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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612067
http://purl.bioontology.org/ontology/OMIM/612067
|
|---|---|
| Preferred Name | DYSTONIA 16 |
| Synonyms |
DYT16
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | DYT16
|
|---|---|
| prefLabel | DYSTONIA 16
|
| Gene Symbol |
RAX
DYT16
PRKRA
PACT
|
| Scope Statement | Onset between 7 and 18 years [MISCELLANEOUS]
Some patients become wheelchair-bound [MISCELLANEOUS]
Four unrelated families have been reported (last curated February 2015) [MISCELLANEOUS]
Caused by mutation in the protein kinase, interferon-inducible double-stranded RNA-dependent activator gene (PRKRA, 603424.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q31.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612067
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2677567
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |