{
"@context": "/terms/",
"@id": "/phenotype-terms/MONDO_0012556/",
"@type": [
"PhenotypeTerm",
"OntologyTerm",
"Item"
],
"ancestors": [
"muscle tissue disorder",
"skin disease",
"disease",
"DK1-congenital disorder of glycosylation",
"realizable",
"familial dilated cardiomyopathy",
"disorder of multiple glycosylation",
"congenital disorder of glycosylation",
"experimental factor",
"congenital disorder of glycosylation type I",
"disorder of glycosylation",
"integumentary system disorder",
"musculoskeletal system disorder",
"heart disease",
"syndromic disease",
"hereditary skin disorder",
"cardiomyopathy",
"heart disorder",
"intrinsic cardiomyopathy",
"inborn errors of metabolism",
"cardiogenetic disease",
"characteristic",
"cardiovascular disease",
"familial cardiomyopathy",
"cardiovascular disorder",
"continuant",
"musculoskeletal system disease",
"human disease",
"entity",
"dilated cardiomyopathy",
"skin disorder",
"metabolic disease",
"disposition",
"genetic disorder",
"hereditary disease",
"integumentary system disease"
],
"audit": {},
"creation_timestamp": "2023-11-03T21:52:59.509800+00:00",
"name": "MONDO_0012556",
"ontology": "MONDO",
"release_timestamp": "2023-11-06T21:38:52.085145+00:00",
"schema_version": "4",
"status": "released",
"submitted_by": {
"@id": "/users/85c75ed3-269b-4273-b4ba-e269ee350dd6/",
"title": "Ingrid Youngworth"
},
"summary": "DK1-congenital disorder of glycosylation",
"synonyms": [
"CDG syndrome type Im",
"congenital disorder of glycosylation type Im",
"DK1-congenital disorder of glycosylation",
"CDG-Im",
"congenital disorder of glycosylation type 1m",
"dolichol kinase deficiency",
"CDG1M",
"DK1-CDG",
"carbohydrate deficient glycoprotein syndrome type Im",
"hypotonia and ichthyosis due to dolichol phosphate deficiency"
],
"term_id": "MONDO:0012556",
"term_name": "DK1-congenital disorder of glycosylation",
"uuid": "f0be2091-1c84-4220-b906-eacf14d5ca06"
}