|
DOID:0090101 - lethal congenital glycogen storage disease of heart
Disease Ontology Definition:A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
Synonyms: fatal congenital nonlysosomal cardiac glycogenosis, fatal congenital hypertrophic cardiomyopathy due to glycogenosis, fatal congenital hypertrophic cardiomyopathy due to GSD, phosphorylase kinase deficiency of heart, fatal congenital nonlysosomal cardiac glycogenosis
Echinobase Genes
:
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee