MONDO:0007453

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0007453/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "carbohydrate metabolism disease",
11        "autoimmune disease",
12        "inborn carbohydrate metabolic disorder",
13        "maturity-onset diabetes of the young type 2",
14        "endocrine system disorder",
15        "characteristic",
16        "maturity-onset diabetes of the young",
17        "monogenic diabetes",
18        "pancreas disease",
19        "inborn disorder of amino acid and other organic acid metabolism",
20        "pyruvate metabolism disorder",
21        "glucose metabolism disease",
22        "disorder of glycolysis",
23        "realizable",
24        "experimental factor",
25        "human disease",
26        "digestive system disorder",
27        "disposition",
28        "genetic disorder",
29        "hereditary disease",
30        "diabetes mellitus",
31        "disorder of organic acid metabolism",
32        "inborn disorder of energy metabolism",
33        "immune system disease",
34        "pancreas disorder",
35        "disease",
36        "metabolic disease",
37        "endocrine system disease",
38        "entity",
39        "inborn disorder of purine or pyrimidine metabolism",
40        "continuant",
41        "inborn errors of metabolism",
42        "digestive system disease",
43        "endocrine pancreas disorder"
44    ],
45    "audit": {},
46    "comments": [],
47    "creation_timestamp": "2023-11-03T21:50:01.549573+00:00",
48    "definition": "Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.",
49    "name": "MONDO_0007453",
50    "ontology": "MONDO",
51    "release_timestamp": "2023-11-06T21:32:46.024659+00:00",
52    "schema_version": "5",
53    "status": "released",
54    "submitted_by": {
55        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
56        "title": "Ingrid Youngworth"
57    },
58    "summary": "maturity-onset diabetes of the young type 2",
59    "synonyms": [
60        "maturity-onset diabetes of the young (disease) caused by mutation in GCK",
61        "MODY type 2",
62        "MODY, type II",
63        "MODY glucokinase-related",
64        "glucokinase-associated diabetes mellitus",
65        "GCK-associated diabetes mellitus",
66        "MODY 2 monogenic diabetes type 2",
67        "MODY2",
68        "GCK maturity-onset diabetes of the young (disease)",
69        "maturity onset diabetes of the Young, type 2"
70    ],
71    "term_id": "MONDO:0007453",
72    "term_name": "maturity-onset diabetes of the young type 2",
73    "uuid": "e902acad-4010-4d36-8a4d-cf0d30692f44"
74}