Lethal Congenital Glycogen Storage Disease Of Heart
Disease ID: disease_node_20393
Connections displayed (default: 10).
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| Dbxref | ICD10CM:E74.0, ICD10CM:G73.6, MIM:261740, ORDO:439854 |
|---|---|
| Subclassof | DOID_0080015, DOID_2747 |
| Data Source | DOID |
| Synonyms | fatal congenital hypertrophic cardiomyopathy due to GSD, fatal congenital hypertrophic cardiomyopathy due to glycogenosis, fatal congenital nonlysosomal cardiac glycogenosis, phosphorylase kinase deficiency of heart |
| Doid Label | lethal congenital glycogen storage disease of heart |
| Doid Description | A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal domit inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. |
| Disease Node Id | disease_node_20393 |
| Doid Id | DOID_0090101 |
| Disease Has Basis In | HP_0001197, SO_0001537 |
| Label | Lethal Congenital Glycogen Storage Disease Of Heart |
- Outgoing r'ship
SUBCLASS_OFto/from Glycogen Storage Disease(ID:disease_node_3514) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Physical Disorder(ID:disease_node_13159) (Disease)