From 907eba203c4de5440b9f2cf0dfe198499ad57574 Mon Sep 17 00:00:00 2001 From: katiermullen <102704401+katiermullen@users.noreply.github.com> Date: Sun, 5 Jan 2025 19:15:03 -0700 Subject: [PATCH] Add non-human animal diseases (#8527) * Add non-human animal diseases Addresses #7271 * update single child exclusions * update whitespace violations * update LF failure * update with requested changes --- src/ontology/mondo-edit.obo | 1054 +++++++++++++++++++++++++++++++++++ 1 file changed, 1054 insertions(+) diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 869617f30a..337be4ec83 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -569780,6 +569780,7 @@ def: "Hereditary severe hyperkeratosis in dogs due to a variation in the TGM1 ge xref: OMIA:000546-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000546-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:000546-9615", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal +is_a: MONDO:1012978 {source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, dog relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403630 {source="OMIA:000546-9615", source="https://orcid.org/0000-0002-5002-8648"} ! TGM1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:000546-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570144,6 +570145,7 @@ def: "Hereditary generalized severe hyperkeratosis with a formation of a strongl xref: OMIA:001973-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001973-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:001973-9615", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal +is_a: MONDO:1012978 {source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, dog relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/491317 {source="OMIA:001973-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SLC27A4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001973-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -570155,6 +570157,7 @@ def: "Hereditary hyperkeratosis characterized by generalized scaling in dogs due xref: OMIA:001980-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001980-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011328 {source="OMIA:001980-9615", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal +is_a: MONDO:1012978 {source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, dog relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/489157 {source="OMIA:001980-9615", source="https://orcid.org/0000-0002-5002-8648"} ! NIPAL4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001980-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -579547,6 +579550,7 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:1011672 name: hydrallantois, non-human animal +def: "A gestational disease affecting pregnant animals characterized by excessive accumulation of fluid within the allantoic cavity and associated with fetal and placental abnormalities and fetal mortality." [PMID:27613513] xref: OMIA:002053 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:002053"} ! non-human animal disease is_a: MONDO:1011313 {source="OMIA:002053", source="https://orcid.org/0000-0002-5002-8648"} ! disorder of development or morphogenesis, non-human animal @@ -579978,7 +579982,9 @@ name: immunoglobulin 7S deficiency, non-human animal xref: OMIA:000551 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:000551"} ! non-human animal disease is_a: MONDO:0700106 {source="OMIA:000551", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal +is_a: MONDO:1011724 {source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] id: MONDO:1011726 @@ -579986,7 +579992,9 @@ name: immunoglobulin A deficiency, non-human animal xref: OMIA:000552 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:000552"} ! non-human animal disease is_a: MONDO:0700106 {source="OMIA:000552", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal +is_a: MONDO:1011724 {source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] id: MONDO:1011727 @@ -579994,7 +580002,9 @@ name: immunoglobulin G deficiency, non-human animal xref: OMIA:000554 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:000554"} ! non-human animal disease is_a: MONDO:0700106 {source="OMIA:000554", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal +is_a: MONDO:1011724 {source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] id: MONDO:1011728 @@ -580002,7 +580012,9 @@ name: immunoglobulin G2 deficiency, non-human animal xref: OMIA:000555 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:000555"} ! non-human animal disease is_a: MONDO:0700106 {source="OMIA:000555", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal +is_a: MONDO:1011724 {source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] id: MONDO:1011729 @@ -580010,7 +580022,9 @@ name: immunoglobulin M deficiency, non-human animal xref: OMIA:000556 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:000556"} ! non-human animal disease is_a: MONDO:0700106 {source="OMIA:000556", source="https://orcid.org/0000-0002-5002-8648"} ! immune system disorder, non-human animal +is_a: MONDO:1011724 {source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] id: MONDO:1011730 @@ -580291,7 +580305,9 @@ name: ichthyosis fetalis, non-human animal xref: OMIA:002193 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:002193"} ! non-human animal disease is_a: MONDO:1011328 {source="OMIA:002193", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal +is_a: MONDO:1011427 {source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, non-human animal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] id: MONDO:1011765 @@ -581599,10 +581615,12 @@ property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/ [Term] id: MONDO:1011928 name: laryngeal paralysis, non-human animal +def: "A respiratory disorder characterized by an inability to abduct the arytenoid cartilages during inspiration resulting in a partial to complete airway obstruction and consequent respiratory distress." [PMID:31647804] xref: OMIA:001206 {source="MONDO:equivalentTo"} is_a: MONDO:0005583 {source="OMIA:001206"} ! non-human animal disease is_a: MONDO:0700104 {source="OMIA:001206", source="https://orcid.org/0000-0002-5002-8648"} ! respiratory system disorder, non-human animal property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7225" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] id: MONDO:1011929 @@ -587209,6 +587227,19 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:000059-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012585 +name: neonatal cerebellar ataxia, GRM1-related, dog +def: "Any cerebellar ataxia that occurs dogs due to a mutation in the GRM1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "ataxia, cerebellar, neonatal, GRM1-related, dog" RELATED [OMIA:000078-9615] +synonym: "Bandera's neonatal ataxia, dog" RELATED [OMIA:000078-9615] +xref: OMIA:000078-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:000078-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012960 {source="OMIA:000078-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/484024 {source="OMIA:000078-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:000078-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012586 name: oculocutaneous albinism, TYR-related, Japanese ratsnake @@ -587425,6 +587456,156 @@ is_a: MONDO:1010842 {source="OMIA:000403-9823", source="https://orcid.org/0000-0 relationship: in_taxon NCBITaxon:9823 {source="OMIA:000403-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012605 +name: glycogen storage disease IV, dog +def: "Any glycogen storage disease that occurs in dogs due to a glycogen branching enzyme (GBE) deficiency." [OMIA:000420-9615] +xref: OMIA:000420-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011419 {source="OMIA:000420-9615", source="https://orcid.org/0000-0002-5002-8648"} ! glycogen storage disease, non-human animal +relationship: in_taxon NCBITaxon:9615 {source="OMIA:000420-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012606 +name: glycogen storage disease IV, domestic cat +def: "Any glycogen storage disease that occurs in cats due to a mutation in the GBE1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "GSD IV" EXACT ABBREVIATION [OMIA:000420-9685] +xref: OMIA:000420-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:000420-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011419 {source="OMIA:000420-9685", source="https://orcid.org/0000-0002-5002-8648"} ! glycogen storage disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/493962 {source="OMIA:000420-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:000420-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012607 +name: glycogen storage disease IV, horse +def: "Any glycogen storage disease that occurs in horses due to a mutation in the GBE1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "GBED" EXACT ABBREVIATION [OMIA:000420-9796] +synonym: "glycogen branching enzyme deficiency, horse" EXACT [OMIA:000420-9796] +synonym: "GSD IV" EXACT ABBREVIATION [OMIA:000420-9796] +xref: OMIA:000420-9796 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:000420-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011419 {source="OMIA:000420-9796", source="https://orcid.org/0000-0002-5002-8648"} ! glycogen storage disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100034152 {source="OMIA:000420-9796", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9796 {source="OMIA:000420-9796"} ! Equus caballus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012608 +name: fasting unconjugated hyperbilirubinemia, Bolivian squirrel monkey +def: "Any unconjugated hyperbilirubinemia due to an increase in the bilirubin turnover/production rate and/or decreased hepatic conjugation during fasting that occurs in Bolivian squirrel monkey." [PMID:1316506] +synonym: "hyperbilirubinaemia I, Bolivian squirrel monkey" RELATED [OMIA:000496-27679] +xref: OMIA:000496-27679 {source="MONDO:equivalentTo"} +is_a: MONDO:1012974 {source="OMIA:000496-27679", source="https://orcid.org/0000-0002-5002-8648"} ! hyperbilirubinemia, non-human animal +relationship: in_taxon NCBITaxon:27679 {source="OMIA:000496-27679"} +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012609 +name: unconjugated hyperbilirubinemia, horse +def: "Unconjugated hyperbilirubinemia that occurs in horses." [MONDO:patterns/nonhuman_disease] +synonym: "hyperbilirubinaemia I, horse" RELATED [OMIA:000496-9796] +xref: OMIA:000496-9796 {source="MONDO:equivalentTo"} +is_a: MONDO:1012974 {source="OMIA:000496-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hyperbilirubinemia, non-human animal +relationship: in_taxon NCBITaxon:9796 {source="OMIA:000496-9796"} ! Equus caballus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012611 +name: conjugated hyperbilirubinemia, sheep +def: "A liver disorder characterized by chronic conjugated hyperbilirubinemia and gross dark brown to black discoloration of the liver that occurs in sheep." [OMIA:000497-9940] +synonym: "hyperbilirubinaemia II, sheep" RELATED [OMIA:000497-9940] +xref: OMIA:000497-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1012967 {source="OMIA:000497-9940", source="https://orcid.org/0000-0002-5002-8648"} ! liver disorder, non-human animal +is_a: MONDO:1012974 {source="OMIA:000497-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hyperbilirubinemia, non-human animal +relationship: in_taxon NCBITaxon:9940 {source="OMIA:000497-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012612 +name: conjugated hyperbilirubinemia, golden lion tamarin +def: "A liver disorder characterized by chronic conjugated hyperbilirubinemia and abundant intrahepatic pigment in a centrilobular and midzonal distribution that occurs in golden lion tamarins." [PMID:8116141] +synonym: "Dubin-Johnson syndrome, golden lion tamarin" RELATED [PMID:8116141] +synonym: "hyperbilirubinaemia II-like, golden lion tamarin" RELATED [OMIA:000498-30588] +xref: OMIA:000498-30588 {source="MONDO:equivalentTo"} +is_a: MONDO:1012967 {source="PMID:8116141"} ! liver disorder, non-human animal +is_a: MONDO:1012974 {source="OMIA:000498-30588", source="https://orcid.org/0000-0002-5002-8648"} ! hyperbilirubinemia, non-human animal +relationship: in_taxon NCBITaxon:30588 {source="OMIA:000498-30588"} +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012613 +name: intestinal cobalamin (vitamin B12) malabsorption, AMN-related, dog +def: "Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the AMN gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:000565-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:000565-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012451 {source="OMIA:000565-9615", source="https://orcid.org/0000-0002-5002-8648"} ! intestinal cobalamin (vitamin B12) malabsorption, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403434 {source="OMIA:000565-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:000565-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012614 +name: membranoproliferative glomerulonephritis, CFH-related, pig +def: "Form of glomerulonephritis that occurs in pigs, is characterized by glomerular hypercellularity and thickening of the glomerular capillary walls and glomerular basement membrane due to large amounts of dense deposits, and is caused by an absence of omplement regulator factor H." [PMID:12466119] +synonym: "hereditary factor H deficiency, pig" RELATED [OMIA:000636-9823] +synonym: "membranoproliferative glomerulonephritis type II, pig" EXACT [OMIA:000636-9823] +synonym: "porcine dense deposit disease" RELATED [OMIA:000636-9823] +xref: OMIA:000636-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1010258 {source="OMIA:000636-9823", source="https://orcid.org/0000-0002-5002-8648"} ! glomerulonephritis, non-human animal +is_a: MONDO:1011321 {source="OMIA:000636-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397525 {source="OMIA:000636-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9823 {source="OMIA:000636-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012615 +name: mesangiocapillary glomerulonephritis, type I, sheep +def: "A form of glomerulonephritis that occurs in sheep and is characterized by thickening of glomerular capillary basement membranes, proliferation of mesangial cells, and peri-glomerular fibrosis and associated with C3 deficiency." [PMID:21252520, PMID:6372972] +xref: OMIA:000642-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1010258 {source="OMIA:000642-9940", source="https://orcid.org/0000-0002-5002-8648"} ! glomerulonephritis, non-human animal +is_a: MONDO:1011321 {source="OMIA:000642-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011421 {source="PMID:21252520"} ! complement component 3 deficiency, non-human animal +relationship: in_taxon NCBITaxon:9940 {source="OMIA:000642-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012616 +name: microphthalmia-4, chicken +def: "Inherited microphthalmia that occurs in female chickens." [PMID:1578107] +xref: OMIA:000650-9031 {source="MONDO:equivalentTo"} +is_a: MONDO:1011237 {source="OMIA:000650-9031", source="https://orcid.org/0000-0002-5002-8648"} ! microphthalmia, chicken +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: in_taxon NCBITaxon:9031 {source="OMIA:000650-9031"} ! Gallus gallus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012617 +name: mucopolysaccharidosis I, dog +def: "Any lysosomal storage disorder that occurs in dogs due to a mutation in the IDUA gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "Hurler syndrome, dog" RELATED [OMIA:000664-9615] +synonym: "MPS I" EXACT ABBREVIATION [OMIA:000664-9615] +xref: OMIA:000664-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:000664-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012581 {source="OMIA:000664-9615", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100505382 {source="OMIA:000664-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:000664-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012618 +name: mucopolysaccharidosis I, domestic cat +def: "Any lysosomal storage disorder that occurs in cats due to a mutation in the IDUA gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "Hurler syndrome, domestic cat" RELATED [OMIA:000664-9685] +synonym: "MPS I" EXACT ABBREVIATION [OMIA:000664-9685] +xref: OMIA:000664-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:000664-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012581 {source="OMIA:000664-9685", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101095896 {source="OMIA:000664-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:000664-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012620 name: congenital myasthenic syndrome, CHRNE-related, dog @@ -587448,6 +587629,47 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:000685-9915"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012645 +name: nephritis, COL4A5-related, dog +def: "Nephritis that occurs in male dogs due to a mutation in the COL4A5 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "Alport syndrome, dog" RELATED [OMIA:001112-9615] +synonym: "glomerulonephritis, dog" RELATED [OMIA:001112-9615] +synonym: "X-linked hereditary nephropathy, dog" RELATED [OMIA:001112-9615] +synonym: "X-linked nephritis, dog" RELATED [OMIA:001112-9615] +xref: OMIA:001112-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011045 {source="OMIA:001112-9615", source="https://orcid.org/0000-0002-5002-8648"} ! nephritis, dog +is_a: MONDO:1011321 {source="OMIA:001112-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403466 {source="OMIA:001112-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001112-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012646 +name: autosomal dominant nephritis, dog +def: "Autosomal dominant form of nephritis that occurs in dogs." [MONDO:patterns/autosomal_dominant] +synonym: "Alport syndrome, dog" RELATED [OMIA:001114-9615] +synonym: "nephritis, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +xref: OMIA:001114-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011045 {source="OMIA:001114-9615", source="https://orcid.org/0000-0002-5002-8648"} ! nephritis, dog +is_a: MONDO:1011321 {source="OMIA:001114-9615"} ! hereditary disease, non-human animal +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001114-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012660 +name: mucolipidosis, GNPTAB-related, domestic cat +def: "Mucolipidosis that occurs in cats due to a mutation in the GNPTAB gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "I-cell disease, domestic cat" EXACT [OMIA:001248-9685] +synonym: "mucolipidosis II, domestic cat" EXACT [OMIA:001248-9685] +xref: OMIA:001248-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001248-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012980 {source="OMIA:001248-9685", source="https://orcid.org/0000-0002-5002-8648"} ! mucolipidosis, non-human animal +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101100231 {source="OMIA:001248-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:001248-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012662 name: dwarfism, ACAN-related, horse @@ -587471,6 +587693,89 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:001271-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012664 +name: mucopolysaccharidosis II, Kaka +def: "Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in kakas." [PMID:34424960] +synonym: "Hunter syndrome, Kaka" RELATED [OMIA:001317-176043] +synonym: "MPS II" EXACT ABBREVIATION [OMIA:001317-176043] +xref: OMIA:001317-176043 {source="MONDO:equivalentTo"} +is_a: MONDO:1012581 {source="OMIA:001317-176043", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: in_taxon NCBITaxon:176043 {source="OMIA:001317-176043"} +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012665 +name: mucopolysaccharidosis II, dog +def: "Any lysosomal storage disorder characterized by deficient iduronate-2-sulfatase (IDS) activity that occurs in dogs." [PMID:9598589] +synonym: "Hunter syndrome, dog" RELATED [OMIA:001317-9615] +synonym: "MPS II" EXACT ABBREVIATION [OMIA:001317-9615] +xref: OMIA:001317-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1012581 {source="OMIA:001317-9615", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001317-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012666 +name: hereditary footpad hyperkeratosis, FAM83G-related, dog +def: "An orthokeratotic palmoplantar hyperkeratosis leading to thickened and hardened footpads that occurs in dogs starting at an age of 18 to 24 weeks of age due to a mutation in the FAM83G gene." [PMID:24832243] +synonym: "HFH" EXACT ABBREVIATION [OMIA:001327-9615] +synonym: "hyperkeratosis, palmoplantar, FAM83G-related, dog" EXACT [OMIA:001327-9615] +xref: OMIA:001327-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001327-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012976 {source="OMIA:001327-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hyperkeratosis, non-human animal +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100682814 {source="OMIA:001327-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001327-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012669 +name: mucopolysaccharidosis IIIB, emu +def: "Any lysosomal storage disorder that occurs in emu due to a mutation in the NAGLU gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "Sanfilippo syndrome type B, emu" RELATED [OMIA:001342-8790] +xref: OMIA:001342-8790 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001342-8790", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012581 {source="OMIA:001342-8790", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/112993853 {source="OMIA:001342-8790", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:8790 {source="OMIA:001342-8790"} ! Dromaius novaehollandiae +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012670 +name: mucopolysaccharidosis IIIB, dog +def: "Any lysosomal storage disorder that occurs in dogs due to a mutation in the NAGLU gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "Sanfilippo syndrome type B, dog" RELATED [OMIA:001342-9615] +xref: OMIA:001342-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001342-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012581 {source="OMIA:001342-9615", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/490965 {source="OMIA:001342-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001342-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012671 +name: mucopolysaccharidosis IIIB, pig +def: "Any lysosomal storage disorder that occurs in pigs due to a mutation in the NAGLU gene created by genetic engineering or gene editing." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "Sanfilippo syndrome type B, pig" RELATED [OMIA:001342-9823] +xref: OMIA:001342-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001342-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012581 {source="OMIA:001342-9823", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: in_taxon NCBITaxon:9823 {source="OMIA:001342-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012672 +name: mucopolysaccharidosis IIIB, cattle +def: "Any lysosomal storage disorder that occurs in cattle due to a mutation in the NAGLU gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "Sanfilippo syndrome type B, cattle" RELATED [OMIA:001342-9913] +xref: OMIA:001342-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001342-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012581 {source="OMIA:001342-9913", source="https://orcid.org/0000-0002-5002-8648"} ! mucopolysaccharidosis or mucopolysaccharidosis-like disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/789125 {source="OMIA:001342-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:001342-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012674 name: centronuclear myopathy, HACD1-related, dog @@ -587602,6 +587907,31 @@ is_a: MONDO:1010167 {source="OMIA:001461-9986", source="https://orcid.org/0000-0 relationship: in_taxon NCBITaxon:9986 {source="OMIA:001461-9986"} ! Oryctolagus cuniculus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012692 +name: canine multiple system degeneration, SERAC1-related, dog +def: "A progressive hereditary neurodegenerative disorder that occurs in dogs and is characterized by neuronal degeneration and loss in the cerebellum, olivary nuclei, substantia nigra, and caudate nuclei due to a mutation in the SERAC1 gene." [PMID:34490804, PMID:38003185] +synonym: "canine multiple system degeneration, dog" RELATED [OMIA:001468-9615] +synonym: "CMSD" EXACT ABBREVIATION [OMIA:001468-9615] +xref: OMIA:001468-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001468-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012953 {source="OMIA:001468-9615", source="https://orcid.org/0000-0002-5002-8648"} ! neurodegenerative disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476255 {source="OMIA:001468-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001468-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012693 +name: melanoma-bearing Libechov minipig, pig +def: "Hereditary melanoma that occurs in melanoma-bearing Libechov minipipgs due to selective breeding for the purpose of creating a swine model of hereditary metastatic melanoma." [PMID:31717496] +synonym: "MeLiM" EXACT ABBREVIATION [OMIA:001480-9823] +xref: OMIA:001480-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001480-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012162 {source="OMIA:001480-9823", source="https://orcid.org/0000-0002-5002-8648"} ! congenital melanoma, pig +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: in_taxon NCBITaxon:9823 {source="OMIA:001480-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012694 name: dwarfism, PRKG2-related, dog @@ -587624,6 +587954,20 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:001485-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012699 +name: lysosomal storage disease, ARSG related, dog +def: "Any lysosomal storage disease that occurs in dogs due to a mutation in the ARSG gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "cerebellar cortical abiotrophy, dog" RELATED [OMIA:001503-9615] +synonym: "cerebellar cortical degeneration, dog" RELATED [OMIA:001503-9615] +synonym: "neuronal ceroid lipofuscinosis, dog" RELATED [OMIA:001503-9615] +xref: OMIA:001503-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1010860 {source="OMIA:001503-9615", source="https://orcid.org/0000-0002-5002-8648"} ! lysosomal storage disease, dog +is_a: MONDO:1011321 {source="OMIA:001503-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/480460 {source="OMIA:001503-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001503-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012700 name: geleophysic dysplasia, ADMATSL2-related, dog @@ -587649,6 +587993,30 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:001541-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012711 +name: immunodeficiency syndrome, SLC5A3-related, horse +def: "Immunodeficiency characterized by B-lymphocyte lymphopenia and progressive anemia that occurs in horses due to a mutation in the SLC5A3 gene." [PMID:21750681] +synonym: "Fell pony syndrome, horse" RELATED [OMIA:001578-9796] +xref: OMIA:001578-9796 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001578-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011724 {source="OMIA:001578-9796", source="https://orcid.org/0000-0002-5002-8648"} ! immunodeficiency disease, non-human animal +is_a: MONDO:1012981 {source="OMIA:001578-9796", source="https://orcid.org/0000-0002-5002-8648"} ! anemia, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100052070 {source="OMIA:001578-9796", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9796 {source="OMIA:001578-9796"} ! Equus caballus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012712 +name: ichthyosis, PNPLA1-related, dog +def: "Ichthyosis that occurs in dogs due to a mutation in the PNPLA1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:001588-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001588-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012978 {source="OMIA:001588-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/481763 {source="OMIA:001588-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001588-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012713 name: benign familial juvenile epilepsy, LGI2-related, dog @@ -587663,6 +588031,18 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:001596-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012718 +name: muscular dystrophy with reduced β-sarcoglycan, domestic cat +def: "Any muscular dystrophy associated with β-sarcoglycan deficiency that occurs in cats." [PMID:19203767] +synonym: "LGMDR4" EXACT ABBREVIATION [OMIA:001620-9685] +synonym: "Muscular dystrophy, limb-girdle, type R4 (LGMDR4), cat" RELATED [OMIA:001620-9685] +synonym: "sarcoglycan deficiency, cat" RELATED [OMIA:001620-9685] +xref: OMIA:001620-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1010912 {source="OMIA:001620-9685", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, domestic cat +relationship: in_taxon NCBITaxon:9685 {source="OMIA:001620-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012719 name: ametapodia-2, chicken @@ -587685,6 +588065,90 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:001660-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012723 +name: junctional epidermolysis bullosa, LAMA3-related, dog +def: "Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMA3 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, LAMA3-related, dog" EXACT [OMIA:001677-9615] +xref: OMIA:001677-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001677-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011548 {source="OMIA:001677-9615", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/480173 {source="OMIA:001677-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001677-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012724 +name: junctional epidermolysis bullosa, LAMA3-related, horse +def: "Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMA3 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, LAMA3-related, horse" EXACT [OMIA:001677-9796] +synonym: "epitheliogenesis imperfecta, horse" RELATED [OMIA:001677-9796] +xref: OMIA:001677-9796 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001677-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011426 {source="OMIA:001677-9796", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa , non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/791238 {source="OMIA:001677-9796", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9796 {source="OMIA:001677-9796"} ! Equus caballus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012725 +name: junctional epidermolysis bullosa, LAMA3-related, cattle +def: "Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMA3 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, LAMA3-related, cattle" EXACT [OMIA:001677-9913] +xref: OMIA:001677-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001677-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011547 {source="OMIA:001677-9913", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa, cattle +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100336873 {source="OMIA:001677-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:001677-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012726 +name: junctional epidermolysis bullosa, LAMC2-related, horse +def: "Junctional epidermolysis bullosa that occurs in horses due to a mutation in the LAMC2 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, LAMC2-related, horse" EXACT [OMIA:001678-9796] +xref: OMIA:001678-9796 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001678-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011426 {source="OMIA:001678-9796", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa , non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/791245 {source="OMIA:001678-9796", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9796 {source="OMIA:001678-9796"} ! Equus caballus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012727 +name: junctional epidermolysis bullosa, LAMC2-related, cattle +def: "Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the LAMC2 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, LAMC2-related, cattle" EXACT [OMIA:001678-9913] +xref: OMIA:001678-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001678-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011547 {source="OMIA:001678-9913", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa, cattle +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/511043 {source="OMIA:001678-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:001678-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012728 +name: junctional epidermolysis bullosa, LAMC2-related, sheep +def: "Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the LAMC2 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, LAMC2-related, sheep" EXACT [OMIA:001678-9940] +synonym: "Herlitz type junctional epidermolysis bullosa, sheep" RELATED [OMIA:001678-9940] +xref: OMIA:001678-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001678-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011426 {source="OMIA:001678-9940", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa , non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100216328 {source="OMIA:001678-9940", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9940 {source="OMIA:001678-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012730 +name: hemifacial microsomia, domestic cat +def: "Any congenital malformation syndrome presenting with unilateral craniofacial abnormalities that occurs in cats." [PMID:22610383] +synonym: "type III hemifacial microsomia, domestic cat" RELATED [OMIA:001690-9685] +xref: OMIA:001690-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1011360 {source="OMIA:001690-9685", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal +relationship: in_taxon NCBITaxon:9685 {source="OMIA:001690-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012731 name: progressive early-onset cerebellar ataxia, SEL1L-related, dog @@ -587707,6 +588171,17 @@ is_a: MONDO:1011425 {source="OMIA:001716-9913", source="https://orcid.org/0000-0 relationship: in_taxon NCBITaxon:9913 {source="OMIA:001716-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012737 +name: intestinal cobalamin (vitamin B12) malabsorption, CUBN-related, dog +def: "Intestinal cobalamin (vitamin B12) malabsorption that occurs in dogs due to a mutation in the CUBN gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:001786-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001786-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012451 {source="OMIA:001786-9615", source="https://orcid.org/0000-0002-5002-8648"} ! intestinal cobalamin (vitamin B12) malabsorption, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403767 {source="OMIA:001786-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:001786-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012738 name: hereditary chondrodysplasia, dog @@ -587868,6 +588343,30 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:001947-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012758 +name: junctional epidermolysis bullosa, ITGB4-related, cattle +def: "Junctional epidermolysis bullosa that occurs in cattle due to a mutation in the ITGB4 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, ITGB4-related, cattle" EXACT [OMIA:001948-9913] +xref: OMIA:001948-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001948-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011547 {source="OMIA:001948-9913", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa, cattle +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/506995 {source="OMIA:001948-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:001948-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012759 +name: junctional epidermolysis bullosa, ITGB4-related, sheep +def: "Junctional epidermolysis bullosa that occurs in sheep due to a mutation in the ITGB4 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, ITGB4-related, sheep" EXACT [OMIA:001948-9940] +xref: OMIA:001948-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:001948-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011426 {source="OMIA:001948-9940", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa , non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101119919 {source="OMIA:001948-9940", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9940 {source="OMIA:001948-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012760 name: cholesterol deficiency, APOB-related, cattle @@ -587981,6 +588480,18 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9823 {source="OMIA:002054-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012776 +name: atherosclerosis, APOE-related, rabbit +def: "Atherosclerosis that occurs in rabbits due to a mutation in the APOE gene created by genetic engineering or gene editing." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "hyperlipidaemia/atherosclerosis, APOE-related, rabbit" EXACT [OMIA:002063-9986] +xref: OMIA:002063-9986 {source="MONDO:equivalentTo"} +is_a: MONDO:1010008 {source="OMIA:002063-9986", source="https://orcid.org/0000-0002-5002-8648"} ! atherosclerosis, non-human animal +is_a: MONDO:1011321 {source="OMIA:002063-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100009337 {source="OMIA:002063-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9986 {source="OMIA:002063-9986"} ! Oryctolagus cuniculus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012777 name: dwarfism, B4GALT7-related, horse @@ -588080,6 +588591,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002097-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012786 +name: ichthyosis, ASPRV1-related, dog +def: "Ichthyosis that occurs in dogs due to a mutation in the ASPRV1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002099-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002099-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012978 {source="OMIA:002099-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/481416 {source="OMIA:002099-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002099-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012789 name: cerebellar ataxia, ATP1B2-related, dog @@ -588106,6 +588628,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:002111-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012792 +name: hypotrichosis, KRT71-related, cattle +def: "Congenital hypotrichosis that occurs in cattle due to a mutation in the KRT71 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002114-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002114-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012977 {source="OMIA:002114-9913", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypotrichosis, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/532644 {source="OMIA:002114-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:002114-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012793 name: oculocutaneous albinism, HPS5-related, three-spined stickleback @@ -588145,6 +588678,30 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:002135-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012801 +name: Leigh syndrome, SURF1-related, pig +def: "A mitochondrial disease characterized by central nervous system development delay that occurs in pigs due to a mutation in the SURF1 gene created by genetic engineering or gene editing." [PMID:29601977] +xref: OMIA:002147-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002147-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011332 {source="OMIA:002147-9823", source="https://orcid.org/0000-0002-5002-8648"} ! mitochondrial disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100155488 {source="OMIA:002147-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9823 {source="OMIA:002147-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012804 +name: hereditary nonpolyposis colorectal cancer, MSH6-related, rhesus monkey +def: "Tumors at the ileocecal junction, cecum and proximal colon that occur in rhesus macaques due to a germline mutation in the MSH6 gene." [PMID:30108684] +synonym: "HNPCC5, rhesus monkey" RELATED [OMIA:002160-9544] +synonym: "Lynch syndrome, rhesus monkey" RELATED [OMIA:002160-9544] +xref: OMIA:002160-9544 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002160-9544", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011828 {source="OMIA:002160-9544", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/715701 {source="OMIA:002160-9544", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9544 {source="OMIA:002160-9544"} ! Macaca mulatta +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012805 name: spinocerebellar ataxia, SCN8A-related, dog @@ -588181,6 +588738,164 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002208-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012809 +name: hypertrophic cardiomyopathy, MYH7-related, domestic cat +def: "Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the MYH7 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "cardiomyopathy, hypertrophic, MYH7-related, domestic cat" EXACT [OMIA:002212-9685] +xref: OMIA:002212-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1010459 {source="OMIA:002212-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, domestic cat +is_a: MONDO:1011321 {source="OMIA:002212-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101096736 {source="OMIA:002212-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:002212-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012810 +name: hypertrophic cardiomyopathy, MYH7-related, pig +def: "Hypertrophic cardiomyopathy that occurs in pigs due to a mutation in the MYH7 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "cardiomyopathy, hypertrophic, MYH7-related, pig" EXACT [OMIA:002212-9823] +xref: OMIA:002212-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1010460 {source="OMIA:002212-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, pig +is_a: MONDO:1011321 {source="OMIA:002212-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/396860 {source="OMIA:002212-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9823 {source="OMIA:002212-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012811 +name: hypertrophic cardiomyopathy, MYH7-related, rabbit +def: "Hypertrophic cardiomyopathy that occurs in rabbits due to a mutation in the MYH7 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "cardiomyopathy, hypertrophic, MYH7-related, rabbit" EXACT [OMIA:002212-9986] +xref: OMIA:002212-9986 {source="MONDO:equivalentTo"} +is_a: MONDO:1010015 {source="OMIA:002212-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, non-human animal +is_a: MONDO:1011321 {source="OMIA:002212-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100101566 {source="OMIA:002212-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9986 {source="OMIA:002212-9986"} ! Oryctolagus cuniculus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012812 +name: leukodystrophy, TSEN54-related, dog +def: "Leukodystrophy that occurs in dogs due to a mutation in the TSEN54 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002215-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011005 {source="OMIA:002215-9615", source="https://orcid.org/0000-0002-5002-8648"} ! leukodystrophy, dog +is_a: MONDO:1011321 {source="OMIA:002215-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/483315 {source="OMIA:002215-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002215-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012814 +name: hypogonadotropic hypogonadism, TAC3-related, domestic cat +def: "Hypogonadism characterized by dysfunctional GnRH release leading to low blood testosterone and pituitary hormone levels and impaired testicular function that occurs in cats due to a mutation in the TAC3 gene." [PMID:31615056] +synonym: "testicular hypoplasia and persistent primary dentition, domestic cat" RELATED [OMIA:002219-9685] +xref: OMIA:002219-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1010276 {source="OMIA:002219-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hypogonadism, non-human animal +is_a: MONDO:1011321 {source="OMIA:002219-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101089368 {source="OMIA:002219-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:002219-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012815 +name: laryngeal paralysis, RAPGEF6-related, dog +def: "Laryngeal paralysis that occurs in dogs due to a mutation in the RAPGEF6 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002222-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002222-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012322 {source="OMIA:002222-9615", source="https://orcid.org/0000-0002-5002-8648"} ! laryngeal paralysis, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/609521 {source="OMIA:002222-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002222-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012816 +name: lipid malabsorption, ACSL5-related, dog +def: "An inborn error of lipid metabolism characterized by stunted postnatal growth, steatorrhea, abdominal distension and wiry coat that occurs in dogs due to a mutation in the ACSL5 gene." [PMID:33106515] +xref: OMIA:002226-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002226-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012979 {source="OMIA:002226-9615", source="https://orcid.org/0000-0002-5002-8648"} ! inborn errors of metabolism, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/477820 {source="OMIA:002226-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002226-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012818 +name: hypotrichosis, HR-related, domestic cat +def: "Congenital hypotrichosis that occurs in cats due to a mutation in the HR gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002229-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002229-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012977 {source="OMIA:002229-9685", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypotrichosis, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101090097 {source="OMIA:002229-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:002229-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012819 +name: hypotrichosis, HR-related, pig +def: "Congenital hypotrichosis that occurs in pigs due to a mutation in the HR gene created by genetic engineering or gene editing." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002229-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002229-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012977 {source="OMIA:002229-9823", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypotrichosis, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397617 {source="OMIA:002229-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9823 {source="OMIA:002229-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012820 +name: hypotrichosis, HR-related, sheep +def: "Congenital hypotrichosis that occurs in sheep due to a mutation in the HR gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002229-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002229-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012977 {source="OMIA:002229-9940", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypotrichosis, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/443241 {source="OMIA:002229-9940", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9940 {source="OMIA:002229-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012821 +name: hypotrichosis, HEPHL1-related, cattle +def: "Congenital hypotrichosis that occurs in cattle due to a mutation in the HEPHL1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002230-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002230-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012977 {source="OMIA:002230-9913", source="https://orcid.org/0000-0002-5002-8648"} ! congenital hypotrichosis, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/519580 {source="OMIA:002230-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:002230-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012822 +name: congenital myopathy, SPTBN4-related, pig +def: "Any congenital myopathy that occurs in pigs due to a mutation in the SPTBN4 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002232-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1010196 {source="OMIA:002232-9823", source="https://orcid.org/0000-0002-5002-8648"} ! congenital myopathy, non-human animal +is_a: MONDO:1011321 {source="OMIA:002232-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100626544 {source="OMIA:002232-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9823 {source="OMIA:002232-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012825 +name: ichthyosis, ABCA12-related, pig +def: "Ichthyosis that occurs in pigs due to a mutation in the ABCA12 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002238-9823 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002238-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011427 {source="OMIA:002238-9823", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100512445 {source="OMIA:002238-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9823 {source="OMIA:002238-9823"} ! Sus scrofa +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012826 +name: ichthyosis, ABCA12-related, cattle +def: "Ichthyosis that occurs in cattle due to a mutation in the ABCA12 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002238-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002238-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011541 {source="OMIA:002238-9913", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, cattle +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/523479 {source="OMIA:002238-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:002238-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012827 name: hereditary cerebellar ataxia, KCNIP4-related, dog @@ -588194,6 +588909,28 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002240-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012828 +name: muscular dystrophy, ANO5-related, rabbit +def: "Any muscular dystrophy that occurs in rabbits due to a mutation in the ANO5 gene created by genetic engineering or gene editing." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002242-9986 {source="MONDO:equivalentTo"} +is_a: MONDO:0024965 {source="OMIA:002242-9986", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, non-human animal +is_a: MONDO:1011321 {source="OMIA:002242-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100340377 {source="OMIA:002242-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9986 {source="OMIA:002242-9986"} ! Oryctolagus cuniculus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012829 +name: ichthyosis, DSP-related, cattle +def: "Ichthyosis that occurs in cattle due to a mutation in the DSP gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002243-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002243-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011541 {source="OMIA:002243-9913", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, cattle +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/514360 {source="OMIA:002243-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:002243-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012830 name: craniomandibular osteopathy, SLC37A2-related, dog @@ -588206,6 +588943,18 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002244-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012834 +name: junctional epidermolysis bullosa, LAMB3-related, dog +def: "Junctional epidermolysis bullosa that occurs in dogs due to a mutation in the LAMB3 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "epidermolysis bullosa, junctionalis, LAMB3-related, dog" EXACT [OMIA:002269-9615] +xref: OMIA:002269-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002269-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011548 {source="OMIA:002269-9615", source="https://orcid.org/0000-0002-5002-8648"} ! junctionalis epidermolysis bullosa, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/442953 {source="OMIA:002269-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002269-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012836 name: spinocerebellar ataxia, SLC12A6-related, dog @@ -588241,6 +588990,20 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9823 {source="OMIA:002283-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012841 +name: muscular dystrophy, TNNT1-related, sheep +def: "Any muscular dystrophy that occurs in sheep due to a mutation in the TNNT1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "OCPMD" EXACT ABBREVIATION [OMIA:002285-9940] +synonym: "ovine congenital progressive muscular dystrophy" RELATED [OMIA:002285-9940] +xref: OMIA:002285-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1010913 {source="OMIA:002285-9940", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, sheep +is_a: MONDO:1011321 {source="OMIA:002285-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101122212 {source="OMIA:002285-9940", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9940 {source="OMIA:002285-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012843 name: cerebellar degeneration-myositis complex, SLC25A12-related, dog @@ -588254,6 +589017,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002294-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012846 +name: laryngeal paralysis and polyneuropathy, CNTNAP1-related, dog +def: "Laryngeal paralysis with variable dysphagia, dysphonia, high-stepping and uncoordinated gait, exercise intolerance, stumbling and tripping, and limb muscle atrophy that occurs in dogs due to a mutation in the CNTNAP1 gene." [PMID:33261176, PMID:38003185] +xref: OMIA:002301-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002301-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012322 {source="OMIA:002301-9615", source="https://orcid.org/0000-0002-5002-8648"} ! laryngeal paralysis, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/490960 {source="OMIA:002301-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002301-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012847 name: cerebral dysgenesis, PEA15 related, domestic cat @@ -588265,6 +589039,20 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9685 {source="OMIA:002303-9685"} ! Felis catus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012849 +name: limb-girdle muscular dystrophy, SGCA-related, dog +def: "Any muscular dystrophy that occurs in dogs due to a mutation in the SGCA gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "LGMD2D" EXACT ABBREVIATION [OMIA:002305-9615] +synonym: "limb-girdle muscular dystrophy 2D, dog" RELATED [PMID:33407862] +synonym: "Muscular dystrophy, limb-girdle, type R3 (LGMDR3), dog" RELATED [OMIA:002305-9615] +xref: OMIA:002305-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1010911 {source="OMIA:002305-9615", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, dog +is_a: MONDO:1011321 {source="OMIA:002305-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/609265 {source="OMIA:002305-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002305-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012850 name: dilated cardiomyopathy, DMD-related, rabbit @@ -588324,6 +589112,18 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002315-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012859 +name: hypertrophic cardiomyopathy, ALMS1-related, domestic cat +def: "Hypertrophic cardiomyopathy that occurs in cats due to a mutation in the ALMS1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "cardiomyopathy, hypertrophic, ALMS1-related, domestic cat" EXACT [OMIA:002316-9685] +xref: OMIA:002316-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1010459 {source="OMIA:002316-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hypertrophic cardiomyopathy, domestic cat +is_a: MONDO:1011321 {source="OMIA:002316-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101098372 {source="OMIA:002316-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:002316-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012860 name: abnormal gait, retinal dysplasia, cataracts, RORB-related, rabbit @@ -588380,6 +589180,52 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002326-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012866 +name: hypercholesterolemia, PCSK9-related, rabbit +def: "Hypercholesterolemia that occurs in rabbits due to a mutation in the PCSK9 gene created by genetic engineering or gene editing." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "hypercholesterolaemia, PCSK9-related, rabbit" EXACT [OMIA:002329-9986] +xref: OMIA:002329-9986 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002329-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012975 {source="OMIA:002329-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hyperlipidemia, non-human animal +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100338756 {source="OMIA:002329-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9986 {source="OMIA:002329-9986"} ! Oryctolagus cuniculus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012868 +name: long QT syndrome, KCNQ1-related, rabbit +def: "Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNQ1 gene created by genetic engineering or gene editing." [PMID:39115049] +xref: OMIA:002332-9986 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002332-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012982 {source="OMIA:002332-9986", source="https://orcid.org/0000-0002-5002-8648"} ! heart disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100009443 {source="OMIA:002332-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9986 {source="OMIA:002332-9986"} ! Oryctolagus cuniculus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012869 +name: long QT syndrome, KCNH2-related, rabbit +def: "Any heart disorder characterized by pathologically prolonged ventricular action potential duration with sudden cardiac death due to polymorphic vetricular tachycardia that occurs in rabbits due to a mutation in the KCNH2 gene created by genetic engineering or gene editing." [PMID:18464931] +xref: OMIA:002333-9986 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002333-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012982 {source="OMIA:002333-9986", source="https://orcid.org/0000-0002-5002-8648"} ! heart disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100009242 {source="OMIA:002333-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9986 {source="OMIA:002333-9986"} ! Oryctolagus cuniculus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012870 +name: long QT syndrome, KCNE1-related, rabbit +def: "Any heart disorder characterized by pathologically prolonged ventricular action potential duration that occurs in rabbits due to a mutation in the KCNE1 gene created by genetic engineering or gene editing." [PMID:27076034] +xref: OMIA:002334-9986 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002334-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012982 {source="OMIA:002334-9986", source="https://orcid.org/0000-0002-5002-8648"} ! heart disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100126000 {source="OMIA:002334-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9986 {source="OMIA:002334-9986"} ! Oryctolagus cuniculus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012871 name: deafness, LOXHD1-related, dog @@ -588442,6 +589288,41 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002367-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012879 +name: ichthyosis, ABHD5-related, dog +def: "Ichthyosis that occurs in dogs due to a mutation in the ABHD5 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002368-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002368-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012978 {source="OMIA:002368-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/485570 {source="OMIA:002368-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002368-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012880 +name: motor neuron disease, TMCO6-related, sheep +def: "Motor neuron disease that occurs in sheep due to a mutation in the TMCO6 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002370-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002370-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011868 {source="OMIA:002370-9940", source="https://orcid.org/0000-0002-5002-8648"} ! motor neuron disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101119722 {source="OMIA:002370-9940", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9940 {source="OMIA:002370-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012881 +name: microcephaly, MFSD2A-related, sheep +def: "Microcephaly that occurs in sheep due to a mutation in the MFSD2A gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "congenital brain hypoplasia, sheep" RELATED [OMIA:002371-9940] +xref: OMIA:002371-9940 {source="MONDO:equivalentTo"} +is_a: MONDO:1010618 {source="OMIA:002371-9940", source="https://orcid.org/0000-0002-5002-8648"} ! microcephaly, sheep +is_a: MONDO:1011321 {source="OMIA:002371-9940", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101120365 {source="OMIA:002371-9940", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9940 {source="OMIA:002371-9940"} ! Ovis aries +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012882 name: Charcot Marie Tooth disease, FGD4-related, cattle @@ -588488,6 +589369,18 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9940 {source="OMIA:002413-9940"} ! Ovis aries property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012893 +name: ichthyosis, KRT1-related, dog +def: "Ichthyosis that occurs in dogs due to a mutation in the KRT1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "non-epidermolytic ichthyosis, dog" RELATED [OMIA:002425-9615] +xref: OMIA:002425-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002425-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012978 {source="OMIA:002425-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, dog +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/444857 {source="OMIA:002425-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002425-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012896 name: deafness, GJB2-related, pig @@ -588499,6 +589392,42 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9823 {source="OMIA:002439-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012899 +name: hydrallantois, SLC12A1-related, cattle +def: "Hydrallantois that occurs in cattle due to a mutation in the SLC12A1 gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002444-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002444-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012503 {source="OMIA:002444-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hydrallantois, cattle +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/407161 {source="OMIA:002444-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:002444-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012901 +name: ichthyosis, FA2H-related, cattle +def: "Ichthyosis that occurs in cattle due to a mutation in the FA2H gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +synonym: "ichthyosis congenita, cattle" RELATED [OMIA:002450-9913] +xref: OMIA:002450-9913 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002450-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011541 {source="OMIA:002450-9913", source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, cattle +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/516891 {source="OMIA:002450-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9913 {source="OMIA:002450-9913"} ! Bos taurus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012902 +name: hair shaft dysplasia, DSG4-related, domestic cat +def: "A disorder characterized by bulbous swellings of the hair shafts and hypotrichosis that occurs in cats due to a mutation in the DSG4 gene." [PMID:34878611] +synonym: "hair shaft dystrophy, cat" RELATED [OMIA:002452-9685] +xref: OMIA:002452-9685 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002452-9685", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1011328 {source="OMIA:002452-9685", source="https://orcid.org/0000-0002-5002-8648"} ! integumentary system disorder, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101085667 {source="OMIA:002452-9685", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9685 {source="OMIA:002452-9685"} ! Felis catus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012904 name: fragile X syndrome, FMR1-related, white-tufted-ear marmoset @@ -588509,6 +589438,19 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9483 {source="OMIA:002455-9483"} ! Callithrix jacchus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012905 +name: hypoparathyroidism, RAPGEF5-related, horse +def: "Hypoparathyroidism that occurs in horses due to a mutation in the RAPGEF5 gene. Affected foals present with hypocalcemia, tetany and seizures." [OMIA:002458-9796] +synonym: "equine familial isolated hypoparathyroidism" RELATED [OMIA:002458-9796] +xref: OMIA:002458-9796 {source="MONDO:equivalentTo"} +is_a: MONDO:1010600 {source="OMIA:002458-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hypoparathyroidism, horse +is_a: MONDO:1011321 {source="OMIA:002458-9796", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100067593 {source="OMIA:002458-9796", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9796 {source="OMIA:002458-9796"} ! Equus caballus +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012906 name: congenital muscular dystrophy, LAMA2-related, dog @@ -588520,6 +589462,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002459-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012907 +name: muscular dystrophy-dystroglycanopathy, LARGE1-related, dog +def: "Any muscular dystrophy due to abnormal glycosylation of α-dystroglycan that occurs in dogs due to a mutation in the LARGE1 gene." [PMID:34654610] +xref: OMIA:002460-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1010911 {source="OMIA:002460-9615", source="https://orcid.org/0000-0002-5002-8648"} ! muscular dystrophy, dog +is_a: MONDO:1011321 {source="OMIA:002460-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/474521 {source="OMIA:002460-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002460-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012908 name: cryopyrin-associated periodic syndrome, NLRP3-related, pig @@ -588770,6 +589723,16 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9615 {source="OMIA:002550-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012937 +name: Lewy body-like disease, CADPS2-related, yellow-crowned parrot +def: "A neurodegenerative disease characterized by severe ataxia, rigidity, and tremor with neuronal loss, spongiosis, and widespread Lewy body-like inclusions in many regions of the brain including the midbrain, basal ganglia, and neocortex that occurs in yellow-crowned parrot due to a mutation in the CADPS2 gene." [PMID:36086934] +xref: OMIA:002573-151761 {source="MONDO:equivalentTo"} +is_a: MONDO:1011321 {source="OMIA:002573-151761", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +is_a: MONDO:1012953 {source="OMIA:002573-151761", source="https://orcid.org/0000-0002-5002-8648"} ! neurodegenerative disease, non-human animal +relationship: in_taxon NCBITaxon:151761 {source="OMIA:002573-151761"} ! Amazona ochrocephala +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012938 name: Alzheimer disease, SORL1-related, pig @@ -588805,6 +589768,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ relationship: in_taxon NCBITaxon:9913 {source="OMIA:002590-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012942 +name: lysosomal storage disease, CNP-related, dog +def: "Any lysosomal storage disease that occurs in dogs due to a mutation in the CNP gene." [MONDO:patterns/nonhuman_disease_series_by_gene] +xref: OMIA:002591-9615 {source="MONDO:equivalentTo"} +is_a: MONDO:1010860 {source="OMIA:002591-9615", source="https://orcid.org/0000-0002-5002-8648"} ! lysosomal storage disease, dog +is_a: MONDO:1011321 {source="OMIA:002591-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/607694 {source="OMIA:002591-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: in_taxon NCBITaxon:9615 {source="OMIA:002591-9615"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1012943 name: dwarfism, ANKRD28-related, cattle @@ -589062,6 +590036,86 @@ intersection_of: MONDO:0005583 ! non-human animal disease intersection_of: MONDO:0700097 MONDO:0018230 ! cross-species analog skeletal dysplasia property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI +[Term] +id: MONDO:1012974 +name: hyperbilirubinemia, non-human animal +def: "Hyperbilirubinemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0024288 ! cross-species analog hyperbilirubinemia +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012975 +name: hyperlipidemia, non-human animal +def: "Hyperlipidemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0021187 ! cross-species analog hyperlipidemia +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012976 +name: hyperkeratosis, non-human animal +def: "Hyperkeratosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0006566 ! cross-species analog keratosis +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012977 +name: congenital hypotrichosis, non-human animal +def: "Congenital hypotrichosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0003037 ! cross-species analog hypotrichosis +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012978 +name: ichthyosis, dog +def: "Ichthyosis that occurs in dogs." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:1011427 {source="https://orcid.org/0000-0002-5002-8648"} ! ichthyosis, non-human animal +relationship: in_taxon NCBITaxon:9615 {source="https://orcid.org/0000-0002-5002-8648"} ! Canis lupus familiaris +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012979 +name: inborn errors of metabolism, non-human animal +def: "Inborn errors of metabolism that occur in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0019052 ! cross-species analog inborn errors of metabolism +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012980 +name: mucolipidosis, non-human animal +def: "Mucolipidosis that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0019248 ! cross-species analog mucolipidosis +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012981 +name: anemia, non-human animal +def: "Anemia that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0002280 ! cross-species analog anemia +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + +[Term] +id: MONDO:1012982 +name: heart disorder, non-human animal +def: "Heart disorder that occurs in non-human animals." [MONDO:patterns/nonhuman_disease] +is_a: MONDO:0005583 {source="https://orcid.org/0000-0002-5002-8648"} ! non-human animal disease +intersection_of: MONDO:0005583 ! non-human animal disease +intersection_of: MONDO:0700097 MONDO:0005267 ! cross-species analog heart disorder +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI + [Term] id: MONDO:1030000 name: hyperinsulinemic hypoglycemia with polycystic kidney disease