MONDO:0024534

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0024534/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "skin pigmentation disorder",
11        "hyperpigmentation of the skin",
12        "integumentary system disorder",
13        "disease",
14        "realizable",
15        "disorder of glycosylation",
16        "skin disease",
17        "disorder of fucoglycosan synthesis",
18        "congenital disorder of glycosylation",
19        "human disease",
20        "Dowling-Degos disease 1",
21        "hereditary skin disorder",
22        "inborn errors of metabolism",
23        "experimental factor",
24        "characteristic",
25        "entity",
26        "reticulate pigment disorder",
27        "skin disorder",
28        "glycoprotein metabolism disease",
29        "Dowling-Degos disease",
30        "continuant",
31        "integumentary system disease",
32        "disposition",
33        "genetic disorder",
34        "metabolic disease",
35        "disorder of protein O-glycosylation",
36        "hereditary disease"
37    ],
38    "audit": {},
39    "comments": [],
40    "creation_timestamp": "2023-11-03T21:50:36.804129+00:00",
41    "definition": "Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.",
42    "name": "MONDO_0024534",
43    "ontology": "MONDO",
44    "release_timestamp": "2023-11-06T21:34:03.390570+00:00",
45    "schema_version": "5",
46    "status": "released",
47    "submitted_by": {
48        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
49        "title": "Ingrid Youngworth"
50    },
51    "summary": "Dowling-Degos disease 1",
52    "synonyms": [
53        "Dowling-Degos disease caused by mutation in KRT5",
54        "KRT5 Dowling-Degos disease",
55        "Dowling-Degos disease 1"
56    ],
57    "term_id": "MONDO:0024534",
58    "term_name": "Dowling-Degos disease 1",
59    "uuid": "eed6a20c-5635-4ecb-bc78-b08df3490a71"
60}