Search Ontology:
Human Disease

Fanconi-Bickel syndrome

Term ID
DOID:0070562
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. https://pubmed.ncbi.nlm.nih.gov/3153325/
References
Ontology
Human Disease   ( DOID:0070562 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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