MONDO:0014140

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0014140/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan",
11        "glycoprotein metabolism disease",
12        "skeletal muscle disorder",
13        "characteristic",
14        "neuropathy",
15        "muscular dystrophy-dystroglycanopathy",
16        "musculoskeletal system disease",
17        "realizable",
18        "musculoskeletal system disorder",
19        "disorder of glycosylation",
20        "congenital nervous system disorder",
21        "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
22        "experimental factor",
23        "human disease",
24        "muscle-eye-brain disease",
25        "congenital disorder of glycosylation",
26        "qualitative or quantitative defects of alpha-dystroglycan",
27        "disposition",
28        "myopathy",
29        "hereditary disease",
30        "genetic disorder",
31        "muscle tissue disorder",
32        "hereditary neuromuscular disease",
33        "hereditary skeletal muscle disorder",
34        "metabolic disease",
35        "disease",
36        "neuromuscular disease",
37        "entity",
38        "myopathy caused by variation in GMPPB",
39        "muscular dystrophy-dystroglycanopathy, type A",
40        "hereditary neurological disease",
41        "qualitative or quantitative protein defects in neuromuscular diseases",
42        "muscular disease",
43        "continuant",
44        "congenital muscular dystrophy",
45        "disorder of protein O-glycosylation",
46        "inborn errors of metabolism",
47        "nervous system disease",
48        "muscular dystrophy",
49        "nervous system disorder"
50    ],
51    "audit": {},
52    "comments": [],
53    "creation_timestamp": "2023-11-03T21:53:15.230829+00:00",
54    "definition": "",
55    "name": "MONDO_0014140",
56    "ontology": "MONDO",
57    "release_timestamp": "2023-11-06T21:39:26.041375+00:00",
58    "schema_version": "5",
59    "status": "released",
60    "submitted_by": {
61        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
62        "title": "Ingrid Youngworth"
63    },
64    "summary": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
65    "synonyms": [
66        "muscle-eye-brain-GMPPB related"
67    ],
68    "term_id": "MONDO:0014140",
69    "term_name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14",
70    "uuid": "fda43c6a-9a40-4f85-bc8b-3ddb65ae06a1"
71}