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Echinobase
Summary Literature (0)
DOID:0081330 - glycogen storage disease Ib


Disease Ontology Definition:A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23.

Synonyms:

Echinobase Genes : slc37a4


OMIM:
MIM:232220 - glycogen storage disease ib; gsd1b

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)