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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:0100022 | Abnormality of movement |
| HP:0002362 | Shuffling gait |
| HP:0001621 | Weak voice |
| HP:0008969 | Leg muscle stiffness |
| HP:0001250 | Seizure |
| HP:0004305 | Involuntary movements |
| HP:0002067 | Bradykinesia |
| HP:0001260 | Dysarthria |
| HP:0000605 | Supranuclear gaze palsy |
| HP:0002120 | Cerebral cortical atrophy |
