Parkinson disease synuclein gene mutation 4q21.23

Preferred Label : Parkinson disease synuclein gene mutation 4q21.23;

ICD-11 definition : Autosomal Dominant Parkinson Disease due to a mutation in the ?-synuclein gene on chromosome 4 intially described in a large Italian kindred and in three unrelated families of Greek origin.;

ICD-11 synonym : PARK1;

Details

Origin ID

1729164793;

Automatic exact mappings (from CISMeF team)
- Parkinson Disease 1, Autosomal Dominant [NCIt concept]
- Parkinson disease 1, autosomal dominant [OMIM Phenotype]
- SNCA wt Allele [NCIt concept]
- parkinson disease, familial, type 1 [MeSH Supplementary Concept]
- synuclein alpha [ORDO Gene]

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