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
Ontology
Human Disease   ( DOID:2749 )
Relationships
is a type of
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Genes Involved
Zebrafish Models