Parkinson disease 5, autosomal dominant, susceptibility to

Preferred Label : Parkinson disease 5, autosomal dominant, susceptibility to;

Symbol : PARK5;

CISMeF acronym : PARK5;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the ubiquitin C-terminal esterase L1 gene (UCHL1, 191342.0001);

Prefixed ID : #613643;

Details

Origin ID

613643;

UMLS CUI

C3150899;

Automatic exact mappings (from CISMeF team)
- Parkinson disease UCHL-1 gene mutations 4p14 [ICD-11 More detail]
- UCHL1 wt Allele [NCIt concept]
- Young-onset Parkinson disease [ORDO Disease]
- symbol withdrawn PARK5 [HGNC gene]
CISMeF manual mappings
- parkinson disease 5 [MeSH Supplementary Concept]
Genes related to phenotype
- Ubiquitin carboxyl-terminal esterase l1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Incomplete penetrance [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Postural instability [HPO term]
- Rigidity [HPO term]
ORDO concept(s)
- Young-onset Parkinson disease [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients