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Glycogen Storage Disease Ia

Disease ID: disease_node_20390

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Dbxref	GARD:7864, MIM:232200, ORDO:79258
Subclassof	DOID_0081329, DOID_0050737
Data Source	DOID
Doid Label	glycogen storage disease Ia
Doid Description	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.
Has Symptom	SYMP_0000460
Has Material Basis In	GENO_0000148
Disease Node Id	disease_node_20390
Doid Id	DOID_2749
Label	Glycogen Storage Disease Ia

Outgoing r'ship HAS_SYMPTOM to/from Hepatomegaly(ID:disease_node_3929;disease_node_20958) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Glycogen Storage Disease Type I(ID:disease_node_3508) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)

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