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| Term | Fanconi-Bickel syndrome | ID (Ontology) | DOID:0070562 (Human Disease) |
| 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. | ||
| Also Known As | "FBS" ; "glycogen storage disease XI" ; "glycogenosis type XI" (for all, see Synonyms field below) | ||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease__ carbohydrate metabolic disorder | |__glucose metabolism disease___| Fanconi-Bickel syndrome 5 rec. |
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autosomal recessive disease glucose metabolism disease |
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External Crossreferences & Linkouts
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GARD:2268 MESH:D005198 MIM:227810 NCI:C168998 ORDO:2088 UMLS_CUI:C3495427 |
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