Parkinson Disease 2, Autosomal Recessive Juvenile

Preferred Label : Parkinson Disease 2, Autosomal Recessive Juvenile;

NCIt synonyms : PARK2;

NCIt definition : An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PRKN gene, encoding E3 ubiquitin-protein ligase parkin.;

Details

Origin ID

C198603;

UMLS CUI

C1868675;

Currated CISMeF NLP mapping
- Parkinson disease 2, autosomal recessive juvenile [OMIM Phenotype]
- Parkinson's disease 2 [DO Concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Parkin rbr e3 ubiquitin protein ligase [OMIM gene]
- parkin RBR E3 ubiquitin protein ligase [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Parkinson disease 2, autosomal recessive juvenile [OMIM Phenotype]
- autosomal recessive juvenile parkinson disease [MeSH concept]
Validated automatic mappings to NTBT
- autosomal recessive juvenile parkinson disease [MeSH concept]
- parkinsonian disorders [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PRKN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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