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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616840
http://purl.bioontology.org/ontology/OMIM/616840
|
|---|---|
| Preferred Name | PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET |
| Synonyms |
PARK23
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PARK23
|
|---|---|
| prefLabel | PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
|
| Gene Symbol |
PARK23
VPS13C
KIAA1421
|
| Scope Statement | Initially responsive to Levodopa, but response is lost later in disease course [MISCELLANEOUS]
Young-adult onset [MISCELLANEOUS]
Patients may become bedridden after several decades [MISCELLANEOUS]
Caused by mutation in the vacuolar protein sorting 13 homolog C gene (VPS13C, 608879.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
Three unrelated patients have been reported (last curated March 2016) [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 15q22.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616840
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4225186
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |