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DO Term : Fanconi-Bickel syndrome [DOID:0070562] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • glycogenosis type XI,
  • FBS,
  • OMIM:227810,
  • glycogen storage disease XI,
  • ORDO:2088,
  • 227810,
  • GARD:2268,
  • MESH:D005198,
  • glycogenosis, Fanconi type,
  • NCI:C168998,
  • UMLS_CUI:C3495427
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