| Metadata | |
|---|---|
| ID | DOID:0070562 |
| Name | Fanconi-Bickel syndrome |
| 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/ |
| Xrefs | |
| SKOS |
exactMatch MIM:227810 exactMatch ORDO:2088 exactMatch UMLS_CUI:C3495427 exactMatch NCI:C168998 exactMatch GARD:2268 exactMatch MESH:D005198 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
FBS [EXACT] glycogen storage disease XI [EXACT] glycogenosis type XI [EXACT] glycogenosis, Fanconi type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |