MONDO:0012481

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0012481/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "developmental anomaly of metabolic origin",
11        "connective tissue disorder",
12        "periodic fever syndrome",
13        "sterol metabolism disorder",
14        "musculoskeletal system disease",
15        "hereditary periodic fever syndrome",
16        "eye disease",
17        "autoinflammatory syndrome",
18        "disorder of development or morphogenesis",
19        "mevalonic aciduria",
20        "experimental factor",
21        "hereditary disease",
22        "head and neck disorder",
23        "rheumatic disorder",
24        "disease of orbital region",
25        "disorder of visual system",
26        "skeletal system disease",
27        "connective tissue disease",
28        "entity",
29        "continuant",
30        "realizable",
31        "human disease",
32        "sterol biosynthesis disorder",
33        "syndromic dyslipidemia",
34        "metabolic disease",
35        "steroid metabolism disease",
36        "hereditary disorder of connective tissue",
37        "eye disorder",
38        "rheumatic disease",
39        "developmental defect during embryogenesis",
40        "inherited lipid metabolism disorder",
41        "disease",
42        "genetic disorder",
43        "inborn errors of metabolism",
44        "syndromic disease",
45        "mevalonate kinase deficiency",
46        "disorder of orbital region",
47        "disposition",
48        "characteristic"
49    ],
50    "audit": {},
51    "creation_timestamp": "2023-11-03T21:56:39.876130+00:00",
52    "name": "MONDO_0012481",
53    "ontology": "MONDO",
54    "release_timestamp": "2023-11-06T21:07:25.553034+00:00",
55    "schema_version": "4",
56    "status": "released",
57    "submitted_by": {
58        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
59        "title": "Ingrid Youngworth"
60    },
61    "summary": "mevalonic aciduria",
62    "synonyms": [
63        "MVA",
64        "hyperimmunoglobulin D with periodic fever syndrome",
65        "HIDS",
66        "MKD",
67        "mevalonic aciduria",
68        "complete mevalonate kinase deficiency"
69    ],
70    "term_id": "MONDO:0012481",
71    "term_name": "mevalonic aciduria",
72    "uuid": "f9643c09-92dc-42e5-b71b-7fdd1c204591"
73}