JSON

lethal congenital glycogen storage disease of heart

^ http://purl.obolibrary.org/obo/MONDO_0009867

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • ICD10EXP:E74.0+ (Orphanet:439854/ntbt)
  • DOID:0090101 (MONDO:equivalentTo)
  • OMIM:261740 (Orphanet:439854/e)
  • ICD10EXP:G73.6* (Orphanet:439854/ntbt)
  • GARD:0010728 (MONDO:equivalentTo)
  • MESH:C564888 (MONDO:equivalentTo)
  • UMLS:C1849813 (Orphanet:439854)
  • Orphanet:439854 (MONDO:equivalentTo)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4985, https://github.com/monarch-initiative/mondo/issues/4069

definition

Any glycogen storage disease in which the cause of the disease is a mutation in the PRKAG2 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1849813, http://identifiers.org/mesh/C564888, https://omim.org/entry/261740, http://purl.obolibrary.org/obo/Orphanet_439854, http://purl.obolibrary.org/obo/DOID_0090101

has exact synonym

fatal congenital hypertrophic cardiomyopathy due to glycogenosis, fatal congenital nonlysosomal cardiac glycogenosis, fatal congenital hypertrophic cardiomyopathy due to GSD, PRKAG2 glycogen storage disease, glycogen storage disease caused by mutation in PRKAG2, phosphorylase kinase deficiency of heart

has related synonym

glycogen storage disease of heart, lethal congenital, glycogen storage disease of heart, fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

id

MONDO:0009867