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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:0100018 | Nuclear cataract |
| HP:0001508 | Failure to thrive |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0000252 | Microcephaly |
| HP:0003124 | Hypercholesterolemia |
| HP:0001518 | Small for gestational age |
| HP:0011098 | Speech apraxia |
| HP:0001250 | Seizure |
| HP:0002361 | Psychomotor deterioration |
| HP:0012768 | Neonatal asphyxia |
