WormBase Tree Display for DO_term: DOID:9869
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| DOID:9869 | Name | hereditary fructose intolerance syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. | ||||
| Synonym | Exact | Fructosaemia | |||
| Fructose-1,6-bisphosphate aldolase B deficiency | |||||
| Fructosemia | |||||
| Parent | Is_a | DOID:2978 | |||
| DB_info | Database | OMIM | disease | 229600 | |
| Attribute_of | Gene_by_orthology | WBGene00011474 |
