Parkinson Disease 1, Autosomal Dominant

Preferred Label : Parkinson Disease 1, Autosomal Dominant;

NCIt synonyms : PARK1;

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 PARK4 and Lewy body dementia, and have overlapping phenotypes.;

Détails

Origin ID

C198602;

UMLS CUI

C1868595;

Automatic exact mappings (from CISMeF team)
- Parkinson disease synuclein gene mutation 4q21.23 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Parkinson disease 1, autosomal dominant [OMIM Phenotype]
- Parkinson's disease 1 [DO 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 1, autosomal dominant [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- SNCA Gene [NCIt concept]

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