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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:0001637 | Abnormal myocardium morphology |
| HP:0010885 | Avascular necrosis |
| HP:0001789 | Hydrops fetalis |
| HP:0001251 | Ataxia |
| HP:0002653 | Bone pain |
| HP:0012378 | Fatigue |
| HP:0001876 | Pancytopenia |
| HP:0001298 | Encephalopathy |
| HP:0002750 | Delayed skeletal maturation |
| HP:0000790 | Hematuria |
