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Repository for lectin-assisted multimodality data
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MIRAGE
hereditary fructose intolerance syndrome
Summary
- Synonym
-
- Fructosaemia
- Fructose-1,6-bisphosphate aldolase B deficiency
- Fructosemia
- 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.
- Super Class
- carbohydrate metabolic disorder
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001397 | Hepatic steatosis |
| HP:0003128 | Lactic acidosis |
| HP:0002904 | Hyperbilirubinemia |
