Term Name: | Fanconi-Bickel syndrome |
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Synonyms: | FBS, glycogen storage disease XI, glycogenosis type XI, glycogenosis, Fanconi type |
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. |
Ontology: | Human Disease [DOID:0070562] ( DOID:0070562 ) |