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Metadata
ID	DOID:2749
Name	glycogen storage disease Ia
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. http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I, https://pubmed.ncbi.nlm.nih.gov/8211187/
Xrefs	GARD:7864 MIM:232200 ORDO:79258
Subsets	DO_rare_slim
Parent Relationships	is_a glycogen storage disease I is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance has symptom some hepatomegaly