glycogen storage disease Ib

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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:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc37a4

MIM:

MIM:232220 - GLYCOGEN STORAGE DISEASE Ib; GSD1B

MIM:232220 - GLYCOGEN STORAGE DISEASE Ib; GSD1B

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), glycogen storage disease I (is_a)