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Parkinson disease 5, autosomal dominant, susceptibility to

^ http://purl.obolibrary.org/obo/MONDO_0013340

An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene. [ MONDO:patterns/disease_series_by_gene MONDO:patterns/inherited_susceptibility ]

Term info

database cross reference
  • OMIM:613643 (MONDO:equivalentTo)
  • UMLS:C3150899 (OMIM:613643)
Subsets

predisposition

abbreviation
PARK5 [ MONDO:Lexical OMIM:613643 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4882, https://github.com/monarch-initiative/mondo/issues/4521

definition

An inherited susceptibility or predisposition to developing young-onset Parkinson disease in which the cause of the disease is a mutation in the UCHL1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3150899, https://omim.org/entry/613643

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0017279

has exact synonym

young-onset Parkinson disease caused by mutation in UCHL1, Parkinson disease 5, autosomal dominant, susceptibility to, Parkinson disease 5, susceptibility to, UCHL1 young-onset Parkinson disease

has related synonym

susceptibility to autosomal dominant Parkinson disease 5, PARK5

id

MONDO:0013340