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Gaucher's disease type III
Summary
- Synonym
-
- GD III
- Gaucher Disease, Chronic Neuronopathic Type
- Gaucher Disease, Juvenile And Adult, Cerebral
- Gaucher Disease, Subacute Neuronopathic Type
- Definition
- A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
- Super Class
- Gaucher's disease autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110959
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001873 | Thrombocytopenia |
| HP:0011001 | Increased bone mineral density |
| HP:0001288 | Gait disturbance |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0000726 | Dementia |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0004382 | Mitral valve calcification |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0000486 | Strabismus |
| HP:0001903 | Anemia |
