MONDO:0019950

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0019950/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "congenital muscular dystrophy",
11        "neuropathy",
12        "nervous system disease",
13        "musculoskeletal system disorder",
14        "disease",
15        "realizable",
16        "muscular dystrophy",
17        "hereditary neuromuscular disease",
18        "congenital nervous system disorder",
19        "musculoskeletal system disease",
20        "muscular disease",
21        "neuromuscular disease",
22        "human disease",
23        "skeletal muscle disorder",
24        "experimental factor",
25        "characteristic",
26        "hereditary neurological disease",
27        "entity",
28        "continuant",
29        "disposition",
30        "genetic disorder",
31        "muscle tissue disorder",
32        "hereditary skeletal muscle disorder",
33        "nervous system disorder",
34        "myopathy",
35        "hereditary disease"
36    ],
37    "audit": {},
38    "comments": [],
39    "creation_timestamp": "2023-11-03T21:53:20.473690+00:00",
40    "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted.",
41    "name": "MONDO_0019950",
42    "ontology": "MONDO",
43    "release_timestamp": "2023-11-06T21:39:35.130108+00:00",
44    "schema_version": "5",
45    "status": "released",
46    "submitted_by": {
47        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
48        "title": "Ingrid Youngworth"
49    },
50    "summary": "congenital muscular dystrophy",
51    "synonyms": [
52        "CMD",
53        "MDC"
54    ],
55    "term_id": "MONDO:0019950",
56    "term_name": "congenital muscular dystrophy",
57    "uuid": "f4d4e02b-c423-4d45-9a7a-38b0470a7828"
58}