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 )

Relationships
is a type of: autosomal recessive disease glycogen storage disease I