diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index c0dcf0246d..57949e9893 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -319956,6 +319956,7 @@ xref: Orphanet:353327 {source="OMIM:616227"} xref: Orphanet:590 {source="OMIM:616227"} xref: UMLS:C4015596 {source="MONDO:equivalentTo", source="MONDO:ncbi_mim2gene_medline"} is_a: MONDO:0018940 {source="DOID:0110658", source="MONDO:Redundant", source="OMIM:616227"} ! congenital myasthenic syndrome +is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 ! ALG14 relationship: has_characteristic MONDO:0021140 {source="https://orcid.org/0000-0002-4142-7153"} ! congenital @@ -319964,6 +319965,7 @@ property_value: confidence "3.24884739376658" xsd:double property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4069" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/6750" xsd:anyURI +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI [Term] id: MONDO:0014543 @@ -486005,11 +486007,14 @@ id: MONDO:0033572 name: intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies subset: gard_rare {source="GARD:18529"} subset: rare -synonym: "IDDEBF" RELATED ABBREVIATION [OMIM:619031] -synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES" RELATED [OMIM:619031] +synonym: "IDDEBF" EXACT ABBREVIATION [OMIM:619031] +synonym: "intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" EXACT [OMIM:619031] xref: GARD:18529 {source="OMIM:619031"} xref: OMIM:619031 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619031"} ! ALG14 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI [Term] id: MONDO:0033613 @@ -486078,6 +486083,9 @@ name: myopathy, epilepsy, and progressive cerebral atrophy synonym: "MEPCA" EXACT ABBREVIATION [OMIM:619036] xref: OMIM:619036 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="https://orcid.org/0000-0001-5208-3432"} ! hereditary disease +is_a: MONDO:0100559 {source="https://clinicalgenome.org/affiliation/40135/"} ! ALG14-congenital disorder of glycosylation +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 {source="OMIM:619036"} ! ALG14 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI [Term] id: MONDO:0033620 @@ -513961,6 +513969,17 @@ relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7497" xsd:anyURI +[Term] +id: MONDO:0100559 +name: ALG14-congenital disorder of glycosylation +def: "Deficiency in the ALG14 enzyme results in incomplete assembly of the lipid linked oligosaccharide (LLO), leading to insufficient N-glycosylation of glycoproteins." [https://clinicalgenome.org/affiliation/40135/] +synonym: "ALG14-CDG" EXACT ABBREVIATION [https://clinicalgenome.org/affiliation/40135/] +is_a: MONDO:0015286 {source="https://clinicalgenome.org/affiliation/40135/"} ! congenital disorder of glycosylation +intersection_of: MONDO:0015286 ! congenital disorder of glycosylation +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/28287 ! ALG14 +property_value: http://purl.org/dc/terms/creator https://orcid.org/0000-0001-5208-3432 +property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7389" xsd:anyURI + [Term] id: MONDO:0100557 name: RBFOX2-related congenital heart disorder