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MIRAGE
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
- GARD
- WikiPathways (from TogoID)
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51570 | Galactokinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012024 | Hypergalactosemia |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0001518 | Small for gestational age |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0001250 | Seizure |
| HP:0002240 | Hepatomegaly |
| HP:0001270 | Motor delay |
| HP:0001943 | Hypoglycemia |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0000518 | Cataract |
