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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

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