Term Name: Fanconi-Bickel syndrome
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 )

Relationships
is a type of: autosomal recessive disease glucose metabolism disease