DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease Fanconi-Bickel syndrome disease_ontology GARD:2268 UMLS_CUI:C3495427 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. GARD:2268 SNOMEDCT_US_2025_09_01:61598006 FBS MESH:D005198 MIM:227810 NCI:C168998 ORDO:2088 DOID:0070562 MESH:D005198 ORDO:2088 NCI:C168998 MIM:227810 UMLS_CUI:C3495427 glycogen storage disease XI glycogenosis type XI glycogenosis type XI is a historical and now discouraged synonym. glycogenosis, Fanconi type glucose metabolism disease autosomal recessive inheritance