Parkinson Disease 4, Autosomal Dominant

Preferred Label : Parkinson Disease 4, Autosomal Dominant;

NCIt synonyms : PARK4;

NCIt definition : An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the SNCA gene, encoding alpha-synuclein. Mutation(s) in the SNCA gene are responsible for PARK1 and Lewy body dementia, and have overlapping phenotypes.;

Details

Origin ID

C198604;

UMLS CUI

C1854182;

Currated CISMeF NLP mapping
- Parkinson disease 4, autosomal dominant [OMIM Phenotype]
- Parkinson's disease 4 [DO Concept]
- parkinson disease 4, autosomal dominant lewy body [MeSH Supplementary Concept]
- parkinson disease 4, autosomal dominant lewy body [MeSH concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson disease 4, autosomal dominant [OMIM Phenotype]
- parkinson disease 4, autosomal dominant lewy body [MeSH Supplementary Concept]
- parkinson disease 4, autosomal dominant lewy body [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SNCA Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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