Version: 8.0.0
Date: Tue Jan 28 2025
Fanconi-Bickel syndrome
DOID:0070562
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Fanconi-Bickel syndrome

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.
Synonyms
  • FBS
  • glycogen storage disease XI
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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