| Metadata | |
|---|---|
| ID | DOID:0090101 |
| Name | lethal congenital glycogen storage disease of heart |
| 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. https://ghr.nlm.nih.gov/gene/PRKAG2#conditions, https://www.omim.org/entry/261740 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
fatal congenital hypertrophic cardiomyopathy due to glycogenosis [EXACT] fatal congenital hypertrophic cardiomyopathy due to GSD [EXACT] fatal congenital nonlysosomal cardiac glycogenosis [EXACT] phosphorylase kinase deficiency of heart [EXACT] |
| Parent Relationships |
is_a physical disorder |