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Parkinson's disease 23
Summary
- Synonym
-
- autosomal recessive early-onset Parkinson disease 23
- autosomal recessive early-onset Parkinson's disease 23
- Definition
- An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060896
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q709C8 | Intermembrane lipid transfer protein VPS13C |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000741 | Apathy |
| HP:0100710 | Impulsivity |
| HP:0001347 | Hyperreflexia |
| HP:0000727 | Frontal lobe dementia |
| HP:0002578 | Gastroparesis |
| HP:0000551 | Color vision defect |
| HP:0002019 | Constipation |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0000739 | Anxiety |
| HP:0100660 | Dyskinesia |
