Parkinson Disease 8, Autosomal Dominant

Preferred Label : Parkinson Disease 8, Autosomal Dominant;

NCIt synonyms : PARK8;

NCIt definition : An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the LRRK2 gene, encoding leucine-rich repeat serine/threonine-protein kinase 2.;

Details

Origin ID

C198605;

UMLS CUI

C1846862;

Automatic exact mappings (from CISMeF team)
- Parkinson disease LRRK2 gene mutation 12p11.23-q13.11 [ICD-11 More detail]
Currated CISMeF NLP mapping
- Parkinson disease 8, autosomal dominant [OMIM Phenotype]
- Parkinson's disease 8 [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 8, autosomal dominant [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- LRRK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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