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Disease Ontology Browser
Fanconi-Bickel syndrome (DOID:0070562)
Alliance: disease page
Synonyms: FBS; glycogen storage disease XI; glycogenosis type XI; glycogenosis, Fanconi type
Alt IDs: OMIM:227810, MESH:D005198, NCI:C168998, ORDO:2088, UMLS_CUI:C3495427
Definition: A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
08/21/2024
MGI 6.24 		The Jackson Laboratory