Search Ontology:
Human Disease
glycogen storage disease Ia
- Term ID
- DOID:2749
- 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. (2)
- References
-
- GARD:7864
- MIM:232200
- ORDO:79258
- Ontology
- Human Disease ( DOID:2749 )
- is a type of
-
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