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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615530
http://purl.bioontology.org/ontology/OMIM/615530
|
|---|---|
| Preferred Name | PARKINSON DISEASE 20, EARLY-ONSET |
| Synonyms |
PARK20
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | PARK20
|
|---|---|
| prefLabel | PARKINSON DISEASE 20, EARLY-ONSET
|
| Gene Symbol |
DEE53
PARK20
SYNJ1
|
| Scope Statement | L-DOPA-induced dyskinesias [MISCELLANEOUS]
Caused by mutation in the synaptojanin-1 gene (SYNJ1, 604297.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
Onset of parkinsonism in teens or early twenties [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 21q22.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615530
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809824
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |