Term Name: | glycogen storage disease Ia |
---|---|
Synonyms: | deficiency of glucose-6-phosphatase, glycogen storage disease type I, glycogenosis type I, von Gierke disease, von Gierke's disease |
Definition: | A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. |
Ontology: | Human Disease [DOID:2749] ( DOID:2749 ) |