MONDO:0013523

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0013523/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "primary osteolysis",
11        "genetic disorder",
12        "premature aging syndrome",
13        "continuant",
14        "autosomal recessive disease",
15        "autosomal genetic disease",
16        "experimental factor",
17        "bone disorder",
18        "progeroid syndrome",
19        "developmental defect during embryogenesis",
20        "skeletal system disease",
21        "hereditary disease",
22        "human disease",
23        "skeletal system disorder",
24        "characteristic",
25        "skeletal dysplasia",
26        "disposition",
27        "Nestor-Guillermo progeria syndrome",
28        "musculoskeletal system disorder",
29        "disorder of development or morphogenesis",
30        "disease",
31        "progeria",
32        "realizable",
33        "bone disease",
34        "musculoskeletal system disease",
35        "entity"
36    ],
37    "audit": {},
38    "comments": [],
39    "creation_timestamp": "2023-11-03T21:52:41.630834+00:00",
40    "definition": "A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life.",
41    "name": "MONDO_0013523",
42    "ontology": "MONDO",
43    "release_timestamp": "2023-11-06T21:38:17.513619+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": "Nestor-Guillermo progeria syndrome",
51    "synonyms": [
52        "Nestor-Guillermo progeria syndrome",
53        "BANF1-related neurodevelopmental syndrome",
54        "NGPS"
55    ],
56    "term_id": "MONDO:0013523",
57    "term_name": "Nestor-Guillermo progeria syndrome",
58    "uuid": "fd3ea378-2e28-42b8-b2b9-1e59d9b40408"
59}