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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Parkinson's disease 20
Summary
- Synonym
-
- early-onset Parkinson disease 20
- early-onset Parkinson's disease 20
- Definition
- An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22.
- Super Class
- autosomal recessive disease early-onset Parkinson's disease
External Links
- Disease Ontology
- DOID:0060898
- Mondo Disease Ontology
- OMIM
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43426 | Synaptojanin-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012638 | Abnormal nervous system physiology |
| HP:0002066 | Gait ataxia |
| HP:0002650 | Scoliosis |
| HP:0000338 | Hypomimic face |
| HP:0002304 | Akinesia |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0001332 | Dystonia |
| HP:0012444 | Brain atrophy |
| HP:0002063 | Rigidity |
| HP:0002540 | Inability to walk |
