{
"@context": "/terms/",
"@id": "/phenotype-terms/MONDO_0014140/",
"@type": [
"PhenotypeTerm",
"OntologyTerm",
"Item"
],
"ancestors": [
"qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
"muscular disease",
"hereditary disease",
"myopathy caused by variation in GMPPB",
"hereditary skeletal muscle disorder",
"neuromuscular disease",
"disposition",
"genetic disorder",
"disorder of glycosylation",
"qualitative or quantitative defects of alpha-dystroglycan",
"muscle tissue disorder",
"entity",
"myopathy",
"congenital nervous system disorder",
"congenital muscular dystrophy",
"characteristic",
"continuant",
"glycoprotein metabolism disease",
"hereditary neuromuscular disease",
"congenital disorder of glycosylation",
"metabolic disease",
"musculoskeletal system disease",
"nervous system disease",
"muscular dystrophy",
"muscle-eye-brain disease",
"musculoskeletal system disorder",
"neuropathy",
"inborn errors of metabolism",
"muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
"qualitative or quantitative protein defects in neuromuscular diseases",
"realizable",
"muscular dystrophy-dystroglycanopathy, type A",
"nervous system disorder",
"muscular dystrophy-dystroglycanopathy",
"disorder of protein O-glycosylation",
"skeletal muscle disorder",
"disease",
"human disease",
"hereditary neurological disease",
"experimental factor"
],
"audit": {},
"creation_timestamp": "2023-11-03T21:53:15.230829+00:00",
"name": "MONDO_0014140",
"ontology": "MONDO",
"release_timestamp": "2023-11-06T21:39:26.041375+00:00",
"schema_version": "4",
"status": "released",
"submitted_by": {
"@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
"title": "Ingrid Youngworth"
},
"summary": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
"synonyms": [
"muscle-eye-brain-GMPPB related"
],
"term_id": "MONDO:0014140",
"term_name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
"uuid": "fda43c6a-9a40-4f85-bc8b-3ddb65ae06a1"
}