MONDO:0012556

released
1{
2    "@context": "/terms/",
3    "@id": "/phenotype-terms/MONDO_0012556/",
4    "@type": [
5        "PhenotypeTerm",
6        "OntologyTerm",
7        "Item"
8    ],
9    "ancestors": [
10        "DK1-congenital disorder of glycosylation",
11        "realizable",
12        "disorder of multiple glycosylation",
13        "dilated cardiomyopathy",
14        "cardiovascular disorder",
15        "characteristic",
16        "entity",
17        "musculoskeletal system disease",
18        "human disease",
19        "skin disorder",
20        "muscle tissue disorder",
21        "intrinsic cardiomyopathy",
22        "experimental factor",
23        "genetic disorder",
24        "integumentary system disorder",
25        "disposition",
26        "hereditary disease",
27        "disease",
28        "familial cardiomyopathy",
29        "cardiomyopathy",
30        "familial dilated cardiomyopathy",
31        "congenital disorder of glycosylation type I",
32        "cardiovascular disease",
33        "disorder of glycosylation",
34        "heart disease",
35        "hereditary skin disorder",
36        "cardiogenetic disease",
37        "continuant",
38        "heart disorder",
39        "skin disease",
40        "inborn errors of metabolism",
41        "metabolic disease",
42        "congenital disorder of glycosylation",
43        "integumentary system disease",
44        "musculoskeletal system disorder",
45        "syndromic disease"
46    ],
47    "audit": {},
48    "comments": [],
49    "creation_timestamp": "2023-11-03T21:52:59.509800+00:00",
50    "definition": "DK1-CDG is characterized by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.",
51    "name": "MONDO_0012556",
52    "ontology": "MONDO",
53    "release_timestamp": "2023-11-06T21:38:52.085145+00:00",
54    "schema_version": "5",
55    "status": "released",
56    "submitted_by": {
57        "@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
58        "title": "Ingrid Youngworth"
59    },
60    "summary": "DK1-congenital disorder of glycosylation",
61    "synonyms": [
62        "DK1-congenital disorder of glycosylation",
63        "congenital disorder of glycosylation type Im",
64        "CDG syndrome type Im",
65        "dolichol kinase deficiency",
66        "CDG-Im",
67        "congenital disorder of glycosylation type 1m",
68        "carbohydrate deficient glycoprotein syndrome type Im",
69        "CDG1M",
70        "DK1-CDG",
71        "hypotonia and ichthyosis due to dolichol phosphate deficiency"
72    ],
73    "term_id": "MONDO:0012556",
74    "term_name": "DK1-congenital disorder of glycosylation",
75    "uuid": "f0be2091-1c84-4220-b906-eacf14d5ca06"
76}