MONDO:0012130

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0012130/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "muscle tissue disorder",
11        "disease",
12        "continuant",
13        "disposition",
14        "myopathy",
15        "autosomal dominant distal myopathy",
16        "neuropathy",
17        "hereditary neurological disease",
18        "experimental factor",
19        "hereditary disease",
20        "realizable",
21        "genetic disorder",
22        "hereditary skeletal muscle disorder",
23        "skeletal muscle disorder",
24        "muscular dystrophy",
25        "hereditary neuromuscular disease",
26        "musculoskeletal system disorder",
27        "entity",
28        "nervous system disease",
29        "autosomal genetic disease",
30        "nervous system disorder",
31        "distal myopathy",
32        "neuromuscular disease",
33        "myofibrillar myopathy 2",
34        "muscular disease",
35        "human disease",
36        "characteristic",
37        "musculoskeletal system disease",
38        "autosomal dominant disease"
39    ],
40    "audit": {},
41    "creation_timestamp": "2023-11-03T21:55:16.258028+00:00",
42    "name": "MONDO_0012130",
43    "ontology": "MONDO",
44    "release_timestamp": "2023-11-06T21:04:31.484168+00:00",
45    "schema_version": "4",
46    "status": "released",
47    "submitted_by": {
48        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
49        "title": "Ingrid Youngworth"
50    },
51    "summary": "myofibrillar myopathy 2",
52    "synonyms": [
53        "myopathy, myofibrillar, type 2",
54        "alpha-B crystallinopathy",
55        "autosomal dominant distal myopathy caused by mutation in CRYAB",
56        "late-onset distal crystallinopathy",
57        "myofibrillar myopathy type 2",
58        "CRYAB autosomal dominant distal myopathy"
59    ],
60    "term_id": "MONDO:0012130",
61    "term_name": "myofibrillar myopathy 2",
62    "uuid": "fd5ed70a-125a-42f2-bb33-72a25868f068"
63}