Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613643 http://purl.bioontology.org/ontology/OMIM/613643
Preferred Name	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Synonyms	PARK5
Type	http://www.w3.org/2002/07/owl#Class

altLabel	PARK5
prefLabel	PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Gene Symbol	PARK5 UCHL1 SPG79 NDGOA SPG79A
Scope Statement	Onset in fifth decade [MISCELLANEOUS] One German family has been described [MISCELLANEOUS] Susceptibility conferred by mutation in the ubiquitin C-terminal esterase L1 gene (UCHL1, 191342.0001) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000765 http://purl.bioontology.org/ontology/OMIM/MTHU003334 http://purl.bioontology.org/ontology/OMIM/MTHU003683
tui	T033
Gene Locus	4p14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613643
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3150899
OMIM Entry Type	3
OMIM MimType Value	pound

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