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glycerol kinase deficiency
Summary
- Definition
- An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21.
- Super Class
- inherited metabolic disorder
External Links
- Disease Ontology
- DOID:0060363
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P32189 | Glycerol kinase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003581 | Adult onset |
| HP:0001510 | Growth delay |
| HP:0007185 | Loss of consciousness |
| HP:0001993 | Ketoacidosis |
| HP:0001254 | Lethargy |
| HP:0002756 | Pathologic fracture |
| HP:0011463 | Childhood onset |
| HP:0001942 | Metabolic acidosis |
| HP:0004322 | Short stature |
| HP:0001249 | Intellectual disability |
