group F MESH MESH:C562592 one_to_one MONDO:0010215 xeroderma pigmentosum group F MONDO MONDO:0016354,MONDO:0019600 subclass -MONDO:0010215 xeroderma pigmentosum group F NCBIGene NCBIGene:2072 disease_has_basis_in_dysfunction_of MONDO:0010215 xeroderma pigmentosum group F NCIT NCIT:C3968 one_to_one MONDO:0010215 xeroderma pigmentosum group F OMIM OMIM:278760 one_to_one MONDO:0010215 xeroderma pigmentosum group F SCTID SCTID:42530008 one_to_one +MONDO:0010215 xeroderma pigmentosum group F http http://identifiers.org/hgnc/3436 disease_has_basis_in_dysfunction_of MONDO:0010216 xeroderma pigmentosum group G DOID DOID:0110849 one_to_one MONDO:0010216 xeroderma pigmentosum group G GARD GARD:0005629 one_to_one MONDO:0010216 xeroderma pigmentosum group G ICD10 ICD10:Q82.1 inexact MONDO:0010216 xeroderma pigmentosum group G MESH MESH:C562593 one_to_one MONDO:0010216 xeroderma pigmentosum group G MONDO MONDO:0008926,MONDO:0016354,MONDO:0019600 subclass -MONDO:0010216 xeroderma pigmentosum group G NCBIGene NCBIGene:2073 disease_has_basis_in_dysfunction_of MONDO:0010216 xeroderma pigmentosum group G NCIT NCIT:C3969 one_to_one MONDO:0010216 xeroderma pigmentosum group G OMIM OMIM:278780 one_to_one MONDO:0010216 xeroderma pigmentosum group G SCTID SCTID:36454001 one_to_one MONDO:0010216 xeroderma pigmentosum group G UMLS UMLS:C0268141 one_to_one +MONDO:0010216 xeroderma pigmentosum group G http http://identifiers.org/hgnc/3437 disease_has_basis_in_dysfunction_of MONDO:0010217 de Sanctis-Cacchione syndrome GARD GARD:0008276 one_to_one MONDO:0010217 de Sanctis-Cacchione syndrome ICD9 ICD9:759.89 inexact MONDO:0010217 de Sanctis-Cacchione syndrome MESH MESH:C535992 one_to_one @@ -60066,6 +61577,7 @@ MONDO:0010217 de Sanctis-Cacchione syndrome OMIM OMIM:278800 one_to_one MONDO:0010217 de Sanctis-Cacchione syndrome Orphanet Orphanet:1569 one_to_one MONDO:0010217 de Sanctis-Cacchione syndrome SCTID SCTID:414673004 one_to_one MONDO:0010217 de Sanctis-Cacchione syndrome UMLS UMLS:C0265201,UMLS:CN199649 inexact +MONDO:0010217 de Sanctis-Cacchione syndrome http http://identifiers.org/hgnc/3438 disease_has_basis_in_dysfunction_of MONDO:0010218 46,XX sex reversal 2 MONDO MONDO:0010766 subclass MONDO:0010218 46,XX sex reversal 2 OMIM OMIM:278850 one_to_one MONDO:0010218 46,XX sex reversal 2 UMLS UMLS:C2749215 one_to_one @@ -60091,11 +61603,13 @@ MONDO:0010221 CHIME syndrome OMIM OMIM:280000 one_to_one MONDO:0010221 CHIME syndrome Orphanet Orphanet:3474 one_to_one MONDO:0010221 CHIME syndrome SCTID SCTID:720639008 one_to_one MONDO:0010221 CHIME syndrome UMLS UMLS:C1848392 one_to_one +MONDO:0010221 CHIME syndrome http http://identifiers.org/hgnc/8966 disease_has_basis_in_dysfunction_of MONDO:0010222 X-linked Opitz G/BBB syndrome HP HP:0001417 has_modifier MONDO:0010222 X-linked Opitz G/BBB syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010222 X-linked Opitz G/BBB syndrome MONDO MONDO:0000425,MONDO:0017138 subclass MONDO:0010222 X-linked Opitz G/BBB syndrome OMIM OMIM:300000 one_to_one MONDO:0010222 X-linked Opitz G/BBB syndrome Orphanet Orphanet:306597 one_to_one +MONDO:0010222 X-linked Opitz G/BBB syndrome http http://identifiers.org/hgnc/7095 disease_has_basis_in_dysfunction_of MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency MESH MESH:C564729 one_to_one MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency MONDO MONDO:0010622 subclass MONDO:0010223 ichthyosis, X-linked, without steroid sulfatase deficiency OMIM OMIM:300001 one_to_one @@ -60107,23 +61621,26 @@ MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO MONDO:0 MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome OMIM OMIM:300004 one_to_one MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome Orphanet Orphanet:2508 one_to_one MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome UMLS UMLS:C0796124 one_to_one +MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome http http://identifiers.org/hgnc/18060 disease_has_basis_in_dysfunction_of MONDO:0010225 Dent disease type 1 ICD10 ICD10:N25.8 inexact MONDO:0010225 Dent disease type 1 MONDO MONDO:0015612 subclass MONDO:0010225 Dent disease type 1 OMIM OMIM:300009 one_to_one MONDO:0010225 Dent disease type 1 Orphanet Orphanet:93622 one_to_one MONDO:0010225 Dent disease type 1 SCTID SCTID:717789008 one_to_one MONDO:0010225 Dent disease type 1 UMLS UMLS:C4305530,UMLS:CN206679 inexact +MONDO:0010225 Dent disease type 1 http http://identifiers.org/hgnc/2023 disease_has_basis_in_dysfunction_of MONDO:0010226 46,XY sex reversal 2 MESH MESH:C535601 one_to_one MONDO:0010226 46,XY sex reversal 2 MONDO MONDO:0010765,MONDO:0016674,MONDO:0019313,MONDO:0024573 subclass MONDO:0010226 46,XY sex reversal 2 OMIM OMIM:300018 one_to_one MONDO:0010226 46,XY sex reversal 2 UMLS UMLS:C1848296 one_to_one +MONDO:0010226 46,XY sex reversal 2 http http://identifiers.org/hgnc/7960 disease_has_basis_in_dysfunction_of MONDO:0010227 retinitis pigmentosa 3 DOID DOID:0110414 one_to_one MONDO:0010227 retinitis pigmentosa 3 ICD10 ICD10:H35.5 inexact MONDO:0010227 retinitis pigmentosa 3 MESH MESH:C564520 one_to_one MONDO:0010227 retinitis pigmentosa 3 MONDO MONDO:0019200 subclass -MONDO:0010227 retinitis pigmentosa 3 NCBIGene NCBIGene:6103 disease_has_basis_in_dysfunction_of MONDO:0010227 retinitis pigmentosa 3 OMIM OMIM:300029 one_to_one MONDO:0010227 retinitis pigmentosa 3 UMLS UMLS:C1845667 one_to_one +MONDO:0010227 retinitis pigmentosa 3 http http://identifiers.org/hgnc/10295 disease_has_basis_in_dysfunction_of MONDO:0010228 DFNX3 GARD GARD:0001707 one_to_one MONDO:0010228 DFNX3 MESH MESH:C564727 one_to_one MONDO:0010228 DFNX3 MONDO MONDO:0019586 subclass @@ -60145,11 +61662,13 @@ MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-link MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MESH MESH:C535532 one_to_one MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MONDO MONDO:0014097,MONDO:0017574 subclass MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked OMIM OMIM:300048 one_to_one +MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010233 heterotopia, periventricular, X-linked dominant GARD GARD:0007371 one_to_one MONDO:0010233 heterotopia, periventricular, X-linked dominant ICD9 ICD9:742.4 inexact MONDO:0010233 heterotopia, periventricular, X-linked dominant MONDO MONDO:0020341 subclass MONDO:0010233 heterotopia, periventricular, X-linked dominant OMIM OMIM:300049 one_to_one MONDO:0010233 heterotopia, periventricular, X-linked dominant SCTID SCTID:448227009 one_to_one +MONDO:0010233 heterotopia, periventricular, X-linked dominant http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome DOID DOID:0060827 one_to_one MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome GARD GARD:0003506 one_to_one MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome ICD10 ICD10:F71.1 one_to_one @@ -60158,6 +61677,7 @@ MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome OMIM OMIM:300055 one_to_one MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome Orphanet Orphanet:3077 one_to_one MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome SCTID SCTID:702356009 one_to_one +MONDO:0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome http http://identifiers.org/hgnc/6990 disease_has_basis_in_dysfunction_of MONDO:0010236 MRX14 GARD GARD:0008557 one_to_one MONDO:0010236 MRX14 MESH MESH:C537454 one_to_one MONDO:0010236 MRX14 MONDO MONDO:0019181 subclass @@ -60173,6 +61693,7 @@ MONDO:0010238 deafness, X-linked 4 MESH MESH:C564723 one_to_one MONDO:0010238 deafness, X-linked 4 MONDO MONDO:0019586 subclass MONDO:0010238 deafness, X-linked 4 OMIM OMIM:300066 one_to_one MONDO:0010238 deafness, X-linked 4 UMLS UMLS:C1848204 one_to_one +MONDO:0010238 deafness, X-linked 4 http http://identifiers.org/hgnc/11122 disease_has_basis_in_dysfunction_of MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation GARD GARD:0006914 one_to_one MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation ICD10 ICD10:Q04.3 inexact MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation MONDO MONDO:0015146,MONDO:0020119,MONDO:0020491 subclass @@ -60180,11 +61701,12 @@ MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation OMIM OMIM:3 MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation Orphanet Orphanet:2148 one_to_one MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation SCTID SCTID:715780008 one_to_one MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation UMLS UMLS:C1848199,UMLS:C4275012 inexact +MONDO:0010239 lissencephaly type 1 due to doublecortin gene mutation http http://identifiers.org/hgnc/2714 disease_has_basis_in_dysfunction_of MONDO:0010241 congenital stationary night blindness 2A DOID DOID:0110871 one_to_one MONDO:0010241 congenital stationary night blindness 2A MONDO MONDO:0016293,MONDO:0044749 subclass -MONDO:0010241 congenital stationary night blindness 2A NCBIGene NCBIGene:778 disease_has_basis_in_dysfunction_of MONDO:0010241 congenital stationary night blindness 2A OMIM OMIM:300071 one_to_one MONDO:0010241 congenital stationary night blindness 2A UMLS UMLS:C1848172 one_to_one +MONDO:0010241 congenital stationary night blindness 2A http http://identifiers.org/hgnc/1393 disease_has_basis_in_dysfunction_of MONDO:0010242 fetal akinesia syndrome, X-linked GARD GARD:0002293 one_to_one MONDO:0010242 fetal akinesia syndrome, X-linked MESH MESH:C537921 one_to_one MONDO:0010242 fetal akinesia syndrome, X-linked MONDO MONDO:0008824 subclass @@ -60213,12 +61735,14 @@ MONDO:0010246 early infantile epileptic encephalopathy 9 MONDO MONDO:0016021,MON MONDO:0010246 early infantile epileptic encephalopathy 9 OMIM OMIM:300088 one_to_one MONDO:0010246 early infantile epileptic encephalopathy 9 Orphanet Orphanet:101039 one_to_one MONDO:0010246 early infantile epileptic encephalopathy 9 UMLS UMLS:C1848137 one_to_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 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 +MONDO:0010247 X-linked cerebral adrenoleukodystrophy http http://identifiers.org/hgnc/61 disease_has_basis_in_dysfunction_of MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia GARD GARD:0004979 one_to_one MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia HP HP:0001417 has_modifier MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia ICD10 ICD10:Q77.7 inexact @@ -60227,16 +61751,19 @@ MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia MONDO MONDO:0000425,MOND MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia OMIM OMIM:300106 one_to_one MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia Orphanet Orphanet:93349 one_to_one MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia UMLS UMLS:C1848097 one_to_one +MONDO:0010248 X-linked spondyloepimetaphyseal dysplasia http http://identifiers.org/hgnc/1044 disease_has_basis_in_dysfunction_of MONDO:0010249 X-linked B cell surface antigen, mouse, homolog-like 1 MONDO MONDO:0003847 subclass MONDO:0010249 X-linked B cell surface antigen, mouse, homolog-like 1 OMIM OMIM:300113 one_to_one MONDO:0010250 MRX49 MONDO MONDO:0019181 subclass MONDO:0010250 MRX49 OMIM OMIM:300114 one_to_one +MONDO:0010250 MRX49 http http://identifiers.org/hgnc/2022 disease_has_basis_in_dysfunction_of MONDO:0010251 MRX50 MESH MESH:C564713 one_to_one MONDO:0010251 MRX50 MONDO MONDO:0019181 subclass MONDO:0010251 MRX50 OMIM OMIM:300115 one_to_one MONDO:0010251 MRX50 UMLS UMLS:C1848087 one_to_one MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism MONDO MONDO:0010615 subclass MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism OMIM OMIM:300123 one_to_one +MONDO:0010252 intellectual disability, X-linked, with panhypopituitarism http http://identifiers.org/hgnc/11199 disease_has_basis_in_dysfunction_of MONDO:0010253 migraine, familial typical, susceptibility to, 2 MONDO MONDO:0000700 subclass MONDO:0010253 migraine, familial typical, susceptibility to, 2 OMIM OMIM:300125 one_to_one MONDO:0010254 hematopoietic stem cell kinetics, control of MONDO MONDO:0003847 subclass @@ -60246,6 +61773,7 @@ MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to MONDO:0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UMLS UMLS:C1848042 one_to_one MONDO:0010256 intellectual disability, X-linked 21 MONDO MONDO:0019181 subclass MONDO:0010256 intellectual disability, X-linked 21 OMIM OMIM:300143 one_to_one +MONDO:0010256 intellectual disability, X-linked 21 http http://identifiers.org/hgnc/5996 disease_has_basis_in_dysfunction_of MONDO:0010257 HPCX1 MONDO MONDO:0023122 subclass MONDO:0010257 HPCX1 OMIM OMIM:300147 one_to_one MONDO:0010257 HPCX1 UMLS UMLS:C1846279 one_to_one @@ -60253,7 +61781,7 @@ MONDO:0010258 MEHMO syndrome DOID DOID:0060801 one_to_one MONDO:0010258 MEHMO syndrome GARD GARD:0009178 one_to_one MONDO:0010258 MEHMO syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010258 MEHMO syndrome MESH MESH:C537451 one_to_one -MONDO:0010258 MEHMO syndrome MONDO MONDO:0016402,MONDO:0016403,MONDO:0016565,MONDO:0020119 subclass +MONDO:0010258 MEHMO syndrome MONDO MONDO:0015653,MONDO:0016402,MONDO:0016403,MONDO:0016565,MONDO:0020119 subclass MONDO:0010258 MEHMO syndrome OMIM OMIM:300148 one_to_one MONDO:0010258 MEHMO syndrome Orphanet Orphanet:85282 one_to_one MONDO:0010258 MEHMO syndrome SCTID SCTID:722037004 one_to_one @@ -60270,6 +61798,7 @@ MONDO:0010260 ACLLX OMIM OMIM:300158 one_to_one MONDO:0010260 ACLLX UMLS UMLS:C1846273 one_to_one MONDO:0010261 microphthalmia, syndromic 2 MONDO MONDO:0016073 subclass MONDO:0010261 microphthalmia, syndromic 2 OMIM OMIM:300166 one_to_one +MONDO:0010261 microphthalmia, syndromic 2 http http://identifiers.org/hgnc/20893 disease_has_basis_in_dysfunction_of MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses GARD GARD:0009601 one_to_one MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses MESH MESH:C537159 one_to_one MONDO:0010262 hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses MONDO MONDO:0003847 subclass @@ -60291,16 +61820,19 @@ 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 MONDO:0010264 X-linked adrenal hypoplasia congenita SCTID SCTID:93235007 one_to_one MONDO:0010264 X-linked adrenal hypoplasia congenita UMLS UMLS:C0342482 one_to_one +MONDO:0010264 X-linked adrenal hypoplasia congenita http http://identifiers.org/hgnc/7960 disease_has_basis_in_dysfunction_of MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 ICD10 ICD10:Q87.3 inexact MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 MESH MESH:C564567 one_to_one MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 MONDO MONDO:0010731 subclass MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 OMIM OMIM:300209 one_to_one MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 Orphanet Orphanet:79022 one_to_one MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 UMLS UMLS:C1846175 one_to_one +MONDO:0010265 Simpson-Golabi-Behmel syndrome type 2 http http://identifiers.org/hgnc/2567 disease_has_basis_in_dysfunction_of MONDO:0010266 intellectual disability, X-linked 58 MESH MESH:C564566 one_to_one MONDO:0010266 intellectual disability, X-linked 58 MONDO MONDO:0019181 subclass MONDO:0010266 intellectual disability, X-linked 58 OMIM OMIM:300210 one_to_one MONDO:0010266 intellectual disability, X-linked 58 UMLS UMLS:C1846174 one_to_one +MONDO:0010266 intellectual disability, X-linked 58 http http://identifiers.org/hgnc/11854 disease_has_basis_in_dysfunction_of MONDO:0010267 EMWX MESH MESH:C564565 one_to_one MONDO:0010267 EMWX MONDO MONDO:0003847 subclass MONDO:0010267 EMWX OMIM OMIM:300211 one_to_one @@ -60312,6 +61844,7 @@ MONDO:0010268 X-linked lissencephaly with abnormal genitalia MONDO MONDO:0015147 MONDO:0010268 X-linked lissencephaly with abnormal genitalia OMIM OMIM:300215 one_to_one MONDO:0010268 X-linked lissencephaly with abnormal genitalia Orphanet Orphanet:452 one_to_one MONDO:0010268 X-linked lissencephaly with abnormal genitalia SCTID SCTID:717632002 one_to_one +MONDO:0010268 X-linked lissencephaly with abnormal genitalia http http://identifiers.org/hgnc/18060 disease_has_basis_in_dysfunction_of MONDO:0010269 Coats disease COHD COHD:373756 one_to_one MONDO:0010269 Coats disease DOID DOID:7765 one_to_one MONDO:0010269 Coats disease GARD GARD:0006121 one_to_one @@ -60373,6 +61906,7 @@ MONDO:0010277 syndromic X-linked intellectual disability Shashi type OMIM OMIM:3 MONDO:0010277 syndromic X-linked intellectual disability Shashi type Orphanet Orphanet:85286 one_to_one MONDO:0010277 syndromic X-linked intellectual disability Shashi type SCTID SCTID:718900002 one_to_one MONDO:0010277 syndromic X-linked intellectual disability Shashi type UMLS UMLS:C1846145,UMLS:C4305085 inexact +MONDO:0010277 syndromic X-linked intellectual disability Shashi type http http://identifiers.org/hgnc/9910 disease_has_basis_in_dysfunction_of MONDO:0010278 Christianson syndrome DOID DOID:0060825 one_to_one MONDO:0010278 Christianson syndrome GARD GARD:0010572 one_to_one MONDO:0010278 Christianson syndrome ICD10 ICD10:Q87.8 inexact @@ -60383,12 +61917,14 @@ MONDO:0010278 Christianson syndrome OMIM OMIM:300243 one_to_one MONDO:0010278 Christianson syndrome Orphanet Orphanet:85278 one_to_one MONDO:0010278 Christianson syndrome SCTID SCTID:702354007 one_to_one MONDO:0010278 Christianson syndrome UMLS UMLS:C2678194 one_to_one +MONDO:0010278 Christianson syndrome http http://identifiers.org/hgnc/11079 disease_has_basis_in_dysfunction_of MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome ICD10 ICD10:Q87.2 inexact MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MESH MESH:C564554 one_to_one MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome MONDO MONDO:0015960,MONDO:0019043,MONDO:0019289,MONDO:0019690,MONDO:0019695 subclass MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome OMIM OMIM:300244 one_to_one MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome Orphanet Orphanet:88630 one_to_one MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome UMLS UMLS:C1846129 one_to_one +MONDO:0010279 terminal osseous dysplasia-pigmentary defects syndrome http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010280 ptosis, hereditary congenital 2 MESH MESH:C564553 one_to_one MONDO:0010280 ptosis, hereditary congenital 2 MONDO MONDO:0008340 subclass MONDO:0010280 ptosis, hereditary congenital 2 OMIM OMIM:300245 one_to_one @@ -60404,6 +61940,7 @@ MONDO:0010281 Danon disease OMIM OMIM:300257 one_to_one MONDO:0010281 Danon disease Orphanet Orphanet:34587 one_to_one MONDO:0010281 Danon disease SCTID SCTID:419097006 one_to_one MONDO:0010281 Danon disease UMLS UMLS:C0878677 one_to_one +MONDO:0010281 Danon disease http http://identifiers.org/hgnc/6501 disease_has_basis_in_dysfunction_of MONDO:0010282 mycobacterium tuberculosis, susceptibility to, X-linked MONDO MONDO:0000070 subclass MONDO:0010282 mycobacterium tuberculosis, susceptibility to, X-linked OMIM OMIM:300259 one_to_one MONDO:0010283 syndromic X-linked intellectual disability Lubs type DOID DOID:0060799 one_to_one @@ -60417,6 +61954,7 @@ MONDO:0010283 syndromic X-linked intellectual disability Lubs type OMIM OMIM:300 MONDO:0010283 syndromic X-linked intellectual disability Lubs type Orphanet Orphanet:1762 one_to_one MONDO:0010283 syndromic X-linked intellectual disability Lubs type SCTID SCTID:702816000 one_to_one MONDO:0010283 syndromic X-linked intellectual disability Lubs type UMLS UMLS:C1846058 one_to_one +MONDO:0010283 syndromic X-linked intellectual disability Lubs type http http://identifiers.org/hgnc/6990 disease_has_basis_in_dysfunction_of MONDO:0010284 Armfield syndrome DOID DOID:0050764 one_to_one MONDO:0010284 Armfield syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010284 Armfield syndrome MESH MESH:C564551 one_to_one @@ -60441,6 +61979,7 @@ MONDO:0010286 syndromic X-linked intellectual disability Siderius type MONDO MON MONDO:0010286 syndromic X-linked intellectual disability Siderius type OMIM OMIM:300263 one_to_one MONDO:0010286 syndromic X-linked intellectual disability Siderius type Orphanet Orphanet:85287 one_to_one MONDO:0010286 syndromic X-linked intellectual disability Siderius type UMLS UMLS:C1846055 one_to_one +MONDO:0010286 syndromic X-linked intellectual disability Siderius type http http://identifiers.org/hgnc/20672 disease_has_basis_in_dysfunction_of MONDO:0010287 hereditary spastic paraplegia 16 DOID DOID:0110769 one_to_one MONDO:0010287 hereditary spastic paraplegia 16 GARD GARD:0009585 one_to_one MONDO:0010287 hereditary spastic paraplegia 16 ICD10 ICD10:G11.4 inexact @@ -60467,6 +62006,7 @@ MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome MESH MESH:C564544 one_ MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome MONDO MONDO:0003847 subclass MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome OMIM OMIM:300280 one_to_one MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome UMLS UMLS:C1846010 one_to_one +MONDO:0010292 Uruguay Faciocardiomusculoskeletal syndrome http http://identifiers.org/hgnc/3702 disease_has_basis_in_dysfunction_of MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency GARD GARD:0009936 one_to_one MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency ICD10 ICD10:D82.8 inexact MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency MONDO MONDO:0016535,MONDO:0018035 subclass @@ -60475,6 +62015,7 @@ MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency OMIM OMIM: MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency Orphanet Orphanet:98813 one_to_one MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency SCTID SCTID:703525006 one_to_one MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency UMLS UMLS:C1846006 one_to_one +MONDO:0010293 hypohidrotic ectodermal dysplasia with immunodeficiency http http://identifiers.org/hgnc/5961 disease_has_basis_in_dysfunction_of MONDO:0010294 X-linked severe congenital neutropenia GARD GARD:0003981 one_to_one MONDO:0010294 X-linked severe congenital neutropenia HP HP:0001417 has_modifier MONDO:0010294 X-linked severe congenital neutropenia ICD10 ICD10:D70 inexact @@ -60484,12 +62025,14 @@ MONDO:0010294 X-linked severe congenital neutropenia OMIM OMIM:300299 one_to_one MONDO:0010294 X-linked severe congenital neutropenia Orphanet Orphanet:86788 one_to_one MONDO:0010294 X-linked severe congenital neutropenia SCTID SCTID:718882006 one_to_one MONDO:0010294 X-linked severe congenital neutropenia UMLS UMLS:C1845987 one_to_one +MONDO:0010294 X-linked severe congenital neutropenia http http://identifiers.org/hgnc/12731 disease_has_basis_in_dysfunction_of MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome ICD10 ICD10:Q78.2 inexact MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MESH MESH:C564538 one_to_one MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome MONDO MONDO:0015948,MONDO:0015958,MONDO:0017198,MONDO:0018035,MONDO:0018722,MONDO:0019287,MONDO:0019313,MONDO:0019520,MONDO:0042973 subclass MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome OMIM OMIM:300301 one_to_one MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Orphanet Orphanet:69088 one_to_one MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome SCTID SCTID:720986005 one_to_one +MONDO:0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome http http://identifiers.org/hgnc/5961 disease_has_basis_in_dysfunction_of MONDO:0010296 AGMX2 GARD GARD:0010007 one_to_one MONDO:0010296 AGMX2 MESH MESH:C538057 one_to_one MONDO:0010296 AGMX2 MONDO MONDO:0010421 subclass @@ -60499,6 +62042,7 @@ MONDO:0010297 FG syndrome 2 GARD GARD:0009923 one_to_one MONDO:0010297 FG syndrome 2 MONDO MONDO:0002010 subclass MONDO:0010297 FG syndrome 2 OMIM OMIM:300321 one_to_one MONDO:0010297 FG syndrome 2 UMLS UMLS:C1845902 one_to_one +MONDO:0010297 FG syndrome 2 http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010298 Lesch-Nyhan syndrome DOID DOID:1919 one_to_one MONDO:0010298 Lesch-Nyhan syndrome GARD GARD:0007226 one_to_one MONDO:0010298 Lesch-Nyhan syndrome HP HP:0100716 disease_has_feature @@ -60512,6 +62056,7 @@ MONDO:0010298 Lesch-Nyhan syndrome OMIM OMIM:300322 one_to_one MONDO:0010298 Lesch-Nyhan syndrome Orphanet Orphanet:510 one_to_one MONDO:0010298 Lesch-Nyhan syndrome SCTID SCTID:10406007 one_to_one MONDO:0010298 Lesch-Nyhan syndrome UMLS UMLS:C0023374,UMLS:CN205196 inexact +MONDO:0010298 Lesch-Nyhan syndrome http http://identifiers.org/hgnc/5157 disease_has_basis_in_dysfunction_of MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency ICD10 ICD10:E79.8 inexact MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency ICD9 ICD9:277.2 inexact MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency MESH MESH:C562583 one_to_one @@ -60520,6 +62065,7 @@ MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency Orphanet Orphanet:79233 one_to_one MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency SCTID SCTID:238007004 one_to_one MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency UMLS UMLS:C0268117 one_to_one +MONDO:0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency http http://identifiers.org/hgnc/5157 disease_has_basis_in_dysfunction_of MONDO:0010300 MRX53 MESH MESH:C564533 one_to_one MONDO:0010300 MRX53 MONDO MONDO:0019181 subclass MONDO:0010300 MRX53 OMIM OMIM:300324 one_to_one @@ -60544,11 +62090,12 @@ MONDO:0010305 creatine transporter deficiency GARD GARD:0001608 one_to_one MONDO:0010305 creatine transporter deficiency ICD10 ICD10:E72.8 inexact MONDO:0010305 creatine transporter deficiency ICD9 ICD9:758.81 inexact MONDO:0010305 creatine transporter deficiency MESH MESH:C535598 one_to_one -MONDO:0010305 creatine transporter deficiency MONDO MONDO:0000456,MONDO:0015159,MONDO:0015327,MONDO:0015920,MONDO:0043005 subclass +MONDO:0010305 creatine transporter deficiency MONDO MONDO:0000456,MONDO:0015159,MONDO:0015327,MONDO:0015653,MONDO:0015920,MONDO:0043005 subclass MONDO:0010305 creatine transporter deficiency NCIT NCIT:C125665 one_to_one MONDO:0010305 creatine transporter deficiency OMIM OMIM:300352 one_to_one MONDO:0010305 creatine transporter deficiency Orphanet Orphanet:52503 one_to_one MONDO:0010305 creatine transporter deficiency SCTID SCTID:698290008 one_to_one +MONDO:0010305 creatine transporter deficiency http http://identifiers.org/hgnc/11055 disease_has_basis_in_dysfunction_of MONDO:0010306 X-linked intellectual disability, Cabezas type DOID DOID:0060822 one_to_one MONDO:0010306 X-linked intellectual disability, Cabezas type GARD GARD:0013244 one_to_one MONDO:0010306 X-linked intellectual disability, Cabezas type ICD10 ICD10:Q87.8 inexact @@ -60557,6 +62104,7 @@ MONDO:0010306 X-linked intellectual disability, Cabezas type OMIM OMIM:300354 on MONDO:0010306 X-linked intellectual disability, Cabezas type Orphanet Orphanet:85293 one_to_one MONDO:0010306 X-linked intellectual disability, Cabezas type SCTID SCTID:719811001 one_to_one MONDO:0010306 X-linked intellectual disability, Cabezas type UMLS UMLS:C1845845,UMLS:C1845861 inexact +MONDO:0010306 X-linked intellectual disability, Cabezas type http http://identifiers.org/hgnc/2555 disease_has_basis_in_dysfunction_of MONDO:0010307 MRX73 MESH MESH:C564528 one_to_one MONDO:0010307 MRX73 MONDO MONDO:0019181 subclass MONDO:0010307 MRX73 OMIM OMIM:300355 one_to_one @@ -60565,6 +62113,7 @@ MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anem MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia NCIT NCIT:C136653 one_to_one MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia OMIM OMIM:300367 one_to_one MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia UMLS UMLS:C3550789 one_to_one +MONDO:0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia http http://identifiers.org/hgnc/4170 disease_has_basis_in_dysfunction_of MONDO:0010309 MRX42 MESH MESH:C564524 one_to_one MONDO:0010309 MRX42 MONDO MONDO:0019181 subclass MONDO:0010309 MRX42 OMIM OMIM:300372 one_to_one @@ -60580,10 +62129,11 @@ MONDO:0010310 osteopathia striata with cranial sclerosis OMIM OMIM:300373 one_to MONDO:0010310 osteopathia striata with cranial sclerosis Orphanet Orphanet:2780 one_to_one MONDO:0010310 osteopathia striata with cranial sclerosis SCTID SCTID:254129003 one_to_one MONDO:0010310 osteopathia striata with cranial sclerosis UMLS UMLS:C0432268 one_to_one +MONDO:0010310 osteopathia striata with cranial sclerosis http http://identifiers.org/hgnc/26837 disease_has_basis_in_dysfunction_of MONDO:0010311 Becker muscular dystrophy DOID DOID:9883 one_to_one MONDO:0010311 Becker muscular dystrophy GARD GARD:0005900 one_to_one MONDO:0010311 Becker muscular dystrophy ICD10 ICD10:G71.0 inexact -MONDO:0010311 Becker muscular dystrophy MONDO MONDO:0016147,MONDO:0016899 subclass +MONDO:0010311 Becker muscular dystrophy MONDO MONDO:0010542,MONDO:0016899 subclass MONDO:0010311 Becker muscular dystrophy MedDRA MedDRA:10059117 one_to_one MONDO:0010311 Becker muscular dystrophy NCIT NCIT:C84587 one_to_one MONDO:0010311 Becker muscular dystrophy OMIM OMIM:300376 one_to_one @@ -60598,6 +62148,7 @@ MONDO:0010313 intellectual disability, X-linked 63 MESH MESH:C564522 one_to_one MONDO:0010313 intellectual disability, X-linked 63 MONDO MONDO:0019181 subclass MONDO:0010313 intellectual disability, X-linked 63 OMIM OMIM:300387 one_to_one MONDO:0010313 intellectual disability, X-linked 63 UMLS UMLS:C1845672 one_to_one +MONDO:0010313 intellectual disability, X-linked 63 http http://identifiers.org/hgnc/3571 disease_has_basis_in_dysfunction_of MONDO:0010314 BPPX MONDO MONDO:0020340 subclass MONDO:0010314 BPPX OMIM OMIM:300388 one_to_one MONDO:0010314 BPPX SCTID SCTID:438583008 one_to_one @@ -60611,6 +62162,7 @@ MONDO:0010315 gamma chain deficiency NCIT NCIT:C4682 one_to_one MONDO:0010315 gamma chain deficiency OMIM OMIM:300400 one_to_one MONDO:0010315 gamma chain deficiency Orphanet Orphanet:276 one_to_one MONDO:0010315 gamma chain deficiency SCTID SCTID:203592006 one_to_one +MONDO:0010315 gamma chain deficiency http http://identifiers.org/hgnc/6010 disease_has_basis_in_dysfunction_of MONDO:0010316 FG syndrome 3 GARD GARD:0009924 one_to_one MONDO:0010316 FG syndrome 3 MONDO MONDO:0002010 subclass MONDO:0010316 FG syndrome 3 OMIM OMIM:300406 one_to_one @@ -60620,26 +62172,30 @@ MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-r MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO MONDO:0019181 subclass MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related OMIM OMIM:300419 one_to_one MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related UMLS UMLS:C0796244 one_to_one +MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related http http://identifiers.org/hgnc/18060 disease_has_basis_in_dysfunction_of MONDO:0010318 FG syndrome 4 GARD GARD:0009925 one_to_one MONDO:0010318 FG syndrome 4 MONDO MONDO:0002010 subclass MONDO:0010318 FG syndrome 4 OMIM OMIM:300422 one_to_one MONDO:0010318 FG syndrome 4 Orphanet Orphanet:165976 one_to_one MONDO:0010318 FG syndrome 4 UMLS UMLS:CN033933 one_to_one +MONDO:0010318 FG syndrome 4 http http://identifiers.org/hgnc/1497 disease_has_basis_in_dysfunction_of MONDO:0010319 syndromic X-linked intellectual disability Hedera type DOID DOID:0060806 one_to_one MONDO:0010319 syndromic X-linked intellectual disability Hedera type MESH MESH:C564516 one_to_one MONDO:0010319 syndromic X-linked intellectual disability Hedera type MONDO MONDO:0016160 subclass MONDO:0010319 syndromic X-linked intellectual disability Hedera type OMIM OMIM:300423 one_to_one MONDO:0010319 syndromic X-linked intellectual disability Hedera type Orphanet Orphanet:93952 one_to_one MONDO:0010319 syndromic X-linked intellectual disability Hedera type UMLS UMLS:C1845543 one_to_one +MONDO:0010319 syndromic X-linked intellectual disability Hedera type http http://identifiers.org/hgnc/18305 disease_has_basis_in_dysfunction_of MONDO:0010320 retinitis pigmentosa 23 DOID DOID:0110412 one_to_one MONDO:0010320 retinitis pigmentosa 23 GARD GARD:0010391 one_to_one MONDO:0010320 retinitis pigmentosa 23 ICD10 ICD10:H35.5 inexact MONDO:0010320 retinitis pigmentosa 23 MONDO MONDO:0019200 subclass -MONDO:0010320 retinitis pigmentosa 23 NCBIGene NCBIGene:8481 disease_has_basis_in_dysfunction_of MONDO:0010320 retinitis pigmentosa 23 OMIM OMIM:300424 one_to_one MONDO:0010320 retinitis pigmentosa 23 UMLS UMLS:C1419610 one_to_one +MONDO:0010320 retinitis pigmentosa 23 http http://identifiers.org/hgnc/2567 disease_has_basis_in_dysfunction_of MONDO:0010321 autism, susceptibility to, X-linked 1 MONDO MONDO:0005260 subclass MONDO:0010321 autism, susceptibility to, X-linked 1 OMIM OMIM:300425 one_to_one +MONDO:0010321 autism, susceptibility to, X-linked 1 http http://identifiers.org/hgnc/14289 disease_has_basis_in_dysfunction_of MONDO:0010322 MRX2 MESH MESH:C563135 one_to_one MONDO:0010322 MRX2 MONDO MONDO:0019181 subclass MONDO:0010322 MRX2 OMIM OMIM:300428 one_to_one @@ -60662,16 +62218,19 @@ MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type OMIM OMIM MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type Orphanet Orphanet:85288 one_to_one MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type SCTID SCTID:718910006 one_to_one MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type UMLS UMLS:C1845530 one_to_one +MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type http http://identifiers.org/hgnc/29215 disease_has_basis_in_dysfunction_of MONDO:0010326 intellectual disability, X-linked 46 MESH MESH:C564513 one_to_one MONDO:0010326 intellectual disability, X-linked 46 MONDO MONDO:0019181 subclass MONDO:0010326 intellectual disability, X-linked 46 OMIM OMIM:300436 one_to_one MONDO:0010326 intellectual disability, X-linked 46 UMLS UMLS:C1845526 one_to_one +MONDO:0010326 intellectual disability, X-linked 46 http http://identifiers.org/hgnc/685 disease_has_basis_in_dysfunction_of MONDO:0010327 HSD10 disease GARD GARD:0010716 one_to_one MONDO:0010327 HSD10 disease ICD10 ICD10:E72.8 inexact MONDO:0010327 HSD10 disease MESH MESH:C536080 one_to_one MONDO:0010327 HSD10 disease MONDO MONDO:0015920,MONDO:0019213 subclass MONDO:0010327 HSD10 disease OMIM OMIM:300438 one_to_one MONDO:0010327 HSD10 disease Orphanet Orphanet:391417 one_to_one +MONDO:0010327 HSD10 disease http http://identifiers.org/hgnc/4800 disease_has_basis_in_dysfunction_of MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome ICD10 ICD10:D46.7,ICD10:D56.0 inexact MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome ICD9 ICD9:282.49 inexact MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome MESH MESH:C563023 one_to_one @@ -60681,12 +62240,13 @@ MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome OMIM OMIM:300448 one_to MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome Orphanet Orphanet:231401 one_to_one MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome SCTID SCTID:307343001 one_to_one MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome UMLS UMLS:C0585216 one_to_one +MONDO:0010328 alpha-thalassemia-myelodysplastic syndrome http http://identifiers.org/hgnc/886 disease_has_basis_in_dysfunction_of MONDO:0010329 MRX77 MESH MESH:C564511 one_to_one MONDO:0010329 MRX77 MONDO MONDO:0019181 subclass MONDO:0010329 MRX77 OMIM OMIM:300454 one_to_one MONDO:0010329 MRX77 UMLS UMLS:C1845499 one_to_one MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome MESH MESH:C567595 one_to_one -MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO MONDO:0015118,MONDO:0015510,MONDO:0020240 subclass +MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome MONDO MONDO:0010227,MONDO:0015118,MONDO:0015510,MONDO:0020240 subclass MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome OMIM OMIM:300455 one_to_one MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome Orphanet Orphanet:247522 one_to_one MONDO:0010330 primary ciliary dyskinesia-retinitis pigmentosa syndrome UMLS UMLS:C2749137 one_to_one @@ -60706,17 +62266,19 @@ MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-microgna MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome OMIM OMIM:300472 one_to_one MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Orphanet Orphanet:52055 one_to_one MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome SCTID SCTID:722282008 one_to_one +MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome http http://identifiers.org/hgnc/5461 disease_has_basis_in_dysfunction_of MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MESH MESH:C564508 one_to_one -MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO MONDO:0000761,MONDO:0015983,MONDO:0018265,MONDO:0019589 subclass +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO MONDO:0000761,MONDO:0015983,MONDO:0018265,MONDO:0019589,MONDO:0044807 subclass MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome OMIM OMIM:300475 one_to_one MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Orphanet Orphanet:369939 one_to_one +MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome http http://identifiers.org/hgnc/16695 disease_has_basis_in_dysfunction_of MONDO:0010335 X-linked cone-rod dystrophy 3 DOID DOID:0111007 one_to_one MONDO:0010335 X-linked cone-rod dystrophy 3 GARD GARD:0010654 one_to_one MONDO:0010335 X-linked cone-rod dystrophy 3 MESH MESH:C564507 one_to_one MONDO:0010335 X-linked cone-rod dystrophy 3 MONDO MONDO:0021155 subclass -MONDO:0010335 X-linked cone-rod dystrophy 3 NCBIGene NCBIGene:778 disease_has_basis_in_dysfunction_of MONDO:0010335 X-linked cone-rod dystrophy 3 OMIM OMIM:300476 one_to_one +MONDO:0010335 X-linked cone-rod dystrophy 3 http http://identifiers.org/hgnc/1393 disease_has_basis_in_dysfunction_of MONDO:0010336 orofaciodigital syndrome VIII DOID DOID:0060378 one_to_one MONDO:0010336 orofaciodigital syndrome VIII GARD GARD:0004060 one_to_one MONDO:0010336 orofaciodigital syndrome VIII ICD10 ICD10:Q87.0 inexact @@ -60732,36 +62294,45 @@ MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MO MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome OMIM OMIM:300486 one_to_one MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome Orphanet Orphanet:137831 one_to_one MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome SCTID SCTID:719136005 one_to_one +MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome http http://identifiers.org/hgnc/8148 disease_has_basis_in_dysfunction_of MONDO:0010338 X-linked distal spinal muscular atrophy type 3 ICD10 ICD10:G12.2 inexact MONDO:0010338 X-linked distal spinal muscular atrophy type 3 MESH MESH:C564506 one_to_one MONDO:0010338 X-linked distal spinal muscular atrophy type 3 MONDO MONDO:0001516,MONDO:0018451,MONDO:0024237 subclass MONDO:0010338 X-linked distal spinal muscular atrophy type 3 OMIM OMIM:300489 one_to_one MONDO:0010338 X-linked distal spinal muscular atrophy type 3 Orphanet Orphanet:139557 one_to_one MONDO:0010338 X-linked distal spinal muscular atrophy type 3 UMLS UMLS:C1845359 one_to_one +MONDO:0010338 X-linked distal spinal muscular atrophy type 3 http http://identifiers.org/hgnc/869 disease_has_basis_in_dysfunction_of MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome MESH MESH:C564505 one_to_one MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome MONDO MONDO:0015653,MONDO:0020119 subclass MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome OMIM OMIM:300491 one_to_one 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 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 MONDO:0010341 autism, susceptibility to, X-linked 2 MESH MESH:D038901 one_to_one MONDO:0010341 autism, susceptibility to, X-linked 2 MONDO MONDO:0005260 subclass MONDO:0010341 autism, susceptibility to, X-linked 2 OMIM OMIM:300495 one_to_one +MONDO:0010341 autism, susceptibility to, X-linked 2 http http://identifiers.org/hgnc/14287 disease_has_basis_in_dysfunction_of 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 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 MONDO:0010344 intellectual disability, X-linked 45 MONDO MONDO:0019181 subclass MONDO:0010344 intellectual disability, X-linked 45 OMIM OMIM:300498 one_to_one MONDO:0010344 intellectual disability, X-linked 45 UMLS UMLS:C1845333 one_to_one +MONDO:0010344 intellectual disability, X-linked 45 http http://identifiers.org/hgnc/13156 disease_has_basis_in_dysfunction_of MONDO:0010346 MRX52 MESH MESH:C564502 one_to_one MONDO:0010346 MRX52 MONDO MONDO:0019181 subclass MONDO:0010346 MRX52 OMIM OMIM:300504 one_to_one MONDO:0010346 MRX52 UMLS UMLS:C1845298 one_to_one +MONDO:0010346 MRX52 http http://identifiers.org/hgnc/886 disease_has_basis_in_dysfunction_of 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 @@ -60769,19 +62340,22 @@ MONDO:0010347 MRX84 UMLS UMLS:C1845297 one_to_one MONDO:0010348 DYX9 MONDO 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:0009299 subclass +MONDO:0010349 ovarian dysgenesis 2 MONDO MONDO:0005387,MONDO:0009299 subclass MONDO:0010349 ovarian dysgenesis 2 OMIM OMIM:300510 one_to_one MONDO:0010349 ovarian dysgenesis 2 UMLS UMLS:C1845294 one_to_one +MONDO:0010349 ovarian dysgenesis 2 http http://identifiers.org/hgnc/1068 disease_has_basis_in_dysfunction_of MONDO:0010350 premature ovarian failure 2A MESH MESH:C564498 one_to_one -MONDO:0010350 premature ovarian failure 2A MONDO MONDO:0019852 subclass +MONDO:0010350 premature ovarian failure 2A MONDO MONDO:0005387,MONDO:0019852 subclass MONDO:0010350 premature ovarian failure 2A OMIM OMIM:300511 one_to_one MONDO:0010350 premature ovarian failure 2A UMLS UMLS:C1845293 one_to_one +MONDO:0010350 premature ovarian failure 2A http http://identifiers.org/hgnc/2877 disease_has_basis_in_dysfunction_of MONDO:0010351 Fanconi anemia complementation group b DOID DOID:0111098 one_to_one MONDO:0010351 Fanconi anemia complementation group b MESH MESH:C564497 one_to_one MONDO:0010351 Fanconi anemia complementation group b MONDO MONDO:0019391 subclass MONDO:0010351 Fanconi anemia complementation group b NCIT NCIT:C125703 one_to_one MONDO:0010351 Fanconi anemia complementation group b OMIM OMIM:300514 one_to_one MONDO:0010351 Fanconi anemia complementation group b UMLS UMLS:C1845292 one_to_one +MONDO:0010351 Fanconi anemia complementation group b http http://identifiers.org/hgnc/3583 disease_has_basis_in_dysfunction_of MONDO:0010352 MRX82 MESH MESH:C564496 one_to_one MONDO:0010352 MRX82 MONDO MONDO:0019181 subclass MONDO:0010352 MRX82 OMIM OMIM:300518 one_to_one @@ -60803,6 +62377,7 @@ MONDO:0010354 Allan-Herndon-Dudley syndrome OMIM OMIM:300523 one_to_one MONDO:0010354 Allan-Herndon-Dudley syndrome Orphanet Orphanet:59 one_to_one MONDO:0010354 Allan-Herndon-Dudley syndrome SCTID SCTID:702327009 one_to_one MONDO:0010354 Allan-Herndon-Dudley syndrome UMLS UMLS:C0795889 one_to_one +MONDO:0010354 Allan-Herndon-Dudley syndrome http http://identifiers.org/hgnc/10923 disease_has_basis_in_dysfunction_of MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type DOID DOID:0060809 one_to_one MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type ICD10 ICD10:Q87.8 inexact MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MESH MESH:C564494 one_to_one @@ -60811,23 +62386,28 @@ MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type OMIM MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type Orphanet Orphanet:85279 one_to_one MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type SCTID SCTID:719161008 one_to_one MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type UMLS UMLS:C1845243,UMLS:C4304915 inexact +MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type http http://identifiers.org/hgnc/11114 disease_has_basis_in_dysfunction_of MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis ICD10 ICD10:E22.2 inexact MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis MESH MESH:C564491 one_to_one MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis MONDO MONDO:0015962,MONDO:0019744 subclass MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis OMIM OMIM:300539 one_to_one MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis Orphanet Orphanet:93606 one_to_one MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis UMLS UMLS:C1845202 one_to_one +MONDO:0010356 nephrogenic syndrome of inappropriate antidiuresis http http://identifiers.org/hgnc/897 disease_has_basis_in_dysfunction_of MONDO:0010357 MRX78 MESH MESH:C564489 one_to_one MONDO:0010357 MRX78 MONDO MONDO:0019181 subclass MONDO:0010357 MRX78 OMIM OMIM:300551 one_to_one +MONDO:0010357 MRX78 http http://identifiers.org/hgnc/29059 disease_has_basis_in_dysfunction_of MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO MONDO:0010619 subclass MONDO:0010358 hypophosphatemic rickets, X-linked recessive OMIM OMIM:300554 one_to_one +MONDO:0010358 hypophosphatemic rickets, X-linked recessive http http://identifiers.org/hgnc/2023 disease_has_basis_in_dysfunction_of MONDO:0010359 Dent disease type 2 ICD10 ICD10:N25.8 inexact MONDO:0010359 Dent disease type 2 MONDO MONDO:0015612 subclass MONDO:0010359 Dent disease type 2 OMIM OMIM:300555 one_to_one MONDO:0010359 Dent disease type 2 Orphanet Orphanet:93623 one_to_one MONDO:0010359 Dent disease type 2 SCTID SCTID:717790004 one_to_one MONDO:0010359 Dent disease type 2 UMLS UMLS:C1845167,UMLS:C4305529 inexact +MONDO:0010359 Dent disease type 2 http http://identifiers.org/hgnc/8108 disease_has_basis_in_dysfunction_of MONDO:0010360 PARK12 MESH MESH:C564486 one_to_one MONDO:0010360 PARK12 MONDO MONDO:0017279 subclass MONDO:0010360 PARK12 OMIM OMIM:300557 one_to_one @@ -60835,6 +62415,7 @@ MONDO:0010360 PARK12 UMLS UMLS:C1845165 one_to_one MONDO:0010361 intellectual disability, X-linked 30 MONDO MONDO:0019181 subclass MONDO:0010361 intellectual disability, X-linked 30 OMIM OMIM:300558 one_to_one MONDO:0010361 intellectual disability, X-linked 30 UMLS UMLS:C0796237 one_to_one +MONDO:0010361 intellectual disability, X-linked 30 http http://identifiers.org/hgnc/8592 disease_has_basis_in_dysfunction_of 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 @@ -60842,10 +62423,12 @@ 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 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 MONDO:0010363 intellectual disability, X-linked 91 MESH MESH:C564482 one_to_one MONDO:0010363 intellectual disability, X-linked 91 MONDO MONDO:0019181 subclass MONDO:0010363 intellectual disability, X-linked 91 OMIM OMIM:300577 one_to_one MONDO:0010363 intellectual disability, X-linked 91 UMLS UMLS:C1845142 one_to_one +MONDO:0010363 intellectual disability, X-linked 91 http http://identifiers.org/hgnc/20342 disease_has_basis_in_dysfunction_of MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome GARD GARD:0008360 one_to_one MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome ICD10 ICD10:H35.5 inexact MONDO:0010364 X-linked intellectual disability-retinitis pigmentosa syndrome MONDO MONDO:0000761,MONDO:0017004,MONDO:0020119 subclass @@ -60872,6 +62455,7 @@ MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia MESH MESH MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia MONDO MONDO:0003778,MONDO:0003847 subclass MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia OMIM OMIM:300584 one_to_one MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia UMLS UMLS:C1845117 one_to_one +MONDO:0010368 immunodeficiency without anhidrotic ectodermal dysplasia http http://identifiers.org/hgnc/5961 disease_has_basis_in_dysfunction_of MONDO:0010369 NYS5 MONDO MONDO:0005712 subclass MONDO:0010369 NYS5 OMIM OMIM:300589 one_to_one MONDO:0010369 NYS5 UMLS UMLS:C1845116 one_to_one @@ -60879,6 +62463,7 @@ MONDO:0010370 Cornelia de Lange syndrome 2 MONDO MONDO:0016033 subclass MONDO:0010370 Cornelia de Lange syndrome 2 NCIT NCIT:C75485 one_to_one MONDO:0010370 Cornelia de Lange syndrome 2 OMIM OMIM:300590 one_to_one MONDO:0010370 Cornelia de Lange syndrome 2 UMLS UMLS:C1802395 one_to_one +MONDO:0010370 Cornelia de Lange syndrome 2 http http://identifiers.org/hgnc/11111 disease_has_basis_in_dysfunction_of MONDO:0010371 Aland island eye disease DOID DOID:0050630 one_to_one MONDO:0010371 Aland island eye disease GARD GARD:0010574 one_to_one MONDO:0010371 Aland island eye disease ICD10 ICD10:H35.5 inexact @@ -60888,15 +62473,17 @@ MONDO:0010371 Aland island eye disease OMIM OMIM:300600 one_to_one MONDO:0010371 Aland island eye disease Orphanet Orphanet:178333 one_to_one MONDO:0010371 Aland island eye disease SCTID SCTID:266455006 one_to_one MONDO:0010371 Aland island eye disease UMLS UMLS:C0268505 one_to_one +MONDO:0010371 Aland island eye disease http http://identifiers.org/hgnc/1393 disease_has_basis_in_dysfunction_of MONDO:0010372 Clark-Baraitser syndrome GARD GARD:0009994 one_to_one MONDO:0010372 Clark-Baraitser syndrome MESH MESH:C536208 one_to_one MONDO:0010372 Clark-Baraitser syndrome MONDO MONDO:0003847 subclass MONDO:0010372 Clark-Baraitser syndrome OMIM OMIM:300602 one_to_one MONDO:0010372 Clark-Baraitser syndrome UMLS UMLS:C2931130 one_to_one MONDO:0010373 premature ovarian failure 2B MESH MESH:C564476 one_to_one -MONDO:0010373 premature ovarian failure 2B MONDO MONDO:0019852 subclass +MONDO:0010373 premature ovarian failure 2B MONDO MONDO:0005387,MONDO:0019852 subclass MONDO:0010373 premature ovarian failure 2B OMIM OMIM:300604 one_to_one MONDO:0010373 premature ovarian failure 2B UMLS UMLS:C1845105 one_to_one +MONDO:0010373 premature ovarian failure 2B http http://identifiers.org/hgnc/13711 disease_has_basis_in_dysfunction_of MONDO:0010374 retinitis pigmentosa 34 DOID DOID:0110417 one_to_one MONDO:0010374 retinitis pigmentosa 34 GARD GARD:0010390 one_to_one MONDO:0010374 retinitis pigmentosa 34 ICD10 ICD10:H35.5 inexact @@ -60911,6 +62498,7 @@ MONDO:0010375 hyperekplexia-epilepsy syndrome MONDO MONDO:0015920,MONDO:0016021, MONDO:0010375 hyperekplexia-epilepsy syndrome OMIM OMIM:300607 one_to_one MONDO:0010375 hyperekplexia-epilepsy syndrome Orphanet Orphanet:163985 one_to_one MONDO:0010375 hyperekplexia-epilepsy syndrome UMLS UMLS:C1845102 one_to_one +MONDO:0010375 hyperekplexia-epilepsy syndrome http http://identifiers.org/hgnc/14561 disease_has_basis_in_dysfunction_of MONDO:0010376 Brooks-Wisniewski-brown syndrome DOID DOID:0060829 one_to_one MONDO:0010376 Brooks-Wisniewski-brown syndrome GARD GARD:0005610 one_to_one MONDO:0010376 Brooks-Wisniewski-brown syndrome ICD10 ICD10:Q87.8 inexact @@ -60931,6 +62519,7 @@ MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with deafness MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with deafness Orphanet Orphanet:139583 one_to_one MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with deafness SCTID SCTID:719838008 one_to_one MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with deafness UMLS UMLS:C1845095,UMLS:C4304400 inexact +MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with deafness http http://identifiers.org/hgnc/8768 disease_has_basis_in_dysfunction_of MONDO:0010379 Brunner syndrome DOID DOID:0060693 one_to_one MONDO:0010379 Brunner syndrome GARD GARD:0003531 one_to_one MONDO:0010379 Brunner syndrome ICD10 ICD10:E70.8 inexact @@ -60940,6 +62529,7 @@ MONDO:0010379 Brunner syndrome OMIM OMIM:300615 one_to_one MONDO:0010379 Brunner syndrome Orphanet Orphanet:3057 one_to_one MONDO:0010379 Brunner syndrome SCTID SCTID:718210003 one_to_one MONDO:0010379 Brunner syndrome UMLS UMLS:C0796275 one_to_one +MONDO:0010379 Brunner syndrome http http://identifiers.org/hgnc/6833 disease_has_basis_in_dysfunction_of MONDO:0010380 cataract, ataxia, short stature, and mental retardation GARD GARD:0010222 one_to_one MONDO:0010380 cataract, ataxia, short stature, and mental retardation MESH MESH:C535345 one_to_one MONDO:0010380 cataract, ataxia, short stature, and mental retardation MONDO MONDO:0003847 subclass @@ -60949,6 +62539,7 @@ MONDO:0010381 Tn Polyagglutination syndrome MESH MESH:C562719 one_to_one MONDO:0010381 Tn Polyagglutination syndrome MONDO MONDO:0003847 subclass MONDO:0010381 Tn Polyagglutination syndrome OMIM OMIM:300622 one_to_one MONDO:0010381 Tn Polyagglutination syndrome UMLS UMLS:C0272137 one_to_one +MONDO:0010381 Tn Polyagglutination syndrome http http://identifiers.org/hgnc/24338 disease_has_basis_in_dysfunction_of MONDO:0010382 fragile X-associated tremor/ataxia syndrome DOID DOID:0050879 one_to_one MONDO:0010382 fragile X-associated tremor/ataxia syndrome ICD10 ICD10:G11.2 inexact MONDO:0010382 fragile X-associated tremor/ataxia syndrome MESH MESH:C564105 one_to_one @@ -60958,23 +62549,26 @@ MONDO:0010382 fragile X-associated tremor/ataxia syndrome OMIM OMIM:300623 one_t MONDO:0010382 fragile X-associated tremor/ataxia syndrome Orphanet Orphanet:93256 one_to_one MONDO:0010382 fragile X-associated tremor/ataxia syndrome SCTID SCTID:448045004 one_to_one MONDO:0010382 fragile X-associated tremor/ataxia syndrome UMLS UMLS:C1839780 one_to_one +MONDO:0010382 fragile X-associated tremor/ataxia syndrome http http://identifiers.org/hgnc/3775 disease_has_basis_in_dysfunction_of MONDO:0010383 fragile X syndrome COHD COHD:436803 one_to_one MONDO:0010383 fragile X syndrome DOID DOID:14261 one_to_one MONDO:0010383 fragile X syndrome GARD GARD:0006464 one_to_one MONDO:0010383 fragile X syndrome ICD10 ICD10:Q99.2 inexact MONDO:0010383 fragile X syndrome ICD9 ICD9:759.83 one_to_one MONDO:0010383 fragile X syndrome MESH MESH:D005600 one_to_one -MONDO:0010383 fragile X syndrome MONDO MONDO:0015159,MONDO:0015652,MONDO:0015653,MONDO:0015878,MONDO:0016565,MONDO:0019052,MONDO:0020119,MONDO:0020253,MONDO:0043005 subclass +MONDO:0010383 fragile X syndrome MONDO MONDO:0015159,MONDO:0015652,MONDO:0015653,MONDO:0015656,MONDO:0015878,MONDO:0016565,MONDO:0019052,MONDO:0020119,MONDO:0020253,MONDO:0043005 subclass MONDO:0010383 fragile X syndrome MedDRA MedDRA:10017324 one_to_one MONDO:0010383 fragile X syndrome NCIT NCIT:C84717 one_to_one MONDO:0010383 fragile X syndrome OMIM OMIM:300624 one_to_one MONDO:0010383 fragile X syndrome Orphanet Orphanet:908 one_to_one MONDO:0010383 fragile X syndrome SCTID SCTID:613003 one_to_one MONDO:0010383 fragile X syndrome UMLS UMLS:C0016667 one_to_one +MONDO:0010383 fragile X syndrome http http://identifiers.org/hgnc/3775 disease_has_basis_in_dysfunction_of MONDO:0010384 hypospadias 1, X-linked MESH MESH:C567482 one_to_one MONDO:0010384 hypospadias 1, X-linked MONDO MONDO:0005345 subclass MONDO:0010384 hypospadias 1, X-linked OMIM OMIM:300633 one_to_one MONDO:0010384 hypospadias 1, X-linked UMLS UMLS:C2678098 one_to_one +MONDO:0010384 hypospadias 1, X-linked http http://identifiers.org/hgnc/644 disease_has_basis_in_dysfunction_of MONDO:0010385 X-linked lymphoproliferative syndrome 2 DOID DOID:0060706 one_to_one MONDO:0010385 X-linked lymphoproliferative syndrome 2 GARD GARD:0010916 one_to_one MONDO:0010385 X-linked lymphoproliferative syndrome 2 ICD10 ICD10:D82.3 inexact @@ -60983,6 +62577,7 @@ MONDO:0010385 X-linked lymphoproliferative syndrome 2 MONDO MONDO:0010627 subcla MONDO:0010385 X-linked lymphoproliferative syndrome 2 NCIT NCIT:C126295 one_to_one MONDO:0010385 X-linked lymphoproliferative syndrome 2 OMIM OMIM:300635 one_to_one MONDO:0010385 X-linked lymphoproliferative syndrome 2 UMLS UMLS:C1845076 one_to_one +MONDO:0010385 X-linked lymphoproliferative syndrome 2 http http://identifiers.org/hgnc/592 disease_has_basis_in_dysfunction_of MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency GARD GARD:0012915 one_to_one MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency ICD10 ICD10:D84.8 inexact MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency MESH MESH:C567070 one_to_one @@ -60990,20 +62585,24 @@ MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency OMIM OMIM:300636 one_to_one MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Orphanet Orphanet:319612 one_to_one MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency UMLS UMLS:C1970879 one_to_one +MONDO:0010386 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency http http://identifiers.org/hgnc/5961 disease_has_basis_in_dysfunction_of MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 MESH MESH:C564468 one_to_one MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 MONDO MONDO:0000049 subclass MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 OMIM OMIM:300640 one_to_one MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 UMLS UMLS:C1845073 one_to_one +MONDO:0010387 invasive pneumococcal disease, recurrent isolated, 2 http http://identifiers.org/hgnc/5961 disease_has_basis_in_dysfunction_of MONDO:0010388 rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked MESH MESH:C564467 one_to_one MONDO:0010388 rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked MONDO MONDO:0015587 subclass MONDO:0010388 rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked OMIM OMIM:300643 one_to_one MONDO:0010388 rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked UMLS UMLS:C1845070 one_to_one +MONDO:0010388 rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked http http://identifiers.org/hgnc/30668 disease_has_basis_in_dysfunction_of MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency ICD10 ICD10:D84.8 inexact MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MESH MESH:C567068 one_to_one MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency MONDO MONDO:0017905 subclass MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency OMIM OMIM:300645 one_to_one MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency Orphanet Orphanet:319623 one_to_one MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency UMLS UMLS:C1970859 one_to_one +MONDO:0010389 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency http http://identifiers.org/hgnc/2578 disease_has_basis_in_dysfunction_of MONDO:0010390 ocular albinism with late-onset sensorineural deafness GARD GARD:0000592 one_to_one MONDO:0010390 ocular albinism with late-onset sensorineural deafness ICD10 ICD10:E70.3 inexact MONDO:0010390 ocular albinism with late-onset sensorineural deafness MONDO MONDO:0015327,MONDO:0017304,MONDO:0019589 subclass @@ -61022,10 +62621,12 @@ MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficien MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency OMIM OMIM:300653 one_to_one MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency Orphanet Orphanet:713 one_to_one MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency UMLS UMLS:C1970848 one_to_one +MONDO:0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency http http://identifiers.org/hgnc/8896 disease_has_basis_in_dysfunction_of MONDO:0010393 intellectual disability, X-linked 93 MESH MESH:C567066 one_to_one MONDO:0010393 intellectual disability, X-linked 93 MONDO MONDO:0019181 subclass MONDO:0010393 intellectual disability, X-linked 93 OMIM OMIM:300659 one_to_one MONDO:0010393 intellectual disability, X-linked 93 UMLS UMLS:C1970841 one_to_one +MONDO:0010393 intellectual disability, X-linked 93 http http://identifiers.org/hgnc/17342 disease_has_basis_in_dysfunction_of MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome ICD10 ICD10:G11.4 inexact MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome MESH MESH:C567065 one_to_one MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome MONDO MONDO:0015952 subclass @@ -61035,14 +62636,16 @@ MONDO:0010394 leukoencephalopathy-metaphyseal chondrodysplasia syndrome UMLS UML MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity GO GO:0004749 disease_has_basis_in_disruption_of MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity ICD10 ICD10:E79.8 inexact MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MESH MESH:C567064 one_to_one -MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO MONDO:0015920,MONDO:0019236,MONDO:0019743,MONDO:0021196 subclass +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity MONDO MONDO:0015920,MONDO:0019236,MONDO:0019743,MONDO:0044976 subclass MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity OMIM OMIM:300661 one_to_one MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity Orphanet Orphanet:3222 one_to_one MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity UMLS UMLS:C1970827 one_to_one +MONDO:0010395 phosphoribosylpyrophosphate synthetase superactivity http http://identifiers.org/hgnc/9462 disease_has_basis_in_dysfunction_of MONDO:0010396 epileptic encephalopathy, early infantile, 2 MESH MESH:C564064 one_to_one -MONDO:0010396 epileptic encephalopathy, early infantile, 2 MONDO MONDO:0016021,MONDO:0017746,MONDO:0018097 subclass +MONDO:0010396 epileptic encephalopathy, early infantile, 2 MONDO MONDO:0016021,MONDO:0017746,MONDO:0018097,MONDO:0100039 subclass MONDO:0010396 epileptic encephalopathy, early infantile, 2 OMIM OMIM:300672 one_to_one MONDO:0010396 epileptic encephalopathy, early infantile, 2 UMLS UMLS:C1839333 one_to_one +MONDO:0010396 epileptic encephalopathy, early infantile, 2 http http://identifiers.org/hgnc/11411 disease_has_basis_in_dysfunction_of MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly ICD10 ICD10:Q02 inexact MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MESH MESH:C566878 one_to_one MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly MONDO MONDO:0015653,MONDO:0020070 subclass @@ -61050,12 +62653,14 @@ MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly NCIT NCIT:C MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly OMIM OMIM:300673 one_to_one MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly Orphanet Orphanet:209370 one_to_one MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly UMLS UMLS:C1968556 one_to_one +MONDO:0010397 severe neonatal-onset encephalopathy with microcephaly http http://identifiers.org/hgnc/6990 disease_has_basis_in_dysfunction_of MONDO:0010398 syndromic X-linked intellectual disability 14 DOID DOID:0060821 one_to_one MONDO:0010398 syndromic X-linked intellectual disability 14 ICD10 ICD10:Q87.8 inexact MONDO:0010398 syndromic X-linked intellectual disability 14 MESH MESH:C567063 one_to_one -MONDO:0010398 syndromic X-linked intellectual disability 14 MONDO MONDO:0010655 subclass +MONDO:0010398 syndromic X-linked intellectual disability 14 MONDO MONDO:0010655,MONDO:0020119 subclass MONDO:0010398 syndromic X-linked intellectual disability 14 OMIM OMIM:300676 one_to_one MONDO:0010398 syndromic X-linked intellectual disability 14 UMLS UMLS:C1970822 one_to_one +MONDO:0010398 syndromic X-linked intellectual disability 14 http http://identifiers.org/hgnc/20439 disease_has_basis_in_dysfunction_of MONDO:0010399 chromosome Xp21 deletion syndrome DOID DOID:0060427 one_to_one MONDO:0010399 chromosome Xp21 deletion syndrome ICD10 ICD10:Q99.8 inexact MONDO:0010399 chromosome Xp21 deletion syndrome ICD9 ICD9:277.6 inexact @@ -61069,17 +62674,20 @@ MONDO:0010400 X-linked scapuloperoneal muscular dystrophy MONDO MONDO:0000727,MO MONDO:0010400 X-linked scapuloperoneal muscular dystrophy OMIM OMIM:300695 one_to_one MONDO:0010400 X-linked scapuloperoneal muscular dystrophy Orphanet Orphanet:431272 one_to_one MONDO:0010400 X-linked scapuloperoneal muscular dystrophy UMLS UMLS:C2678061 one_to_one +MONDO:0010400 X-linked scapuloperoneal muscular dystrophy http http://identifiers.org/hgnc/3702 disease_has_basis_in_dysfunction_of MONDO:0010401 X-linked myopathy with postural muscle atrophy ICD10 ICD10:G71.0 inexact MONDO:0010401 X-linked myopathy with postural muscle atrophy MONDO MONDO:0016830 subclass MONDO:0010401 X-linked myopathy with postural muscle atrophy OMIM OMIM:300696 one_to_one MONDO:0010401 X-linked myopathy with postural muscle atrophy Orphanet Orphanet:178461 one_to_one MONDO:0010401 X-linked myopathy with postural muscle atrophy UMLS UMLS:C2678055 one_to_one +MONDO:0010401 X-linked myopathy with postural muscle atrophy http http://identifiers.org/hgnc/3702 disease_has_basis_in_dysfunction_of MONDO:0010402 syndromic X-linked intellectual disability 94 DOID DOID:0060823 one_to_one MONDO:0010402 syndromic X-linked intellectual disability 94 ICD10 ICD10:F72 inexact MONDO:0010402 syndromic X-linked intellectual disability 94 MESH MESH:C567479 one_to_one MONDO:0010402 syndromic X-linked intellectual disability 94 MONDO MONDO:0018222 subclass MONDO:0010402 syndromic X-linked intellectual disability 94 OMIM OMIM:300699 one_to_one MONDO:0010402 syndromic X-linked intellectual disability 94 UMLS UMLS:C2678051 one_to_one +MONDO:0010402 syndromic X-linked intellectual disability 94 http http://identifiers.org/hgnc/4573 disease_has_basis_in_dysfunction_of MONDO:0010403 albinism-deafness syndrome GARD GARD:0000589 one_to_one MONDO:0010403 albinism-deafness syndrome ICD10 ICD10:H90.5 inexact MONDO:0010403 albinism-deafness syndrome MESH MESH:C537042 one_to_one @@ -61106,6 +62714,7 @@ MONDO:0010407 syndromic X-linked intellectual disability Turner type MONDO MONDO MONDO:0010407 syndromic X-linked intellectual disability Turner type OMIM OMIM:300706 one_to_one MONDO:0010407 syndromic X-linked intellectual disability Turner type Orphanet Orphanet:85328 one_to_one MONDO:0010407 syndromic X-linked intellectual disability Turner type UMLS UMLS:C2678046 one_to_one +MONDO:0010407 syndromic X-linked intellectual disability Turner type http http://identifiers.org/hgnc/30892 disease_has_basis_in_dysfunction_of MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome GARD GARD:0010295 one_to_one MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MESH MESH:C567475 one_to_one @@ -61113,6 +62722,7 @@ MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome OMIM OMIM:300707 one_to_one MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome Orphanet Orphanet:140952 one_to_one MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome UMLS UMLS:C2678045 one_to_one +MONDO:0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome http http://identifiers.org/hgnc/28434 disease_has_basis_in_dysfunction_of MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type DOID DOID:0060813 one_to_one MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type ICD10 ICD10:Q87.8 inexact MONDO:0010409 syndromic X-linked intellectual disability Shrimpton type MESH MESH:C567474 one_to_one @@ -61142,10 +62752,12 @@ MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe MESH MESH:C MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe MONDO MONDO:0019948 subclass MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe OMIM OMIM:300717 one_to_one MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe UMLS UMLS:C2678027 one_to_one +MONDO:0010414 myopathy, reducing body, X-linked, early-onset, severe http http://identifiers.org/hgnc/3702 disease_has_basis_in_dysfunction_of MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset MESH MESH:C567468 one_to_one MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset MONDO MONDO:0019948 subclass MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset OMIM OMIM:300718 one_to_one MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset UMLS UMLS:C2678015 one_to_one +MONDO:0010415 myopathy, reducing body, X-linked, childhood-onset http http://identifiers.org/hgnc/3702 disease_has_basis_in_dysfunction_of MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities MESH MESH:C567467 one_to_one MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities MONDO MONDO:0003847 subclass MONDO:0010416 deafness, cataract, retinitis pigmentosa, and sperm abnormalities OMIM OMIM:300719 one_to_one @@ -61158,6 +62770,7 @@ MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO MONDO:0 MONDO:0010417 syndromic X-linked intellectual disability Najm type OMIM OMIM:300749 one_to_one MONDO:0010417 syndromic X-linked intellectual disability Najm type Orphanet Orphanet:163937 one_to_one MONDO:0010417 syndromic X-linked intellectual disability Najm type UMLS UMLS:C2677903 one_to_one +MONDO:0010417 syndromic X-linked intellectual disability Najm type http http://identifiers.org/hgnc/1497 disease_has_basis_in_dysfunction_of MONDO:0010418 hereditary spastic paraplegia 34 DOID DOID:0110785 one_to_one MONDO:0010418 hereditary spastic paraplegia 34 ICD10 ICD10:G11.4 inexact MONDO:0010418 hereditary spastic paraplegia 34 MESH MESH:C567465 one_to_one @@ -61174,12 +62787,14 @@ MONDO:0010419 X-linked sideroblastic anemia MONDO MONDO:0000425,MONDO:0015194,MO MONDO:0010419 X-linked sideroblastic anemia OMIM OMIM:300751 one_to_one MONDO:0010419 X-linked sideroblastic anemia Orphanet Orphanet:75563 one_to_one MONDO:0010419 X-linked sideroblastic anemia SCTID SCTID:62677000 one_to_one +MONDO:0010419 X-linked sideroblastic anemia http http://identifiers.org/hgnc/397 disease_has_basis_in_dysfunction_of MONDO:0010420 X-linked erythropoietic protoporphyria HP HP:0001417 has_modifier MONDO:0010420 X-linked erythropoietic protoporphyria ICD10 ICD10:E80.0 inexact MONDO:0010420 X-linked erythropoietic protoporphyria MESH MESH:C567464 one_to_one MONDO:0010420 X-linked erythropoietic protoporphyria MONDO MONDO:0000425,MONDO:0001676,MONDO:0015115,MONDO:0019142 subclass MONDO:0010420 X-linked erythropoietic protoporphyria OMIM OMIM:300752 one_to_one MONDO:0010420 X-linked erythropoietic protoporphyria Orphanet Orphanet:443197 one_to_one +MONDO:0010420 X-linked erythropoietic protoporphyria http http://identifiers.org/hgnc/397 disease_has_basis_in_dysfunction_of MONDO:0010421 Bruton-type agammaglobulinemia DOID DOID:14179 one_to_one MONDO:0010421 Bruton-type agammaglobulinemia GARD GARD:0001033 one_to_one MONDO:0010421 Bruton-type agammaglobulinemia HP HP:0002721 disease_has_feature @@ -61191,6 +62806,7 @@ MONDO:0010421 Bruton-type agammaglobulinemia NCIT NCIT:C3822 one_to_one MONDO:0010421 Bruton-type agammaglobulinemia OMIM OMIM:300755 one_to_one MONDO:0010421 Bruton-type agammaglobulinemia Orphanet Orphanet:47 one_to_one MONDO:0010421 Bruton-type agammaglobulinemia UMLS UMLS:C0221026 one_to_one +MONDO:0010421 Bruton-type agammaglobulinemia http http://identifiers.org/hgnc/1133 disease_has_basis_in_dysfunction_of MONDO:0010422 Alzheimer disease 16 DOID DOID:0110036 one_to_one MONDO:0010422 Alzheimer disease 16 MESH MESH:C567463 one_to_one MONDO:0010422 Alzheimer disease 16 MONDO MONDO:0004975 subclass @@ -61200,6 +62816,7 @@ MONDO:0010423 hypospadias 2, X-linked MESH MESH:C567462 one_to_one MONDO:0010423 hypospadias 2, X-linked MONDO MONDO:0005345 subclass MONDO:0010423 hypospadias 2, X-linked OMIM OMIM:300758 one_to_one MONDO:0010423 hypospadias 2, X-linked UMLS UMLS:C2677879 one_to_one +MONDO:0010423 hypospadias 2, X-linked http http://identifiers.org/hgnc/2568 disease_has_basis_in_dysfunction_of MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 MESH MESH:C567461 one_to_one MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 MONDO MONDO:0012580 subclass MONDO:0010424 surfactant metabolism dysfunction, pulmonary, 4 OMIM OMIM:300770 one_to_one @@ -61224,6 +62841,7 @@ MONDO:0010427 syndromic X-linked intellectual disability Raymond type ICD10 ICD1 MONDO:0010427 syndromic X-linked intellectual disability Raymond type MONDO MONDO:0020119 subclass MONDO:0010427 syndromic X-linked intellectual disability Raymond type OMIM OMIM:300799 one_to_one MONDO:0010427 syndromic X-linked intellectual disability Raymond type UMLS UMLS:C3275406 one_to_one +MONDO:0010427 syndromic X-linked intellectual disability Raymond type http http://identifiers.org/hgnc/18475 disease_has_basis_in_dysfunction_of MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome DOID DOID:0060461 one_to_one MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome GARD GARD:0012766 one_to_one MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome ICD10 ICD10:Q99.8 inexact @@ -61235,19 +62853,22 @@ MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome SCTID SCTID:7218810 MONDO:0010429 intellectual disability, X-linked 96 MONDO MONDO:0019181 subclass MONDO:0010429 intellectual disability, X-linked 96 OMIM OMIM:300802 one_to_one MONDO:0010429 intellectual disability, X-linked 96 UMLS UMLS:C3275408 one_to_one +MONDO:0010429 intellectual disability, X-linked 96 http http://identifiers.org/hgnc/11506 disease_has_basis_in_dysfunction_of MONDO:0010430 intellectual disability, X-linked 97 MESH MESH:C567583 one_to_one MONDO:0010430 intellectual disability, X-linked 97 MONDO MONDO:0019181 subclass MONDO:0010430 intellectual disability, X-linked 97 OMIM OMIM:300803 one_to_one MONDO:0010430 intellectual disability, X-linked 97 UMLS UMLS:C2749020 one_to_one +MONDO:0010430 intellectual disability, X-linked 97 http http://identifiers.org/hgnc/13128 disease_has_basis_in_dysfunction_of MONDO:0010431 Joubert syndrome 10 DOID DOID:0110981 one_to_one MONDO:0010431 Joubert syndrome 10 MESH MESH:C567582 one_to_one MONDO:0010431 Joubert syndrome 10 MONDO MONDO:0010176,MONDO:0018772 subclass -MONDO:0010431 Joubert syndrome 10 NCBIGene NCBIGene:8481 disease_has_basis_in_dysfunction_of MONDO:0010431 Joubert syndrome 10 OMIM OMIM:300804 one_to_one MONDO:0010431 Joubert syndrome 10 UMLS UMLS:C2749019 one_to_one +MONDO:0010431 Joubert syndrome 10 http http://identifiers.org/hgnc/2567 disease_has_basis_in_dysfunction_of MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect MESH MESH:C567581 one_to_one MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect MONDO MONDO:0002305,MONDO:0021181 subclass MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect OMIM OMIM:300807 one_to_one +MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect http http://identifiers.org/hgnc/3551 disease_has_basis_in_dysfunction_of MONDO:0010433 SLEB15 MONDO MONDO:0007915 subclass MONDO:0010433 SLEB15 OMIM OMIM:300809 one_to_one MONDO:0010434 synovial sarcoma (disease) DOID DOID:5485 one_to_one @@ -61267,13 +62888,16 @@ MONDO:0010434 synovial sarcoma (disease) ONCOTREE ONCOTREE:SYNS one_to_one MONDO:0010434 synovial sarcoma (disease) Orphanet Orphanet:3273 one_to_one MONDO:0010434 synovial sarcoma (disease) SCTID SCTID:302851001 one_to_one MONDO:0010434 synovial sarcoma (disease) UMLS UMLS:C0039101 one_to_one +MONDO:0010434 synovial sarcoma (disease) http http://identifiers.org/hgnc/11335,http://identifiers.org/hgnc/11336 disease_has_basis_in_dysfunction_of MONDO:0010435 nystagmus 6, congenital, X-linked MONDO MONDO:0005712 subclass MONDO:0010435 nystagmus 6, congenital, X-linked OMIM OMIM:300814 one_to_one MONDO:0010435 nystagmus 6, congenital, X-linked UMLS UMLS:C3151752 one_to_one +MONDO:0010435 nystagmus 6, congenital, X-linked http http://identifiers.org/hgnc/20145 disease_has_basis_in_dysfunction_of MONDO:0010436 chromosome Xq28 duplication syndrome MESH MESH:C567580 one_to_one MONDO:0010436 chromosome Xq28 duplication syndrome MONDO MONDO:0000762,MONDO:0010283 subclass 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 OMIM OMIM:300816 one_to_one @@ -61283,6 +62907,7 @@ MONDO:0010437 severe X-linked mitochondrial encephalomyopathy UMLS UMLS:C3151753 MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 MONDO MONDO:0018641 subclass MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 OMIM OMIM:300818 one_to_one MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 UMLS UMLS:C3806670 one_to_one +MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 http http://identifiers.org/hgnc/8957 disease_has_basis_in_dysfunction_of MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification GARD GARD:0008311 one_to_one MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification MESH MESH:C543241 one_to_one MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification MONDO MONDO:0003847 subclass @@ -61291,20 +62916,24 @@ MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification UMLS 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 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 MONDO:0010441 CK syndrome OMIM OMIM:300831 one_to_one MONDO:0010441 CK syndrome Orphanet Orphanet:251383 one_to_one MONDO:0010441 CK syndrome UMLS UMLS:C3151781 one_to_one +MONDO:0010441 CK syndrome http http://identifiers.org/hgnc/13398 disease_has_basis_in_dysfunction_of MONDO:0010442 46,XX sex reversal 3 MONDO MONDO:0010766 subclass MONDO:0010442 46,XX sex reversal 3 OMIM OMIM:300833 one_to_one MONDO:0010442 46,XX sex reversal 3 UMLS UMLS:C3151782 one_to_one MONDO:0010443 macular degeneration, X-linked atrophic MONDO MONDO:0015993 subclass MONDO:0010443 macular degeneration, X-linked atrophic OMIM OMIM:300834 one_to_one MONDO:0010443 macular degeneration, X-linked atrophic UMLS UMLS:C3151784 one_to_one +MONDO:0010443 macular degeneration, X-linked atrophic http http://identifiers.org/hgnc/10295 disease_has_basis_in_dysfunction_of MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia ICD10 ICD10:D64.4 inexact MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia MONDO MONDO:0016361,MONDO:0019403 subclass MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia OMIM OMIM:300835 one_to_one MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia Orphanet Orphanet:363727 one_to_one +MONDO:0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia http http://identifiers.org/hgnc/4170 disease_has_basis_in_dysfunction_of MONDO:0010446 X-linked cone dysfunction syndrome with myopia ICD10 ICD10:H53.8 inexact MONDO:0010446 X-linked cone dysfunction syndrome with myopia MESH MESH:C564092 one_to_one MONDO:0010446 X-linked cone dysfunction syndrome with myopia MONDO MONDO:0020208 subclass @@ -61316,21 +62945,25 @@ MONDO:0010447 intellectual disability, X-linked 19 MESH MESH:C563141 one_to_one MONDO:0010447 intellectual disability, X-linked 19 MONDO MONDO:0019181 subclass MONDO:0010447 intellectual disability, X-linked 19 OMIM OMIM:300844 one_to_one MONDO:0010447 intellectual disability, X-linked 19 UMLS UMLS:C0796225 one_to_one +MONDO:0010447 intellectual disability, X-linked 19 http http://identifiers.org/hgnc/10432 disease_has_basis_in_dysfunction_of MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO MONDO:0015906,MONDO:0016820,MONDO:0018792,MONDO:0043007 subclass MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome OMIM OMIM:300845 one_to_one MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Orphanet Orphanet:280679 one_to_one MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome UMLS UMLS:C3151857 one_to_one MONDO:0010449 autism, susceptibility to, X-linked 5 MONDO MONDO:0005260 subclass MONDO:0010449 autism, susceptibility to, X-linked 5 OMIM OMIM:300847 one_to_one +MONDO:0010449 autism, susceptibility to, X-linked 5 http http://identifiers.org/hgnc/10298 disease_has_basis_in_dysfunction_of MONDO:0010450 MRX89 MESH MESH:C564036 one_to_one MONDO:0010450 MRX89 MONDO MONDO:0019181 subclass MONDO:0010450 MRX89 OMIM OMIM:300848 one_to_one MONDO:0010451 intellectual disability, X-linked 41 MONDO MONDO:0019181 subclass MONDO:0010451 intellectual disability, X-linked 41 OMIM OMIM:300849 one_to_one MONDO:0010451 intellectual disability, X-linked 41 UMLS UMLS:C3887939 one_to_one +MONDO:0010451 intellectual disability, X-linked 41 http http://identifiers.org/hgnc/4226 disease_has_basis_in_dysfunction_of MONDO:0010452 intellectual disability, X-linked 90 MONDO MONDO:0019181 subclass MONDO:0010452 intellectual disability, X-linked 90 OMIM OMIM:300850 one_to_one MONDO:0010452 intellectual disability, X-linked 90 UMLS UMLS:C3275443 one_to_one +MONDO:0010452 intellectual disability, X-linked 90 http http://identifiers.org/hgnc/2902 disease_has_basis_in_dysfunction_of MONDO:0010453 MRX92 MESH MESH:C564483 one_to_one MONDO:0010453 MRX92 MONDO MONDO:0019181 subclass MONDO:0010453 MRX92 OMIM OMIM:300851 one_to_one @@ -61345,24 +62978,28 @@ MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr viru MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Orphanet Orphanet:317476 one_to_one MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia SCTID SCTID:711481001 one_to_one MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia UMLS UMLS:C3275445 one_to_one +MONDO:0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia http http://identifiers.org/hgnc/28880 disease_has_basis_in_dysfunction_of MONDO:0010456 renal cell carcinoma, Xp11-associated MONDO MONDO:0017886 subclass MONDO:0010456 renal cell carcinoma, Xp11-associated OMIM OMIM:300854 one_to_one MONDO:0010456 renal cell carcinoma, Xp11-associated UMLS UMLS:C3275446 one_to_one +MONDO:0010456 renal cell carcinoma, Xp11-associated http http://identifiers.org/hgnc/11752 disease_has_basis_in_dysfunction_of MONDO:0010457 Ogden syndrome DOID DOID:0050781 one_to_one MONDO:0010457 Ogden syndrome GARD GARD:0000188 one_to_one MONDO:0010457 Ogden syndrome GO GO:0008080 disease_has_basis_in_disruption_of MONDO:0010457 Ogden syndrome MESH MESH:C536107 one_to_one -MONDO:0010457 Ogden syndrome MONDO MONDO:0000425,MONDO:0015333,MONDO:0015960,MONDO:0021196 subclass +MONDO:0010457 Ogden syndrome MONDO MONDO:0000425,MONDO:0015333,MONDO:0015960,MONDO:0044976 subclass MONDO:0010457 Ogden syndrome OMIM OMIM:300855 one_to_one MONDO:0010457 Ogden syndrome Orphanet Orphanet:276432 one_to_one MONDO:0010457 Ogden syndrome UMLS UMLS:C3275447 one_to_one +MONDO:0010457 Ogden syndrome http http://identifiers.org/hgnc/18704 disease_has_basis_in_dysfunction_of +MONDO:0010457 Ogden syndrome http http://identifiers.org/hgnc/7645 one_to_one MONDO:0010458 hypospadias 4, X-linked MONDO MONDO:0005345 subclass MONDO:0010458 hypospadias 4, X-linked OMIM OMIM:300856 one_to_one MONDO:0010459 amyotrophic lateral sclerosis type 15 DOID DOID:0060206 one_to_one MONDO:0010459 amyotrophic lateral sclerosis type 15 MONDO MONDO:0004976,MONDO:0005144 subclass -MONDO:0010459 amyotrophic lateral sclerosis type 15 NCBIGene NCBIGene:29978 disease_has_basis_in_dysfunction_of MONDO:0010459 amyotrophic lateral sclerosis type 15 OMIM OMIM:300857 one_to_one MONDO:0010459 amyotrophic lateral sclerosis type 15 UMLS UMLS:C3275459 one_to_one +MONDO:0010459 amyotrophic lateral sclerosis type 15 http http://identifiers.org/hgnc/12509 disease_has_basis_in_dysfunction_of MONDO:0010460 syndromic X-linked intellectual disability 17 DOID DOID:0060803 one_to_one MONDO:0010460 syndromic X-linked intellectual disability 17 MONDO MONDO:0020119,MONDO:0020194 subclass MONDO:0010460 syndromic X-linked intellectual disability 17 OMIM OMIM:300858 one_to_one @@ -61374,6 +63011,7 @@ MONDO:0010461 syndromic X-linked intellectual disability Nascimento type MONDO M MONDO:0010461 syndromic X-linked intellectual disability Nascimento type OMIM OMIM:300860 one_to_one MONDO:0010461 syndromic X-linked intellectual disability Nascimento type Orphanet Orphanet:163956 one_to_one MONDO:0010461 syndromic X-linked intellectual disability Nascimento type UMLS UMLS:C3275464 one_to_one +MONDO:0010461 syndromic X-linked intellectual disability Nascimento type http http://identifiers.org/hgnc/12472 disease_has_basis_in_dysfunction_of MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type DOID DOID:0060819 one_to_one MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type MONDO MONDO:0020119 subclass MONDO:0010462 syndromic X-linked intellectual disability Chudley-Schwartz type OMIM OMIM:300861 one_to_one @@ -61384,6 +63022,7 @@ MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM OM MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type Orphanet Orphanet:163966 one_to_one MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type SCTID SCTID:719837003 one_to_one MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type UMLS UMLS:C3275476 one_to_one +MONDO:0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type http http://identifiers.org/hgnc/14064 disease_has_basis_in_dysfunction_of MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome MONDO MONDO:0015960,MONDO:0017118,MONDO:0020119 subclass MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome OMIM OMIM:300864 one_to_one @@ -61392,6 +63031,7 @@ MONDO:0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome UMLS UMLS: MONDO:0010465 Kabuki syndrome 2 MONDO MONDO:0016512 subclass MONDO:0010465 Kabuki syndrome 2 OMIM OMIM:300867 one_to_one MONDO:0010465 Kabuki syndrome 2 UMLS UMLS:C3275495 one_to_one +MONDO:0010465 Kabuki syndrome 2 http http://identifiers.org/hgnc/12637 disease_has_basis_in_dysfunction_of MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 DOID DOID:0080139 one_to_one MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 GARD GARD:0012777 one_to_one MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 ICD10 ICD10:Q87.8 inexact @@ -61399,6 +63039,7 @@ MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 OMIM OMIM:300868 one_to_one MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 Orphanet Orphanet:300496 one_to_one MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 UMLS UMLS:C3275508 one_to_one +MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 http http://identifiers.org/hgnc/8957 disease_has_basis_in_dysfunction_of MONDO:0010467 Xq27.3q28 duplication syndrome ICD10 ICD10:Q99.8 inexact MONDO:0010467 Xq27.3q28 duplication syndrome MONDO MONDO:0000762,MONDO:0017010 subclass MONDO:0010467 Xq27.3q28 duplication syndrome OMIM OMIM:300869 one_to_one @@ -61411,6 +63052,7 @@ MONDO:0010468 ANIB5 UMLS UMLS:C1835857 one_to_one MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency MONDO MONDO:0005260 subclass MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency OMIM OMIM:300872 one_to_one MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency UMLS UMLS:C3550875 one_to_one +MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency http http://identifiers.org/hgnc/18308 disease_has_basis_in_dysfunction_of MONDO:0010470 Baratela-Scott syndrome MONDO MONDO:0015426 subclass MONDO:0010470 Baratela-Scott syndrome OMIM OMIM:300881 one_to_one MONDO:0010470 Baratela-Scott syndrome UMLS UMLS:C3550876 one_to_one @@ -61423,14 +63065,17 @@ MONDO:0010472 ALG13-CDG MONDO MONDO:0005500,MONDO:0017740,MONDO:0018287,MONDO:00 MONDO:0010472 ALG13-CDG OMIM OMIM:300884 one_to_one MONDO:0010472 ALG13-CDG Orphanet Orphanet:324422 one_to_one MONDO:0010472 ALG13-CDG UMLS UMLS:C3550904 one_to_one +MONDO:0010472 ALG13-CDG http http://identifiers.org/hgnc/30881 disease_has_basis_in_dysfunction_of MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome DOID DOID:0060828 one_to_one MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome MONDO MONDO:0015110,MONDO:0020119 subclass MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome OMIM OMIM:300886 one_to_one MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Orphanet Orphanet:324410 one_to_one MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome UMLS UMLS:C3550913 one_to_one +MONDO:0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome http http://identifiers.org/hgnc/2063 disease_has_basis_in_dysfunction_of MONDO:0010474 linear skin defects with multiple congenital anomalies 2 MONDO MONDO:0010672 subclass MONDO:0010474 linear skin defects with multiple congenital anomalies 2 OMIM OMIM:300887 one_to_one MONDO:0010474 linear skin defects with multiple congenital anomalies 2 UMLS UMLS:C3550921 one_to_one +MONDO:0010474 linear skin defects with multiple congenital anomalies 2 http http://identifiers.org/hgnc/2291 disease_has_basis_in_dysfunction_of MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement DOID DOID:0111140 one_to_one MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement ICD10 ICD10:E03.1 inexact MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement MONDO MONDO:0000425,MONDO:0015778,MONDO:0016410 subclass @@ -61438,6 +63083,7 @@ MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicu MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement OMIM OMIM:300888 one_to_one MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement Orphanet Orphanet:329235 one_to_one MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement UMLS UMLS:C3550963 one_to_one +MONDO:0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement http http://identifiers.org/hgnc/5948 disease_has_basis_in_dysfunction_of MONDO:0010476 neurodegeneration with brain iron accumulation 5 DOID DOID:0110739 one_to_one MONDO:0010476 neurodegeneration with brain iron accumulation 5 GARD GARD:0012570 one_to_one MONDO:0010476 neurodegeneration with brain iron accumulation 5 ICD10 ICD10:G23.0 inexact @@ -61445,6 +63091,7 @@ MONDO:0010476 neurodegeneration with brain iron accumulation 5 MONDO MONDO:00183 MONDO:0010476 neurodegeneration with brain iron accumulation 5 OMIM OMIM:300894 one_to_one MONDO:0010476 neurodegeneration with brain iron accumulation 5 Orphanet Orphanet:329284 one_to_one MONDO:0010476 neurodegeneration with brain iron accumulation 5 UMLS UMLS:C3550973,UMLS:CN168656 inexact +MONDO:0010476 neurodegeneration with brain iron accumulation 5 http http://identifiers.org/hgnc/28912 disease_has_basis_in_dysfunction_of MONDO:0010477 blepharophimosis-intellectual disability syndrome, MKB type ICD9 ICD9:759.89 inexact MONDO:0010477 blepharophimosis-intellectual disability syndrome, MKB type MONDO MONDO:0000734,MONDO:0043005,MONDO:0100000 subclass MONDO:0010477 blepharophimosis-intellectual disability syndrome, MKB type OMIM OMIM:300895 one_to_one @@ -61457,6 +63104,7 @@ MONDO:0010478 SLC35A2-CDG MONDO MONDO:0005501,MONDO:0015653,MONDO:0015960,MONDO: MONDO:0010478 SLC35A2-CDG OMIM OMIM:300896 one_to_one MONDO:0010478 SLC35A2-CDG Orphanet Orphanet:356961 one_to_one MONDO:0010478 SLC35A2-CDG UMLS UMLS:C3806688 one_to_one +MONDO:0010478 SLC35A2-CDG http http://identifiers.org/hgnc/11022 disease_has_basis_in_dysfunction_of MONDO:0010479 Charcot-Marie-tooth disease X-linked dominant 6 DOID DOID:0110207 one_to_one MONDO:0010479 Charcot-Marie-tooth disease X-linked dominant 6 GARD GARD:0012445 one_to_one MONDO:0010479 Charcot-Marie-tooth disease X-linked dominant 6 ICD10 ICD10:G60.0 inexact @@ -61468,6 +63116,7 @@ MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency MESH MESH MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency MONDO MONDO:0000105,MONDO:0015972 subclass MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency OMIM OMIM:300908 one_to_one MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency UMLS UMLS:C2720289 one_to_one +MONDO:0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency http http://identifiers.org/hgnc/4057 disease_has_basis_in_dysfunction_of MONDO:0010481 angioedema COHD COHD:432791 one_to_one MONDO:0010481 angioedema CSP CSP:2716-7007 one_to_one MONDO:0010481 angioedema DOID DOID:1558 one_to_one @@ -61483,91 +63132,112 @@ MONDO:0010482 X-linked parkinsonism-spasticity syndrome MONDO MONDO:0017661 subc MONDO:0010482 X-linked parkinsonism-spasticity syndrome OMIM OMIM:300911 one_to_one MONDO:0010482 X-linked parkinsonism-spasticity syndrome Orphanet Orphanet:363654 one_to_one MONDO:0010482 X-linked parkinsonism-spasticity syndrome UMLS UMLS:C3806722 one_to_one +MONDO:0010482 X-linked parkinsonism-spasticity syndrome http http://identifiers.org/hgnc/18305 disease_has_basis_in_dysfunction_of MONDO:0010483 X-linked intellectual disability, Cantagrel type ICD10 ICD10:Q87.8 inexact MONDO:0010483 X-linked intellectual disability, Cantagrel type MONDO MONDO:0020119 subclass MONDO:0010483 X-linked intellectual disability, Cantagrel type OMIM OMIM:300912 one_to_one MONDO:0010483 X-linked intellectual disability, Cantagrel type Orphanet Orphanet:85277 one_to_one MONDO:0010483 X-linked intellectual disability, Cantagrel type SCTID SCTID:719016007 one_to_one MONDO:0010483 X-linked intellectual disability, Cantagrel type UMLS UMLS:C3806730 one_to_one +MONDO:0010483 X-linked intellectual disability, Cantagrel type http http://identifiers.org/hgnc/29433 disease_has_basis_in_dysfunction_of MONDO:0010484 deafness, X-linked 6 MONDO MONDO:0019586 subclass MONDO:0010484 deafness, X-linked 6 OMIM OMIM:300914 one_to_one MONDO:0010484 deafness, X-linked 6 UMLS UMLS:C3806737 one_to_one +MONDO:0010484 deafness, X-linked 6 http http://identifiers.org/hgnc/2208 disease_has_basis_in_dysfunction_of MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome ICD10 ICD10:Q87.0 inexact MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome MONDO MONDO:0000425,MONDO:0015159,MONDO:0015329,MONDO:0016073,MONDO:0043005 subclass MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome OMIM OMIM:300915 one_to_one MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome Orphanet Orphanet:431140 one_to_one MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome UMLS UMLS:C3806742 one_to_one +MONDO:0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome http http://identifiers.org/hgnc/5004 disease_has_basis_in_dysfunction_of MONDO:0010486 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked MONDO MONDO:0019014 subclass MONDO:0010486 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked OMIM OMIM:300918 one_to_one MONDO:0010486 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked UMLS UMLS:C3806745 one_to_one +MONDO:0010486 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked http http://identifiers.org/hgnc/15455 disease_has_basis_in_dysfunction_of MONDO:0010487 intellectual disability, X-linked 99 MONDO MONDO:0019181 subclass MONDO:0010487 intellectual disability, X-linked 99 OMIM OMIM:300919 one_to_one MONDO:0010487 intellectual disability, X-linked 99 UMLS UMLS:C3806746 one_to_one +MONDO:0010487 intellectual disability, X-linked 99 http http://identifiers.org/hgnc/12632 disease_has_basis_in_dysfunction_of MONDO:0010488 intellectual disability, X-linked 100 MONDO MONDO:0019181 subclass MONDO:0010488 intellectual disability, X-linked 100 OMIM OMIM:300923 one_to_one MONDO:0010488 intellectual disability, X-linked 100 UMLS UMLS:C3890167 one_to_one +MONDO:0010488 intellectual disability, X-linked 100 http http://identifiers.org/hgnc/13339 disease_has_basis_in_dysfunction_of MONDO:0010489 intellectual disability, X-linked 101 MONDO MONDO:0019181 subclass MONDO:0010489 intellectual disability, X-linked 101 OMIM OMIM:300928 one_to_one MONDO:0010489 intellectual disability, X-linked 101 UMLS UMLS:C3890168 one_to_one +MONDO:0010489 intellectual disability, X-linked 101 http http://identifiers.org/hgnc/7096 disease_has_basis_in_dysfunction_of MONDO:0010490 SSR4-CDG GARD GARD:0012405 one_to_one MONDO:0010490 SSR4-CDG ICD10 ICD10:E77.8 inexact MONDO:0010490 SSR4-CDG MONDO MONDO:0005500,MONDO:0015159,MONDO:0015327,MONDO:0017740,MONDO:0018287,MONDO:0043005 subclass MONDO:0010490 SSR4-CDG OMIM OMIM:300934 one_to_one MONDO:0010490 SSR4-CDG Orphanet Orphanet:370927 one_to_one MONDO:0010490 SSR4-CDG UMLS UMLS:C4012395 one_to_one +MONDO:0010490 SSR4-CDG http http://identifiers.org/hgnc/11326 disease_has_basis_in_dysfunction_of MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication ICD10 ICD10:E22.0 inexact MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication MONDO MONDO:0000425,MONDO:0000762,MONDO:0017009,MONDO:0017581 subclass MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication OMIM OMIM:300942 one_to_one MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication Orphanet Orphanet:448372 one_to_one MONDO:0010491 X-linked acrogigantism due to Xq26 microduplication UMLS UMLS:C3891556,UMLS:CN237731 inexact -MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 MONDO MONDO:0019933 subclass +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 MONDO MONDO:0006373,MONDO:0019933 subclass MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 OMIM OMIM:300943 one_to_one MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 UMLS UMLS:C4012409 one_to_one +MONDO:0010492 pituitary adenoma, growth hormone-secreting, 2 http http://identifiers.org/hgnc/14963 disease_has_basis_in_dysfunction_of MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis MONDO MONDO:0015253 subclass MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis OMIM OMIM:300946 one_to_one MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis UMLS UMLS:C4225422 one_to_one +MONDO:0010493 Diamond-Blackfan anemia 14 with mandibulofacial dysostosis http http://identifiers.org/hgnc/25455 disease_has_basis_in_dysfunction_of MONDO:0010494 linear skin defects with multiple congenital anomalies 3 MONDO MONDO:0010672 subclass MONDO:0010494 linear skin defects with multiple congenital anomalies 3 OMIM OMIM:300952 one_to_one MONDO:0010494 linear skin defects with multiple congenital anomalies 3 UMLS UMLS:C4225421 one_to_one +MONDO:0010494 linear skin defects with multiple congenital anomalies 3 http http://identifiers.org/hgnc/20372 disease_has_basis_in_dysfunction_of MONDO:0010495 trichothiodystrophy 5, nonphotosensitive MONDO MONDO:0009317 subclass MONDO:0010495 trichothiodystrophy 5, nonphotosensitive OMIM OMIM:300953 one_to_one MONDO:0010495 trichothiodystrophy 5, nonphotosensitive UMLS UMLS:C4225420 one_to_one +MONDO:0010495 trichothiodystrophy 5, nonphotosensitive http http://identifiers.org/hgnc/12974 disease_has_basis_in_dysfunction_of MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome MONDO MONDO:0015159,MONDO:0015329,MONDO:0020119,MONDO:0043005 subclass MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome OMIM OMIM:300957 one_to_one MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome Orphanet Orphanet:457240 one_to_one MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome UMLS UMLS:C0796218 one_to_one +MONDO:0010496 X-linked intellectual disability-short stature-overweight syndrome http http://identifiers.org/hgnc/19073 disease_has_basis_in_dysfunction_of MONDO:0010497 intellectual disability, X-linked 102 GARD GARD:0012715 one_to_one MONDO:0010497 intellectual disability, X-linked 102 MONDO MONDO:0019181 subclass MONDO:0010497 intellectual disability, X-linked 102 NCIT NCIT:C129931 one_to_one 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 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 +MONDO:0010498 MEND syndrome http http://identifiers.org/hgnc/3133 disease_has_basis_in_dysfunction_of MONDO:0010499 Ritscher-Schinzel syndrome 2 DOID DOID:0060572 one_to_one MONDO:0010499 Ritscher-Schinzel syndrome 2 MONDO MONDO:0019078 subclass -MONDO:0010499 Ritscher-Schinzel syndrome 2 NCBIGene NCBIGene:28952 disease_has_basis_in_dysfunction_of MONDO:0010499 Ritscher-Schinzel syndrome 2 OMIM OMIM:300963 one_to_one MONDO:0010499 Ritscher-Schinzel syndrome 2 UMLS UMLS:C4225419 one_to_one +MONDO:0010499 Ritscher-Schinzel syndrome 2 http http://identifiers.org/hgnc/28909 disease_has_basis_in_dysfunction_of MONDO:0010500 intellectual disability, X-linked, syndromic 33 MONDO MONDO:0020119 subclass MONDO:0010500 intellectual disability, X-linked, syndromic 33 OMIM OMIM:300966 one_to_one MONDO:0010500 intellectual disability, X-linked, syndromic 33 UMLS UMLS:C4225418 one_to_one +MONDO:0010500 intellectual disability, X-linked, syndromic 33 http http://identifiers.org/hgnc/11535 disease_has_basis_in_dysfunction_of MONDO:0010501 syndromic X-linked intellectual disability 34 DOID DOID:0060817 one_to_one MONDO:0010501 syndromic X-linked intellectual disability 34 MONDO MONDO:0015159,MONDO:0020119,MONDO:0043005 subclass MONDO:0010501 syndromic X-linked intellectual disability 34 OMIM OMIM:300967 one_to_one MONDO:0010501 syndromic X-linked intellectual disability 34 Orphanet Orphanet:466791 one_to_one +MONDO:0010501 syndromic X-linked intellectual disability 34 http http://identifiers.org/hgnc/7871 disease_has_basis_in_dysfunction_of MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F MONDO MONDO:0020119 subclass MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F OMIM OMIM:300968 one_to_one +MONDO:0010502 intellectual disability, X-linked 99, syndromic, female-restricted; MRXS99F http http://identifiers.org/hgnc/12632 disease_has_basis_in_dysfunction_of MONDO:0010503 Bartter disease type 5 DOID DOID:0110147 one_to_one MONDO:0010503 Bartter disease type 5 ICD10 ICD10:E26.8 inexact MONDO:0010503 Bartter disease type 5 MONDO MONDO:0015231 subclass MONDO:0010503 Bartter disease type 5 OMIM OMIM:300971 one_to_one MONDO:0010503 Bartter disease type 5 UMLS UMLS:C4310820 one_to_one +MONDO:0010503 Bartter disease type 5 http http://identifiers.org/hgnc/16353 disease_has_basis_in_dysfunction_of MONDO:0010504 immunodeficiency 47; IMD47 MONDO MONDO:0003778,MONDO:0003847 subclass MONDO:0010504 immunodeficiency 47; IMD47 OMIM OMIM:300972 one_to_one MONDO:0010504 immunodeficiency 47; IMD47 UMLS UMLS:C4310819 one_to_one +MONDO:0010504 immunodeficiency 47; IMD47 http http://identifiers.org/hgnc/868 disease_has_basis_in_dysfunction_of 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 @@ -61579,40 +63249,51 @@ MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndro MONDO:0010506 intellectual disability, X-linked 61; MRX61 MONDO MONDO:0019181 subclass MONDO:0010506 intellectual disability, X-linked 61; MRX61 OMIM OMIM:300978 one_to_one MONDO:0010506 intellectual disability, X-linked 61; MRX61 UMLS UMLS:C4283894 one_to_one +MONDO:0010506 intellectual disability, X-linked 61; MRX61 http http://identifiers.org/hgnc/13429 disease_has_basis_in_dysfunction_of MONDO:0010507 Xq25 duplication syndrome MONDO MONDO:0000762 subclass MONDO:0010507 Xq25 duplication syndrome OMIM OMIM:300979 one_to_one MONDO:0010507 Xq25 duplication syndrome UMLS UMLS:C4311049 one_to_one MONDO:0010508 intellectual disability, X-linked 103; MRX103 MONDO MONDO:0019181 subclass MONDO:0010508 intellectual disability, X-linked 103; MRX103 OMIM OMIM:300982 one_to_one MONDO:0010508 intellectual disability, X-linked 103; MRX103 UMLS UMLS:C4310818 one_to_one +MONDO:0010508 intellectual disability, X-linked 103; MRX103 http http://identifiers.org/hgnc/29347 disease_has_basis_in_dysfunction_of MONDO:0010509 intellectual disability, X-linked 104; MRX104 MONDO MONDO:0019181 subclass MONDO:0010509 intellectual disability, X-linked 104; MRX104 OMIM OMIM:300983 one_to_one MONDO:0010509 intellectual disability, X-linked 104; MRX104 UMLS UMLS:C4310817 one_to_one +MONDO:0010509 intellectual disability, X-linked 104; MRX104 http http://identifiers.org/hgnc/29007 disease_has_basis_in_dysfunction_of MONDO:0010510 intellectual disability, X-linked 105; MRX105 MONDO MONDO:0019181 subclass MONDO:0010510 intellectual disability, X-linked 105; MRX105 OMIM OMIM:300984 one_to_one MONDO:0010510 intellectual disability, X-linked 105; MRX105 UMLS UMLS:C4310816 one_to_one +MONDO:0010510 intellectual disability, X-linked 105; MRX105 http http://identifiers.org/hgnc/13486 disease_has_basis_in_dysfunction_of MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX MONDO MONDO:0018801 subclass MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX OMIM OMIM:300985 one_to_one MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX UMLS UMLS:C4310815 one_to_one +MONDO:0010511 vas deferens, congenital bilateral aplasia of, X-linked; CBAVDX http http://identifiers.org/hgnc/4516 disease_has_basis_in_dysfunction_of MONDO:0010512 intellectual disability, X-linked, syndromic, bain type; MRXSB MONDO MONDO:0020119 subclass MONDO:0010512 intellectual disability, X-linked, syndromic, bain type; MRXSB OMIM OMIM:300986 one_to_one MONDO:0010512 intellectual disability, X-linked, syndromic, bain type; MRXSB UMLS UMLS:C4310814 one_to_one +MONDO:0010512 intellectual disability, X-linked, syndromic, bain type; MRXSB http http://identifiers.org/hgnc/5042 disease_has_basis_in_dysfunction_of MONDO:0010513 intellectual disability, X-linked, syndromic, Borck type; MRXSBRK MONDO MONDO:0020119 subclass MONDO:0010513 intellectual disability, X-linked, syndromic, Borck type; MRXSBRK OMIM OMIM:300987 one_to_one MONDO:0010513 intellectual disability, X-linked, syndromic, Borck type; MRXSBRK UMLS UMLS:C4310813 one_to_one +MONDO:0010513 intellectual disability, X-linked, syndromic, Borck type; MRXSBRK http http://identifiers.org/hgnc/3267 disease_has_basis_in_dysfunction_of MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO MONDO:0018814 subclass MONDO:0010514 combined immunodeficiency due to moesin deficiency OMIM OMIM:300988 one_to_one MONDO:0010514 combined immunodeficiency due to moesin deficiency Orphanet Orphanet:504530 one_to_one MONDO:0010514 combined immunodeficiency due to moesin deficiency UMLS UMLS:C4310812 one_to_one +MONDO:0010514 combined immunodeficiency due to moesin deficiency http http://identifiers.org/hgnc/7373 disease_has_basis_in_dysfunction_of MONDO:0010515 Meester-Loeys syndrome; MRLS MONDO MONDO:0003847 subclass MONDO:0010515 Meester-Loeys syndrome; MRLS OMIM OMIM:300989 one_to_one MONDO:0010515 Meester-Loeys syndrome; MRLS UMLS UMLS:C4310811 one_to_one +MONDO:0010515 Meester-Loeys syndrome; MRLS http http://identifiers.org/hgnc/1044 disease_has_basis_in_dysfunction_of MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN MONDO MONDO:0010263 subclass MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN OMIM OMIM:300990 one_to_one MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN UMLS UMLS:C4310810 one_to_one +MONDO:0010516 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis; MFHIEN http http://identifiers.org/hgnc/467 disease_has_basis_in_dysfunction_of MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked; CILD36 MONDO MONDO:0016575 subclass MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked; CILD36 OMIM OMIM:300991 one_to_one MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked; CILD36 UMLS UMLS:C4478372,UMLS:CN240511 inexact +MONDO:0010517 ciliary dyskinesia, primary, 36, X-linked; CILD36 http http://identifiers.org/hgnc/28570 disease_has_basis_in_dysfunction_of MONDO:0010518 Wiskott-Aldrich syndrome COHD COHD:440982 one_to_one MONDO:0010518 Wiskott-Aldrich syndrome DOID DOID:9169 one_to_one MONDO:0010518 Wiskott-Aldrich syndrome GARD GARD:0007895 one_to_one @@ -61636,6 +63317,7 @@ MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome OMIM O MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome Orphanet Orphanet:847 one_to_one MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome SCTID SCTID:715342005 one_to_one MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome UMLS UMLS:C1845055 one_to_one +MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome http http://identifiers.org/hgnc/886 disease_has_basis_in_dysfunction_of MONDO:0010520 X-linked Alport syndrome DOID DOID:0110034 one_to_one MONDO:0010520 X-linked Alport syndrome GARD GARD:0005785 one_to_one MONDO:0010520 X-linked Alport syndrome HP HP:0001417 has_modifier @@ -61645,12 +63327,13 @@ MONDO:0010520 X-linked Alport syndrome MedDRA MedDRA:10001843 inexact MONDO:0010520 X-linked Alport syndrome OMIM OMIM:301050 one_to_one MONDO:0010520 X-linked Alport syndrome Orphanet Orphanet:88917 one_to_one MONDO:0010520 X-linked Alport syndrome SCTID SCTID:717768004 one_to_one +MONDO:0010520 X-linked Alport syndrome http http://identifiers.org/hgnc/2207 disease_has_basis_in_dysfunction_of MONDO:0010521 amelogenesis imperfecta type 1E DOID DOID:0110058 one_to_one MONDO:0010521 amelogenesis imperfecta type 1E GARD GARD:0009943 one_to_one MONDO:0010521 amelogenesis imperfecta type 1E ICD10 ICD10:K00.5 inexact MONDO:0010521 amelogenesis imperfecta type 1E MONDO MONDO:0003847,MONDO:0015048,MONDO:0019507 subclass -MONDO:0010521 amelogenesis imperfecta type 1E NCBIGene NCBIGene:265 disease_has_basis_in_dysfunction_of MONDO:0010521 amelogenesis imperfecta type 1E OMIM OMIM:301200 one_to_one +MONDO:0010521 amelogenesis imperfecta type 1E http http://identifiers.org/hgnc/461 disease_has_basis_in_dysfunction_of MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 DOID DOID:0110059 one_to_one MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 GARD GARD:0009944 one_to_one MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ICD10 ICD10:K00.5 inexact @@ -61663,6 +63346,7 @@ MONDO:0010523 X-linked reticulate pigmentary disorder MONDO MONDO:0015710,MONDO: 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 +MONDO:0010523 X-linked reticulate pigmentary disorder http http://identifiers.org/hgnc/9173 disease_has_basis_in_dysfunction_of MONDO:0010524 X-linked sideroblastic anemia with ataxia DOID DOID:0050554,DOID:0060064 inexact MONDO:0010524 X-linked sideroblastic anemia with ataxia GARD GARD:0000668 one_to_one MONDO:0010524 X-linked sideroblastic anemia with ataxia ICD10 ICD10:D64.0 inexact @@ -61672,6 +63356,7 @@ MONDO:0010524 X-linked sideroblastic anemia with ataxia OMIM OMIM:301310 one_to_ MONDO:0010524 X-linked sideroblastic anemia with ataxia Orphanet Orphanet:2802 one_to_one MONDO:0010524 X-linked sideroblastic anemia with ataxia SCTID SCTID:719816006 one_to_one MONDO:0010524 X-linked sideroblastic anemia with ataxia UMLS UMLS:C1845028,UMLS:C4304338 inexact +MONDO:0010524 X-linked sideroblastic anemia with ataxia http http://identifiers.org/hgnc/48 disease_has_basis_in_dysfunction_of MONDO:0010525 neural tube defects, X-linked GARD GARD:0000669 one_to_one MONDO:0010525 neural tube defects, X-linked MESH MESH:C536359 one_to_one MONDO:0010525 neural tube defects, X-linked MONDO MONDO:0019351 subclass @@ -61679,14 +63364,16 @@ MONDO:0010525 neural tube defects, X-linked OMIM OMIM:301410 one_to_one MONDO:0010525 neural tube defects, X-linked UMLS UMLS:C1845026 one_to_one MONDO:0010526 Fabry disease DOID DOID:14499 one_to_one MONDO:0010526 Fabry disease GARD GARD:0006400 one_to_one +MONDO:0010526 Fabry disease GO GO:0004557 disease_has_basis_in_disruption_of MONDO:0010526 Fabry disease ICD10 ICD10:E75.2,ICD10:E75.21 inexact MONDO:0010526 Fabry disease MESH MESH:D000795 one_to_one -MONDO:0010526 Fabry disease MONDO MONDO:0015327,MONDO:0015905,MONDO:0015948,MONDO:0015955,MONDO:0016133,MONDO:0016326,MONDO:0016329,MONDO:0016341,MONDO:0018299,MONDO:0019255,MONDO:0019293,MONDO:0019313,MONDO:0019520,MONDO:0019743,MONDO:0020228,MONDO:0020279,MONDO:0024573 subclass +MONDO:0010526 Fabry disease MONDO MONDO:0015327,MONDO:0015905,MONDO:0015948,MONDO:0016133,MONDO:0016326,MONDO:0016329,MONDO:0016341,MONDO:0018299,MONDO:0019293,MONDO:0019313,MONDO:0019520,MONDO:0019743,MONDO:0020228,MONDO:0020279,MONDO:0044976 subclass MONDO:0010526 Fabry disease MedDRA MedDRA:10016016 one_to_one MONDO:0010526 Fabry disease NCIT NCIT:C84701 one_to_one MONDO:0010526 Fabry disease OMIM OMIM:301500 one_to_one MONDO:0010526 Fabry disease Orphanet Orphanet:324 one_to_one MONDO:0010526 Fabry disease UMLS UMLS:C0002986 one_to_one +MONDO:0010526 Fabry disease http http://identifiers.org/hgnc/4296 disease_has_basis_in_dysfunction_of MONDO:0010527 microphthalmia-ankyloblepharon-intellectual disability syndrome GARD GARD:0005066 one_to_one MONDO:0010527 microphthalmia-ankyloblepharon-intellectual disability syndrome ICD10 ICD10:Q11.2 inexact MONDO:0010527 microphthalmia-ankyloblepharon-intellectual disability syndrome MESH MESH:C564457 one_to_one @@ -61723,6 +63410,7 @@ MONDO:0010532 infantile-onset X-linked spinal muscular atrophy OMIM OMIM:301830 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 MONDO:0010532 infantile-onset X-linked spinal muscular atrophy UMLS UMLS:C1844934 one_to_one +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy http http://identifiers.org/hgnc/12469 disease_has_basis_in_dysfunction_of MONDO:0010533 Arts syndrome DOID DOID:0050647 one_to_one MONDO:0010533 Arts syndrome GARD GARD:0008756 one_to_one MONDO:0010533 Arts syndrome ICD10 ICD10:E79.8 inexact @@ -61733,6 +63421,7 @@ MONDO:0010533 Arts syndrome OMIM OMIM:301835 one_to_one MONDO:0010533 Arts syndrome Orphanet Orphanet:1187 one_to_one MONDO:0010533 Arts syndrome SCTID SCTID:702441001 one_to_one MONDO:0010533 Arts syndrome UMLS UMLS:C0796028 one_to_one +MONDO:0010533 Arts syndrome http http://identifiers.org/hgnc/9462 disease_has_basis_in_dysfunction_of MONDO:0010534 X-linked spinocerebellar ataxia type 4 GARD GARD:0009980 one_to_one MONDO:0010534 X-linked spinocerebellar ataxia type 4 ICD10 ICD10:G11.1 inexact MONDO:0010534 X-linked spinocerebellar ataxia type 4 MESH MESH:C537316 one_to_one @@ -61753,11 +63442,12 @@ MONDO:0010537 Borjeson-Forssman-Lehmann syndrome GARD GARD:0000936 one_to_one MONDO:0010537 Borjeson-Forssman-Lehmann syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010537 Borjeson-Forssman-Lehmann syndrome ICD9 ICD9:759.89 inexact MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MESH MESH:C536575 one_to_one -MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO MONDO:0015159,MONDO:0015653,MONDO:0016565,MONDO:0019052,MONDO:0020119,MONDO:0020169,MONDO:0043005 subclass +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome MONDO MONDO:0015159,MONDO:0015653,MONDO:0015656,MONDO:0016565,MONDO:0019052,MONDO:0020119,MONDO:0020169,MONDO:0043005 subclass MONDO:0010537 Borjeson-Forssman-Lehmann syndrome OMIM OMIM:301900 one_to_one MONDO:0010537 Borjeson-Forssman-Lehmann syndrome Orphanet Orphanet:127 one_to_one MONDO:0010537 Borjeson-Forssman-Lehmann syndrome SCTID SCTID:21634003 one_to_one MONDO:0010537 Borjeson-Forssman-Lehmann syndrome UMLS UMLS:C0265339 one_to_one +MONDO:0010537 Borjeson-Forssman-Lehmann syndrome http http://identifiers.org/hgnc/18145 disease_has_basis_in_dysfunction_of MONDO:0010538 Mononen-Karnes-Senac syndrome DOID DOID:0110973 one_to_one MONDO:0010538 Mononen-Karnes-Senac syndrome GARD GARD:0004886 one_to_one MONDO:0010538 Mononen-Karnes-Senac syndrome ICD10 ICD10:Q87.5 inexact @@ -61793,10 +63483,10 @@ MONDO:0010542 dilated cardiomyopathy 3B ICD10 ICD10:I42.0 inexact MONDO:0010542 dilated cardiomyopathy 3B ICD9 ICD9:425.4 inexact MONDO:0010542 dilated cardiomyopathy 3B MESH MESH:C580047 one_to_one MONDO:0010542 dilated cardiomyopathy 3B MONDO MONDO:0005021,MONDO:0015470 subclass -MONDO:0010542 dilated cardiomyopathy 3B NCBIGene NCBIGene:1756 disease_has_basis_in_dysfunction_of MONDO:0010542 dilated cardiomyopathy 3B OMIM OMIM:302045 one_to_one MONDO:0010542 dilated cardiomyopathy 3B SCTID SCTID:702424003 one_to_one MONDO:0010542 dilated cardiomyopathy 3B UMLS UMLS:C3668940 one_to_one +MONDO:0010542 dilated cardiomyopathy 3B http http://identifiers.org/hgnc/2928 disease_has_basis_in_dysfunction_of MONDO:0010543 Barth syndrome DOID DOID:0050476 one_to_one MONDO:0010543 Barth syndrome GARD GARD:0005890 one_to_one MONDO:0010543 Barth syndrome ICD10 ICD10:E71.1,ICD10:E78.71 inexact @@ -61807,12 +63497,14 @@ MONDO:0010543 Barth syndrome OMIM OMIM:302060 one_to_one MONDO:0010543 Barth syndrome Orphanet Orphanet:111 one_to_one MONDO:0010543 Barth syndrome SCTID SCTID:297231002 one_to_one MONDO:0010543 Barth syndrome UMLS UMLS:C0574083 one_to_one +MONDO:0010543 Barth syndrome http http://identifiers.org/hgnc/11577 disease_has_basis_in_dysfunction_of MONDO:0010544 cataract 40 DOID DOID:0110272 one_to_one MONDO:0010544 cataract 40 GARD GARD:0008278 one_to_one MONDO:0010544 cataract 40 ICD10 ICD10:Q12.0 inexact MONDO:0010544 cataract 40 MESH MESH:C535338 one_to_one MONDO:0010544 cataract 40 MONDO MONDO:0011060 subclass MONDO:0010544 cataract 40 OMIM OMIM:302200 one_to_one +MONDO:0010544 cataract 40 http http://identifiers.org/hgnc/7820 disease_has_basis_in_dysfunction_of MONDO:0010545 Nance-Horan syndrome DOID DOID:0060599 one_to_one MONDO:0010545 Nance-Horan syndrome GARD GARD:0007161 one_to_one MONDO:0010545 Nance-Horan syndrome ICD10 ICD10:Q87.0 inexact @@ -61823,6 +63515,7 @@ MONDO:0010545 Nance-Horan syndrome OMIM OMIM:302350 one_to_one MONDO:0010545 Nance-Horan syndrome Orphanet Orphanet:627 one_to_one MONDO:0010545 Nance-Horan syndrome SCTID SCTID:445257004 one_to_one MONDO:0010545 Nance-Horan syndrome UMLS UMLS:C0796085 one_to_one +MONDO:0010545 Nance-Horan syndrome http http://identifiers.org/hgnc/7820 disease_has_basis_in_dysfunction_of MONDO:0010546 central incisors, absence of MONDO MONDO:0003847 subclass MONDO:0010546 central incisors, absence of OMIM OMIM:302400 one_to_one MONDO:0010547 X-linked progressive cerebellar ataxia ICD10 ICD10:G11.1 inexact @@ -61844,6 +63537,7 @@ MONDO:0010549 Charcot-Marie-tooth disease X-linked dominant 1 NCIT NCIT:C129068 MONDO:0010549 Charcot-Marie-tooth disease X-linked dominant 1 OMIM OMIM:302800 one_to_one MONDO:0010549 Charcot-Marie-tooth disease X-linked dominant 1 Orphanet Orphanet:101075 one_to_one MONDO:0010549 Charcot-Marie-tooth disease X-linked dominant 1 UMLS UMLS:C0393808 one_to_one +MONDO:0010549 Charcot-Marie-tooth disease X-linked dominant 1 http http://identifiers.org/hgnc/4283 disease_has_basis_in_dysfunction_of MONDO:0010550 Charcot-Marie-tooth disease X-linked recessive 2 DOID DOID:0110208 one_to_one MONDO:0010550 Charcot-Marie-tooth disease X-linked recessive 2 GARD GARD:0001243 one_to_one MONDO:0010550 Charcot-Marie-tooth disease X-linked recessive 2 ICD10 ICD10:G60.0 inexact @@ -61876,12 +63570,14 @@ MONDO:0010554 Abruzzo-Erickson syndrome OMIM OMIM:302905 one_to_one MONDO:0010554 Abruzzo-Erickson syndrome Orphanet Orphanet:921 one_to_one MONDO:0010554 Abruzzo-Erickson syndrome SCTID SCTID:718574003 one_to_one MONDO:0010554 Abruzzo-Erickson syndrome UMLS UMLS:C1844862 one_to_one +MONDO:0010554 Abruzzo-Erickson syndrome http http://identifiers.org/hgnc/11600 disease_has_basis_in_dysfunction_of MONDO:0010555 X-linked chondrodysplasia punctata 1 GARD GARD:0001296 one_to_one MONDO:0010555 X-linked chondrodysplasia punctata 1 ICD10 ICD10:Q77.3 inexact MONDO:0010555 X-linked chondrodysplasia punctata 1 MONDO MONDO:0010556,MONDO:0019602 subclass MONDO:0010555 X-linked chondrodysplasia punctata 1 OMIM OMIM:302950 one_to_one MONDO:0010555 X-linked chondrodysplasia punctata 1 Orphanet Orphanet:79345 one_to_one MONDO:0010555 X-linked chondrodysplasia punctata 1 UMLS UMLS:C1844853,UMLS:C3669395 inexact +MONDO:0010555 X-linked chondrodysplasia punctata 1 http http://identifiers.org/hgnc/719 disease_has_basis_in_dysfunction_of 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 @@ -61889,6 +63585,7 @@ 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: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 MONDO:0010557 choroideremia DOID DOID:9821 one_to_one MONDO:0010557 choroideremia GARD GARD:0006061 one_to_one MONDO:0010557 choroideremia ICD10 ICD10:H31.2,ICD10:H31.21 inexact @@ -61901,6 +63598,7 @@ MONDO:0010557 choroideremia OMIM OMIM:303100 one_to_one MONDO:0010557 choroideremia Orphanet Orphanet:180 one_to_one MONDO:0010557 choroideremia SCTID SCTID:75241009 one_to_one MONDO:0010557 choroideremia UMLS UMLS:C0008525 one_to_one +MONDO:0010557 choroideremia http http://identifiers.org/hgnc/1940 disease_has_basis_in_dysfunction_of MONDO:0010558 choroideremia-deafness-obesity syndrome GARD GARD:0000369 one_to_one MONDO:0010558 choroideremia-deafness-obesity syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010558 choroideremia-deafness-obesity syndrome MESH MESH:C537793 one_to_one @@ -61918,10 +63616,12 @@ MONDO:0010559 MASA syndrome OMIM OMIM:303350 one_to_one MONDO:0010559 MASA syndrome Orphanet Orphanet:2466 one_to_one MONDO:0010559 MASA syndrome SCTID SCTID:716996008 one_to_one MONDO:0010559 MASA syndrome UMLS UMLS:C0795953 one_to_one +MONDO:0010559 MASA syndrome http http://identifiers.org/hgnc/6470 disease_has_basis_in_dysfunction_of MONDO:0010560 cleft palate with or without ankyloglossia, X-linked GARD GARD:0001394 one_to_one MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MESH MESH:C536426 one_to_one MONDO:0010560 cleft palate with or without ankyloglossia, X-linked MONDO MONDO:0015958,MONDO:0015960,MONDO:0016064 subclass MONDO:0010560 cleft palate with or without ankyloglossia, X-linked OMIM OMIM:303400 one_to_one +MONDO:0010560 cleft palate with or without ankyloglossia, X-linked http http://identifiers.org/hgnc/11600 disease_has_basis_in_dysfunction_of MONDO:0010561 Coffin-Lowry syndrome DOID DOID:3783 one_to_one MONDO:0010561 Coffin-Lowry syndrome GARD GARD:0006123,GARD:0008589 inexact MONDO:0010561 Coffin-Lowry syndrome ICD10 ICD10:Q87.0 inexact @@ -61933,6 +63633,7 @@ MONDO:0010561 Coffin-Lowry syndrome OMIM OMIM:303600 one_to_one MONDO:0010561 Coffin-Lowry syndrome Orphanet Orphanet:192 one_to_one MONDO:0010561 Coffin-Lowry syndrome SCTID SCTID:15182000 one_to_one MONDO:0010561 Coffin-Lowry syndrome UMLS UMLS:C0265252 one_to_one +MONDO:0010561 Coffin-Lowry syndrome http http://identifiers.org/hgnc/10432 disease_has_basis_in_dysfunction_of MONDO:0010562 colonic atresia (disease) GARD GARD:0001446 one_to_one MONDO:0010562 colonic atresia (disease) HP HP:0010448 one_to_one MONDO:0010562 colonic atresia (disease) ICD10 ICD10:Q42.9 one_to_one @@ -61951,6 +63652,7 @@ MONDO:0010563 blue cone monochromacy OMIM OMIM:303700 one_to_one MONDO:0010563 blue cone monochromacy Orphanet Orphanet:16 one_to_one MONDO:0010563 blue cone monochromacy SCTID SCTID:24704003 one_to_one MONDO:0010563 blue cone monochromacy UMLS UMLS:CN036572 one_to_one +MONDO:0010563 blue cone monochromacy http http://identifiers.org/hgnc/4206,http://identifiers.org/hgnc/9936 disease_has_basis_in_dysfunction_of 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 @@ -61959,6 +63661,7 @@ MONDO:0010564 red-green color blindness MONDO MONDO:0000014,MONDO:0003847,MONDO: 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 +MONDO:0010564 red-green color blindness http http://identifiers.org/hgnc/4206 disease_has_basis_in_dysfunction_of MONDO:0010565 red color blindness DOID DOID:13910 one_to_one MONDO:0010565 red color blindness EFO EFO:0005580 one_to_one MONDO:0010565 red color blindness ICD10 ICD10:H53.54 one_to_one @@ -61966,12 +63669,13 @@ MONDO:0010565 red color blindness ICD9 ICD9:368.51 one_to_one MONDO:0010565 red color blindness MONDO MONDO:0010564,MONDO:0015107 subclass MONDO:0010565 red color blindness OMIM OMIM:303900 one_to_one MONDO:0010565 red color blindness SCTID SCTID:51445007 one_to_one +MONDO:0010565 red color blindness http http://identifiers.org/hgnc/9936 disease_has_basis_in_dysfunction_of MONDO:0010566 X-linked cone-rod dystrophy 1 DOID DOID:0111008 one_to_one MONDO:0010566 X-linked cone-rod dystrophy 1 GARD GARD:0010652 one_to_one MONDO:0010566 X-linked cone-rod dystrophy 1 MESH MESH:C564438 one_to_one MONDO:0010566 X-linked cone-rod dystrophy 1 MONDO MONDO:0021155 subclass -MONDO:0010566 X-linked cone-rod dystrophy 1 NCBIGene NCBIGene:6103 disease_has_basis_in_dysfunction_of MONDO:0010566 X-linked cone-rod dystrophy 1 OMIM OMIM:304020 one_to_one +MONDO:0010566 X-linked cone-rod dystrophy 1 http http://identifiers.org/hgnc/10295 disease_has_basis_in_dysfunction_of MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen GARD GARD:0010119 one_to_one MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen MESH MESH:C535975 one_to_one MONDO:0010567 cone dystrophy, X-linked, with tapetal-like sheen MONDO MONDO:0000425,MONDO:0000455 subclass @@ -61996,6 +63700,7 @@ MONDO:0010569 X-linked complicated corpus callosum dysgenesis MONDO MONDO:001714 MONDO:0010569 X-linked complicated corpus callosum dysgenesis OMIM OMIM:304100 one_to_one MONDO:0010569 X-linked complicated corpus callosum dysgenesis Orphanet Orphanet:1497 one_to_one MONDO:0010569 X-linked complicated corpus callosum dysgenesis UMLS UMLS:C1839909 one_to_one +MONDO:0010569 X-linked complicated corpus callosum dysgenesis http http://identifiers.org/hgnc/6470 disease_has_basis_in_dysfunction_of MONDO:0010570 craniofrontonasal syndrome DOID DOID:14737 one_to_one MONDO:0010570 craniofrontonasal syndrome GARD GARD:0001578 one_to_one MONDO:0010570 craniofrontonasal syndrome ICD10 ICD10:Q87.1 inexact @@ -62005,6 +63710,7 @@ MONDO:0010570 craniofrontonasal syndrome OMIM OMIM:304110 one_to_one MONDO:0010570 craniofrontonasal syndrome Orphanet Orphanet:1520 one_to_one MONDO:0010570 craniofrontonasal syndrome SCTID SCTID:715421009 one_to_one MONDO:0010570 craniofrontonasal syndrome UMLS UMLS:C0220767 one_to_one +MONDO:0010570 craniofrontonasal syndrome http http://identifiers.org/hgnc/3226 disease_has_basis_in_dysfunction_of MONDO:0010571 otopalatodigital syndrome type 2 GARD GARD:0005802 one_to_one MONDO:0010571 otopalatodigital syndrome type 2 ICD10 ICD10:Q87.0 inexact MONDO:0010571 otopalatodigital syndrome type 2 ICD9 ICD9:759.89 inexact @@ -62013,6 +63719,7 @@ MONDO:0010571 otopalatodigital syndrome type 2 MONDO MONDO:0019027 subclass MONDO:0010571 otopalatodigital syndrome type 2 OMIM OMIM:304120 one_to_one MONDO:0010571 otopalatodigital syndrome type 2 Orphanet Orphanet:90652 one_to_one MONDO:0010571 otopalatodigital syndrome type 2 SCTID SCTID:42432003 one_to_one +MONDO:0010571 otopalatodigital syndrome type 2 http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010572 occipital horn syndrome GARD GARD:0004017 one_to_one MONDO:0010572 occipital horn syndrome ICD10 ICD10:E83.0 inexact MONDO:0010572 occipital horn syndrome MESH MESH:C537860 one_to_one @@ -62020,10 +63727,12 @@ MONDO:0010572 occipital horn syndrome MONDO MONDO:0015327,MONDO:0016175,MONDO:00 MONDO:0010572 occipital horn syndrome OMIM OMIM:304150 one_to_one MONDO:0010572 occipital horn syndrome Orphanet Orphanet:198 one_to_one MONDO:0010572 occipital horn syndrome SCTID SCTID:59399004 one_to_one +MONDO:0010572 occipital horn syndrome http http://identifiers.org/hgnc/869 disease_has_basis_in_dysfunction_of MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and mental retardation GARD GARD:0000578 one_to_one MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and mental retardation MESH MESH:C535610 one_to_one MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and mental retardation MONDO MONDO:0003847 subclass MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and mental retardation OMIM OMIM:304200 one_to_one +MONDO:0010573 cutis verticis gyrata, thyroid aplasia, and mental retardation Orphanet Orphanet:79482 one_to_one MONDO:0010574 syndromic X-linked intellectual disability 5 DOID DOID:0060800 one_to_one MONDO:0010574 syndromic X-linked intellectual disability 5 GARD GARD:0008520 one_to_one MONDO:0010574 syndromic X-linked intellectual disability 5 ICD10 ICD10:Q23.8,ICD10:Q87.8 inexact @@ -62048,6 +63757,7 @@ MONDO:0010576 X-linked mixed deafness with perilymphatic gusher MedDRA MedDRA:10 MONDO:0010576 X-linked mixed deafness with perilymphatic gusher OMIM OMIM:304400 one_to_one MONDO:0010576 X-linked mixed deafness with perilymphatic gusher Orphanet Orphanet:383 one_to_one MONDO:0010576 X-linked mixed deafness with perilymphatic gusher UMLS UMLS:C1844678 one_to_one +MONDO:0010576 X-linked mixed deafness with perilymphatic gusher http http://identifiers.org/hgnc/4284,http://identifiers.org/hgnc/4288,http://identifiers.org/hgnc/9217 disease_has_basis_in_dysfunction_of MONDO:0010577 deafness, X-linked 1 MESH MESH:C564433 one_to_one MONDO:0010577 deafness, X-linked 1 MONDO MONDO:0019586 subclass MONDO:0010577 deafness, X-linked 1 OMIM OMIM:304500 one_to_one @@ -62062,6 +63772,7 @@ MONDO:0010578 deafness dystonia syndrome OMIM OMIM:304700 one_to_one MONDO:0010578 deafness dystonia syndrome Orphanet Orphanet:52368 one_to_one MONDO:0010578 deafness dystonia syndrome SCTID SCTID:702423009 one_to_one MONDO:0010578 deafness dystonia syndrome UMLS UMLS:C0796074 one_to_one +MONDO:0010578 deafness dystonia syndrome http http://identifiers.org/hgnc/11817 disease_has_basis_in_dysfunction_of MONDO:0010579 X-linked corneal dermoid GARD GARD:0002580 one_to_one MONDO:0010579 X-linked corneal dermoid ICD10 ICD10:Q13.4 inexact MONDO:0010579 X-linked corneal dermoid MESH MESH:C535376 one_to_one @@ -62080,9 +63791,11 @@ MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndr MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome OMIM OMIM:304790 one_to_one MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Orphanet Orphanet:37042 one_to_one MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome SCTID SCTID:237618001 one_to_one +MONDO:0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome http http://identifiers.org/hgnc/6106 disease_has_basis_in_dysfunction_of MONDO:0010581 diabetes insipidus, nephrogenic, X-linked MONDO MONDO:0000425,MONDO:0016383 subclass MONDO:0010581 diabetes insipidus, nephrogenic, X-linked OMIM OMIM:304800 one_to_one MONDO:0010581 diabetes insipidus, nephrogenic, X-linked UMLS UMLS:C1563705 one_to_one +MONDO:0010581 diabetes insipidus, nephrogenic, X-linked http http://identifiers.org/hgnc/897 disease_has_basis_in_dysfunction_of MONDO:0010582 diabetes insipidus, neurohypophyseal type MONDO MONDO:0007450 subclass MONDO:0010582 diabetes insipidus, neurohypophyseal type OMIM OMIM:304900 one_to_one MONDO:0010582 diabetes insipidus, neurohypophyseal type UMLS UMLS:CN074293 one_to_one @@ -62095,12 +63808,14 @@ MONDO:0010584 dyskeratosis congenita, X-linked HP HP:0001417 has_modifier MONDO:0010584 dyskeratosis congenita, X-linked MONDO MONDO:0000425,MONDO:0015780 subclass MONDO:0010584 dyskeratosis congenita, X-linked NCIT NCIT:C126352 one_to_one MONDO:0010584 dyskeratosis congenita, X-linked OMIM OMIM:305000 one_to_one +MONDO:0010584 dyskeratosis congenita, X-linked http http://identifiers.org/hgnc/2890 disease_has_basis_in_dysfunction_of MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia GARD GARD:0010427 one_to_one MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia HP HP:0001417 has_modifier MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia ICD10 ICD10:Q82.4 inexact MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia MONDO MONDO:0000425,MONDO:0016535 subclass MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia OMIM OMIM:305100 one_to_one MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia Orphanet Orphanet:181 one_to_one +MONDO:0010585 X-linked hypohidrotic ectodermal dysplasia http http://identifiers.org/hgnc/3157 disease_has_basis_in_dysfunction_of MONDO:0010586 X-linked Ehlers-Danlos syndrome HP HP:0001417 has_modifier MONDO:0010586 X-linked Ehlers-Danlos syndrome ICD10 ICD10:Q79.6 inexact MONDO:0010586 X-linked Ehlers-Danlos syndrome MESH MESH:C536197 one_to_one @@ -62119,6 +63834,7 @@ MONDO:0010588 exudative vitreoretinopathy 2, X-linked MESH MESH:C564428 one_to_o MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO MONDO:0000425,MONDO:0019516,MONDO:0024237 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 MONDO:0010589 Aarskog-Scott syndrome, X-linked GARD GARD:0004775 one_to_one MONDO:0010589 Aarskog-Scott syndrome, X-linked ICD10 ICD10:Q87.1 inexact MONDO:0010589 Aarskog-Scott syndrome, X-linked ICD9 ICD9:759.89 inexact @@ -62130,9 +63846,11 @@ MONDO:0010589 Aarskog-Scott syndrome, X-linked NCIT NCIT:C129720 one_to_one MONDO:0010589 Aarskog-Scott syndrome, X-linked OMIM OMIM:305400 one_to_one MONDO:0010589 Aarskog-Scott syndrome, X-linked Orphanet Orphanet:915 one_to_one MONDO:0010589 Aarskog-Scott syndrome, X-linked SCTID SCTID:14921002 one_to_one +MONDO:0010589 Aarskog-Scott syndrome, X-linked http http://identifiers.org/hgnc/3663 disease_has_basis_in_dysfunction_of MONDO:0010590 FG syndrome 1 MONDO MONDO:0002010,MONDO:0015159,MONDO:0015246,MONDO:0043005,MONDO:0100000 subclass MONDO:0010590 FG syndrome 1 OMIM OMIM:305450 one_to_one MONDO:0010590 FG syndrome 1 Orphanet Orphanet:93932 one_to_one +MONDO:0010590 FG syndrome 1 http http://identifiers.org/hgnc/11957 disease_has_basis_in_dysfunction_of MONDO:0010591 fingerprint body myopathy GARD GARD:0012720 one_to_one MONDO:0010591 fingerprint body myopathy ICD10 ICD10:G71.2 inexact MONDO:0010591 fingerprint body myopathy MESH MESH:C564425 one_to_one @@ -62151,6 +63869,7 @@ MONDO:0010592 focal dermal hypoplasia OMIM OMIM:305600 one_to_one MONDO:0010592 focal dermal hypoplasia Orphanet Orphanet:2092 one_to_one MONDO:0010592 focal dermal hypoplasia SCTID SCTID:205573006 one_to_one MONDO:0010592 focal dermal hypoplasia UMLS UMLS:C0016395 one_to_one +MONDO:0010592 focal dermal hypoplasia http http://identifiers.org/hgnc/17652 disease_has_basis_in_dysfunction_of MONDO:0010594 inherited genitourinary tract anomalies (disease) HP HP:0000119 one_to_one MONDO:0010594 inherited genitourinary tract anomalies (disease) MESH MESH:C564424 one_to_one MONDO:0010594 inherited genitourinary tract anomalies (disease) MONDO MONDO:0003847,MONDO:0021145 subclass @@ -62176,6 +63895,7 @@ 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 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 MONDO:0010599 granulomas, congenital cerebral MESH MESH:C537294 one_to_one MONDO:0010599 granulomas, congenital cerebral MONDO MONDO:0003847 subclass @@ -62183,6 +63903,7 @@ MONDO:0010599 granulomas, congenital cerebral OMIM OMIM:306300 one_to_one MONDO:0010599 granulomas, congenital cerebral UMLS UMLS:C1844406 one_to_one MONDO:0010600 granulomatous disease, chronic, X-linked MONDO MONDO:0018305 subclass MONDO:0010600 granulomatous disease, chronic, X-linked OMIM OMIM:306400 one_to_one +MONDO:0010600 granulomatous disease, chronic, X-linked http http://identifiers.org/hgnc/2578 disease_has_basis_in_dysfunction_of MONDO:0010601 gynecomastia, familial MESH MESH:C564416 one_to_one MONDO:0010601 gynecomastia, familial MONDO MONDO:0021152 has_modifier MONDO:0010601 gynecomastia, familial MONDO MONDO:0001571,MONDO:0003847,MONDO:0015511,MONDO:0015513,MONDO:0015960 subclass @@ -62197,13 +63918,14 @@ MONDO:0010602 hemophilia A HP HP:0003125 disease_has_feature MONDO:0010602 hemophilia A ICD10 ICD10:D66 inexact MONDO:0010602 hemophilia A ICD9 ICD9:286.0 one_to_one MONDO:0010602 hemophilia A MESH MESH:D006467 one_to_one -MONDO:0010602 hemophilia A MONDO MONDO:0000425,MONDO:0002243,MONDO:0018660,MONDO:0021181,MONDO:0021196 subclass +MONDO:0010602 hemophilia A MONDO MONDO:0000425,MONDO:0002243,MONDO:0018660,MONDO:0021181,MONDO:0044976 subclass MONDO:0010602 hemophilia A MedDRA MedDRA:10016080 one_to_one MONDO:0010602 hemophilia A NCIT NCIT:C27146 one_to_one MONDO:0010602 hemophilia A OMIM OMIM:134500,OMIM:306700 inexact MONDO:0010602 hemophilia A Orphanet Orphanet:98878 one_to_one MONDO:0010602 hemophilia A SCTID SCTID:234440005 one_to_one MONDO:0010602 hemophilia A UMLS UMLS:C0019069,UMLS:CN239112 inexact +MONDO:0010602 hemophilia A http http://identifiers.org/hgnc/3546 disease_has_basis_in_dysfunction_of MONDO:0010603 hemophilia A with vascular abnormality MESH MESH:C564415 one_to_one MONDO:0010603 hemophilia A with vascular abnormality MONDO MONDO:0010602 subclass MONDO:0010603 hemophilia A with vascular abnormality OMIM OMIM:306800 one_to_one @@ -62220,6 +63942,7 @@ MONDO:0010604 hemophilia B OMIM OMIM:306900 one_to_one MONDO:0010604 hemophilia B Orphanet Orphanet:98879 one_to_one MONDO:0010604 hemophilia B SCTID SCTID:41788008 one_to_one MONDO:0010604 hemophilia B UMLS UMLS:C0008533 one_to_one +MONDO:0010604 hemophilia B http http://identifiers.org/hgnc/3551 disease_has_basis_in_dysfunction_of MONDO:0010605 hemopoietic proliferation MONDO MONDO:0003847 subclass MONDO:0010605 hemopoietic proliferation OMIM OMIM:306930 one_to_one MONDO:0010606 hernia, anterior diaphragmatic MESH MESH:C564413 one_to_one @@ -62230,6 +63953,7 @@ MONDO:0010607 heterotaxy, visceral, 1, X-linked MESH MESH:C538116 one_to_one MONDO:0010607 heterotaxy, visceral, 1, X-linked MONDO MONDO:0018677 subclass MONDO:0010607 heterotaxy, visceral, 1, X-linked OMIM OMIM:306955 one_to_one MONDO:0010607 heterotaxy, visceral, 1, X-linked UMLS UMLS:C1844020 one_to_one +MONDO:0010607 heterotaxy, visceral, 1, X-linked http http://identifiers.org/hgnc/12874 disease_has_basis_in_dysfunction_of MONDO:0010608 Hhhh syndrome MESH MESH:C564411 one_to_one MONDO:0010608 Hhhh syndrome MONDO MONDO:0003847 subclass MONDO:0010608 Hhhh syndrome OMIM OMIM:306960 one_to_one @@ -62247,6 +63971,7 @@ MONDO:0010611 hydrocephalus with stenosis of the aqueduct of Sylvius MONDO MONDO MONDO:0010611 hydrocephalus with stenosis of the aqueduct of Sylvius OMIM OMIM:307000 one_to_one MONDO:0010611 hydrocephalus with stenosis of the aqueduct of Sylvius Orphanet Orphanet:2182 one_to_one MONDO:0010611 hydrocephalus with stenosis of the aqueduct of Sylvius SCTID SCTID:71779008 one_to_one +MONDO:0010611 hydrocephalus with stenosis of the aqueduct of Sylvius http http://identifiers.org/hgnc/6470 disease_has_basis_in_dysfunction_of MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome GARD GARD:0001200 one_to_one MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome ICD10 ICD10:Q04.3 inexact MONDO:0010612 hydrocephaly-cerebellar agenesis syndrome MESH MESH:C564407 one_to_one @@ -62258,6 +63983,7 @@ MONDO:0010613 glycerol kinase deficiency DOID DOID:0060363 one_to_one MONDO:0010613 glycerol kinase deficiency MONDO MONDO:0019227 subclass MONDO:0010613 glycerol kinase deficiency OMIM OMIM:307030 one_to_one MONDO:0010613 glycerol kinase deficiency Orphanet Orphanet:308993 one_to_one +MONDO:0010613 glycerol kinase deficiency http http://identifiers.org/hgnc/4289 disease_has_basis_in_dysfunction_of MONDO:0010614 X-linked congenital generalized hypertrichosis GARD GARD:0002863 one_to_one MONDO:0010614 X-linked congenital generalized hypertrichosis ICD10 ICD10:Q84.2 inexact MONDO:0010614 X-linked congenital generalized hypertrichosis MESH MESH:C538388 one_to_one @@ -62272,6 +63998,7 @@ MONDO:0010615 isolated growth hormone deficiency type III MONDO MONDO:0000050 su MONDO:0010615 isolated growth hormone deficiency type III OMIM OMIM:307200 one_to_one MONDO:0010615 isolated growth hormone deficiency type III Orphanet Orphanet:231692 one_to_one MONDO:0010615 isolated growth hormone deficiency type III SCTID SCTID:234533006 one_to_one +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 @@ -62294,6 +64021,7 @@ MONDO:0010619 X-linked hypophosphatemic rickets NCIT NCIT:C123265 one_to_one MONDO:0010619 X-linked hypophosphatemic rickets OMIM OMIM:307800 one_to_one MONDO:0010619 X-linked hypophosphatemic rickets Orphanet Orphanet:89936 one_to_one MONDO:0010619 X-linked hypophosphatemic rickets SCTID SCTID:82236004 one_to_one +MONDO:0010619 X-linked hypophosphatemic rickets http http://identifiers.org/hgnc/8918 disease_has_basis_in_dysfunction_of MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion MESH MESH:C564405 one_to_one MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion MONDO MONDO:0009071 subclass MONDO:0010620 hypouricemia, familial renal, due to tubular hypersecretion OMIM OMIM:307830 one_to_one @@ -62307,6 +64035,7 @@ MONDO:0010621 child syndrome OMIM OMIM:308050 one_to_one MONDO:0010621 child syndrome Orphanet Orphanet:139 one_to_one MONDO:0010621 child syndrome SCTID SCTID:17608003 one_to_one MONDO:0010621 child syndrome UMLS UMLS:C0265267 one_to_one +MONDO:0010621 child syndrome http http://identifiers.org/hgnc/13398 disease_has_basis_in_dysfunction_of MONDO:0010622 recessive X-linked ichthyosis DOID DOID:1700 one_to_one MONDO:0010622 recessive X-linked ichthyosis GARD GARD:0007904 one_to_one MONDO:0010622 recessive X-linked ichthyosis HP HP:0001417 has_modifier @@ -62318,10 +64047,12 @@ MONDO:0010622 recessive X-linked ichthyosis OMIM OMIM:308100 one_to_one MONDO:0010622 recessive X-linked ichthyosis Orphanet Orphanet:461 one_to_one MONDO:0010622 recessive X-linked ichthyosis SCTID SCTID:3944006 one_to_one MONDO:0010622 recessive X-linked ichthyosis UMLS UMLS:C0079588 one_to_one +MONDO:0010622 recessive X-linked ichthyosis http http://identifiers.org/hgnc/11425 disease_has_basis_in_dysfunction_of MONDO:0010623 ichthyosis and male hypogonadism GARD GARD:0009612 one_to_one MONDO:0010623 ichthyosis and male hypogonadism ICD9 ICD9:759.89 inexact MONDO:0010623 ichthyosis and male hypogonadism MONDO MONDO:0003847 subclass MONDO:0010623 ichthyosis and male hypogonadism OMIM OMIM:308200 one_to_one +MONDO:0010623 ichthyosis and male hypogonadism Orphanet Orphanet:431 one_to_one MONDO:0010623 ichthyosis and male hypogonadism SCTID SCTID:2355008 one_to_one MONDO:0010623 ichthyosis and male hypogonadism UMLS UMLS:C1839989 one_to_one MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome GARD GARD:0002952 one_to_one @@ -62330,6 +64061,7 @@ MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome MONDO MONDO: MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome OMIM OMIM:308205 one_to_one MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome Orphanet Orphanet:2273 one_to_one MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome UMLS UMLS:C1839988 one_to_one +MONDO:0010624 ichthyosis follicularis-alopecia-photophobia syndrome http http://identifiers.org/hgnc/15455 disease_has_basis_in_dysfunction_of MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein MESH MESH:C564120 one_to_one MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein MONDO MONDO:0003778,MONDO:0003847 subclass MONDO:0010625 immunodeficiency, X-linked, with deficiency of 115,000 Dalton surface glycoprotein OMIM OMIM:308220 one_to_one @@ -62345,6 +64077,7 @@ MONDO:0010626 X-linked hyper-IgM syndrome Orphanet Orphanet:101088 one_to_one MONDO:0010626 X-linked hyper-IgM syndrome SCTID SCTID:403835002 one_to_one MONDO:0010626 X-linked hyper-IgM syndrome UMLS UMLS:C0398689 one_to_one MONDO:0010626 X-linked hyper-IgM syndrome Wikidata Wikidata:Q3508611 one_to_one +MONDO:0010626 X-linked hyper-IgM syndrome http http://identifiers.org/hgnc/11935 disease_has_basis_in_dysfunction_of MONDO:0010627 X-linked lymphoproliferative syndrome DOID DOID:0060705 one_to_one MONDO:0010627 X-linked lymphoproliferative syndrome GARD GARD:0007906 one_to_one MONDO:0010627 X-linked lymphoproliferative syndrome HP HP:0001417 has_modifier @@ -62367,14 +64100,16 @@ 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: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:0019287,MONDO:0019288,MONDO:0020014,MONDO:0020119,MONDO:0020174,MONDO:0020233,MONDO:0020247,MONDO:0020276,MONDO:0021211 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 MONDO:0010631 Bloch-Sulzberger syndrome Wikipedia Wikipedia:Incongenita_pigmenti one_to_one +MONDO:0010631 Bloch-Sulzberger syndrome http http://identifiers.org/hgnc/5961 disease_has_basis_in_dysfunction_of MONDO:0010632 epileptic encephalopathy, early infantile, 1 MONDO MONDO:0016021,MONDO:0018097 subclass MONDO:0010632 epileptic encephalopathy, early infantile, 1 OMIM OMIM:308350 one_to_one MONDO:0010632 epileptic encephalopathy, early infantile, 1 UMLS UMLS:C3463992 one_to_one +MONDO:0010632 epileptic encephalopathy, early infantile, 1 http http://identifiers.org/hgnc/18060 disease_has_basis_in_dysfunction_of MONDO:0010633 iris hypoplasia with glaucoma GARD GARD:0009171 one_to_one MONDO:0010633 iris hypoplasia with glaucoma MESH MESH:C535538 one_to_one MONDO:0010633 iris hypoplasia with glaucoma MONDO MONDO:0005283,MONDO:0018174 subclass @@ -62387,10 +64122,11 @@ MONDO:0010634 jaundice, familial obstructive, of infancy UMLS UMLS:C1839927 one_ MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia DOID DOID:0090094 one_to_one MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia GARD GARD:0003071 one_to_one MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia ICD10 ICD10:E23.0 inexact -MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO MONDO:0018800 subclass +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia MONDO MONDO:0018555,MONDO:0018800 subclass MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia NCIT NCIT:C75480 one_to_one MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia OMIM OMIM:308700 one_to_one MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia UMLS UMLS:C1563719 one_to_one +MONDO:0010635 hypogonadotropic hypogonadism 1 with or without anosmia http http://identifiers.org/hgnc/6211 disease_has_basis_in_dysfunction_of MONDO:0010636 Kallmann syndrome with spastic paraplegia MESH MESH:C536873 one_to_one MONDO:0010636 Kallmann syndrome with spastic paraplegia MONDO MONDO:0003847 subclass MONDO:0010636 Kallmann syndrome with spastic paraplegia OMIM OMIM:308750 one_to_one @@ -62399,6 +64135,7 @@ MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked MESH MESH:C53 MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked MONDO MONDO:0000136 subclass MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked OMIM OMIM:308800 one_to_one MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked UMLS UMLS:C3887525 one_to_one +MONDO:0010637 keratosis follicularis spinulosa decalvans, X-linked http http://identifiers.org/hgnc/10540,http://identifiers.org/hgnc/15455 disease_has_basis_in_dysfunction_of MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome GARD GARD:0003099 one_to_one MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome ICD10 ICD10:Q87.1 inexact MONDO:0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome MESH MESH:C536158 one_to_one @@ -62436,6 +64173,7 @@ MONDO:0010643 acute leukemia (disease) SCTID SCTID:91855006 one_to_one MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis MONDO MONDO:0003634 subclass MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis OMIM OMIM:308990 one_to_one MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis UMLS UMLS:C1839874 one_to_one +MONDO:0010644 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis http http://identifiers.org/hgnc/2023 disease_has_basis_in_dysfunction_of MONDO:0010645 oculocerebrorenal syndrome DOID DOID:1056 one_to_one MONDO:0010645 oculocerebrorenal syndrome GARD GARD:0003295 one_to_one MONDO:0010645 oculocerebrorenal syndrome ICD10 ICD10:E72.0,ICD10:E72.03 inexact @@ -62448,6 +64186,7 @@ MONDO:0010645 oculocerebrorenal syndrome OMIM OMIM:309000 one_to_one MONDO:0010645 oculocerebrorenal syndrome Orphanet Orphanet:534 one_to_one 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 OMIM OMIM:309100 one_to_one @@ -62455,6 +64194,7 @@ 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 MONDO:0010647 spermatogenic failure, X-linked, 2 OMIM OMIM:309120 one_to_one 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 @@ -62473,18 +64213,20 @@ MONDO:0010650 Melnick-Needles syndrome OMIM OMIM:309350 one_to_one MONDO:0010650 Melnick-Needles syndrome Orphanet Orphanet:2484 one_to_one MONDO:0010650 Melnick-Needles syndrome SCTID SCTID:13449007 one_to_one MONDO:0010650 Melnick-Needles syndrome UMLS UMLS:C0025237 one_to_one +MONDO:0010650 Melnick-Needles syndrome http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010651 Menkes disease DOID DOID:1838 one_to_one MONDO:0010651 Menkes disease GARD GARD:0001521 one_to_one MONDO:0010651 Menkes disease ICD10 ICD10:E83.0 inexact MONDO:0010651 Menkes disease ICD9 ICD9:759.89 inexact MONDO:0010651 Menkes disease MESH MESH:D007706 one_to_one -MONDO:0010651 Menkes disease MONDO MONDO:0004689,MONDO:0015920,MONDO:0015955,MONDO:0016400,MONDO:0017762,MONDO:0019268,MONDO:0019282,MONDO:0020189 subclass +MONDO:0010651 Menkes disease MONDO MONDO:0004689,MONDO:0015653,MONDO:0015920,MONDO:0016400,MONDO:0017762,MONDO:0019268,MONDO:0019282,MONDO:0020189 subclass MONDO:0010651 Menkes disease MedDRA MedDRA:10027294 one_to_one MONDO:0010651 Menkes disease NCIT NCIT:C75486 one_to_one MONDO:0010651 Menkes disease OMIM OMIM:309400 one_to_one MONDO:0010651 Menkes disease Orphanet Orphanet:565 one_to_one MONDO:0010651 Menkes disease SCTID SCTID:59178007 one_to_one MONDO:0010651 Menkes disease UMLS UMLS:C0022716 one_to_one +MONDO:0010651 Menkes disease http http://identifiers.org/hgnc/869 disease_has_basis_in_dysfunction_of MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome GARD GARD:0005238 one_to_one MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010652 X-linked intellectual disability-seizures-psoriasis syndrome MESH MESH:C536978 one_to_one @@ -62503,11 +64245,13 @@ MONDO:0010653 Renpenning syndrome OMIM OMIM:309500 one_to_one MONDO:0010653 Renpenning syndrome Orphanet Orphanet:3242 one_to_one MONDO:0010653 Renpenning syndrome SCTID SCTID:699669001 one_to_one MONDO:0010653 Renpenning syndrome UMLS UMLS:C0796135 one_to_one +MONDO:0010653 Renpenning syndrome http http://identifiers.org/hgnc/9330 disease_has_basis_in_dysfunction_of MONDO:0010654 Partington syndrome DOID DOID:14744 one_to_one MONDO:0010654 Partington syndrome GARD GARD:0004235 one_to_one MONDO:0010654 Partington syndrome MONDO MONDO:0010523,MONDO:0015921,MONDO:0020119 subclass MONDO:0010654 Partington syndrome OMIM OMIM:309510 one_to_one MONDO:0010654 Partington syndrome Orphanet Orphanet:94083 one_to_one +MONDO:0010654 Partington syndrome http http://identifiers.org/hgnc/18060 disease_has_basis_in_dysfunction_of MONDO:0010655 X-linked intellectual disability with marfanoid habitus GARD GARD:0003307 one_to_one MONDO:0010655 X-linked intellectual disability with marfanoid habitus ICD10 ICD10:Q87.8 inexact MONDO:0010655 X-linked intellectual disability with marfanoid habitus MESH MESH:C537724 one_to_one @@ -62520,6 +64264,7 @@ MONDO:0010656 intellectual disability, X-linked 1 MESH MESH:C567906 one_to_one MONDO:0010656 intellectual disability, X-linked 1 MONDO MONDO:0019181 subclass MONDO:0010656 intellectual disability, X-linked 1 NCIT NCIT:C133729 one_to_one MONDO:0010656 intellectual disability, X-linked 1 OMIM OMIM:309530 one_to_one +MONDO:0010656 intellectual disability, X-linked 1 http http://identifiers.org/hgnc/29059 disease_has_basis_in_dysfunction_of MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX GARD GARD:0013137 one_to_one MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX ICD10 ICD10:E71.1 inexact MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MESH MESH:C563136 one_to_one @@ -62527,6 +64272,7 @@ MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX MONDO MONDO: MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX OMIM OMIM:309541 one_to_one MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX Orphanet Orphanet:369962 one_to_one MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX UMLS UMLS:C0796208 one_to_one +MONDO:0010657 methylmalonic acidemia with homocystinuria, type cblX http http://identifiers.org/hgnc/4839 disease_has_basis_in_dysfunction_of MONDO:0010658 syndromic X-linked intellectual disability 12 DOID DOID:0060804 one_to_one MONDO:0010658 syndromic X-linked intellectual disability 12 ICD10 ICD10:Q87.8 inexact MONDO:0010658 syndromic X-linked intellectual disability 12 MESH MESH:C564106 one_to_one @@ -62541,10 +64287,12 @@ MONDO:0010659 FRAXE intellectual disability OMIM OMIM:309548 one_to_one MONDO:0010659 FRAXE intellectual disability Orphanet Orphanet:100973 one_to_one MONDO:0010659 FRAXE intellectual disability SCTID SCTID:716709002 one_to_one MONDO:0010659 FRAXE intellectual disability UMLS UMLS:C0751157 one_to_one +MONDO:0010659 FRAXE intellectual disability http http://identifiers.org/hgnc/3776 disease_has_basis_in_dysfunction_of MONDO:0010660 intellectual disability, X-linked 9 MESH MESH:C563137 one_to_one MONDO:0010660 intellectual disability, X-linked 9 MONDO MONDO:0019181 subclass MONDO:0010660 intellectual disability, X-linked 9 OMIM OMIM:309549 one_to_one MONDO:0010660 intellectual disability, X-linked 9 UMLS UMLS:C0796215 one_to_one +MONDO:0010660 intellectual disability, X-linked 9 http http://identifiers.org/hgnc/13254 disease_has_basis_in_dysfunction_of MONDO:0010661 severe X-linked intellectual disability, Gustavson type GARD GARD:0005611 one_to_one MONDO:0010661 severe X-linked intellectual disability, Gustavson type ICD10 ICD10:F72.9 one_to_one MONDO:0010661 severe X-linked intellectual disability, Gustavson type MESH MESH:C536759 one_to_one @@ -62565,6 +64313,7 @@ MONDO:0010663 X-linked intellectual disability-hypotonic face syndrome MONDO MON MONDO:0010663 X-linked intellectual disability-hypotonic face syndrome OMIM OMIM:309580 one_to_one MONDO:0010663 X-linked intellectual disability-hypotonic face syndrome Orphanet Orphanet:73220 one_to_one MONDO:0010663 X-linked intellectual disability-hypotonic face syndrome UMLS UMLS:CN205653 one_to_one +MONDO:0010663 X-linked intellectual disability-hypotonic face syndrome http http://identifiers.org/hgnc/886 disease_has_basis_in_dysfunction_of MONDO:0010664 syndromic X-linked intellectual disability Snyder type DOID DOID:0060802 one_to_one MONDO:0010664 syndromic X-linked intellectual disability Snyder type GARD GARD:0005615 one_to_one MONDO:0010664 syndromic X-linked intellectual disability Snyder type ICD10 ICD10:Q87.8 inexact @@ -62575,6 +64324,7 @@ MONDO:0010664 syndromic X-linked intellectual disability Snyder type OMIM OMIM:3 MONDO:0010664 syndromic X-linked intellectual disability Snyder type Orphanet Orphanet:3063 one_to_one MONDO:0010664 syndromic X-linked intellectual disability Snyder type SCTID SCTID:702416008 one_to_one MONDO:0010664 syndromic X-linked intellectual disability Snyder type UMLS UMLS:C0796160 one_to_one +MONDO:0010664 syndromic X-linked intellectual disability Snyder type http http://identifiers.org/hgnc/11123 disease_has_basis_in_dysfunction_of MONDO:0010665 Wilson-Turner syndrome DOID DOID:0060814 one_to_one MONDO:0010665 Wilson-Turner syndrome GARD GARD:0005579 one_to_one MONDO:0010665 Wilson-Turner syndrome MESH MESH:C536708 one_to_one @@ -62582,6 +64332,7 @@ MONDO:0010665 Wilson-Turner syndrome MONDO MONDO:0016565,MONDO:0019052,MONDO:002 MONDO:0010665 Wilson-Turner syndrome OMIM OMIM:309585 one_to_one MONDO:0010665 Wilson-Turner syndrome Orphanet Orphanet:3459 one_to_one MONDO:0010665 Wilson-Turner syndrome SCTID SCTID:719834005 one_to_one +MONDO:0010665 Wilson-Turner syndrome http http://identifiers.org/hgnc/25726 disease_has_basis_in_dysfunction_of MONDO:0010666 Miles-Carpenter syndrome DOID DOID:0060815 one_to_one MONDO:0010666 Miles-Carpenter syndrome GARD GARD:0009984 one_to_one MONDO:0010666 Miles-Carpenter syndrome ICD10 ICD10:Q87.8 inexact @@ -62614,6 +64365,7 @@ MONDO:0010669 syndactyly type 8 OMIM OMIM:309630 one_to_one MONDO:0010669 syndactyly type 8 Orphanet Orphanet:2498 one_to_one MONDO:0010669 syndactyly type 8 SCTID SCTID:715442006 one_to_one MONDO:0010669 syndactyly type 8 UMLS UMLS:C1839728 one_to_one +MONDO:0010669 syndactyly type 8 http http://identifiers.org/hgnc/3672 disease_has_basis_in_dysfunction_of MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome MESH MESH:C564099 one_to_one MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome MONDO MONDO:0020119 subclass MONDO:0010670 X-linked intellectual disability-spastic quadriparesis syndrome OMIM OMIM:309640 one_to_one @@ -62624,6 +64376,7 @@ MONDO:0010671 microphthalmia, syndromic 1 MESH MESH:C537464 one_to_one MONDO:0010671 microphthalmia, syndromic 1 MONDO MONDO:0018924 subclass MONDO:0010671 microphthalmia, syndromic 1 OMIM OMIM:309800 one_to_one MONDO:0010671 microphthalmia, syndromic 1 SCTID SCTID:438504004 one_to_one +MONDO:0010671 microphthalmia, syndromic 1 http http://identifiers.org/hgnc/18704,http://identifiers.org/hgnc/20893 disease_has_basis_in_dysfunction_of MONDO:0010672 microphthalmia with linear skin defects syndrome DC DC:0000705 one_to_one MONDO:0010672 microphthalmia with linear skin defects syndrome GARD GARD:0003659 one_to_one MONDO:0010672 microphthalmia with linear skin defects syndrome ICD10 ICD10:Q11.2 inexact @@ -62641,13 +64394,14 @@ MONDO:0010674 mucopolysaccharidosis type 2 GARD GARD:0006675 one_to_one MONDO:0010674 mucopolysaccharidosis type 2 GO GO:0004423 disease_has_basis_in_disruption_of MONDO:0010674 mucopolysaccharidosis type 2 ICD10 ICD10:E76.1 inexact MONDO:0010674 mucopolysaccharidosis type 2 MESH MESH:D016532 one_to_one -MONDO:0010674 mucopolysaccharidosis type 2 MONDO MONDO:0015920,MONDO:0016326,MONDO:0016329,MONDO:0019249,MONDO:0019302,MONDO:0019706,MONDO:0020169,MONDO:0021196,MONDO:0024573 subclass +MONDO:0010674 mucopolysaccharidosis type 2 MONDO MONDO:0015920,MONDO:0016326,MONDO:0016329,MONDO:0019249,MONDO:0019302,MONDO:0019706,MONDO:0020169,MONDO:0044976 subclass MONDO:0010674 mucopolysaccharidosis type 2 MedDRA MedDRA:10056889 one_to_one MONDO:0010674 mucopolysaccharidosis type 2 NCIT NCIT:C61260 one_to_one MONDO:0010674 mucopolysaccharidosis type 2 OMIM OMIM:309900 one_to_one MONDO:0010674 mucopolysaccharidosis type 2 Orphanet Orphanet:580 one_to_one MONDO:0010674 mucopolysaccharidosis type 2 SCTID SCTID:70737009 one_to_one MONDO:0010674 mucopolysaccharidosis type 2 UMLS UMLS:C0026705 one_to_one +MONDO:0010674 mucopolysaccharidosis type 2 http http://identifiers.org/hgnc/5389 disease_has_basis_in_dysfunction_of MONDO:0010675 muscular dystrophy, cardiac type MESH MESH:C563247 one_to_one MONDO:0010675 muscular dystrophy, cardiac type MONDO MONDO:0020121 subclass MONDO:0010675 muscular dystrophy, cardiac type OMIM OMIM:309930 one_to_one @@ -62668,7 +64422,7 @@ MONDO:0010679 Duchenne muscular dystrophy DOID DOID:11723 one_to_one MONDO:0010679 Duchenne muscular dystrophy GARD GARD:0006291 one_to_one MONDO:0010679 Duchenne muscular dystrophy ICD10 ICD10:G71.0 inexact MONDO:0010679 Duchenne muscular dystrophy MESH MESH:D020388 one_to_one -MONDO:0010679 Duchenne muscular dystrophy MONDO MONDO:0016147,MONDO:0016899,MONDO:0020259 subclass +MONDO:0010679 Duchenne muscular dystrophy MONDO MONDO:0010542,MONDO:0016899,MONDO:0020259 subclass MONDO:0010679 Duchenne muscular dystrophy MedDRA MedDRA:10013801 one_to_one MONDO:0010679 Duchenne muscular dystrophy NCIT NCIT:C75482 one_to_one MONDO:0010679 Duchenne muscular dystrophy OMIM OMIM:310200 one_to_one @@ -62682,6 +64436,7 @@ MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy MONDO MONDO:0000425,MON MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy OMIM OMIM:310300 one_to_one MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy Orphanet Orphanet:98863 one_to_one MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy UMLS UMLS:C0751337,UMLS:CN069573 inexact +MONDO:0010680 X-linked Emery-Dreifuss muscular dystrophy http http://identifiers.org/hgnc/3331 disease_has_basis_in_dysfunction_of MONDO:0010681 Myelolymphatic insufficiency MONDO MONDO:0003847 subclass MONDO:0010681 Myelolymphatic insufficiency OMIM OMIM:310350 one_to_one MONDO:0010681 Myelolymphatic insufficiency UMLS UMLS:C1839650 one_to_one @@ -62696,6 +64451,7 @@ MONDO:0010683 X-linked centronuclear myopathy OMIM OMIM:310400 one_to_one MONDO:0010683 X-linked centronuclear myopathy Orphanet Orphanet:596 one_to_one MONDO:0010683 X-linked centronuclear myopathy SCTID SCTID:46804001 one_to_one MONDO:0010683 X-linked centronuclear myopathy UMLS UMLS:C0410203 one_to_one +MONDO:0010683 X-linked centronuclear myopathy http http://identifiers.org/hgnc/7448 disease_has_basis_in_dysfunction_of MONDO:0010684 X-linked myopathy with excessive autophagy DOID DOID:0050760 one_to_one MONDO:0010684 X-linked myopathy with excessive autophagy GARD GARD:0003892 one_to_one MONDO:0010684 X-linked myopathy with excessive autophagy ICD10 ICD10:G71.8 inexact @@ -62705,6 +64461,7 @@ MONDO:0010684 X-linked myopathy with excessive autophagy OMIM OMIM:310440 one_to MONDO:0010684 X-linked myopathy with excessive autophagy Orphanet Orphanet:25980 one_to_one MONDO:0010684 X-linked myopathy with excessive autophagy SCTID SCTID:719815005 one_to_one 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 OMIM OMIM:310460 one_to_one @@ -62717,10 +64474,12 @@ MONDO:0010686 N syndrome MONDO MONDO:0015159,MONDO:0015356,MONDO:0019589,MONDO:0 MONDO:0010686 N syndrome OMIM OMIM:310465 one_to_one MONDO:0010686 N syndrome Orphanet Orphanet:2608 one_to_one MONDO:0010686 N syndrome UMLS UMLS:C2936859 one_to_one +MONDO:0010686 N syndrome http http://identifiers.org/hgnc/9173 disease_has_basis_in_dysfunction_of MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure MESH MESH:C562901 one_to_one MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure MONDO MONDO:0008171 subclass MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure OMIM OMIM:310468 one_to_one MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure SCTID SCTID:236713006 one_to_one +MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure http http://identifiers.org/hgnc/2023 disease_has_basis_in_dysfunction_of MONDO:0010688 hereditary sensory neuropathy X-linked DOID DOID:0070159 one_to_one MONDO:0010688 hereditary sensory neuropathy X-linked MESH MESH:C564090 one_to_one MONDO:0010688 hereditary sensory neuropathy X-linked MONDO MONDO:0015364 subclass @@ -62732,10 +64491,11 @@ MONDO:0010689 Charcot-Marie-tooth disease X-linked recessive 4 ICD10 ICD10:G60.0 MONDO:0010689 Charcot-Marie-tooth disease X-linked recessive 4 MONDO MONDO:0018994 subclass MONDO:0010689 Charcot-Marie-tooth disease X-linked recessive 4 OMIM OMIM:310490 one_to_one MONDO:0010689 Charcot-Marie-tooth disease X-linked recessive 4 Orphanet Orphanet:101078 one_to_one +MONDO:0010689 Charcot-Marie-tooth disease X-linked recessive 4 http http://identifiers.org/hgnc/8768 disease_has_basis_in_dysfunction_of MONDO:0010690 congenital stationary night blindness 1A DOID DOID:0110870 one_to_one MONDO:0010690 congenital stationary night blindness 1A MONDO MONDO:0016293,MONDO:0044749 subclass -MONDO:0010690 congenital stationary night blindness 1A NCBIGene NCBIGene:60506 disease_has_basis_in_dysfunction_of MONDO:0010690 congenital stationary night blindness 1A OMIM OMIM:310500 one_to_one +MONDO:0010690 congenital stationary night blindness 1A http http://identifiers.org/hgnc/8082 disease_has_basis_in_dysfunction_of MONDO:0010691 Norrie disease DOID DOID:0060844 one_to_one MONDO:0010691 Norrie disease GARD GARD:0007224 one_to_one MONDO:0010691 Norrie disease ICD10 ICD10:H35.5 inexact @@ -62747,12 +64507,14 @@ MONDO:0010691 Norrie disease NCIT NCIT:C118634 one_to_one MONDO:0010691 Norrie disease OMIM OMIM:310600 one_to_one MONDO:0010691 Norrie disease Orphanet Orphanet:649 one_to_one MONDO:0010691 Norrie disease SCTID SCTID:15228007 one_to_one +MONDO:0010691 Norrie disease http http://identifiers.org/hgnc/7678 disease_has_basis_in_dysfunction_of MONDO:0010692 nuclear ribonucleic acid MONDO MONDO:0003847 subclass MONDO:0010692 nuclear ribonucleic acid OMIM OMIM:310650 one_to_one MONDO:0010693 nystagmus 1, congenital, X-linked GARD GARD:0002969 one_to_one MONDO:0010693 nystagmus 1, congenital, X-linked MONDO MONDO:0005712 subclass MONDO:0010693 nystagmus 1, congenital, X-linked OMIM OMIM:310700 one_to_one 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 @@ -62782,6 +64544,7 @@ MONDO:0010699 Charcot-Marie-tooth disease X-linked recessive 5 MONDO MONDO:00153 MONDO:0010699 Charcot-Marie-tooth disease X-linked recessive 5 OMIM OMIM:311070 one_to_one MONDO:0010699 Charcot-Marie-tooth disease X-linked recessive 5 Orphanet Orphanet:99014 one_to_one MONDO:0010699 Charcot-Marie-tooth disease X-linked recessive 5 UMLS UMLS:C1839566 one_to_one +MONDO:0010699 Charcot-Marie-tooth disease X-linked recessive 5 http http://identifiers.org/hgnc/9462 disease_has_basis_in_dysfunction_of MONDO:0010700 optic atrophy--spastic paraplegia syndrome MESH MESH:C564084 one_to_one MONDO:0010700 optic atrophy--spastic paraplegia syndrome MONDO MONDO:0003847 subclass MONDO:0010700 optic atrophy--spastic paraplegia syndrome OMIM OMIM:311100 one_to_one @@ -62794,6 +64557,7 @@ MONDO:0010702 orofaciodigital syndrome I NCIT NCIT:C75481 one_to_one MONDO:0010702 orofaciodigital syndrome I OMIM OMIM:311200 one_to_one MONDO:0010702 orofaciodigital syndrome I Orphanet Orphanet:2750 one_to_one MONDO:0010702 orofaciodigital syndrome I UMLS UMLS:C1510460,UMLS:C2698658 inexact +MONDO:0010702 orofaciodigital syndrome I http http://identifiers.org/hgnc/2567 disease_has_basis_in_dysfunction_of MONDO:0010703 ornithine carbamoyltransferase deficiency DOID DOID:9271 one_to_one MONDO:0010703 ornithine carbamoyltransferase deficiency EFO EFO:0007409 one_to_one MONDO:0010703 ornithine carbamoyltransferase deficiency GARD GARD:0008391 one_to_one @@ -62806,6 +64570,7 @@ MONDO:0010703 ornithine carbamoyltransferase deficiency OMIM OMIM:311250 one_to_ MONDO:0010703 ornithine carbamoyltransferase deficiency Orphanet Orphanet:664 one_to_one MONDO:0010703 ornithine carbamoyltransferase deficiency SCTID SCTID:80908008 one_to_one MONDO:0010703 ornithine carbamoyltransferase deficiency UMLS UMLS:C0268542 one_to_one +MONDO:0010703 ornithine carbamoyltransferase deficiency http http://identifiers.org/hgnc/8512 disease_has_basis_in_dysfunction_of MONDO:0010704 otopalatodigital syndrome type 1 GARD GARD:0005121 one_to_one MONDO:0010704 otopalatodigital syndrome type 1 ICD10 ICD10:Q87.0 inexact MONDO:0010704 otopalatodigital syndrome type 1 ICD9 ICD9:759.89 inexact @@ -62814,12 +64579,14 @@ MONDO:0010704 otopalatodigital syndrome type 1 NCIT NCIT:C118845 one_to_one MONDO:0010704 otopalatodigital syndrome type 1 OMIM OMIM:311300 one_to_one MONDO:0010704 otopalatodigital syndrome type 1 Orphanet Orphanet:90650 one_to_one MONDO:0010704 otopalatodigital syndrome type 1 SCTID SCTID:54036001 one_to_one +MONDO:0010704 otopalatodigital syndrome type 1 http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010705 ouabain resistance MONDO MONDO:0003847 subclass MONDO:0010705 ouabain resistance OMIM OMIM:311350 one_to_one MONDO:0010706 premature ovarian failure 1 GARD GARD:0004480 one_to_one MONDO:0010706 premature ovarian failure 1 ICD9 ICD9:256.39 inexact -MONDO:0010706 premature ovarian failure 1 MONDO MONDO:0019852 subclass +MONDO:0010706 premature ovarian failure 1 MONDO MONDO:0005387,MONDO:0019852 subclass MONDO:0010706 premature ovarian failure 1 OMIM OMIM:311360 one_to_one +MONDO:0010706 premature ovarian failure 1 http http://identifiers.org/hgnc/3775 disease_has_basis_in_dysfunction_of MONDO:0010707 Paine syndrome GARD GARD:0009780 one_to_one MONDO:0010707 Paine syndrome MESH MESH:C538101 one_to_one MONDO:0010707 Paine syndrome MONDO MONDO:0003847 subclass @@ -62841,6 +64608,7 @@ MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome OMIM OMI MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome Orphanet Orphanet:2379 one_to_one MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome SCTID SCTID:716107009 one_to_one MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome UMLS UMLS:C0796195 one_to_one +MONDO:0010709 early-onset parkinsonism-intellectual disability syndrome http http://identifiers.org/hgnc/16499 disease_has_basis_in_dysfunction_of MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome GARD GARD:0001274 one_to_one MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010710 Pierre Robin syndrome-faciodigital anomaly syndrome MESH MESH:C535926 one_to_one @@ -62855,11 +64623,13 @@ MONDO:0010711 tarp syndrome MONDO MONDO:0015319,MONDO:0015506,MONDO:0018187 subc MONDO:0010711 tarp syndrome OMIM OMIM:311900 one_to_one MONDO:0010711 tarp syndrome Orphanet Orphanet:2886 one_to_one MONDO:0010711 tarp syndrome UMLS UMLS:C1839463 one_to_one +MONDO:0010711 tarp syndrome http http://identifiers.org/hgnc/9896 disease_has_basis_in_dysfunction_of MONDO:0010712 panhypopituitarism, X-linked GARD GARD:0006737 one_to_one MONDO:0010712 panhypopituitarism, X-linked MESH MESH:C538613 one_to_one MONDO:0010712 panhypopituitarism, X-linked MONDO MONDO:0019591 subclass MONDO:0010712 panhypopituitarism, X-linked OMIM OMIM:312000 one_to_one MONDO:0010712 panhypopituitarism, X-linked SCTID SCTID:237683004 one_to_one +MONDO:0010712 panhypopituitarism, X-linked http http://identifiers.org/hgnc/11199 disease_has_basis_in_dysfunction_of MONDO:0010713 properdin deficiency GARD GARD:0004513,GARD:0009913 inexact MONDO:0010713 properdin deficiency ICD10 ICD10:D84.1 inexact MONDO:0010713 properdin deficiency ICD9 ICD9:279.8 inexact @@ -62868,6 +64638,7 @@ MONDO:0010713 properdin deficiency MONDO MONDO:0018727 subclass MONDO:0010713 properdin deficiency OMIM OMIM:312060 one_to_one MONDO:0010713 properdin deficiency Orphanet Orphanet:2966 one_to_one MONDO:0010713 properdin deficiency SCTID SCTID:81166004 one_to_one +MONDO:0010713 properdin deficiency http http://identifiers.org/hgnc/8864 disease_has_basis_in_dysfunction_of MONDO:0010714 Pelizaeus-Merzbacher disease DOID DOID:3210 one_to_one MONDO:0010714 Pelizaeus-Merzbacher disease GARD GARD:0004265 one_to_one MONDO:0010714 Pelizaeus-Merzbacher disease ICD10 ICD10:E75.2 inexact @@ -62879,6 +64650,7 @@ MONDO:0010714 Pelizaeus-Merzbacher disease OMIM OMIM:312080 one_to_one MONDO:0010714 Pelizaeus-Merzbacher disease Orphanet Orphanet:702 one_to_one MONDO:0010714 Pelizaeus-Merzbacher disease SCTID SCTID:64855000 one_to_one MONDO:0010714 Pelizaeus-Merzbacher disease UMLS UMLS:C0205711 one_to_one +MONDO:0010714 Pelizaeus-Merzbacher disease http http://identifiers.org/hgnc/9086 disease_has_basis_in_dysfunction_of MONDO:0010715 pseudohermaphroditism, incomplete male, type 1 MESH MESH:C538435 one_to_one MONDO:0010715 pseudohermaphroditism, incomplete male, type 1 MONDO MONDO:0003847 subclass MONDO:0010715 pseudohermaphroditism, incomplete male, type 1 OMIM OMIM:312100 one_to_one @@ -62897,6 +64669,7 @@ MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency MONDO MONDO:0019169 sub MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency OMIM OMIM:312170 one_to_one MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency Orphanet Orphanet:79243 one_to_one MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency SCTID SCTID:124593001 one_to_one +MONDO:0010717 pyruvate dehydrogenase E1-alpha deficiency http http://identifiers.org/hgnc/8806 disease_has_basis_in_dysfunction_of MONDO:0010718 absent radius-anogenital anomalies syndrome GARD GARD:0004633 one_to_one MONDO:0010718 absent radius-anogenital anomalies syndrome MESH MESH:C535281 one_to_one MONDO:0010718 absent radius-anogenital anomalies syndrome MONDO MONDO:0017432,MONDO:0018455 subclass @@ -62932,9 +64705,9 @@ MONDO:0010723 retinitis pigmentosa 2 DOID DOID:0110415 one_to_one MONDO:0010723 retinitis pigmentosa 2 ICD10 ICD10:H35.5 inexact MONDO:0010723 retinitis pigmentosa 2 MESH MESH:C567523 one_to_one MONDO:0010723 retinitis pigmentosa 2 MONDO MONDO:0019200 subclass -MONDO:0010723 retinitis pigmentosa 2 NCBIGene NCBIGene:6102 disease_has_basis_in_dysfunction_of MONDO:0010723 retinitis pigmentosa 2 OMIM OMIM:312600 one_to_one MONDO:0010723 retinitis pigmentosa 2 UMLS UMLS:C2681923 one_to_one +MONDO:0010723 retinitis pigmentosa 2 http http://identifiers.org/hgnc/10274 disease_has_basis_in_dysfunction_of 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 @@ -62944,6 +64717,7 @@ 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 MONDO:0010725 X-linked retinoschisis SCTID SCTID:86923008 one_to_one +MONDO:0010725 X-linked retinoschisis http http://identifiers.org/hgnc/10457 disease_has_basis_in_dysfunction_of MONDO:0010726 Rett syndrome DOID DOID:1206 one_to_one MONDO:0010726 Rett syndrome GARD GARD:0005696 one_to_one MONDO:0010726 Rett syndrome ICD10 ICD10:F84.2 inexact @@ -62956,6 +64730,7 @@ MONDO:0010726 Rett syndrome OMIM OMIM:312750 one_to_one MONDO:0010726 Rett syndrome Orphanet Orphanet:778 one_to_one MONDO:0010726 Rett syndrome SCTID SCTID:68618008 one_to_one MONDO:0010726 Rett syndrome UMLS UMLS:C0035372 one_to_one +MONDO:0010726 Rett syndrome http http://identifiers.org/hgnc/6990 disease_has_basis_in_dysfunction_of MONDO:0010727 Russell-silver syndrome, X-linked ICD9 ICD9:758.81 inexact MONDO:0010727 Russell-silver syndrome, X-linked MONDO MONDO:0008394 subclass MONDO:0010727 Russell-silver syndrome, X-linked OMIM OMIM:312780 one_to_one @@ -62977,6 +64752,7 @@ MONDO:0010729 X-linked intellectual disability, Schimke type SCTID SCTID:7190100 MONDO:0010729 X-linked intellectual disability, Schimke type UMLS UMLS:C1839320 one_to_one MONDO:0010730 combined immunodeficiency, X-linked MONDO MONDO:0015131 subclass MONDO:0010730 combined immunodeficiency, X-linked OMIM OMIM:312863 one_to_one +MONDO:0010730 combined immunodeficiency, X-linked http http://identifiers.org/hgnc/6010 disease_has_basis_in_dysfunction_of MONDO:0010731 Simpson-Golabi-Behmel syndrome DOID DOID:0060248 one_to_one MONDO:0010731 Simpson-Golabi-Behmel syndrome GARD GARD:0007649 one_to_one MONDO:0010731 Simpson-Golabi-Behmel syndrome ICD10 ICD10:Q87.3 inexact @@ -62987,6 +64763,7 @@ MONDO:0010731 Simpson-Golabi-Behmel syndrome NCIT NCIT:C131002 one_to_one MONDO:0010731 Simpson-Golabi-Behmel syndrome OMIM OMIM:312870 one_to_one MONDO:0010731 Simpson-Golabi-Behmel syndrome Orphanet Orphanet:373 one_to_one MONDO:0010731 Simpson-Golabi-Behmel syndrome SCTID SCTID:439143004 one_to_one +MONDO:0010731 Simpson-Golabi-Behmel syndrome http http://identifiers.org/hgnc/4451,http://identifiers.org/hgnc/4452 disease_has_basis_in_dysfunction_of MONDO:0010732 spastic paraparesis-deafness syndrome GARD GARD:0005555 one_to_one MONDO:0010732 spastic paraparesis-deafness syndrome ICD10 ICD10:G11.4 inexact MONDO:0010732 spastic paraparesis-deafness syndrome MESH MESH:C536692 one_to_one @@ -62998,10 +64775,11 @@ 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 subclass +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 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 +MONDO:0010733 hereditary spastic paraplegia 2 http http://identifiers.org/hgnc/9086 disease_has_basis_in_dysfunction_of MONDO:0010734 spatial visualization, aptitude for MESH MESH:C564058 one_to_one MONDO:0010734 spatial visualization, aptitude for MONDO MONDO:0003847 subclass MONDO:0010734 spatial visualization, aptitude for OMIM OMIM:313000 one_to_one @@ -63016,6 +64794,7 @@ MONDO:0010735 Kennedy disease NCIT NCIT:C85233 one_to_one MONDO:0010735 Kennedy disease OMIM OMIM:313200 one_to_one MONDO:0010735 Kennedy disease Orphanet Orphanet:481 one_to_one MONDO:0010735 Kennedy disease UMLS UMLS:C1839259 one_to_one +MONDO:0010735 Kennedy disease http http://identifiers.org/hgnc/644 disease_has_basis_in_dysfunction_of MONDO:0010736 split hand-foot malformation 2 DOID DOID:0090027 one_to_one MONDO:0010736 split hand-foot malformation 2 GARD GARD:0004968 one_to_one MONDO:0010736 split hand-foot malformation 2 ICD10 ICD10:Q71.6 inexact @@ -63025,6 +64804,7 @@ MONDO:0010736 split hand-foot malformation 2 OMIM OMIM:313350 one_to_one MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked GARD GARD:0004985 one_to_one MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked MONDO MONDO:0007738,MONDO:0019667 subclass MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked OMIM OMIM:313400 one_to_one +MONDO:0010737 spondyloepiphyseal dysplasia tarda, X-linked http http://identifiers.org/hgnc/23068 disease_has_basis_in_dysfunction_of MONDO:0010738 spondylometaphyseal dysplasia, golden type GARD GARD:0008343 one_to_one MONDO:0010738 spondylometaphyseal dysplasia, golden type ICD10 ICD10:Q77.8 inexact MONDO:0010738 spondylometaphyseal dysplasia, golden type MESH MESH:C563124 one_to_one @@ -63043,6 +64823,7 @@ MONDO:0010741 tooth agenesis, selective, X-linked, 1 MESH MESH:C567060 one_to_on MONDO:0010741 tooth agenesis, selective, X-linked, 1 MONDO MONDO:0003847,MONDO:0005486 subclass MONDO:0010741 tooth agenesis, selective, X-linked, 1 OMIM OMIM:313500 one_to_one MONDO:0010741 tooth agenesis, selective, X-linked, 1 UMLS UMLS:C1970757 one_to_one +MONDO:0010741 tooth agenesis, selective, X-linked, 1 http http://identifiers.org/hgnc/3157 disease_has_basis_in_dysfunction_of MONDO:0010742 pentalogy of Cantrell GARD GARD:0007359 one_to_one MONDO:0010742 pentalogy of Cantrell ICD10 ICD10:Q89.7 inexact MONDO:0010742 pentalogy of Cantrell ICD9 ICD9:759.89 inexact @@ -63059,6 +64840,7 @@ MONDO:0010743 X-linked thrombocytopenia with normal platelets MONDO MONDO:001705 MONDO:0010743 X-linked thrombocytopenia with normal platelets OMIM OMIM:313900 one_to_one MONDO:0010743 X-linked thrombocytopenia with normal platelets Orphanet Orphanet:852 one_to_one MONDO:0010743 X-linked thrombocytopenia with normal platelets UMLS UMLS:C1839163 one_to_one +MONDO:0010743 X-linked thrombocytopenia with normal platelets http http://identifiers.org/hgnc/12731 disease_has_basis_in_dysfunction_of MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease GARD GARD:0010576 one_to_one MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease MESH MESH:C564051 one_to_one MONDO:0010744 thrombocytopenia with elevated serum IgA and renal disease MONDO MONDO:0003847 subclass @@ -63072,6 +64854,7 @@ MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome OMIM OMIM:3140 MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome Orphanet Orphanet:231393 one_to_one MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome SCTID SCTID:718196002 one_to_one MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome UMLS UMLS:C1839161 one_to_one +MONDO:0010745 beta-thalassemia-X-linked thrombocytopenia syndrome http http://identifiers.org/hgnc/4170 disease_has_basis_in_dysfunction_of MONDO:0010746 thumbs, congenital Clasped GARD GARD:0010277 one_to_one MONDO:0010746 thumbs, congenital Clasped MONDO MONDO:0003847 subclass MONDO:0010746 thumbs, congenital Clasped OMIM OMIM:314100 one_to_one @@ -63086,6 +64869,7 @@ MONDO:0010747 X-linked dystonia-parkinsonism OMIM OMIM:314250 one_to_one MONDO:0010747 X-linked dystonia-parkinsonism Orphanet Orphanet:53351 one_to_one MONDO:0010747 X-linked dystonia-parkinsonism SCTID SCTID:698279003 one_to_one MONDO:0010747 X-linked dystonia-parkinsonism UMLS UMLS:C1839130 one_to_one +MONDO:0010747 X-linked dystonia-parkinsonism http http://identifiers.org/hgnc/11535 disease_has_basis_in_dysfunction_of MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome GARD GARD:0005230 one_to_one MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome MESH MESH:C536970 one_to_one @@ -63113,10 +64897,12 @@ MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus GARD MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus MONDO MONDO:0010172 subclass MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus OMIM OMIM:314390 one_to_one MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus UMLS UMLS:C2931228 one_to_one +MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus http http://identifiers.org/hgnc/12874,http://identifiers.org/hgnc/3583 disease_has_basis_in_dysfunction_of MONDO:0010753 cardiac valvular dysplasia, X-linked GARD GARD:0001096 one_to_one MONDO:0010753 cardiac valvular dysplasia, X-linked MESH MESH:C535576 one_to_one MONDO:0010753 cardiac valvular dysplasia, X-linked MONDO MONDO:0015989 subclass MONDO:0010753 cardiac valvular dysplasia, X-linked OMIM OMIM:314400 one_to_one +MONDO:0010753 cardiac valvular dysplasia, X-linked http http://identifiers.org/hgnc/3754 disease_has_basis_in_dysfunction_of MONDO:0010754 van den Bosch syndrome GARD GARD:0005453 one_to_one MONDO:0010754 van den Bosch syndrome MESH MESH:C563129 one_to_one MONDO:0010754 van den Bosch syndrome MONDO MONDO:0015946,MONDO:0019271,MONDO:0020119 subclass @@ -63181,6 +64967,7 @@ MONDO:0010765 46,XY complete gonadal dysgenesis OMIMPS OMIMPS:400044 one_to_one MONDO:0010765 46,XY complete gonadal dysgenesis Orphanet Orphanet:242 one_to_one MONDO:0010765 46,XY complete gonadal dysgenesis SCTID SCTID:95218005 one_to_one MONDO:0010765 46,XY complete gonadal dysgenesis UMLS UMLS:C0018054,UMLS:C2936694 inexact +MONDO:0010765 46,XY complete gonadal dysgenesis http http://identifiers.org/hgnc/11311 disease_has_basis_in_dysfunction_of MONDO:0010766 46,XX testicular disorder of sex development GARD GARD:0000399 one_to_one MONDO:0010766 46,XX testicular disorder of sex development ICD10 ICD10:Q99.1 inexact MONDO:0010766 46,XX testicular disorder of sex development MESH MESH:D058531 one_to_one @@ -63189,9 +64976,11 @@ MONDO:0010766 46,XX testicular disorder of sex development NCIT NCIT:C127170 one MONDO:0010766 46,XX testicular disorder of sex development OMIM OMIM:400045 one_to_one MONDO:0010766 46,XX testicular disorder of sex development Orphanet Orphanet:393 one_to_one MONDO:0010766 46,XX testicular disorder of sex development UMLS UMLS:C2936419,UMLS:CN205000 inexact +MONDO:0010766 46,XX testicular disorder of sex development http http://identifiers.org/hgnc/11311 disease_has_basis_in_dysfunction_of MONDO:0010767 spermatogenic failure, Y-linked, 2 MESH MESH:C564030 one_to_one MONDO:0010767 spermatogenic failure, Y-linked, 2 MONDO MONDO:0004983,MONDO:0015607 subclass MONDO:0010767 spermatogenic failure, Y-linked, 2 OMIM OMIM:415000 one_to_one +MONDO:0010767 spermatogenic failure, Y-linked, 2 http http://identifiers.org/hgnc/11115,http://identifiers.org/hgnc/12633,http://identifiers.org/hgnc/12668,http://identifiers.org/hgnc/13508,http://identifiers.org/hgnc/14024,http://identifiers.org/hgnc/15964,http://identifiers.org/hgnc/15965,http://identifiers.org/hgnc/1809,http://identifiers.org/hgnc/1810,http://identifiers.org/hgnc/18501,http://identifiers.org/hgnc/18568,http://identifiers.org/hgnc/18571,http://identifiers.org/hgnc/21504,http://identifiers.org/hgnc/2682,http://identifiers.org/hgnc/2699,http://identifiers.org/hgnc/9912 disease_has_basis_in_dysfunction_of MONDO:0010768 gonadoblastoma DOID DOID:3301 one_to_one MONDO:0010768 gonadoblastoma ICD10 ICD10:D39.1 inexact MONDO:0010768 gonadoblastoma ICDO ICDO:9073/1 one_to_one @@ -63199,6 +64988,7 @@ MONDO:0010768 gonadoblastoma MESH MESH:D018238 one_to_one MONDO:0010768 gonadoblastoma MONDO MONDO:0002149,MONDO:0002259,MONDO:0002478,MONDO:0005565,MONDO:0005853 subclass MONDO:0010768 gonadoblastoma NCIT NCIT:C35892 has_finding MONDO:0010768 gonadoblastoma NCIT NCIT:C3754 one_to_one +MONDO:0010768 gonadoblastoma ONCOTREE ONCOTREE:OGBL one_to_one MONDO:0010768 gonadoblastoma UBERON UBERON:0000991 disease_has_location MONDO:0010768 gonadoblastoma UMLS UMLS:C0206661 one_to_one MONDO:0010769 hairy ears, Y-linked MESH MESH:C564029 one_to_one @@ -63217,7 +65007,8 @@ MONDO:0010771 histiocytoid cardiomyopathy OMIM OMIM:500000 one_to_one MONDO:0010771 histiocytoid cardiomyopathy Orphanet Orphanet:137675 one_to_one MONDO:0010771 histiocytoid cardiomyopathy UMLS UMLS:C1708371,UMLS:CN239812 inexact MONDO:0010772 Leber optic atrophy and dystonia GARD GARD:0008476 one_to_one -MONDO:0010772 Leber optic atrophy and dystonia MONDO MONDO:0020478 subclass +MONDO:0010772 Leber optic atrophy and dystonia MESH MESH:C536024 one_to_one +MONDO:0010772 Leber optic atrophy and dystonia MONDO MONDO:0010788,MONDO:0020478 subclass MONDO:0010772 Leber optic atrophy and dystonia OMIM OMIM:500001 one_to_one 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 @@ -63254,6 +65045,7 @@ MONDO:0010779 mitochondrial non-syndromic sensorineural deafness ICD10 ICD10:H90 MONDO:0010779 mitochondrial non-syndromic sensorineural deafness MONDO MONDO:0015960,MONDO:0016297,MONDO:0016298,MONDO:0016793,MONDO:0037940 subclass MONDO:0010779 mitochondrial non-syndromic sensorineural deafness OMIM OMIM:500008 one_to_one MONDO:0010779 mitochondrial non-syndromic sensorineural deafness Orphanet Orphanet:90641 one_to_one +MONDO:0010779 mitochondrial non-syndromic sensorineural deafness http http://identifiers.org/hgnc/7419,http://identifiers.org/hgnc/7470,http://identifiers.org/hgnc/7497 disease_has_basis_in_dysfunction_of MONDO:0010780 mitochondrial myopathy with reversible cytochrome c oxidase deficiency ICD10 ICD10:G71.3 inexact MONDO:0010780 mitochondrial myopathy with reversible cytochrome c oxidase deficiency MONDO MONDO:0009637,MONDO:0016794 subclass MONDO:0010780 mitochondrial myopathy with reversible cytochrome c oxidase deficiency OMIM OMIM:500009 one_to_one @@ -63300,12 +65092,14 @@ MONDO:0010787 Kearns-Sayre syndrome UMLS UMLS:C0022541 one_to_one MONDO:0010788 Leber hereditary optic neuropathy DOID DOID:705 one_to_one MONDO:0010788 Leber hereditary optic neuropathy GARD GARD:0006870 one_to_one MONDO:0010788 Leber hereditary optic neuropathy ICD10 ICD10:H47.2,ICD10:H47.22 inexact +MONDO:0010788 Leber hereditary optic neuropathy MESH MESH:D029242 one_to_one MONDO:0010788 Leber hereditary optic neuropathy MONDO MONDO:0004884,MONDO:0016327,MONDO:0016335,MONDO:0016793,MONDO:0020127,MONDO:0020249,MONDO:0020265,MONDO:0043878 subclass MONDO:0010788 Leber hereditary optic neuropathy NCIT NCIT:C84808 one_to_one MONDO:0010788 Leber hereditary optic neuropathy OMIM OMIM:535000 one_to_one MONDO:0010788 Leber hereditary optic neuropathy Orphanet Orphanet:104 one_to_one MONDO:0010788 Leber hereditary optic neuropathy SCTID SCTID:58610003 one_to_one MONDO:0010788 Leber hereditary optic neuropathy UMLS UMLS:C0917796 one_to_one +MONDO:0010788 Leber hereditary optic neuropathy http http://identifiers.org/hgnc/7414,http://identifiers.org/hgnc/7422,http://identifiers.org/hgnc/7427,http://identifiers.org/hgnc/7455,http://identifiers.org/hgnc/7456,http://identifiers.org/hgnc/7459,http://identifiers.org/hgnc/7460,http://identifiers.org/hgnc/7461,http://identifiers.org/hgnc/7462 disease_has_basis_in_dysfunction_of MONDO:0010789 MELAS syndrome DOID DOID:3687 one_to_one MONDO:0010789 MELAS syndrome GARD GARD:0007009 one_to_one MONDO:0010789 MELAS syndrome ICD10 ICD10:E88.41,ICD10:G71.3 inexact @@ -63318,6 +65112,7 @@ MONDO:0010789 MELAS syndrome OMIM OMIM:540000 one_to_one MONDO:0010789 MELAS syndrome Orphanet Orphanet:550 one_to_one MONDO:0010789 MELAS syndrome SCTID SCTID:39925003 one_to_one MONDO:0010789 MELAS syndrome UMLS UMLS:C0162671 one_to_one +MONDO:0010789 MELAS syndrome http http://identifiers.org/hgnc/7419,http://identifiers.org/hgnc/7421,http://identifiers.org/hgnc/7422,http://identifiers.org/hgnc/7427,http://identifiers.org/hgnc/7455,http://identifiers.org/hgnc/7461,http://identifiers.org/hgnc/7462,http://identifiers.org/hgnc/7477,http://identifiers.org/hgnc/7481,http://identifiers.org/hgnc/7489,http://identifiers.org/hgnc/7490,http://identifiers.org/hgnc/7495,http://identifiers.org/hgnc/7497,http://identifiers.org/hgnc/7498,http://identifiers.org/hgnc/7500 disease_has_basis_in_dysfunction_of MONDO:0010790 MERRF syndrome DOID DOID:310 one_to_one MONDO:0010790 MERRF syndrome GARD GARD:0007144 one_to_one MONDO:0010790 MERRF syndrome ICD10 ICD10:E88.42,ICD10:G71.3 inexact @@ -63330,6 +65125,7 @@ MONDO:0010790 MERRF syndrome OMIM OMIM:545000 one_to_one MONDO:0010790 MERRF syndrome Orphanet Orphanet:551 one_to_one MONDO:0010790 MERRF syndrome SCTID SCTID:68448003 one_to_one MONDO:0010790 MERRF syndrome UMLS UMLS:C0162672 one_to_one +MONDO:0010790 MERRF syndrome http http://identifiers.org/hgnc/7481,http://identifiers.org/hgnc/7488,http://identifiers.org/hgnc/7489,http://identifiers.org/hgnc/7490,http://identifiers.org/hgnc/7494 disease_has_basis_in_dysfunction_of MONDO:0010791 myoglobinuria, recurrent GARD GARD:0003879 one_to_one MONDO:0010791 myoglobinuria, recurrent MESH MESH:C564018 one_to_one MONDO:0010791 myoglobinuria, recurrent MONDO MONDO:0000866,MONDO:0020504 subclass @@ -63340,6 +65136,7 @@ MONDO:0010792 lethal infantile mitochondrial myopathy MONDO MONDO:0009637,MONDO: MONDO:0010792 lethal infantile mitochondrial myopathy OMIM OMIM:551000 one_to_one MONDO:0010792 lethal infantile mitochondrial myopathy Orphanet Orphanet:254857 one_to_one MONDO:0010792 lethal infantile mitochondrial myopathy UMLS UMLS:C1838876 one_to_one +MONDO:0010792 lethal infantile mitochondrial myopathy http http://identifiers.org/hgnc/7499 disease_has_basis_in_dysfunction_of MONDO:0010793 nephropathy, chronic tubulointerstitial MESH MESH:C564016 one_to_one MONDO:0010793 nephropathy, chronic tubulointerstitial MONDO MONDO:0003847 subclass MONDO:0010793 nephropathy, chronic tubulointerstitial OMIM OMIM:551200 one_to_one @@ -63352,6 +65149,7 @@ MONDO:0010794 NARP syndrome MedDRA MedDRA:10062940 one_to_one MONDO:0010794 NARP syndrome OMIM OMIM:551500 one_to_one MONDO:0010794 NARP syndrome Orphanet Orphanet:644 one_to_one MONDO:0010794 NARP syndrome UMLS UMLS:C1328349 one_to_one +MONDO:0010794 NARP syndrome http http://identifiers.org/hgnc/7414 disease_has_basis_in_dysfunction_of MONDO:0010795 oncocytic neoplasm MONDO MONDO:0024276 subclass MONDO:0010795 oncocytic neoplasm NCIT NCIT:C7072 one_to_one MONDO:0010795 oncocytic neoplasm OMIM OMIM:553000 one_to_one @@ -63360,6 +65158,7 @@ MONDO:0010796 Parkinson disease, mitochondrial MESH MESH:C564015 one_to_one MONDO:0010796 Parkinson disease, mitochondrial MONDO MONDO:0005180 subclass MONDO:0010796 Parkinson disease, mitochondrial OMIM OMIM:556500 one_to_one MONDO:0010796 Parkinson disease, mitochondrial UMLS UMLS:C1838867 one_to_one +MONDO:0010796 Parkinson disease, mitochondrial http http://identifiers.org/hgnc/7499 disease_has_basis_in_dysfunction_of MONDO:0010797 Pearson syndrome DOID DOID:0060067 one_to_one MONDO:0010797 Pearson syndrome GARD GARD:0007343 one_to_one MONDO:0010797 Pearson syndrome HP HP:0001924 disease_has_feature @@ -63383,6 +65182,7 @@ MONDO:0010799 mitochondrial non-syndromic sensorineural deafness with susceptibi MONDO:0010799 mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure OMIM OMIM:580000 one_to_one MONDO:0010799 mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Orphanet Orphanet:168609 one_to_one MONDO:0010799 mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure UMLS UMLS:C1838854 one_to_one +MONDO:0010799 mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure http http://identifiers.org/hgnc/25481,http://identifiers.org/hgnc/7497 disease_has_basis_in_dysfunction_of MONDO:0010800 Wolfram syndrome, mitochondrial form MESH MESH:C564012 one_to_one MONDO:0010800 Wolfram syndrome, mitochondrial form MONDO MONDO:0018105 subclass MONDO:0010800 Wolfram syndrome, mitochondrial form OMIM OMIM:598500 one_to_one @@ -63402,12 +65202,14 @@ MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome M MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome OMIM OMIM:600001 one_to_one MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome Orphanet Orphanet:2255 one_to_one MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome SCTID SCTID:722206009 one_to_one +MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome http http://identifiers.org/hgnc/4174 disease_has_basis_in_dysfunction_of MONDO:0010803 Eiken syndrome MESH MESH:C564010 one_to_one MONDO:0010803 Eiken syndrome MONDO MONDO:0019692,MONDO:0019705 subclass MONDO:0010803 Eiken syndrome OMIM OMIM:600002 one_to_one MONDO:0010803 Eiken syndrome Orphanet Orphanet:79106 one_to_one MONDO:0010803 Eiken syndrome SCTID SCTID:720863002 one_to_one MONDO:0010803 Eiken syndrome UMLS UMLS:C1838779 one_to_one +MONDO:0010803 Eiken syndrome http http://identifiers.org/hgnc/9608 disease_has_basis_in_dysfunction_of MONDO:0010804 BRCATA MONDO MONDO:0016419 subclass MONDO:0010804 BRCATA OMIM OMIM:600048 one_to_one MONDO:0010805 bladder exstrophy (disease) DOID DOID:0080174 one_to_one @@ -63426,16 +65228,16 @@ MONDO:0010806 retinitis pigmentosa 13 GARD GARD:0010388 one_to_one MONDO:0010806 retinitis pigmentosa 13 ICD10 ICD10:H35.5 inexact MONDO:0010806 retinitis pigmentosa 13 MESH MESH:C564008 one_to_one MONDO:0010806 retinitis pigmentosa 13 MONDO MONDO:0019200 subclass -MONDO:0010806 retinitis pigmentosa 13 NCBIGene NCBIGene:10594 disease_has_basis_in_dysfunction_of MONDO:0010806 retinitis pigmentosa 13 OMIM OMIM:600059 one_to_one MONDO:0010806 retinitis pigmentosa 13 UMLS UMLS:C1838702 one_to_one +MONDO:0010806 retinitis pigmentosa 13 http http://identifiers.org/hgnc/17340 disease_has_basis_in_dysfunction_of MONDO:0010807 autosomal recessive nonsyndromic deafness 2 DOID DOID:0110477 one_to_one MONDO:0010807 autosomal recessive nonsyndromic deafness 2 ICD10 ICD10:H90.3 inexact MONDO:0010807 autosomal recessive nonsyndromic deafness 2 MESH MESH:C564007 one_to_one MONDO:0010807 autosomal recessive nonsyndromic deafness 2 MONDO MONDO:0019588 subclass -MONDO:0010807 autosomal recessive nonsyndromic deafness 2 NCBIGene NCBIGene:4647 disease_has_basis_in_dysfunction_of MONDO:0010807 autosomal recessive nonsyndromic deafness 2 OMIM OMIM:600060 one_to_one MONDO:0010807 autosomal recessive nonsyndromic deafness 2 UMLS UMLS:C1838701 one_to_one +MONDO:0010807 autosomal recessive nonsyndromic deafness 2 http http://identifiers.org/hgnc/7606 disease_has_basis_in_dysfunction_of MONDO:0010808 fatal familial insomnia DOID DOID:0050433 one_to_one MONDO:0010808 fatal familial insomnia GARD GARD:0006429 one_to_one MONDO:0010808 fatal familial insomnia ICD10 ICD10:A81.8,ICD10:A81.83 inexact @@ -63448,6 +65250,7 @@ MONDO:0010808 fatal familial insomnia OMIM OMIM:600072 one_to_one MONDO:0010808 fatal familial insomnia Orphanet Orphanet:466 one_to_one MONDO:0010808 fatal familial insomnia SCTID SCTID:83157008 one_to_one MONDO:0010808 fatal familial insomnia UMLS UMLS:C0206042 one_to_one +MONDO:0010808 fatal familial insomnia http http://identifiers.org/hgnc/9449 disease_has_basis_in_dysfunction_of MONDO:0010809 familial chronic myelocytic leukemia-like syndrome DOID DOID:0060761 one_to_one MONDO:0010809 familial chronic myelocytic leukemia-like syndrome GARD GARD:0010141 one_to_one MONDO:0010809 familial chronic myelocytic leukemia-like syndrome MESH MESH:C536093 one_to_one @@ -63456,10 +65259,11 @@ MONDO:0010809 familial chronic myelocytic leukemia-like syndrome OMIM OMIM:60008 MONDO:0010809 familial chronic myelocytic leukemia-like syndrome UMLS UMLS:C1838670 one_to_one MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B GO GO:0030343 disease_has_basis_in_disruption_of MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B MESH MESH:C564005 one_to_one -MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B MONDO MONDO:0009924,MONDO:0021196 subclass +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B MONDO MONDO:0009924,MONDO:0015327,MONDO:0044976 subclass MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B NCIT NCIT:C131074 one_to_one MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B OMIM OMIM:600081 one_to_one MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B UMLS UMLS:C1838657 one_to_one +MONDO:0010810 vitamin D hydroxylation-deficient rickets, type 1B http http://identifiers.org/hgnc/20580 disease_has_basis_in_dysfunction_of MONDO:0010811 benign prostatic hyperplasia (disease) COHD COHD:198803 one_to_one MONDO:0010811 benign prostatic hyperplasia (disease) DOID DOID:11132 one_to_one MONDO:0010811 benign prostatic hyperplasia (disease) EFO EFO:0000284 one_to_one @@ -63507,17 +65311,17 @@ MONDO:0010817 autosomal dominant nonsyndromic deafness 2A DOID DOID:0110558 one_ MONDO:0010817 autosomal dominant nonsyndromic deafness 2A ICD10 ICD10:H90.3 inexact MONDO:0010817 autosomal dominant nonsyndromic deafness 2A MESH MESH:C567441 one_to_one MONDO:0010817 autosomal dominant nonsyndromic deafness 2A MONDO MONDO:0019587 subclass -MONDO:0010817 autosomal dominant nonsyndromic deafness 2A NCBIGene NCBIGene:9132 disease_has_basis_in_dysfunction_of MONDO:0010817 autosomal dominant nonsyndromic deafness 2A OMIM OMIM:600101 one_to_one MONDO:0010817 autosomal dominant nonsyndromic deafness 2A UMLS UMLS:C2677637 one_to_one +MONDO:0010817 autosomal dominant nonsyndromic deafness 2A http http://identifiers.org/hgnc/6298 disease_has_basis_in_dysfunction_of MONDO:0010818 retinitis pigmentosa 12 DOID DOID:0110358 one_to_one MONDO:0010818 retinitis pigmentosa 12 GARD GARD:0010376 one_to_one MONDO:0010818 retinitis pigmentosa 12 ICD10 ICD10:H35.5 inexact MONDO:0010818 retinitis pigmentosa 12 MESH MESH:C563999 one_to_one MONDO:0010818 retinitis pigmentosa 12 MONDO MONDO:0019200 subclass -MONDO:0010818 retinitis pigmentosa 12 NCBIGene NCBIGene:23418 disease_has_basis_in_dysfunction_of MONDO:0010818 retinitis pigmentosa 12 OMIM OMIM:600105 one_to_one MONDO:0010818 retinitis pigmentosa 12 UMLS UMLS:C1838647 one_to_one +MONDO:0010818 retinitis pigmentosa 12 http http://identifiers.org/hgnc/2343 disease_has_basis_in_dysfunction_of MONDO:0010819 Stargardt disease 3 MESH MESH:C535805 one_to_one MONDO:0010819 Stargardt disease 3 MONDO MONDO:0019353 subclass MONDO:0010819 Stargardt disease 3 OMIM OMIM:600110 one_to_one @@ -63527,6 +65331,7 @@ MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 GARD GARD:0009642 MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 MONDO MONDO:0017279 subclass MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 OMIM OMIM:600116 one_to_one MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 UMLS UMLS:C1868675 one_to_one +MONDO:0010820 autosomal recessive juvenile Parkinson disease 2 http http://identifiers.org/hgnc/8607 disease_has_basis_in_dysfunction_of MONDO:0010821 familial developmental dysphasia GARD GARD:0001823 one_to_one MONDO:0010821 familial developmental dysphasia ICD10 ICD10:F80.1 inexact MONDO:0010821 familial developmental dysphasia MESH MESH:C563997 one_to_one @@ -63538,17 +65343,17 @@ MONDO:0010821 familial developmental dysphasia UMLS UMLS:C1838630 one_to_one MONDO:0010822 Warburg micro syndrome 1 DOID DOID:0110716 one_to_one MONDO:0010822 Warburg micro syndrome 1 ICD10 ICD10:Q87.0 inexact MONDO:0010822 Warburg micro syndrome 1 MONDO MONDO:0016649 subclass -MONDO:0010822 Warburg micro syndrome 1 NCBIGene NCBIGene:22930 disease_has_basis_in_dysfunction_of MONDO:0010822 Warburg micro syndrome 1 OMIM OMIM:600118 one_to_one +MONDO:0010822 Warburg micro syndrome 1 http http://identifiers.org/hgnc/17063 disease_has_basis_in_dysfunction_of MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 DOID DOID:0110853 one_to_one MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 GARD GARD:0009682 one_to_one MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 ICD10 ICD10:Q77.3 inexact MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MESH MESH:C537608 one_to_one MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 MONDO MONDO:0015776 subclass -MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 NCBIGene NCBIGene:8540 disease_has_basis_in_dysfunction_of MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 OMIM OMIM:600121 one_to_one MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 Orphanet Orphanet:309803 one_to_one MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 UMLS UMLS:C1838612 one_to_one +MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 http http://identifiers.org/hgnc/327 disease_has_basis_in_dysfunction_of 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 @@ -63573,17 +65378,17 @@ MONDO:0010827 retinitis pigmentosa 14 DOID DOID:0110381 one_to_one MONDO:0010827 retinitis pigmentosa 14 GARD GARD:0010385 one_to_one MONDO:0010827 retinitis pigmentosa 14 ICD10 ICD10:H35.5 inexact MONDO:0010827 retinitis pigmentosa 14 MONDO MONDO:0019200 subclass -MONDO:0010827 retinitis pigmentosa 14 NCBIGene NCBIGene:7287 disease_has_basis_in_dysfunction_of MONDO:0010827 retinitis pigmentosa 14 OMIM OMIM:600132 one_to_one MONDO:0010827 retinitis pigmentosa 14 UMLS UMLS:C1838603 one_to_one +MONDO:0010827 retinitis pigmentosa 14 http http://identifiers.org/hgnc/12423 disease_has_basis_in_dysfunction_of MONDO:0010828 retinitis pigmentosa 11 DOID DOID:0110408 one_to_one MONDO:0010828 retinitis pigmentosa 11 GARD GARD:0010383 one_to_one MONDO:0010828 retinitis pigmentosa 11 ICD10 ICD10:H35.5 inexact MONDO:0010828 retinitis pigmentosa 11 MESH MESH:C563991 one_to_one MONDO:0010828 retinitis pigmentosa 11 MONDO MONDO:0019200 subclass -MONDO:0010828 retinitis pigmentosa 11 NCBIGene NCBIGene:26121 disease_has_basis_in_dysfunction_of MONDO:0010828 retinitis pigmentosa 11 OMIM OMIM:600138 one_to_one MONDO:0010828 retinitis pigmentosa 11 UMLS UMLS:C1838601 one_to_one +MONDO:0010828 retinitis pigmentosa 11 http http://identifiers.org/hgnc/15446 disease_has_basis_in_dysfunction_of MONDO:0010829 CARASIL GARD GARD:0010424 one_to_one MONDO:0010829 CARASIL ICD10 ICD10:F01.1 inexact MONDO:0010829 CARASIL MESH MESH:C563990 one_to_one @@ -63592,13 +65397,14 @@ MONDO:0010829 CARASIL OMIM OMIM:600142 one_to_one MONDO:0010829 CARASIL Orphanet Orphanet:199354 one_to_one MONDO:0010829 CARASIL SCTID SCTID:703219008 one_to_one MONDO:0010829 CARASIL UMLS UMLS:C1838577 one_to_one +MONDO:0010829 CARASIL http http://identifiers.org/hgnc/9476 disease_has_basis_in_dysfunction_of MONDO:0010830 neuronal ceroid lipofuscinosis 8 DOID DOID:0110723 one_to_one MONDO:0010830 neuronal ceroid lipofuscinosis 8 ICD10 ICD10:E75.4 inexact MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO MONDO:0015674,MONDO:0016295,MONDO:0019262 subclass -MONDO:0010830 neuronal ceroid lipofuscinosis 8 NCBIGene NCBIGene:2055 disease_has_basis_in_dysfunction_of MONDO:0010830 neuronal ceroid lipofuscinosis 8 OMIM OMIM:600143 one_to_one MONDO:0010830 neuronal ceroid lipofuscinosis 8 Orphanet Orphanet:228354 one_to_one MONDO:0010830 neuronal ceroid lipofuscinosis 8 SCTID SCTID:703526007 one_to_one +MONDO:0010830 neuronal ceroid lipofuscinosis 8 http http://identifiers.org/hgnc/2079 disease_has_basis_in_dysfunction_of MONDO:0010831 familial caudal dysgenesis GARD GARD:0000215,GARD:0004751 inexact MONDO:0010831 familial caudal dysgenesis ICD10 ICD10:Q87.8 inexact MONDO:0010831 familial caudal dysgenesis MONDO MONDO:0017120,MONDO:0018639,MONDO:0019117 subclass @@ -63606,16 +65412,18 @@ MONDO:0010831 familial caudal dysgenesis NCIT NCIT:C99054 one_to_one MONDO:0010831 familial caudal dysgenesis OMIM OMIM:600145 one_to_one MONDO:0010831 familial caudal dysgenesis Orphanet Orphanet:1768 one_to_one MONDO:0010831 familial caudal dysgenesis SCTID SCTID:722493007 one_to_one +MONDO:0010831 familial caudal dysgenesis http http://identifiers.org/hgnc/15512 disease_has_basis_in_dysfunction_of MONDO:0010832 Bardet-Biedl syndrome 3 DOID DOID:0110125 one_to_one MONDO:0010832 Bardet-Biedl syndrome 3 GARD GARD:0000822 one_to_one MONDO:0010832 Bardet-Biedl syndrome 3 ICD10 ICD10:Q87.89 inexact MONDO:0010832 Bardet-Biedl syndrome 3 MESH MESH:C537911 one_to_one -MONDO:0010832 Bardet-Biedl syndrome 3 MONDO MONDO:0015229 subclass +MONDO:0010832 Bardet-Biedl syndrome 3 MONDO MONDO:0013312,MONDO:0015229 subclass MONDO:0010832 Bardet-Biedl syndrome 3 OMIM OMIM:600151 one_to_one MONDO:0010832 Bardet-Biedl syndrome 3 UMLS UMLS:C1859564 one_to_one MONDO:0010833 Hirschsprung disease, susceptibility to, 2 GARD GARD:0002698 one_to_one MONDO:0010833 Hirschsprung disease, susceptibility to, 2 MONDO MONDO:0018309 subclass MONDO:0010833 Hirschsprung disease, susceptibility to, 2 OMIM OMIM:600155 one_to_one +MONDO:0010833 Hirschsprung disease, susceptibility to, 2 http http://identifiers.org/hgnc/3180 disease_has_basis_in_dysfunction_of MONDO:0010834 HSCR5 MONDO MONDO:0018309 subclass MONDO:0010834 HSCR5 OMIM OMIM:600156 one_to_one MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome GARD GARD:0004568 one_to_one @@ -63636,6 +65444,7 @@ MONDO:0010837 primary hyperparathyroidism (disease) EFO EFO:0008519 one_to_one MONDO:0010837 primary hyperparathyroidism (disease) HP HP:0008200 one_to_one MONDO:0010837 primary hyperparathyroidism (disease) ICD10 ICD10:E21.0 inexact MONDO:0010837 primary hyperparathyroidism (disease) ICD9 ICD9:252.01 one_to_one +MONDO:0010837 primary hyperparathyroidism (disease) MESH MESH:D049950 one_to_one MONDO:0010837 primary hyperparathyroidism (disease) MONDO MONDO:0001741 subclass MONDO:0010837 primary hyperparathyroidism (disease) NCIT NCIT:C48280 one_to_one MONDO:0010837 primary hyperparathyroidism (disease) SCTID SCTID:36348003 one_to_one @@ -63648,6 +65457,7 @@ MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy MONDO MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy OMIM OMIM:600175 one_to_one MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy Orphanet Orphanet:1216 one_to_one MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy UMLS UMLS:C1838492 one_to_one +MONDO:0010839 autosomal dominant congenital benign spinal muscular atrophy http http://identifiers.org/hgnc/18083 disease_has_basis_in_dysfunction_of MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome GARD GARD:0000409 one_to_one MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome ICD10 ICD10:G40.4 inexact MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MESH MESH:C538091 one_to_one @@ -63668,18 +65478,22 @@ MONDO:0010842 multiple cutaneous and mucosal venous malformations MONDO MONDO:00 MONDO:0010842 multiple cutaneous and mucosal venous malformations OMIM OMIM:600195 one_to_one 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 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 MONDO:0010844 epiphyseal dysplasia, multiple, 2 MESH MESH:C535502 one_to_one -MONDO:0010844 epiphyseal dysplasia, multiple, 2 MONDO MONDO:0015627 subclass +MONDO:0010844 epiphyseal dysplasia, multiple, 2 MONDO MONDO:0015627,MONDO:0016648 subclass MONDO:0010844 epiphyseal dysplasia, multiple, 2 OMIM OMIM:600204 one_to_one MONDO:0010844 epiphyseal dysplasia, multiple, 2 UMLS UMLS:C1838429 one_to_one +MONDO:0010844 epiphyseal dysplasia, multiple, 2 http http://identifiers.org/hgnc/2218 disease_has_basis_in_dysfunction_of MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness GARD GARD:0000179 one_to_one MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness MESH MESH:C537831 one_to_one MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness MONDO MONDO:0015912 subclass MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness OMIM OMIM:600208 one_to_one MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness UMLS UMLS:C1834478 one_to_one +MONDO:0010845 macrothrombocytopenia and progressive sensorineural deafness http http://identifiers.org/hgnc/7579 disease_has_basis_in_dysfunction_of MONDO:0010846 EXT3 GARD GARD:0002206 one_to_one MONDO:0010846 EXT3 MESH MESH:C563975 one_to_one MONDO:0010846 EXT3 MONDO MONDO:0000024 subclass @@ -63701,6 +65515,7 @@ MONDO:0010848 spinocerebellar ataxia type 5 OMIM OMIM:600224 one_to_one MONDO:0010848 spinocerebellar ataxia type 5 Orphanet Orphanet:98766 one_to_one MONDO:0010848 spinocerebellar ataxia type 5 SCTID SCTID:719302009 one_to_one MONDO:0010848 spinocerebellar ataxia type 5 UMLS UMLS:C0752123 one_to_one +MONDO:0010848 spinocerebellar ataxia type 5 http http://identifiers.org/hgnc/11276 disease_has_basis_in_dysfunction_of MONDO:0010849 palmoplantar keratoderma, Bothnian type GARD GARD:0001862 one_to_one MONDO:0010849 palmoplantar keratoderma, Bothnian type MONDO MONDO:0006588 subclass MONDO:0010849 palmoplantar keratoderma, Bothnian type OMIM OMIM:600231 one_to_one @@ -63708,6 +65523,7 @@ MONDO:0010850 Tessier number 4 facial cleft ICD10 ICD10:Q18.8 inexact MONDO:0010850 Tessier number 4 facial cleft MONDO MONDO:0015415,MONDO:0015824 subclass MONDO:0010850 Tessier number 4 facial cleft OMIM OMIM:600251 one_to_one MONDO:0010850 Tessier number 4 facial cleft Orphanet Orphanet:141258 one_to_one +MONDO:0010850 Tessier number 4 facial cleft http http://identifiers.org/hgnc/29022 disease_has_basis_in_dysfunction_of MONDO:0010851 Lowry-MacLean syndrome GARD GARD:0003300 one_to_one MONDO:0010851 Lowry-MacLean syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010851 Lowry-MacLean syndrome MESH MESH:C537037 one_to_one @@ -63724,6 +65540,7 @@ MONDO:0010852 chromosome 8Q12.1-q21.2 deletion syndrome UMLS UMLS:C1838346 one_t MONDO:0010853 Helicobacter pylori infection, susceptibility to MONDO MONDO:0003847 subclass MONDO:0010853 Helicobacter pylori infection, susceptibility to OMIM OMIM:600263 one_to_one MONDO:0010853 Helicobacter pylori infection, susceptibility to UMLS UMLS:C1838332 one_to_one +MONDO:0010853 Helicobacter pylori infection, susceptibility to http http://identifiers.org/hgnc/5439,http://identifiers.org/hgnc/9685 disease_has_basis_in_dysfunction_of MONDO:0010854 Toriello-Lacassie-Droste syndrome GARD GARD:0010366 one_to_one MONDO:0010854 Toriello-Lacassie-Droste syndrome MESH MESH:C563969 one_to_one MONDO:0010854 Toriello-Lacassie-Droste syndrome MONDO MONDO:0019287 subclass @@ -63749,6 +65566,7 @@ MONDO:0010857 semantic dementia ICD10 ICD10:G31.0 inexact MONDO:0010857 semantic dementia MONDO MONDO:0015059,MONDO:0017160 subclass MONDO:0010857 semantic dementia OMIM OMIM:600274 one_to_one 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 @@ -63759,13 +65577,14 @@ MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome UMLS UMLS:C18 MONDO:0010859 atrioventricular septal defect 3 MONDO MONDO:0003847,MONDO:0015960,MONDO:0020029,MONDO:0020290 subclass MONDO:0010859 atrioventricular septal defect 3 OMIM OMIM:600309 one_to_one MONDO:0010859 atrioventricular septal defect 3 UMLS UMLS:C3275750 one_to_one +MONDO:0010859 atrioventricular septal defect 3 http http://identifiers.org/hgnc/4274 disease_has_basis_in_dysfunction_of MONDO:0010860 autosomal recessive nonsyndromic deafness 3 DOID DOID:0110488 one_to_one MONDO:0010860 autosomal recessive nonsyndromic deafness 3 ICD10 ICD10:H90.3 inexact MONDO:0010860 autosomal recessive nonsyndromic deafness 3 MESH MESH:C563961 one_to_one MONDO:0010860 autosomal recessive nonsyndromic deafness 3 MONDO MONDO:0019588 subclass -MONDO:0010860 autosomal recessive nonsyndromic deafness 3 NCBIGene NCBIGene:51168 disease_has_basis_in_dysfunction_of MONDO:0010860 autosomal recessive nonsyndromic deafness 3 OMIM OMIM:600316 one_to_one MONDO:0010860 autosomal recessive nonsyndromic deafness 3 UMLS UMLS:C1838263 one_to_one +MONDO:0010860 autosomal recessive nonsyndromic deafness 3 http http://identifiers.org/hgnc/7594 disease_has_basis_in_dysfunction_of MONDO:0010861 type 1 diabetes mellitus 3 DOID DOID:0110742 one_to_one MONDO:0010861 type 1 diabetes mellitus 3 ICD10 ICD10:E10 inexact MONDO:0010861 type 1 diabetes mellitus 3 MESH MESH:C563960 one_to_one @@ -63782,9 +65601,9 @@ MONDO:0010863 type 1 diabetes mellitus 5 DOID DOID:0110744 one_to_one MONDO:0010863 type 1 diabetes mellitus 5 ICD10 ICD10:E10 inexact MONDO:0010863 type 1 diabetes mellitus 5 MESH MESH:C563958 one_to_one MONDO:0010863 type 1 diabetes mellitus 5 MONDO MONDO:0005147 subclass -MONDO:0010863 type 1 diabetes mellitus 5 NCBIGene NCBIGene:387082 disease_has_basis_in_dysfunction_of MONDO:0010863 type 1 diabetes mellitus 5 OMIM OMIM:600320 one_to_one MONDO:0010863 type 1 diabetes mellitus 5 UMLS UMLS:C1838260 one_to_one +MONDO:0010863 type 1 diabetes mellitus 5 http http://identifiers.org/hgnc/21181 disease_has_basis_in_dysfunction_of MONDO:0010864 type 1 diabetes mellitus 7 DOID DOID:0110746 one_to_one MONDO:0010864 type 1 diabetes mellitus 7 ICD10 ICD10:E10 inexact MONDO:0010864 type 1 diabetes mellitus 7 MESH MESH:C563957 one_to_one @@ -63828,9 +65647,11 @@ MONDO:0010870 tibial muscular dystrophy OMIM OMIM:600334 one_to_one MONDO:0010870 tibial muscular dystrophy Orphanet Orphanet:609 one_to_one MONDO:0010870 tibial muscular dystrophy SCTID SCTID:698846009 one_to_one MONDO:0010870 tibial muscular dystrophy UMLS UMLS:C1450052,UMLS:C1838244 inexact +MONDO:0010870 tibial muscular dystrophy http http://identifiers.org/hgnc/12403 disease_has_basis_in_dysfunction_of MONDO:0010871 succinic acidemia MESH MESH:C563952 one_to_one MONDO:0010871 succinic acidemia MONDO MONDO:0003847 subclass MONDO:0010871 succinic acidemia OMIM OMIM:600335 one_to_one +MONDO:0010871 succinic acidemia Orphanet Orphanet:936 one_to_one MONDO:0010871 succinic acidemia UMLS UMLS:C1838243 one_to_one MONDO:0010872 PDDP MONDO MONDO:0003847 subclass MONDO:0010872 PDDP OMIM OMIM:600343 one_to_one @@ -63838,6 +65659,7 @@ MONDO:0010873 band heterotopia of brain MESH MESH:C563950 one_to_one MONDO:0010873 band heterotopia of brain MONDO MONDO:0020491 subclass MONDO:0010873 band heterotopia of brain OMIM OMIM:600348 one_to_one MONDO:0010873 band heterotopia of brain UMLS UMLS:C1838239 one_to_one +MONDO:0010873 band heterotopia of brain http http://identifiers.org/hgnc/3330 disease_has_basis_in_dysfunction_of MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency MESH MESH:C563949 one_to_one MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency MONDO MONDO:0003847 subclass MONDO:0010874 enteropathy, familial, with villous edema and immunoglobulin G2 deficiency OMIM OMIM:600351 one_to_one @@ -63865,10 +65687,11 @@ MONDO:0010878 hereditary spastic paraplegia 6 DOID DOID:0110811 one_to_one MONDO:0010878 hereditary spastic paraplegia 6 GARD GARD:0004928 one_to_one MONDO:0010878 hereditary spastic paraplegia 6 ICD10 ICD10:G11.4 inexact MONDO:0010878 hereditary spastic paraplegia 6 MESH MESH:C536866 one_to_one -MONDO:0010878 hereditary spastic paraplegia 6 MONDO MONDO:0017914 subclass +MONDO:0010878 hereditary spastic paraplegia 6 MONDO MONDO:0017914,MONDO:0019064 subclass MONDO:0010878 hereditary spastic paraplegia 6 OMIM OMIM:600363 one_to_one MONDO:0010878 hereditary spastic paraplegia 6 Orphanet Orphanet:100988 one_to_one MONDO:0010878 hereditary spastic paraplegia 6 UMLS UMLS:C1838192,UMLS:C4518537 inexact +MONDO:0010878 hereditary spastic paraplegia 6 http http://identifiers.org/hgnc/17043 disease_has_basis_in_dysfunction_of MONDO:0010879 CODAS syndrome GARD GARD:0001418 one_to_one MONDO:0010879 CODAS syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010879 CODAS syndrome MESH MESH:C536434 one_to_one @@ -63878,9 +65701,11 @@ MONDO:0010879 CODAS syndrome OMIM OMIM:600373 one_to_one MONDO:0010879 CODAS syndrome Orphanet Orphanet:1458 one_to_one MONDO:0010879 CODAS syndrome SCTID SCTID:717772000 one_to_one MONDO:0010879 CODAS syndrome UMLS UMLS:C1838180 one_to_one +MONDO:0010879 CODAS syndrome http http://identifiers.org/hgnc/9479 disease_has_basis_in_dysfunction_of MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 GARD GARD:0009901 one_to_one MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 MONDO MONDO:0019180 subclass MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 OMIM OMIM:600376 one_to_one +MONDO:0010880 telangiectasia, hereditary hemorrhagic, type 2 http http://identifiers.org/hgnc/175 disease_has_basis_in_dysfunction_of MONDO:0010881 mesomelia-synostoses syndrome GARD GARD:0004302 one_to_one MONDO:0010881 mesomelia-synostoses syndrome ICD10 ICD10:Q74.8 inexact MONDO:0010881 mesomelia-synostoses syndrome MESH MESH:C537348 one_to_one @@ -63902,7 +65727,7 @@ MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome OMIM OMIM: MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome Orphanet Orphanet:2835 one_to_one MONDO:0010883 pectus excavatum-macrocephaly-dysplastic nails syndrome UMLS UMLS:C2931302 one_to_one MONDO:0010884 muscular dystrophy, scapulohumeral MESH MESH:C562932 one_to_one -MONDO:0010884 muscular dystrophy, scapulohumeral MONDO MONDO:0017099 subclass +MONDO:0010884 muscular dystrophy, scapulohumeral MONDO MONDO:0001347 subclass MONDO:0010884 muscular dystrophy, scapulohumeral OMIM OMIM:600416 one_to_one MONDO:0010884 muscular dystrophy, scapulohumeral SCTID SCTID:240074006 one_to_one MONDO:0010884 muscular dystrophy, scapulohumeral UMLS UMLS:C0410192 one_to_one @@ -63979,6 +65804,7 @@ MONDO:0010894 maturity-onset diabetes of the young type 3 NCIT NCIT:C129742 one_ MONDO:0010894 maturity-onset diabetes of the young type 3 OMIM OMIM:600496 one_to_one MONDO:0010894 maturity-onset diabetes of the young type 3 SCTID SCTID:609570008 one_to_one MONDO:0010894 maturity-onset diabetes of the young type 3 UMLS UMLS:C1838100 one_to_one +MONDO:0010894 maturity-onset diabetes of the young type 3 http http://identifiers.org/hgnc/11621 disease_has_basis_in_dysfunction_of MONDO:0010895 ABCD syndrome DOID DOID:0050600 one_to_one MONDO:0010895 ABCD syndrome HP HP:0000407,HP:0001022 disease_has_feature MONDO:0010895 ABCD syndrome MESH MESH:C535334 one_to_one @@ -63986,6 +65812,7 @@ MONDO:0010895 ABCD syndrome MONDO MONDO:0006025,MONDO:0024255 subclass MONDO:0010895 ABCD syndrome OMIM OMIM:600501 one_to_one MONDO:0010895 ABCD syndrome Orphanet Orphanet:918 one_to_one MONDO:0010895 ABCD syndrome UMLS UMLS:C1838099,UMLS:CN206498 inexact +MONDO:0010895 ABCD syndrome http http://identifiers.org/hgnc/3180 disease_has_basis_in_dysfunction_of 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 @@ -64005,12 +65832,13 @@ MONDO:0010898 familial temporal lobe epilepsy 1 NCIT NCIT:C141441 one_to_one MONDO:0010898 familial temporal lobe epilepsy 1 OMIM OMIM:600512 one_to_one MONDO:0010898 familial temporal lobe epilepsy 1 Orphanet Orphanet:101046 one_to_one MONDO:0010898 familial temporal lobe epilepsy 1 UMLS UMLS:C1838062 one_to_one +MONDO:0010898 familial temporal lobe epilepsy 1 http http://identifiers.org/hgnc/6572,http://identifiers.org/hgnc/9957 disease_has_basis_in_dysfunction_of MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 DOID DOID:0060682 one_to_one MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 MESH MESH:C563930 one_to_one MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 MONDO MONDO:0000030,MONDO:0020300 subclass -MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 NCBIGene NCBIGene:1137 disease_has_basis_in_dysfunction_of MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 OMIM OMIM:600513 one_to_one MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 UMLS UMLS:C1838049 one_to_one +MONDO:0010899 autosomal dominant nocturnal frontal lobe epilepsy 1 http http://identifiers.org/hgnc/1958 disease_has_basis_in_dysfunction_of MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity GARD GARD:0005593 one_to_one MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity MESH MESH:C536744 one_to_one MONDO:0010900 intrauterine growth retardation with increased mitomycin c sensitivity MONDO MONDO:0019342 subclass @@ -64047,6 +65875,7 @@ MONDO:0010905 cone-rod dystrophy 1 UMLS UMLS:C1833564 one_to_one 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 +MONDO:0010906 orofacial cleft 11 http http://identifiers.org/hgnc/1071 disease_has_basis_in_dysfunction_of MONDO:0010907 familial hypertryptophanemia GARD GARD:0002871 one_to_one MONDO:0010907 familial hypertryptophanemia ICD10 ICD10:E70.8 inexact MONDO:0010907 familial hypertryptophanemia MESH MESH:C538393 one_to_one @@ -64055,6 +65884,7 @@ MONDO:0010907 familial hypertryptophanemia OMIM OMIM:600627 one_to_one MONDO:0010907 familial hypertryptophanemia Orphanet Orphanet:2224 one_to_one MONDO:0010907 familial hypertryptophanemia SCTID SCTID:721838005 one_to_one MONDO:0010907 familial hypertryptophanemia UMLS UMLS:C1833562,UMLS:C2931837 inexact +MONDO:0010907 familial hypertryptophanemia http http://identifiers.org/hgnc/11708 disease_has_basis_in_dysfunction_of MONDO:0010908 loose anagen syndrome GARD GARD:0003287 one_to_one MONDO:0010908 loose anagen syndrome ICD10 ICD10:L65.1 one_to_one MONDO:0010908 loose anagen syndrome ICD9 ICD9:704.8 inexact @@ -64067,6 +65897,7 @@ MONDO:0010908 loose anagen syndrome UMLS UMLS:C0406468 one_to_one MONDO:0010909 UV-sensitive syndrome 1 MONDO MONDO:0015797 subclass MONDO:0010909 UV-sensitive syndrome 1 OMIM OMIM:600630 one_to_one MONDO:0010909 UV-sensitive syndrome 1 UMLS UMLS:C3551173 one_to_one +MONDO:0010909 UV-sensitive syndrome 1 http http://identifiers.org/hgnc/3438 disease_has_basis_in_dysfunction_of MONDO:0010910 ENUR1 MONDO MONDO:0000022,MONDO:0003847 subclass MONDO:0010910 ENUR1 OMIM OMIM:600631 one_to_one MONDO:0010911 prolactin-producing pituitary gland adenoma DOID DOID:5394 one_to_one @@ -64086,6 +65917,7 @@ MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without e MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement MONDO MONDO:0007614 subclass MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement OMIM OMIM:600638 one_to_one MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement UMLS UMLS:C2748801 one_to_one +MONDO:0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement http http://identifiers.org/hgnc/20772 disease_has_basis_in_dysfunction_of MONDO:0010913 Caroli disease DOID DOID:0050876 one_to_one MONDO:0010913 Caroli disease EFO EFO:1001286 one_to_one MONDO:0010913 Caroli disease GARD GARD:0006002 one_to_one @@ -64104,17 +65936,19 @@ MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile fo MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form OMIM OMIM:600649 one_to_one MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form Orphanet Orphanet:228305 one_to_one MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form UMLS UMLS:C1833511 one_to_one +MONDO:0010914 carnitine palmitoyl transferase II deficiency, severe infantile form http http://identifiers.org/hgnc/2330 disease_has_basis_in_dysfunction_of MONDO:0010915 autosomal dominant nonsyndromic deafness 4A DOID DOID:0110573 one_to_one MONDO:0010915 autosomal dominant nonsyndromic deafness 4A ICD10 ICD10:H90.3 inexact MONDO:0010915 autosomal dominant nonsyndromic deafness 4A MESH MESH:C563460 one_to_one MONDO:0010915 autosomal dominant nonsyndromic deafness 4A MONDO MONDO:0019587 subclass -MONDO:0010915 autosomal dominant nonsyndromic deafness 4A NCBIGene NCBIGene:79784 disease_has_basis_in_dysfunction_of MONDO:0010915 autosomal dominant nonsyndromic deafness 4A OMIM OMIM:600652 one_to_one MONDO:0010915 autosomal dominant nonsyndromic deafness 4A UMLS UMLS:C1833503 one_to_one +MONDO:0010915 autosomal dominant nonsyndromic deafness 4A http http://identifiers.org/hgnc/23212 disease_has_basis_in_dysfunction_of MONDO:0010916 polycystic kidney disease 3 DOID DOID:0110860 one_to_one MONDO:0010916 polycystic kidney disease 3 MONDO MONDO:0004691 subclass MONDO:0010916 polycystic kidney disease 3 OMIM OMIM:600666 one_to_one MONDO:0010916 polycystic kidney disease 3 UMLS UMLS:C3887964 one_to_one +MONDO:0010916 polycystic kidney disease 3 http http://identifiers.org/hgnc/4138 disease_has_basis_in_dysfunction_of MONDO:0010917 CCAL1 GARD GARD:0006048 one_to_one MONDO:0010917 CCAL1 MESH MESH:C535938 one_to_one MONDO:0010917 CCAL1 MONDO MONDO:0007319 subclass @@ -64175,10 +66009,10 @@ MONDO:0010926 familial hypocalciuric hypercalcemia 3 GARD GARD:0002878 one_to_on MONDO:0010926 familial hypocalciuric hypercalcemia 3 ICD10 ICD10:E83.5 inexact MONDO:0010926 familial hypocalciuric hypercalcemia 3 MESH MESH:C537147 one_to_one MONDO:0010926 familial hypocalciuric hypercalcemia 3 MONDO MONDO:0018458 subclass -MONDO:0010926 familial hypocalciuric hypercalcemia 3 NCBIGene NCBIGene:1175 disease_has_basis_in_dysfunction_of MONDO:0010926 familial hypocalciuric hypercalcemia 3 OMIM OMIM:600740 one_to_one MONDO:0010926 familial hypocalciuric hypercalcemia 3 Orphanet Orphanet:101050 one_to_one 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 OMIM OMIM:600757 one_to_one @@ -64191,6 +66025,7 @@ MONDO:0010928 dwarfism, familial, with muscle spasms UMLS UMLS:C1833341 one_to_o MONDO:0010929 craniosynostosis 4 MONDO MONDO:0015469 subclass MONDO:0010929 craniosynostosis 4 OMIM OMIM:600775 one_to_one MONDO:0010929 craniosynostosis 4 UMLS UMLS:C3806917 one_to_one +MONDO:0010929 craniosynostosis 4 http http://identifiers.org/hgnc/3444 disease_has_basis_in_dysfunction_of MONDO:0010930 anophthalmia plus syndrome GARD GARD:0000719 one_to_one MONDO:0010930 anophthalmia plus syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010930 anophthalmia plus syndrome MESH MESH:C537767 one_to_one @@ -64216,16 +66051,18 @@ MONDO:0010933 autosomal recessive nonsyndromic deafness 4 HP HP:0011387 disease_ MONDO:0010933 autosomal recessive nonsyndromic deafness 4 ICD10 ICD10:H90.3 inexact MONDO:0010933 autosomal recessive nonsyndromic deafness 4 MESH MESH:C566366 one_to_one MONDO:0010933 autosomal recessive nonsyndromic deafness 4 MONDO MONDO:0019588 subclass -MONDO:0010933 autosomal recessive nonsyndromic deafness 4 NCBIGene NCBIGene:2299,NCBIGene:3766,NCBIGene:5172 disease_has_basis_in_dysfunction_of MONDO:0010933 autosomal recessive nonsyndromic deafness 4 OMIM OMIM:600791 one_to_one +MONDO:0010933 autosomal recessive nonsyndromic deafness 4 http http://identifiers.org/hgnc/3815,http://identifiers.org/hgnc/6256,http://identifiers.org/hgnc/8818 disease_has_basis_in_dysfunction_of MONDO:0010935 neuronopathy, distal hereditary motor, type 5A MONDO MONDO:0000075,MONDO:0015353,MONDO:0024237 subclass MONDO:0010935 neuronopathy, distal hereditary motor, type 5A OMIM OMIM:600794 one_to_one +MONDO:0010935 neuronopathy, distal hereditary motor, type 5A http http://identifiers.org/hgnc/15832,http://identifiers.org/hgnc/4162 disease_has_basis_in_dysfunction_of MONDO:0010936 frontotemporal dementia, chromosome 3-linked ICD9 ICD9:331.19 one_to_one MONDO:0010936 frontotemporal dementia, chromosome 3-linked MESH MESH:C579991 one_to_one MONDO:0010936 frontotemporal dementia, chromosome 3-linked MONDO MONDO:0017160 subclass MONDO:0010936 frontotemporal dementia, chromosome 3-linked OMIM OMIM:600795 one_to_one MONDO:0010936 frontotemporal dementia, chromosome 3-linked SCTID SCTID:702393003 one_to_one MONDO:0010936 frontotemporal dementia, chromosome 3-linked UMLS UMLS:C1833296 one_to_one +MONDO:0010936 frontotemporal dementia, chromosome 3-linked http http://identifiers.org/hgnc/24537 disease_has_basis_in_dysfunction_of MONDO:0010937 isoproterenol-mediated vasodilatation MONDO MONDO:0003847 subclass MONDO:0010937 isoproterenol-mediated vasodilatation OMIM OMIM:600801 one_to_one MONDO:0010937 isoproterenol-mediated vasodilatation UMLS UMLS:C1833276 one_to_one @@ -64236,14 +66073,17 @@ MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency OMIM MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency Orphanet Orphanet:35078 one_to_one MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency SCTID SCTID:718107000 one_to_one MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency UMLS UMLS:C1833275,UMLS:C4273742 inexact +MONDO:0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency http http://identifiers.org/hgnc/6193 disease_has_basis_in_dysfunction_of MONDO:0010939 low phospholipid associated cholelithiasis MONDO MONDO:0002155,MONDO:0015509 subclass MONDO:0010939 low phospholipid associated cholelithiasis MedDRA MedDRA:10068936 one_to_one MONDO:0010939 low phospholipid associated cholelithiasis OMIM OMIM:600803 one_to_one MONDO:0010939 low phospholipid associated cholelithiasis Orphanet Orphanet:69663 one_to_one MONDO:0010939 low phospholipid associated cholelithiasis SCTID SCTID:715577009 one_to_one MONDO:0010939 low phospholipid associated cholelithiasis UMLS UMLS:C2609268 one_to_one +MONDO:0010939 low phospholipid associated cholelithiasis http http://identifiers.org/hgnc/45 disease_has_basis_in_dysfunction_of MONDO:0010940 inherited susceptibility to asthma MONDO MONDO:0003847,MONDO:0004979 subclass MONDO:0010940 inherited susceptibility to asthma OMIM OMIM:600807 one_to_one +MONDO:0010940 inherited susceptibility to asthma http http://identifiers.org/hgnc/10610,http://identifiers.org/hgnc/11892,http://identifiers.org/hgnc/17024,http://identifiers.org/hgnc/18391,http://identifiers.org/hgnc/286,http://identifiers.org/hgnc/435,http://identifiers.org/hgnc/4964,http://identifiers.org/hgnc/5028,http://identifiers.org/hgnc/5973,http://identifiers.org/hgnc/7518,http://identifiers.org/hgnc/9040 disease_has_basis_in_dysfunction_of MONDO:0010941 nocturnal enuresis, 2 MESH MESH:C563439 one_to_one MONDO:0010941 nocturnal enuresis, 2 MONDO MONDO:0000022,MONDO:0003847 subclass MONDO:0010941 nocturnal enuresis, 2 OMIM OMIM:600808 one_to_one @@ -64252,6 +66092,7 @@ MONDO:0010943 schizophrenia 4 DOID DOID:0070080 one_to_one MONDO:0010943 schizophrenia 4 MONDO MONDO:0005090 subclass MONDO:0010943 schizophrenia 4 OMIM OMIM:600850 one_to_one MONDO:0010943 schizophrenia 4 UMLS UMLS:C1833247 one_to_one +MONDO:0010943 schizophrenia 4 http http://identifiers.org/hgnc/9453 disease_has_basis_in_dysfunction_of MONDO:0010944 mitochondrial import-stimulating factor MONDO MONDO:0003847 subclass MONDO:0010944 mitochondrial import-stimulating factor OMIM OMIM:600851 one_to_one MONDO:0010945 retinitis pigmentosa 17 DOID DOID:0110404 one_to_one @@ -64259,15 +66100,15 @@ MONDO:0010945 retinitis pigmentosa 17 GARD GARD:0010387 one_to_one MONDO:0010945 retinitis pigmentosa 17 ICD10 ICD10:H35.5 inexact MONDO:0010945 retinitis pigmentosa 17 MESH MESH:C563437 one_to_one MONDO:0010945 retinitis pigmentosa 17 MONDO MONDO:0019200 subclass -MONDO:0010945 retinitis pigmentosa 17 NCBIGene NCBIGene:762 disease_has_basis_in_dysfunction_of MONDO:0010945 retinitis pigmentosa 17 OMIM OMIM:600852 one_to_one MONDO:0010945 retinitis pigmentosa 17 UMLS UMLS:C1833245 one_to_one +MONDO:0010945 retinitis pigmentosa 17 http http://identifiers.org/hgnc/1375 disease_has_basis_in_dysfunction_of MONDO:0010946 hypertrophic cardiomyopathy 6 DOID DOID:0110312 one_to_one MONDO:0010946 hypertrophic cardiomyopathy 6 MESH MESH:C563436 one_to_one MONDO:0010946 hypertrophic cardiomyopathy 6 MONDO MONDO:0005045,MONDO:0024573 subclass -MONDO:0010946 hypertrophic cardiomyopathy 6 NCBIGene NCBIGene:51422 disease_has_basis_in_dysfunction_of MONDO:0010946 hypertrophic cardiomyopathy 6 OMIM OMIM:600858 one_to_one MONDO:0010946 hypertrophic cardiomyopathy 6 UMLS UMLS:C1833236 one_to_one +MONDO:0010946 hypertrophic cardiomyopathy 6 http http://identifiers.org/hgnc/9386 disease_has_basis_in_dysfunction_of MONDO:0010947 Budd-Chiari syndrome COHD COHD:196715 one_to_one MONDO:0010947 Budd-Chiari syndrome GARD GARD:0005968 one_to_one MONDO:0010947 Budd-Chiari syndrome ICD10 ICD10:I82.0 inexact @@ -64279,12 +66120,14 @@ MONDO:0010947 Budd-Chiari syndrome OMIM OMIM:600880 one_to_one MONDO:0010947 Budd-Chiari syndrome Orphanet Orphanet:131 one_to_one MONDO:0010947 Budd-Chiari syndrome SCTID SCTID:82385007 one_to_one MONDO:0010947 Budd-Chiari syndrome UMLS UMLS:C0856761 one_to_one +MONDO:0010947 Budd-Chiari syndrome http http://identifiers.org/hgnc/3542,http://identifiers.org/hgnc/6192 disease_has_basis_in_dysfunction_of MONDO:0010948 cataract 10 multiple types DOID DOID:0110258 one_to_one MONDO:0010948 cataract 10 multiple types ICD10 ICD10:Q12.0 inexact MONDO:0010948 cataract 10 multiple types MESH MESH:C563435 one_to_one MONDO:0010948 cataract 10 multiple types MONDO MONDO:0011060 subclass MONDO:0010948 cataract 10 multiple types OMIM OMIM:600881 one_to_one MONDO:0010948 cataract 10 multiple types UMLS UMLS:C1833229 one_to_one +MONDO:0010948 cataract 10 multiple types http http://identifiers.org/hgnc/2394 disease_has_basis_in_dysfunction_of MONDO:0010949 Charcot-Marie-tooth disease type 2B DOID DOID:0110159 one_to_one MONDO:0010949 Charcot-Marie-tooth disease type 2B GARD GARD:0009192 one_to_one MONDO:0010949 Charcot-Marie-tooth disease type 2B ICD10 ICD10:G60.0 inexact @@ -64294,6 +66137,7 @@ MONDO:0010949 Charcot-Marie-tooth disease type 2B OMIM OMIM:600882 one_to_one MONDO:0010949 Charcot-Marie-tooth disease type 2B Orphanet Orphanet:99936 one_to_one MONDO:0010949 Charcot-Marie-tooth disease type 2B SCTID SCTID:717008005 one_to_one MONDO:0010949 Charcot-Marie-tooth disease type 2B UMLS UMLS:C1833219 one_to_one +MONDO:0010949 Charcot-Marie-tooth disease type 2B http http://identifiers.org/hgnc/9788 disease_has_basis_in_dysfunction_of MONDO:0010950 type 1 diabetes mellitus 8 DOID DOID:0110747 one_to_one MONDO:0010950 type 1 diabetes mellitus 8 ICD10 ICD10:E10 inexact MONDO:0010950 type 1 diabetes mellitus 8 MESH MESH:C563433 one_to_one @@ -64313,21 +66157,22 @@ MONDO:0010952 hereditary hyperferritinemia with congenital cataracts OMIM OMIM:6 MONDO:0010952 hereditary hyperferritinemia with congenital cataracts Orphanet Orphanet:163 one_to_one MONDO:0010952 hereditary hyperferritinemia with congenital cataracts SCTID SCTID:702398007 one_to_one MONDO:0010952 hereditary hyperferritinemia with congenital cataracts UMLS UMLS:C1833213 one_to_one +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts http http://identifiers.org/hgnc/3999 disease_has_basis_in_dysfunction_of MONDO:0010953 Fanconi anemia complementation group E DOID DOID:0111084 one_to_one MONDO:0010953 Fanconi anemia complementation group E MONDO MONDO:0019391 subclass -MONDO:0010953 Fanconi anemia complementation group E NCBIGene NCBIGene:2178 disease_has_basis_in_dysfunction_of MONDO:0010953 Fanconi anemia complementation group E NCIT NCIT:C125709 one_to_one MONDO:0010953 Fanconi anemia complementation group E OMIM OMIM:600901 one_to_one MONDO:0010953 Fanconi anemia complementation group E UMLS UMLS:C3160739 one_to_one +MONDO:0010953 Fanconi anemia complementation group E http http://identifiers.org/hgnc/3586 disease_has_basis_in_dysfunction_of MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form MESH MESH:C563431 one_to_one MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form MONDO MONDO:0010518 subclass MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form OMIM OMIM:600903 one_to_one MONDO:0010954 Wiskott-Aldrich syndrome, autosomal dominant form UMLS UMLS:C1833170 one_to_one -MONDO:0010955 ectodermal dysplasia with mental retardation and syndactyly GARD GARD:0002052 one_to_one -MONDO:0010955 ectodermal dysplasia with mental retardation and syndactyly MESH MESH:C538018 one_to_one -MONDO:0010955 ectodermal dysplasia with mental retardation and syndactyly MONDO MONDO:0003847 subclass -MONDO:0010955 ectodermal dysplasia with mental retardation and syndactyly OMIM OMIM:600906 one_to_one -MONDO:0010955 ectodermal dysplasia with mental retardation and syndactyly UMLS UMLS:C1833169 one_to_one +MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly GARD GARD:0002052 one_to_one +MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly MESH MESH:C538018 one_to_one +MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly MONDO MONDO:0003847 subclass +MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly OMIM OMIM:600906 one_to_one +MONDO:0010955 ectodermal dysplasia with intellectual disability and syndactyly UMLS UMLS:C1833169 one_to_one MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis GARD GARD:0004801 one_to_one MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis MESH MESH:C563430 one_to_one MONDO:0010956 enamel hypoplasia, cataracts, and aqueductal stenosis MONDO MONDO:0003847 subclass @@ -64340,6 +66185,7 @@ MONDO:0010958 cardiac arrhythmia, ankyrin-b-related GARD GARD:0010432 one_to_one MONDO:0010958 cardiac arrhythmia, ankyrin-b-related MONDO MONDO:0019171 subclass MONDO:0010958 cardiac arrhythmia, ankyrin-b-related OMIM OMIM:600919 one_to_one MONDO:0010958 cardiac arrhythmia, ankyrin-b-related UMLS UMLS:C1970119 one_to_one +MONDO:0010958 cardiac arrhythmia, ankyrin-b-related http http://identifiers.org/hgnc/493 disease_has_basis_in_dysfunction_of MONDO:0010959 van den Ende-Gupta syndrome GARD GARD:0003382 one_to_one MONDO:0010959 van den Ende-Gupta syndrome ICD10 ICD10:Q87.0 inexact MONDO:0010959 van den Ende-Gupta syndrome MESH MESH:C535909 one_to_one @@ -64348,6 +66194,7 @@ MONDO:0010959 van den Ende-Gupta syndrome OMIM OMIM:600920 one_to_one MONDO:0010959 van den Ende-Gupta syndrome Orphanet Orphanet:2460 one_to_one MONDO:0010959 van den Ende-Gupta syndrome SCTID SCTID:719845008 one_to_one MONDO:0010959 van den Ende-Gupta syndrome UMLS UMLS:C1833136 one_to_one +MONDO:0010959 van den Ende-Gupta syndrome http http://identifiers.org/hgnc/19869 disease_has_basis_in_dysfunction_of MONDO:0010960 protocadherin 3 MONDO MONDO:0003847 subclass MONDO:0010960 protocadherin 3 OMIM OMIM:600931 one_to_one MONDO:0010961 obesity due to prohormone convertase i deficiency ICD10 ICD10:E66.8 inexact @@ -64357,28 +66204,31 @@ MONDO:0010961 obesity due to prohormone convertase i deficiency OMIM OMIM:600955 MONDO:0010961 obesity due to prohormone convertase i deficiency Orphanet Orphanet:71528 one_to_one MONDO:0010961 obesity due to prohormone convertase i deficiency SCTID SCTID:722053001 one_to_one MONDO:0010961 obesity due to prohormone convertase i deficiency UMLS UMLS:C1833053,UMLS:C4302878 inexact +MONDO:0010961 obesity due to prohormone convertase i deficiency http http://identifiers.org/hgnc/8743 disease_has_basis_in_dysfunction_of MONDO:0010962 palmoplantar keratoderma, nonepidermolytic GARD GARD:0005186 one_to_one MONDO:0010962 palmoplantar keratoderma, nonepidermolytic MONDO MONDO:0006588 subclass MONDO:0010962 palmoplantar keratoderma, nonepidermolytic OMIM OMIM:600962 one_to_one +MONDO:0010962 palmoplantar keratoderma, nonepidermolytic http http://identifiers.org/hgnc/6412 disease_has_basis_in_dysfunction_of MONDO:0010963 autosomal dominant nonsyndromic deafness 6 DOID DOID:0110584 one_to_one MONDO:0010963 autosomal dominant nonsyndromic deafness 6 ICD10 ICD10:H90.3 inexact MONDO:0010963 autosomal dominant nonsyndromic deafness 6 MESH MESH:C563421 one_to_one MONDO:0010963 autosomal dominant nonsyndromic deafness 6 MONDO MONDO:0019587 subclass -MONDO:0010963 autosomal dominant nonsyndromic deafness 6 NCBIGene NCBIGene:7466 disease_has_basis_in_dysfunction_of MONDO:0010963 autosomal dominant nonsyndromic deafness 6 OMIM OMIM:600965 one_to_one MONDO:0010963 autosomal dominant nonsyndromic deafness 6 UMLS UMLS:C1833021 one_to_one +MONDO:0010963 autosomal dominant nonsyndromic deafness 6 http http://identifiers.org/hgnc/12762 disease_has_basis_in_dysfunction_of MONDO:0010964 epiphyseal dysplasia, multiple, 3 GARD GARD:0009792 one_to_one MONDO:0010964 epiphyseal dysplasia, multiple, 3 MESH MESH:C535503 one_to_one -MONDO:0010964 epiphyseal dysplasia, multiple, 3 MONDO MONDO:0015627 subclass +MONDO:0010964 epiphyseal dysplasia, multiple, 3 MONDO MONDO:0015627,MONDO:0016648 subclass MONDO:0010964 epiphyseal dysplasia, multiple, 3 OMIM OMIM:600969 one_to_one MONDO:0010964 epiphyseal dysplasia, multiple, 3 UMLS UMLS:C1832998 one_to_one +MONDO:0010964 epiphyseal dysplasia, multiple, 3 http http://identifiers.org/hgnc/2219 disease_has_basis_in_dysfunction_of MONDO:0010965 autosomal recessive nonsyndromic deafness 6 DOID DOID:0110512 one_to_one MONDO:0010965 autosomal recessive nonsyndromic deafness 6 ICD10 ICD10:H90.3 inexact MONDO:0010965 autosomal recessive nonsyndromic deafness 6 MESH MESH:C563418 one_to_one MONDO:0010965 autosomal recessive nonsyndromic deafness 6 MONDO MONDO:0019588 subclass -MONDO:0010965 autosomal recessive nonsyndromic deafness 6 NCBIGene NCBIGene:259236 disease_has_basis_in_dysfunction_of MONDO:0010965 autosomal recessive nonsyndromic deafness 6 OMIM OMIM:600971 one_to_one MONDO:0010965 autosomal recessive nonsyndromic deafness 6 UMLS UMLS:C1832992 one_to_one +MONDO:0010965 autosomal recessive nonsyndromic deafness 6 http http://identifiers.org/hgnc/30800 disease_has_basis_in_dysfunction_of MONDO:0010966 achondrogenesis type IB DOID DOID:0080055 one_to_one MONDO:0010966 achondrogenesis type IB GARD GARD:0000460 one_to_one MONDO:0010966 achondrogenesis type IB ICD10 ICD10:Q77.0 inexact @@ -64386,28 +66236,32 @@ MONDO:0010966 achondrogenesis type IB MONDO MONDO:0000746 disease_has_feature MONDO:0010966 achondrogenesis type IB MONDO MONDO:0015960,MONDO:0019648,MONDO:0019688 subclass MONDO:0010966 achondrogenesis type IB OMIM OMIM:600972 one_to_one MONDO:0010966 achondrogenesis type IB Orphanet Orphanet:93298 one_to_one +MONDO:0010966 achondrogenesis type IB http http://identifiers.org/hgnc/10994 disease_has_basis_in_dysfunction_of MONDO:0010967 autosomal recessive nonsyndromic deafness 7 DOID DOID:0110520 one_to_one MONDO:0010967 autosomal recessive nonsyndromic deafness 7 ICD10 ICD10:H90.3 inexact MONDO:0010967 autosomal recessive nonsyndromic deafness 7 MESH MESH:C563417 one_to_one MONDO:0010967 autosomal recessive nonsyndromic deafness 7 MONDO MONDO:0019588 subclass -MONDO:0010967 autosomal recessive nonsyndromic deafness 7 NCBIGene NCBIGene:117531 disease_has_basis_in_dysfunction_of MONDO:0010967 autosomal recessive nonsyndromic deafness 7 OMIM OMIM:600974 one_to_one MONDO:0010967 autosomal recessive nonsyndromic deafness 7 UMLS UMLS:C1832978 one_to_one +MONDO:0010967 autosomal recessive nonsyndromic deafness 7 http http://identifiers.org/hgnc/16513 disease_has_basis_in_dysfunction_of MONDO:0010968 GLC3B GARD GARD:0002490 one_to_one MONDO:0010968 GLC3B MESH MESH:C536824 one_to_one MONDO:0010968 GLC3B MONDO MONDO:0020366 subclass MONDO:0010968 GLC3B OMIM OMIM:600975 one_to_one MONDO:0010968 GLC3B UMLS UMLS:C1832977 one_to_one +MONDO:0010968 GLC3B http http://identifiers.org/hgnc/11724,http://identifiers.org/hgnc/2597,http://identifiers.org/hgnc/6715 disease_has_basis_in_dysfunction_of MONDO:0010969 cone-rod dystrophy 5 DOID DOID:0111010 one_to_one MONDO:0010969 cone-rod dystrophy 5 GARD GARD:0010655 one_to_one MONDO:0010969 cone-rod dystrophy 5 MESH MESH:C563415 one_to_one MONDO:0010969 cone-rod dystrophy 5 MONDO MONDO:0015993 subclass MONDO:0010969 cone-rod dystrophy 5 OMIM OMIM:600977 one_to_one MONDO:0010969 cone-rod dystrophy 5 UMLS UMLS:C1832976 one_to_one +MONDO:0010969 cone-rod dystrophy 5 http http://identifiers.org/hgnc/21043 disease_has_basis_in_dysfunction_of MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies MESH MESH:C563414 one_to_one MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies MONDO MONDO:0003847 subclass MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies OMIM OMIM:600987 one_to_one MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies UMLS UMLS:C1832950 one_to_one +MONDO:0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies http http://identifiers.org/hgnc/7001 disease_has_basis_in_dysfunction_of MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome GARD GARD:0003005 one_to_one MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome MESH MESH:C535528 one_to_one MONDO:0010971 infundibulopelvic stenosis-multicystic kidney syndrome MONDO MONDO:0019721 subclass @@ -64425,23 +66279,26 @@ MONDO:0010973 autosomal dominant nonsyndromic deafness 5 DOID DOID:0110575 one_t MONDO:0010973 autosomal dominant nonsyndromic deafness 5 ICD10 ICD10:H90.3 inexact MONDO:0010973 autosomal dominant nonsyndromic deafness 5 MESH MESH:C563410 one_to_one MONDO:0010973 autosomal dominant nonsyndromic deafness 5 MONDO MONDO:0019587 subclass -MONDO:0010973 autosomal dominant nonsyndromic deafness 5 NCBIGene NCBIGene:1687 disease_has_basis_in_dysfunction_of MONDO:0010973 autosomal dominant nonsyndromic deafness 5 OMIM OMIM:600994 one_to_one MONDO:0010973 autosomal dominant nonsyndromic deafness 5 UMLS UMLS:C1832932 one_to_one +MONDO:0010973 autosomal dominant nonsyndromic deafness 5 http http://identifiers.org/hgnc/2810 disease_has_basis_in_dysfunction_of MONDO:0010974 nephrotic syndrome, type 2 GARD GARD:0003946 one_to_one -MONDO:0010974 nephrotic syndrome, type 2 MONDO MONDO:0019006 subclass +MONDO:0010974 nephrotic syndrome, type 2 MONDO MONDO:0005377,MONDO:0019006 subclass MONDO:0010974 nephrotic syndrome, type 2 OMIM OMIM:600995 one_to_one +MONDO:0010974 nephrotic syndrome, type 2 http http://identifiers.org/hgnc/13394 disease_has_basis_in_dysfunction_of MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 DOID DOID:0110071 one_to_one MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 ICD10 ICD10:I42.8 inexact MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 MESH MESH:C563409 one_to_one MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 MONDO MONDO:0016342 subclass MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 OMIM OMIM:600996 one_to_one MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 UMLS UMLS:C1832931 one_to_one +MONDO:0010975 arrhythmogenic right ventricular dysplasia 2 http http://identifiers.org/hgnc/10484 disease_has_basis_in_dysfunction_of MONDO:0010976 KRT14-related epidermolysis bullosa simplex ICD10 ICD10:Q81.0 inexact MONDO:0010976 KRT14-related epidermolysis bullosa simplex MESH MESH:C563408 one_to_one MONDO:0010976 KRT14-related epidermolysis bullosa simplex MONDO MONDO:0015551 subclass MONDO:0010976 KRT14-related epidermolysis bullosa simplex OMIM OMIM:601001 one_to_one MONDO:0010976 KRT14-related epidermolysis bullosa simplex Orphanet Orphanet:89838 one_to_one +MONDO:0010976 KRT14-related epidermolysis bullosa simplex http http://identifiers.org/hgnc/6416,http://identifiers.org/hgnc/6442 disease_has_basis_in_dysfunction_of MONDO:0010977 Brody myopathy DOID DOID:0050692 one_to_one MONDO:0010977 Brody myopathy GARD GARD:0009158 one_to_one MONDO:0010977 Brody myopathy ICD10 ICD10:G71.8 inexact @@ -64452,6 +66309,7 @@ MONDO:0010977 Brody myopathy OMIM OMIM:601003 one_to_one MONDO:0010977 Brody myopathy Orphanet Orphanet:53347 one_to_one MONDO:0010977 Brody myopathy SCTID SCTID:703530005 one_to_one MONDO:0010977 Brody myopathy UMLS UMLS:C1832918 one_to_one +MONDO:0010977 Brody myopathy http http://identifiers.org/hgnc/811 disease_has_basis_in_dysfunction_of MONDO:0010978 portal vein, cavernous transformation of MESH MESH:C563407 one_to_one MONDO:0010978 portal vein, cavernous transformation of MONDO MONDO:0003847 subclass MONDO:0010978 portal vein, cavernous transformation of OMIM OMIM:601004 one_to_one @@ -64467,9 +66325,11 @@ MONDO:0010979 Timothy syndrome NCIT NCIT:C142894 one_to_one MONDO:0010979 Timothy syndrome OMIM OMIM:601005 one_to_one MONDO:0010979 Timothy syndrome Orphanet Orphanet:65283 one_to_one MONDO:0010979 Timothy syndrome UMLS UMLS:C1832916 one_to_one +MONDO:0010979 Timothy syndrome http http://identifiers.org/hgnc/1390 disease_has_basis_in_dysfunction_of MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism MESH MESH:C536177 one_to_one MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism MONDO MONDO:0003847 subclass MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism OMIM OMIM:601016 one_to_one +MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism Orphanet Orphanet:1678 one_to_one MONDO:0010980 midline malformations, multiple, with limb abnormalities and hypopituitarism UMLS UMLS:C1832874 one_to_one MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome GARD GARD:0005210 one_to_one MONDO:0010981 absent tibia-polydactyly-arachnoid cyst syndrome MESH MESH:C563403 one_to_one @@ -64494,6 +66354,7 @@ MONDO:0010984 Usher syndrome type 1D GARD GARD:0005438 one_to_one MONDO:0010984 Usher syndrome type 1D ICD10 ICD10:H35.5 inexact MONDO:0010984 Usher syndrome type 1D MONDO MONDO:0010168 subclass MONDO:0010984 Usher syndrome type 1D OMIM OMIM:601067 one_to_one +MONDO:0010984 Usher syndrome type 1D http http://identifiers.org/hgnc/13733,http://identifiers.org/hgnc/14674 disease_has_basis_in_dysfunction_of MONDO:0010985 FAME1 MESH MESH:C563399 one_to_one MONDO:0010985 FAME1 MONDO MONDO:0000160,MONDO:0019448 subclass MONDO:0010985 FAME1 OMIM OMIM:601068 one_to_one @@ -64501,8 +66362,8 @@ MONDO:0010985 FAME1 UMLS UMLS:C1832841 one_to_one MONDO:0010986 autosomal recessive nonsyndromic deafness 9 DOID DOID:0110535 one_to_one MONDO:0010986 autosomal recessive nonsyndromic deafness 9 ICD10 ICD10:H90.3 inexact MONDO:0010986 autosomal recessive nonsyndromic deafness 9 MONDO MONDO:0019588,MONDO:0021944 subclass -MONDO:0010986 autosomal recessive nonsyndromic deafness 9 NCBIGene NCBIGene:9381 disease_has_basis_in_dysfunction_of MONDO:0010986 autosomal recessive nonsyndromic deafness 9 OMIM OMIM:601071 one_to_one +MONDO:0010986 autosomal recessive nonsyndromic deafness 9 http http://identifiers.org/hgnc/8515 disease_has_basis_in_dysfunction_of MONDO:0010987 autosomal recessive nonsyndromic deafness 8 DOID DOID:0110527 one_to_one MONDO:0010987 autosomal recessive nonsyndromic deafness 8 ICD10 ICD10:H90.3 inexact MONDO:0010987 autosomal recessive nonsyndromic deafness 8 MONDO MONDO:0019588 subclass @@ -64533,6 +66394,7 @@ MONDO:0010992 AymC)-Gripp syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:00195 MONDO:0010992 AymC)-Gripp syndrome OMIM OMIM:601088 one_to_one MONDO:0010992 AymC)-Gripp syndrome Orphanet Orphanet:477668 one_to_one MONDO:0010992 AymC)-Gripp syndrome UMLS UMLS:C1832812 one_to_one +MONDO:0010992 AymC)-Gripp syndrome http http://identifiers.org/hgnc/6776 disease_has_basis_in_dysfunction_of 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 @@ -64554,10 +66416,10 @@ MONDO:0010995 Charcot-Marie-tooth disease type 1C GARD GARD:0001247 one_to_one MONDO:0010995 Charcot-Marie-tooth disease type 1C ICD10 ICD10:G60.0 inexact MONDO:0010995 Charcot-Marie-tooth disease type 1C MESH MESH:C537984 one_to_one MONDO:0010995 Charcot-Marie-tooth disease type 1C MONDO MONDO:0019011 subclass -MONDO:0010995 Charcot-Marie-tooth disease type 1C NCBIGene NCBIGene:9516 disease_has_basis_in_dysfunction_of MONDO:0010995 Charcot-Marie-tooth disease type 1C OMIM OMIM:601098 one_to_one MONDO:0010995 Charcot-Marie-tooth disease type 1C Orphanet Orphanet:101083 one_to_one MONDO:0010995 Charcot-Marie-tooth disease type 1C UMLS UMLS:C0270913 one_to_one +MONDO:0010995 Charcot-Marie-tooth disease type 1C http http://identifiers.org/hgnc/16841 disease_has_basis_in_dysfunction_of MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 GARD GARD:0009902 one_to_one MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 MESH MESH:C537140 one_to_one MONDO:0010996 hereditary hemorrhagic telangiectasia type 3 MONDO MONDO:0019180 subclass @@ -64567,6 +66429,7 @@ MONDO:0010997 classic progressive supranuclear palsy syndrome MONDO MONDO:001903 MONDO:0010997 classic progressive supranuclear palsy syndrome OMIM OMIM:601104 one_to_one MONDO:0010997 classic progressive supranuclear palsy syndrome Orphanet Orphanet:240071 one_to_one MONDO:0010997 classic progressive supranuclear palsy syndrome UMLS UMLS:CN201679 one_to_one +MONDO:0010997 classic progressive supranuclear palsy syndrome http http://identifiers.org/hgnc/6893 disease_has_basis_in_dysfunction_of MONDO:0010998 ALG3-CDG GARD GARD:0009827 one_to_one MONDO:0010998 ALG3-CDG ICD10 ICD10:E77.8 inexact MONDO:0010998 ALG3-CDG MESH MESH:C535742 one_to_one @@ -64576,6 +66439,7 @@ MONDO:0010998 ALG3-CDG OMIM OMIM:601110 one_to_one MONDO:0010998 ALG3-CDG Orphanet Orphanet:79321 one_to_one MONDO:0010998 ALG3-CDG SCTID SCTID:720976009 one_to_one MONDO:0010998 ALG3-CDG UMLS UMLS:C1832736 one_to_one +MONDO:0010998 ALG3-CDG http http://identifiers.org/hgnc/23056 disease_has_basis_in_dysfunction_of 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 @@ -64588,17 +66452,19 @@ MONDO:0011000 guanylate cyclase 2E OMIM OMIM:601138 one_to_one MONDO:0011001 Brugada syndrome 1 DOID DOID:0110218 one_to_one MONDO:0011001 Brugada syndrome 1 ICD10 ICD10:I49.8 inexact MONDO:0011001 Brugada syndrome 1 MONDO MONDO:0015263 subclass -MONDO:0011001 Brugada syndrome 1 NCBIGene NCBIGene:6331 disease_has_basis_in_dysfunction_of MONDO:0011001 Brugada syndrome 1 OMIM OMIM:601144 one_to_one MONDO:0011001 Brugada syndrome 1 UMLS UMLS:CN029323 one_to_one +MONDO:0011001 Brugada syndrome 1 http http://identifiers.org/hgnc/10593 disease_has_basis_in_dysfunction_of MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A MONDO MONDO:0002316,MONDO:0019551 subclass MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A OMIM OMIM:601152 one_to_one +MONDO:0011002 neuropathy, hereditary motor and sensory, type 6A http http://identifiers.org/hgnc/16877 disease_has_basis_in_dysfunction_of MONDO:0011003 dilated cardiomyopathy 1E DOID DOID:0110433 one_to_one MONDO:0011003 dilated cardiomyopathy 1E ICD10 ICD10:I42.0 inexact MONDO:0011003 dilated cardiomyopathy 1E MESH MESH:C563384 one_to_one MONDO:0011003 dilated cardiomyopathy 1E MONDO MONDO:0015470 subclass MONDO:0011003 dilated cardiomyopathy 1E OMIM OMIM:601154 one_to_one MONDO:0011003 dilated cardiomyopathy 1E UMLS UMLS:C1832680 one_to_one +MONDO:0011003 dilated cardiomyopathy 1E http http://identifiers.org/hgnc/10593 disease_has_basis_in_dysfunction_of MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome ICD10 ICD10:Q04.3 inexact MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome MESH MESH:C563383 one_to_one MONDO:0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome MONDO MONDO:0015148 subclass @@ -64644,6 +66510,7 @@ MONDO:0011010 Matthew-wood syndrome OMIM OMIM:601186 one_to_one MONDO:0011010 Matthew-wood syndrome Orphanet Orphanet:2470 one_to_one MONDO:0011010 Matthew-wood syndrome SCTID SCTID:722458000 one_to_one MONDO:0011010 Matthew-wood syndrome UMLS UMLS:C1832661 one_to_one +MONDO:0011010 Matthew-wood syndrome http http://identifiers.org/hgnc/30650 disease_has_basis_in_dysfunction_of 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 @@ -64662,9 +66529,10 @@ MONDO:0011012 African iron overload Orphanet Orphanet:139507 one_to_one MONDO:0011012 African iron overload SCTID SCTID:66576001 one_to_one MONDO:0011013 autosomal dominant hypocalcemia 1 DOID DOID:0090107 one_to_one MONDO:0011013 autosomal dominant hypocalcemia 1 MONDO MONDO:0018543 subclass -MONDO:0011013 autosomal dominant hypocalcemia 1 NCBIGene NCBIGene:846 disease_has_basis_in_dysfunction_of MONDO:0011013 autosomal dominant hypocalcemia 1 OMIM OMIM:601198 one_to_one +MONDO:0011013 autosomal dominant hypocalcemia 1 http http://identifiers.org/hgnc/1514 disease_has_basis_in_dysfunction_of MONDO:0011014 pleuropulmonary blastoma DOID DOID:4769 one_to_one +MONDO:0011014 pleuropulmonary blastoma EFO EFO:0009052 one_to_one MONDO:0011014 pleuropulmonary blastoma GARD GARD:0008757 one_to_one MONDO:0011014 pleuropulmonary blastoma HP HP:0011463 has_modifier MONDO:0011014 pleuropulmonary blastoma ICD10 ICD10:C34.1,ICD10:C34.2,ICD10:C34.3,ICD10:C34.9 inexact @@ -64679,6 +66547,7 @@ MONDO:0011014 pleuropulmonary blastoma ONCOTREE ONCOTREE:PPB one_to_one MONDO:0011014 pleuropulmonary blastoma Orphanet Orphanet:64742 one_to_one MONDO:0011014 pleuropulmonary blastoma SCTID SCTID:707670009 one_to_one MONDO:0011014 pleuropulmonary blastoma UMLS UMLS:C1266144,UMLS:CN072455 inexact +MONDO:0011014 pleuropulmonary blastoma http http://identifiers.org/hgnc/17098 disease_has_basis_in_dysfunction_of MONDO:0011015 cataract 24 DOID DOID:0110257 one_to_one MONDO:0011015 cataract 24 ICD10 ICD10:Q12.0 inexact MONDO:0011015 cataract 24 MESH MESH:C537774 one_to_one @@ -64699,6 +66568,7 @@ MONDO:0011017 Naxos disease OMIM OMIM:601214 one_to_one MONDO:0011017 Naxos disease Orphanet Orphanet:34217 one_to_one MONDO:0011017 Naxos disease SCTID SCTID:715535009 one_to_one MONDO:0011017 Naxos disease UMLS UMLS:C1832600 one_to_one +MONDO:0011017 Naxos disease http http://identifiers.org/hgnc/6207 disease_has_basis_in_dysfunction_of MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome DOID DOID:0090143 one_to_one MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome GARD GARD:0005478,GARD:5478 inexact MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome ICD10 ICD10:Q76.3 inexact @@ -64706,6 +66576,7 @@ MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome MONDO MONDO:0015336,M MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome OMIM OMIM:601216 one_to_one MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome Orphanet Orphanet:2899 one_to_one MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome SCTID SCTID:716195006 one_to_one +MONDO:0011018 brachyolmia-amelogenesis imperfecta syndrome http http://identifiers.org/hgnc/6716 disease_has_basis_in_dysfunction_of MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MESH MESH:C563370 one_to_one MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome MONDO MONDO:0004907 subclass MONDO:0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome OMIM OMIM:601217 one_to_one @@ -64749,17 +66620,19 @@ MONDO:0011025 Cayman type cerebellar ataxia OMIM OMIM:601238 one_to_one MONDO:0011025 Cayman type cerebellar ataxia Orphanet Orphanet:94122 one_to_one MONDO:0011025 Cayman type cerebellar ataxia SCTID SCTID:717332007 one_to_one MONDO:0011025 Cayman type cerebellar ataxia UMLS UMLS:C1832585 one_to_one +MONDO:0011025 Cayman type cerebellar ataxia http http://identifiers.org/hgnc/779 disease_has_basis_in_dysfunction_of MONDO:0011026 autosomal recessive congenital ichthyosis 4A DOID DOID:0060712 one_to_one MONDO:0011026 autosomal recessive congenital ichthyosis 4A GARD GARD:0009733 one_to_one MONDO:0011026 autosomal recessive congenital ichthyosis 4A ICD10 ICD10:Q80.2 inexact MONDO:0011026 autosomal recessive congenital ichthyosis 4A MESH MESH:C537264 one_to_one MONDO:0011026 autosomal recessive congenital ichthyosis 4A MONDO MONDO:0017265,MONDO:0017778 subclass -MONDO:0011026 autosomal recessive congenital ichthyosis 4A NCBIGene NCBIGene:26154 disease_has_basis_in_dysfunction_of MONDO:0011026 autosomal recessive congenital ichthyosis 4A OMIM OMIM:601277 one_to_one +MONDO:0011026 autosomal recessive congenital ichthyosis 4A http http://identifiers.org/hgnc/14637 disease_has_basis_in_dysfunction_of MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 MESH MESH:C563359 one_to_one MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 MONDO MONDO:0005148,MONDO:0019052 subclass MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 OMIM OMIM:601283 one_to_one MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 UMLS UMLS:C1832544 one_to_one +MONDO:0011027 diabetes mellitus, noninsulin-dependent, 1 http http://identifiers.org/hgnc/1477 disease_has_basis_in_dysfunction_of MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F DOID DOID:0110280 one_to_one MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F GARD GARD:0008573 one_to_one MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F ICD10 ICD10:G71.0 inexact @@ -64768,6 +66641,7 @@ MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F MONDO M MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F OMIM OMIM:601287 one_to_one MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F Orphanet Orphanet:219 one_to_one MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F SCTID SCTID:718177001 one_to_one +MONDO:0011028 autosomal recessive limb-girdle muscular dystrophy type 2F http http://identifiers.org/hgnc/10807 disease_has_basis_in_dysfunction_of MONDO:0011029 myeloid tumor suppressor MONDO MONDO:0003847 subclass MONDO:0011029 myeloid tumor suppressor OMIM OMIM:601308 one_to_one MONDO:0011030 epithelial basolateral chloride conductance regulator, rabbit, homolog of MONDO MONDO:0003847 subclass @@ -64776,16 +66650,16 @@ MONDO:0011031 autosomal dominant nonsyndromic deafness 10 DOID DOID:0110542 one_ MONDO:0011031 autosomal dominant nonsyndromic deafness 10 ICD10 ICD10:H90.3 inexact MONDO:0011031 autosomal dominant nonsyndromic deafness 10 MESH MESH:C563354 one_to_one MONDO:0011031 autosomal dominant nonsyndromic deafness 10 MONDO MONDO:0019587 subclass -MONDO:0011031 autosomal dominant nonsyndromic deafness 10 NCBIGene NCBIGene:2070 disease_has_basis_in_dysfunction_of MONDO:0011031 autosomal dominant nonsyndromic deafness 10 OMIM OMIM:601316 one_to_one MONDO:0011031 autosomal dominant nonsyndromic deafness 10 UMLS UMLS:C1832476 one_to_one +MONDO:0011031 autosomal dominant nonsyndromic deafness 10 http http://identifiers.org/hgnc/3522 disease_has_basis_in_dysfunction_of MONDO:0011032 autosomal dominant nonsyndromic deafness 11 DOID DOID:0110543 one_to_one MONDO:0011032 autosomal dominant nonsyndromic deafness 11 ICD10 ICD10:H90.3 inexact MONDO:0011032 autosomal dominant nonsyndromic deafness 11 MESH MESH:C563353 one_to_one MONDO:0011032 autosomal dominant nonsyndromic deafness 11 MONDO MONDO:0019587 subclass -MONDO:0011032 autosomal dominant nonsyndromic deafness 11 NCBIGene NCBIGene:4647 disease_has_basis_in_dysfunction_of MONDO:0011032 autosomal dominant nonsyndromic deafness 11 OMIM OMIM:601317 one_to_one MONDO:0011032 autosomal dominant nonsyndromic deafness 11 UMLS UMLS:C1832475 one_to_one +MONDO:0011032 autosomal dominant nonsyndromic deafness 11 http http://identifiers.org/hgnc/7606 disease_has_basis_in_dysfunction_of MONDO:0011033 type 1 diabetes mellitus 13 DOID DOID:0110752 one_to_one MONDO:0011033 type 1 diabetes mellitus 13 ICD10 ICD10:E10 inexact MONDO:0011033 type 1 diabetes mellitus 13 MESH MESH:C563352 one_to_one @@ -64805,6 +66679,7 @@ MONDO:0011035 neurofibromatosis-Noonan syndrome MONDO MONDO:0019289,MONDO:001930 MONDO:0011035 neurofibromatosis-Noonan syndrome OMIM OMIM:601321 one_to_one MONDO:0011035 neurofibromatosis-Noonan syndrome Orphanet Orphanet:638 one_to_one MONDO:0011035 neurofibromatosis-Noonan syndrome SCTID SCTID:715344006 one_to_one +MONDO:0011035 neurofibromatosis-Noonan syndrome http http://identifiers.org/hgnc/7765 disease_has_basis_in_dysfunction_of MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome GARD GARD:0004437 one_to_one MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome ICD10 ICD10:Q87.8 inexact MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome MESH MESH:C536336 one_to_one @@ -64815,12 +66690,14 @@ MONDO:0011036 porencephaly-cerebellar hypoplasia-internal malformations syndrome MONDO:0011037 renal dysplasia, cystic, susceptibility to GARD GARD:0004658 one_to_one MONDO:0011037 renal dysplasia, cystic, susceptibility to MONDO MONDO:0003847 subclass MONDO:0011037 renal dysplasia, cystic, susceptibility to OMIM OMIM:601331 one_to_one +MONDO:0011037 renal dysplasia, cystic, susceptibility to http http://identifiers.org/hgnc/19351 disease_has_basis_in_dysfunction_of MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome GARD GARD:0001188 one_to_one MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MESH MESH:C535351 one_to_one MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO MONDO:0014720,MONDO:0018609,MONDO:0019589,MONDO:0019792,MONDO:0020142 subclass MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome OMIM OMIM:601338 one_to_one MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Orphanet Orphanet:1171 one_to_one MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome SCTID SCTID:720634003 one_to_one +MONDO:0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome http http://identifiers.org/hgnc/801 disease_has_basis_in_dysfunction_of MONDO:0011039 atrophia maculosa varioliformis cutis, familial MESH MESH:C563349 one_to_one MONDO:0011039 atrophia maculosa varioliformis cutis, familial MONDO MONDO:0003847 subclass MONDO:0011039 atrophia maculosa varioliformis cutis, familial OMIM OMIM:601341 one_to_one @@ -64908,6 +66785,7 @@ MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome OMIM OM 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 MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome UMLS UMLS:C1303073 one_to_one +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome http http://identifiers.org/hgnc/11098 disease_has_basis_in_dysfunction_of MONDO:0011054 autosomal recessive amelia HP HP:0009827 disease_has_feature MONDO:0011054 autosomal recessive amelia ICD10 ICD10:Q73.0 inexact MONDO:0011054 autosomal recessive amelia MESH MESH:C563338 one_to_one @@ -64940,13 +66818,14 @@ MONDO:0011057 cerebrovascular disorder OMIM OMIM:601367 one_to_one MONDO:0011057 cerebrovascular disorder SCTID SCTID:230690007,SCTID:62914000 inexact MONDO:0011057 cerebrovascular disorder UBERON UBERON:0008998 disease_has_location MONDO:0011057 cerebrovascular disorder UMLS UMLS:C0007820 one_to_one +MONDO:0011057 cerebrovascular disorder http http://identifiers.org/hgnc/3535,http://identifiers.org/hgnc/3542,http://identifiers.org/hgnc/436,http://identifiers.org/hgnc/7876,http://identifiers.org/hgnc/9403 disease_has_basis_in_dysfunction_of MONDO:0011058 autosomal dominant nonsyndromic deafness 9 DOID DOID:0110593 one_to_one MONDO:0011058 autosomal dominant nonsyndromic deafness 9 ICD10 ICD10:H90.3 inexact MONDO:0011058 autosomal dominant nonsyndromic deafness 9 MESH MESH:C563335 one_to_one MONDO:0011058 autosomal dominant nonsyndromic deafness 9 MONDO MONDO:0019587 subclass -MONDO:0011058 autosomal dominant nonsyndromic deafness 9 NCBIGene NCBIGene:1690 disease_has_basis_in_dysfunction_of MONDO:0011058 autosomal dominant nonsyndromic deafness 9 OMIM OMIM:601369 one_to_one MONDO:0011058 autosomal dominant nonsyndromic deafness 9 UMLS UMLS:C1832425 one_to_one +MONDO:0011058 autosomal dominant nonsyndromic deafness 9 http http://identifiers.org/hgnc/2180 disease_has_basis_in_dysfunction_of MONDO:0011059 holoprosencephaly-craniosynostosis syndrome GARD GARD:0002454 one_to_one MONDO:0011059 holoprosencephaly-craniosynostosis syndrome ICD10 ICD10:Q04.2 inexact MONDO:0011059 holoprosencephaly-craniosynostosis syndrome MESH MESH:C537684 one_to_one @@ -65002,20 +66881,21 @@ MONDO:0011066 Charcot-Marie-tooth disease type 4B1 OMIM OMIM:601382 one_to_one MONDO:0011066 Charcot-Marie-tooth disease type 4B1 Orphanet Orphanet:99955 one_to_one MONDO:0011066 Charcot-Marie-tooth disease type 4B1 SCTID SCTID:715803003 one_to_one MONDO:0011066 Charcot-Marie-tooth disease type 4B1 UMLS UMLS:C1832399 one_to_one +MONDO:0011066 Charcot-Marie-tooth disease type 4B1 http http://identifiers.org/hgnc/7450 disease_has_basis_in_dysfunction_of MONDO:0011067 autosomal recessive nonsyndromic deafness 12 DOID DOID:0110467 one_to_one MONDO:0011067 autosomal recessive nonsyndromic deafness 12 ICD10 ICD10:H90.3 inexact MONDO:0011067 autosomal recessive nonsyndromic deafness 12 MESH MESH:C563327 one_to_one MONDO:0011067 autosomal recessive nonsyndromic deafness 12 MONDO MONDO:0019588 subclass -MONDO:0011067 autosomal recessive nonsyndromic deafness 12 NCBIGene NCBIGene:491,NCBIGene:64072 disease_has_basis_in_dysfunction_of MONDO:0011067 autosomal recessive nonsyndromic deafness 12 OMIM OMIM:601386 one_to_one MONDO:0011067 autosomal recessive nonsyndromic deafness 12 UMLS UMLS:C1832394 one_to_one +MONDO:0011067 autosomal recessive nonsyndromic deafness 12 http http://identifiers.org/hgnc/13733,http://identifiers.org/hgnc/815 disease_has_basis_in_dysfunction_of MONDO:0011068 type 1 diabetes mellitus 12 DOID DOID:0110751 one_to_one MONDO:0011068 type 1 diabetes mellitus 12 ICD10 ICD10:E10 inexact MONDO:0011068 type 1 diabetes mellitus 12 MESH MESH:C563326 one_to_one MONDO:0011068 type 1 diabetes mellitus 12 MONDO MONDO:0005147 subclass -MONDO:0011068 type 1 diabetes mellitus 12 NCBIGene NCBIGene:1493 disease_has_basis_in_dysfunction_of MONDO:0011068 type 1 diabetes mellitus 12 OMIM OMIM:601388 one_to_one MONDO:0011068 type 1 diabetes mellitus 12 UMLS UMLS:C1832392 one_to_one +MONDO:0011068 type 1 diabetes mellitus 12 http http://identifiers.org/hgnc/2505 disease_has_basis_in_dysfunction_of MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction GARD GARD:0001227 one_to_one MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction MESH MESH:C538072 one_to_one MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction MONDO MONDO:0003847 subclass @@ -65023,13 +66903,15 @@ MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstru MONDO:0011069 cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction UMLS UMLS:C1832391 one_to_one MONDO:0011070 van Maldergem syndrome 1 MONDO MONDO:0017813 subclass MONDO:0011070 van Maldergem syndrome 1 OMIM OMIM:601390 one_to_one +MONDO:0011070 van Maldergem syndrome 1 http http://identifiers.org/hgnc/13681 disease_has_basis_in_dysfunction_of MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome GARD GARD:0010352 one_to_one MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome ICD10 ICD10:D69.4 inexact MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome MESH MESH:C563324 one_to_one -MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome MONDO MONDO:0015356,MONDO:0018796,MONDO:0019041,MONDO:0020118 subclass +MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome MONDO MONDO:0002334,MONDO:0015356,MONDO:0018796,MONDO:0019041,MONDO:0020118 subclass MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome OMIM OMIM:601399 one_to_one MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome Orphanet Orphanet:71290 one_to_one MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome UMLS UMLS:C1832388 one_to_one +MONDO:0011071 hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome http http://identifiers.org/hgnc/10471 disease_has_basis_in_dysfunction_of MONDO:0011072 NIDDM2 MESH MESH:C563323 one_to_one MONDO:0011072 NIDDM2 MONDO MONDO:0005148,MONDO:0019052 subclass MONDO:0011072 NIDDM2 OMIM OMIM:601407 one_to_one @@ -65038,6 +66920,7 @@ MONDO:0011073 diabetes mellitus, transient neonatal, 1 MESH MESH:C563322 one_to_ MONDO:0011073 diabetes mellitus, transient neonatal, 1 MONDO MONDO:0020525 subclass MONDO:0011073 diabetes mellitus, transient neonatal, 1 OMIM OMIM:601410 one_to_one MONDO:0011073 diabetes mellitus, transient neonatal, 1 SCTID SCTID:609579009 one_to_one +MONDO:0011073 diabetes mellitus, transient neonatal, 1 http http://identifiers.org/hgnc/18791,http://identifiers.org/hgnc/5326,http://identifiers.org/hgnc/9046 disease_has_basis_in_dysfunction_of MONDO:0011074 autosomal dominant nonsyndromic deafness 7 DOID DOID:0110591 one_to_one MONDO:0011074 autosomal dominant nonsyndromic deafness 7 ICD10 ICD10:H90.3 inexact MONDO:0011074 autosomal dominant nonsyndromic deafness 7 MESH MESH:C563321 one_to_one @@ -65049,15 +66932,16 @@ MONDO:0011075 retinitis pigmentosa 18 GARD GARD:0010392 one_to_one MONDO:0011075 retinitis pigmentosa 18 ICD10 ICD10:H35.5 inexact MONDO:0011075 retinitis pigmentosa 18 MESH MESH:C563320 one_to_one MONDO:0011075 retinitis pigmentosa 18 MONDO MONDO:0019200 subclass -MONDO:0011075 retinitis pigmentosa 18 NCBIGene NCBIGene:9129 disease_has_basis_in_dysfunction_of MONDO:0011075 retinitis pigmentosa 18 OMIM OMIM:601414 one_to_one MONDO:0011075 retinitis pigmentosa 18 UMLS UMLS:C1832378 one_to_one +MONDO:0011075 retinitis pigmentosa 18 http http://identifiers.org/hgnc/17348 disease_has_basis_in_dysfunction_of MONDO:0011076 myofibrillar myopathy 1 DOID DOID:0080092 one_to_one MONDO:0011076 myofibrillar myopathy 1 ICD10 ICD10:G71.8 inexact MONDO:0011076 myofibrillar myopathy 1 MONDO MONDO:0016108,MONDO:0016112,MONDO:0016187,MONDO:0016334,MONDO:0016340,MONDO:0018943 subclass MONDO:0011076 myofibrillar myopathy 1 OMIM OMIM:601419 one_to_one MONDO:0011076 myofibrillar myopathy 1 Orphanet Orphanet:98909 one_to_one MONDO:0011076 myofibrillar myopathy 1 UMLS UMLS:C1832370 one_to_one +MONDO:0011076 myofibrillar myopathy 1 http http://identifiers.org/hgnc/2770 disease_has_basis_in_dysfunction_of MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate GARD GARD:0003614 one_to_one MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate MESH MESH:C537547 one_to_one MONDO:0011077 microcephaly, corpus callosum dysgenesis, and cleft lip/palate MONDO MONDO:0003847 subclass @@ -65091,20 +66975,20 @@ MONDO:0011081 dislocation of the hip-dysmorphism syndrome MONDO MONDO:0043008 su MONDO:0011081 dislocation of the hip-dysmorphism syndrome OMIM OMIM:601450 one_to_one MONDO:0011081 dislocation of the hip-dysmorphism syndrome Orphanet Orphanet:2412 one_to_one MONDO:0011081 dislocation of the hip-dysmorphism syndrome UMLS UMLS:C1832353 one_to_one -MONDO:0011082 Oculoauriculofrontonasal syndrome GARD GARD:0004031 one_to_one -MONDO:0011082 Oculoauriculofrontonasal syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0011082 Oculoauriculofrontonasal syndrome MESH MESH:C537865 one_to_one -MONDO:0011082 Oculoauriculofrontonasal syndrome MONDO MONDO:0016643 subclass -MONDO:0011082 Oculoauriculofrontonasal syndrome OMIM OMIM:601452 one_to_one -MONDO:0011082 Oculoauriculofrontonasal syndrome Orphanet Orphanet:398156 one_to_one -MONDO:0011082 Oculoauriculofrontonasal syndrome UMLS UMLS:C1832352 one_to_one -MONDO:0011083 Trichodental syndrome GARD GARD:0000265 one_to_one -MONDO:0011083 Trichodental syndrome MESH MESH:C536551 one_to_one -MONDO:0011083 Trichodental syndrome MONDO MONDO:0015336,MONDO:0019282,MONDO:0019287 subclass -MONDO:0011083 Trichodental syndrome OMIM OMIM:601453 one_to_one -MONDO:0011083 Trichodental syndrome Orphanet Orphanet:3351 one_to_one -MONDO:0011083 Trichodental syndrome SCTID SCTID:277810000 one_to_one -MONDO:0011083 Trichodental syndrome UMLS UMLS:C0406724 one_to_one +MONDO:0011082 oculoauriculofrontonasal syndrome GARD GARD:0004031 one_to_one +MONDO:0011082 oculoauriculofrontonasal syndrome ICD10 ICD10:Q87.0 inexact +MONDO:0011082 oculoauriculofrontonasal syndrome MESH MESH:C537865 one_to_one +MONDO:0011082 oculoauriculofrontonasal syndrome MONDO MONDO:0016643 subclass +MONDO:0011082 oculoauriculofrontonasal syndrome OMIM OMIM:601452 one_to_one +MONDO:0011082 oculoauriculofrontonasal syndrome Orphanet Orphanet:398156 one_to_one +MONDO:0011082 oculoauriculofrontonasal syndrome UMLS UMLS:C1832352 one_to_one +MONDO:0011083 trichodental syndrome GARD GARD:0000265 one_to_one +MONDO:0011083 trichodental syndrome MESH MESH:C536551 one_to_one +MONDO:0011083 trichodental syndrome MONDO MONDO:0015336,MONDO:0019282,MONDO:0019287 subclass +MONDO:0011083 trichodental syndrome OMIM OMIM:601453 one_to_one +MONDO:0011083 trichodental syndrome Orphanet Orphanet:3351 one_to_one +MONDO:0011083 trichodental syndrome SCTID SCTID:277810000 one_to_one +MONDO:0011083 trichodental syndrome UMLS UMLS:C0406724 one_to_one MONDO:0011084 PSORS3 MONDO MONDO:0005083,MONDO:0024255 subclass MONDO:0011084 PSORS3 OMIM OMIM:601454 one_to_one MONDO:0011085 Charcot-Marie-tooth disease type 4D DOID DOID:0110186 one_to_one @@ -65116,6 +67000,7 @@ MONDO:0011085 Charcot-Marie-tooth disease type 4D OMIM OMIM:601455 one_to_one MONDO:0011085 Charcot-Marie-tooth disease type 4D Orphanet Orphanet:99950 one_to_one MONDO:0011085 Charcot-Marie-tooth disease type 4D SCTID SCTID:715798007 one_to_one MONDO:0011085 Charcot-Marie-tooth disease type 4D UMLS UMLS:C1832334 one_to_one +MONDO:0011085 Charcot-Marie-tooth disease type 4D http http://identifiers.org/hgnc/7679 disease_has_basis_in_dysfunction_of MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive DOID DOID:0090013 one_to_one MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive GARD GARD:0010339 one_to_one MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ICD10 ICD10:D81.1 inexact @@ -65124,6 +67009,7 @@ MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-nega MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive OMIM OMIM:601457 one_to_one MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive Orphanet Orphanet:331206 one_to_one MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive UMLS UMLS:C1832322 one_to_one +MONDO:0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive http http://identifiers.org/hgnc/9831,http://identifiers.org/hgnc/9832 disease_has_basis_in_dysfunction_of MONDO:0011087 inflammatory bowel disease 2 DOID DOID:0110900 one_to_one MONDO:0011087 inflammatory bowel disease 2 MESH MESH:C563310 one_to_one MONDO:0011087 inflammatory bowel disease 2 MONDO MONDO:0005265 subclass @@ -65131,8 +67017,8 @@ MONDO:0011087 inflammatory bowel disease 2 OMIM OMIM:601458 one_to_one MONDO:0011087 inflammatory bowel disease 2 UMLS UMLS:C1832321 one_to_one MONDO:0011088 congenital myasthenic syndrome 1A DOID DOID:0110663 one_to_one MONDO:0011088 congenital myasthenic syndrome 1A MONDO MONDO:0018940,MONDO:0020344 subclass -MONDO:0011088 congenital myasthenic syndrome 1A NCBIGene NCBIGene:1134 disease_has_basis_in_dysfunction_of MONDO:0011088 congenital myasthenic syndrome 1A OMIM OMIM:601462 one_to_one +MONDO:0011088 congenital myasthenic syndrome 1A http http://identifiers.org/hgnc/1955 disease_has_basis_in_dysfunction_of MONDO:0011089 patent ductus venosus GARD GARD:0010483 one_to_one MONDO:0011089 patent ductus venosus ICD9 ICD9:747.49 inexact MONDO:0011089 patent ductus venosus MESH MESH:C562830 one_to_one @@ -65156,6 +67042,7 @@ MONDO:0011091 Charcot-Marie-tooth disease type 2D OMIM OMIM:601472 one_to_one MONDO:0011091 Charcot-Marie-tooth disease type 2D Orphanet Orphanet:99938 one_to_one MONDO:0011091 Charcot-Marie-tooth disease type 2D SCTID SCTID:717011006 one_to_one MONDO:0011091 Charcot-Marie-tooth disease type 2D UMLS UMLS:C1832274,UMLS:C4274109 inexact +MONDO:0011091 Charcot-Marie-tooth disease type 2D http http://identifiers.org/hgnc/4162 disease_has_basis_in_dysfunction_of MONDO:0011092 ribbing disease GARD GARD:0008494 one_to_one MONDO:0011092 ribbing disease MESH MESH:C537613 one_to_one MONDO:0011092 ribbing disease MONDO MONDO:0003847 subclass @@ -65166,12 +67053,13 @@ MONDO:0011093 mucopolysaccharidosis type 9 GO GO:0004415 disease_has_basis_in_di MONDO:0011093 mucopolysaccharidosis type 9 ICD10 ICD10:E76.2 inexact MONDO:0011093 mucopolysaccharidosis type 9 ICD9 ICD9:277.6 inexact MONDO:0011093 mucopolysaccharidosis type 9 MESH MESH:C563209 one_to_one -MONDO:0011093 mucopolysaccharidosis type 9 MONDO MONDO:0019249,MONDO:0019706,MONDO:0021196 subclass +MONDO:0011093 mucopolysaccharidosis type 9 MONDO MONDO:0019249,MONDO:0019706,MONDO:0044976 subclass MONDO:0011093 mucopolysaccharidosis type 9 NCIT NCIT:C129073 one_to_one MONDO:0011093 mucopolysaccharidosis type 9 OMIM OMIM:601492 one_to_one MONDO:0011093 mucopolysaccharidosis type 9 Orphanet Orphanet:67041 one_to_one MONDO:0011093 mucopolysaccharidosis type 9 SCTID SCTID:124473006 one_to_one MONDO:0011093 mucopolysaccharidosis type 9 UMLS UMLS:C1291490 one_to_one +MONDO:0011093 mucopolysaccharidosis type 9 http http://identifiers.org/hgnc/5320 disease_has_basis_in_dysfunction_of MONDO:0011094 dilated cardiomyopathy 1C DOID DOID:0110423 one_to_one MONDO:0011094 dilated cardiomyopathy 1C ICD10 ICD10:I42.0 inexact MONDO:0011094 dilated cardiomyopathy 1C MESH MESH:C563307 one_to_one @@ -65183,6 +67071,7 @@ MONDO:0011095 dilated cardiomyopathy 1D MESH MESH:C563306 one_to_one MONDO:0011095 dilated cardiomyopathy 1D MONDO MONDO:0015470,MONDO:0018901 subclass MONDO:0011095 dilated cardiomyopathy 1D OMIM OMIM:601494 one_to_one MONDO:0011095 dilated cardiomyopathy 1D UMLS UMLS:C1832243 one_to_one +MONDO:0011095 dilated cardiomyopathy 1D http http://identifiers.org/hgnc/11949 disease_has_basis_in_dysfunction_of MONDO:0011096 autosomal agammaglobulinemia GARD GARD:0009640 one_to_one MONDO:0011096 autosomal agammaglobulinemia ICD10 ICD10:D80.0 inexact MONDO:0011096 autosomal agammaglobulinemia MESH MESH:C538056 one_to_one @@ -65190,6 +67079,7 @@ MONDO:0011096 autosomal agammaglobulinemia MONDO MONDO:0016462 subclass MONDO:0011096 autosomal agammaglobulinemia OMIM OMIM:601495 one_to_one MONDO:0011096 autosomal agammaglobulinemia Orphanet Orphanet:33110 one_to_one MONDO:0011096 autosomal agammaglobulinemia UMLS UMLS:C1832241 one_to_one +MONDO:0011096 autosomal agammaglobulinemia http http://identifiers.org/hgnc/5541 disease_has_basis_in_dysfunction_of MONDO:0011097 Axenfeld-Rieger syndrome type 2 DOID DOID:0110121 one_to_one MONDO:0011097 Axenfeld-Rieger syndrome type 2 ICD10 ICD10:Q13.8 inexact MONDO:0011097 Axenfeld-Rieger syndrome type 2 MESH MESH:C535680 one_to_one @@ -65198,6 +67088,7 @@ MONDO:0011097 Axenfeld-Rieger syndrome type 2 OMIM OMIM:601499 one_to_one MONDO:0011097 Axenfeld-Rieger syndrome type 2 UMLS UMLS:C1832229 one_to_one MONDO:0011098 prostate cancer, hereditary, 1 MONDO MONDO:0023122 subclass MONDO:0011098 prostate cancer, hereditary, 1 OMIM OMIM:601518 one_to_one +MONDO:0011098 prostate cancer, hereditary, 1 http http://identifiers.org/hgnc/10050 disease_has_basis_in_dysfunction_of MONDO:0011099 Athabaskan brainstem dysgenesis syndrome DOID DOID:0050682 one_to_one MONDO:0011099 Athabaskan brainstem dysgenesis syndrome GARD GARD:0008333 one_to_one MONDO:0011099 Athabaskan brainstem dysgenesis syndrome MONDO MONDO:0006025,MONDO:0019589 subclass @@ -65205,6 +67096,7 @@ MONDO:0011099 Athabaskan brainstem dysgenesis syndrome OMIM OMIM:601536 one_to_o MONDO:0011099 Athabaskan brainstem dysgenesis syndrome Orphanet Orphanet:69739 one_to_one MONDO:0011099 Athabaskan brainstem dysgenesis syndrome SCTID SCTID:720518006 one_to_one MONDO:0011099 Athabaskan brainstem dysgenesis syndrome UMLS UMLS:C1832215 one_to_one +MONDO:0011099 Athabaskan brainstem dysgenesis syndrome http http://identifiers.org/hgnc/5099 disease_has_basis_in_dysfunction_of MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract MESH MESH:C563296 one_to_one MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract MONDO MONDO:0003847 subclass MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract OMIM OMIM:601537 one_to_one @@ -65212,21 +67104,22 @@ MONDO:0011100 microcephaly, retinitis pigmentosa, and sutural cataract UMLS UMLS MONDO:0011101 peroxisome biogenesis disorder 1B MONDO MONDO:0019609 subclass MONDO:0011101 peroxisome biogenesis disorder 1B OMIM OMIM:601539 one_to_one MONDO:0011101 peroxisome biogenesis disorder 1B UMLS UMLS:CN168921 one_to_one +MONDO:0011101 peroxisome biogenesis disorder 1B http http://identifiers.org/hgnc/8850 disease_has_basis_in_dysfunction_of MONDO:0011102 autosomal dominant nonsyndromic deafness 12 DOID DOID:0110544 one_to_one MONDO:0011102 autosomal dominant nonsyndromic deafness 12 ICD10 ICD10:H90.3 inexact MONDO:0011102 autosomal dominant nonsyndromic deafness 12 MESH MESH:C563295 one_to_one MONDO:0011102 autosomal dominant nonsyndromic deafness 12 MONDO MONDO:0019587 subclass -MONDO:0011102 autosomal dominant nonsyndromic deafness 12 NCBIGene NCBIGene:7007 disease_has_basis_in_dysfunction_of MONDO:0011102 autosomal dominant nonsyndromic deafness 12 OMIM OMIM:601543 one_to_one MONDO:0011102 autosomal dominant nonsyndromic deafness 12 UMLS UMLS:C1832187 one_to_one +MONDO:0011102 autosomal dominant nonsyndromic deafness 12 http http://identifiers.org/hgnc/11720 disease_has_basis_in_dysfunction_of MONDO:0011103 autosomal dominant nonsyndromic deafness 3A DOID DOID:0110564 one_to_one MONDO:0011103 autosomal dominant nonsyndromic deafness 3A GARD GARD:0009933 one_to_one MONDO:0011103 autosomal dominant nonsyndromic deafness 3A ICD10 ICD10:H90.3 inexact MONDO:0011103 autosomal dominant nonsyndromic deafness 3A MESH MESH:C567277 one_to_one MONDO:0011103 autosomal dominant nonsyndromic deafness 3A MONDO MONDO:0019587 subclass -MONDO:0011103 autosomal dominant nonsyndromic deafness 3A NCBIGene NCBIGene:2706 disease_has_basis_in_dysfunction_of MONDO:0011103 autosomal dominant nonsyndromic deafness 3A OMIM OMIM:601544 one_to_one MONDO:0011103 autosomal dominant nonsyndromic deafness 3A UMLS UMLS:C2675750 one_to_one +MONDO:0011103 autosomal dominant nonsyndromic deafness 3A http http://identifiers.org/hgnc/4284 disease_has_basis_in_dysfunction_of MONDO:0011104 cataract 3 multiple types DOID DOID:0110269 one_to_one MONDO:0011104 cataract 3 multiple types ICD10 ICD10:Q12.0 inexact MONDO:0011104 cataract 3 multiple types MESH MESH:C563294 one_to_one @@ -65234,6 +67127,7 @@ MONDO:0011104 cataract 3 multiple types MONDO MONDO:0011060,MONDO:0015300 exclud MONDO:0011104 cataract 3 multiple types MONDO MONDO:0005129 subclass MONDO:0011104 cataract 3 multiple types OMIM OMIM:601547 one_to_one MONDO:0011104 cataract 3 multiple types UMLS UMLS:C1832175 one_to_one +MONDO:0011104 cataract 3 multiple types http http://identifiers.org/hgnc/2398 disease_has_basis_in_dysfunction_of MONDO:0011105 alacrima, congenital, autosomal recessive MONDO MONDO:0019627 subclass MONDO:0011105 alacrima, congenital, autosomal recessive OMIM OMIM:601549 one_to_one MONDO:0011105 alacrima, congenital, autosomal recessive UMLS UMLS:C4012597 one_to_one @@ -65243,6 +67137,7 @@ MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome OMIM OMIM:601552 one_to_one MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome Orphanet Orphanet:412022 one_to_one MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome UMLS UMLS:C1832167 one_to_one +MONDO:0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome http http://identifiers.org/hgnc/757 disease_has_basis_in_dysfunction_of MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy DOID DOID:0110711 one_to_one 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 @@ -65251,6 +67146,7 @@ MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO MON 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 +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy http http://identifiers.org/hgnc/1762 disease_has_basis_in_dysfunction_of MONDO:0011108 StC a lib:Ontology ; a lib:Virtual ; - owl:imports , , , , , , , . + owl:imports , , , , , , , , . a lib:Ontology ; diff --git a/src/patterns/Makefile b/src/patterns/Makefile index e961fecd6f..2e6fd2c418 100644 --- a/src/patterns/Makefile +++ b/src/patterns/Makefile @@ -55,7 +55,7 @@ lx-$(Ont)-$(P).tsv: # blip-findall -r $(Ont) -r uberonp -u odputil -i disease_patterns.pro -goal "load_onts($(P))" "write_tuple($(P))" -select C-V -no_pred -use_tabs -label > $@.tmp && mv $@.tmp $@ ld-mondo-%.tsv: %.yaml - dosdp-tools --ontology=$(SRCM) --reasoner=elk --obo-prefixes=true --template=$< --outfile=$@.tmp query && ./fix-tsvs.pl $@.tmp > $@ + dosdp-tools --catalog=../ontology/catalog-v001.xml --ontology=$(SRCM) --reasoner=elk --obo-prefixes=true --template=$< --outfile=$@.tmp query && ./fix-tsvs.pl $@.tmp > $@ .PRECIOUS: ld-mondo-%.tsv roundtrip-mondo-%.owl: ld-mondo-%.tsv %.yaml diff --git a/src/patterns/curie_map.yaml b/src/patterns/curie_map.yaml index f2b0fa6473..4b12df0191 100644 --- a/src/patterns/curie_map.yaml +++ b/src/patterns/curie_map.yaml @@ -18,4 +18,5 @@ NCBITaxon: http://purl.obolibrary.org/obo/NCBITaxon_ ENVO: http://purl.obolibrary.org/obo/ENVO_ MF: http://purl.obolibrary.org/obo/MF_ ECTO: http://purl.obolibrary.org/obo/ECTO_ +SO: http://purl.obolibrary.org/obo/SO_ diff --git a/src/plq/mondo_queries.pro b/src/plq/mondo_queries.pro index af6ee8a513..25342fa4ef 100644 --- a/src/plq/mondo_queries.pro +++ b/src/plq/mondo_queries.pro @@ -26,6 +26,9 @@ foo('0'). +call_unique(G) :- setof(G,G,Gs),member(G,Gs). + + mondo(C) :- owl:class(C), uri_prefix(C,'MONDO'). @@ -37,6 +40,7 @@ solutions(X,G,L) :- !. solutions(_,_,[]). +% P is str xref_prefix(C,X,P) :- has_dbxref(C,X), curie_prefix(X,P). diff --git a/src/utils/mk-skos.pl b/src/utils/mk-skos.pl index 62371e6b1a..5699ac4291 100755 --- a/src/utils/mk-skos.pl +++ b/src/utils/mk-skos.pl @@ -1,6 +1,8 @@ #!/usr/bin/perl use strict; my $id; +my %has_exact_map = (); +my @triples = (); while (<>) { if (m@^id:@) { $id = undef; @@ -15,6 +17,15 @@ if ($anns =~ m@equivalentTo@) { $rel = 'exactMatch'; } + elsif ($anns =~ m@equivalentObsolete@) { + $rel = 'exactMatch'; + } + elsif ($anns =~ m@obsoleteEquivalent@) { + $rel = 'exactMatch'; + } + elsif ($anns =~ m@otherHierarchy@) { + $rel = 'exactMatch'; + } elsif ($anns =~ m@subClassOf@) { $rel = 'broadMatch'; } @@ -63,8 +74,20 @@ } if ($uri) { - print "<$id> <$rel> <$uri$x> .\n"; + my $tgt = "$uri$x"; + $has_exact_map{$tgt} = 1 if $rel =~ m@exactMatch@; + push(@triples, [$id, $rel, $tgt]); } } } + +foreach (@triples) { + my ($s,$rel,$o) = @$_; + if ($rel =~ m@exactMatch@ || !$has_exact_map{$o}) { + print "<$s> <$rel> <$o> .\n"; + } + else { + print STDERR "MASKING: $s $rel $o\n"; + } +}