Parkinson Disease 14, Autosomal Recessive

Preferred Label : Parkinson Disease 14, Autosomal Recessive;

NCIt synonyms : PARK14;

NCIt definition : An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PLA2G6 gene, encoding 85/88 kDa calcium-independent phospholipase A2.;

Details

Origin ID

C201519;

UMLS CUI

C2751842;

Automatic exact mappings (from CISMeF team)
- phospholipase A2 group VI [ORDO Gene]
Currated CISMeF NLP mapping
- Adult-onset dystonia-parkinsonism [ORDO Disease]
- Dystonia-Parkinsonism, Adult-Onset [MeSH Supplementary Concept]
- Parkinson disease 14, autosomal recessive [OMIM Phenotype]
- Parkinson's disease 14 [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)
- Adult-onset dystonia parkinsonism (disorder) [SNOMED CT concept]
- Dystonia-Parkinsonism, Adult-Onset [MeSH Supplementary Concept]
- Dystonia-Parkinsonism, Adult-Onset [MeSH concept]
- Parkinson disease 14, autosomal recessive [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- PLA2G6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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