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DOID:0090101 - lethal congenital glycogen storage disease of heart
Disease Ontology Definition:A glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material_basis_in heterozygous mutation in the PRKAG2 gene on chromosome 7q36.
Synonyms: fatal congenital nonlysosomal cardiac glycogenosis, fatal congenital hypertrophic cardiomyopathy due to GSD, fatal congenital hypertrophic cardiomyopathy due to glycogenosis, phosphorylase kinase deficiency of heart,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
glycogen storage disease (is_a)