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galactokinase deficiency
Summary
- Synonym
-
- Galactosemia II
- Definition
- A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
- Super Class
- galactosemia
External Links
- Disease Ontology
- DOID:14695
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0002240 | Hepatomegaly |
| HP:0000252 | Microcephaly |
| HP:0004431 | Reduced circulating complement concentration |
| HP:0001433 | Hepatosplenomegaly |
| HP:0012024 | Hypergalactosemia |
| HP:0000842 | Hyperinsulinemia |
| HP:0001943 | Hypoglycemia |
| HP:0012768 | Neonatal asphyxia |
| HP:0001250 | Seizure |
