Parkinson Disease 6, Early Onset

Preferred Label : Parkinson Disease 6, Early Onset;

NCIt synonyms : PARK6;

NCIt definition : An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PINK1 gene, encoding serine/threonine-protein kinase PINK1, mitochondrial.;

Details

Origin ID

C184990;

UMLS CUI

C1853833;

Currated CISMeF NLP mapping
- Parkinson disease 6, autosomal recessive early-onset [OMIM Phenotype]
- Parkinson's disease 6 [DO Concept]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH concept]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH Supplementary 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 6, autosomal recessive early-onset [OMIM Phenotype]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH Supplementary Concept]
- parkinson disease 6, autosomal recessive Early-Onset [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PINK1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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