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DOID:2749 - glycogen storage disease Ia
Disease Ontology 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.
Synonyms: Glycogen storage disease, type I (disorder), glycogenosis type I, von Gierke's disease, glycogen storage disease type I, von Gierke disease, deficiency of glucose-6-phosphatase, Glycogen storage disease, type I
Xenbase Genes
:
slc37a4,
g6pc1,
g6pc1.2,
g6pc1.3
| MONDO:0002413 - cervical vertebra |
| MIM:232200 - GLYCOGEN STORAGE DISEASE Ia; GSD1A |
| MIM:232220 - GLYCOGEN STORAGE DISEASE Ib; GSD1B |
| MIM:232240 - GLYCOGEN STORAGE DISEASE Ic; GSD1C |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s):
autosomal recessive disease (is_a),
glycogen storage disease I (is_a),
glycogen storage disease (is_a)