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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/128100
http://purl.bioontology.org/ontology/OMIM/128100
|
|---|---|
| Preferred Name | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT |
| Synonyms |
EOTD
DYT1
DYSTONIA MUSCULORUM DEFORMANS 1
EARLY-ONSET TORSION DYSTONIA
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
EOTD
DYT1
DYSTONIA MUSCULORUM DEFORMANS 1
EARLY-ONSET TORSION DYSTONIA
|
|---|---|
| prefLabel | DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
|
| Gene Symbol |
DYT1
TOR1A
AMC5
|
| Scope Statement | Incomplete penetrance (as low as 30% in some cases) [MISCELLANEOUS]
High incidence among Ashkenazi Jews [MISCELLANEOUS]
Onset in mid to late childhood [MISCELLANEOUS]
Caused by mutations in the torsion dystonia-1 gene (DYT1, 605204.0001). [MOLECULAR BASIS]
Wide phenotypic variability [MISCELLANEOUS]
Occasional adult onset [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 9q34
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 128100
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3888090
C1851945
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |