Dystonia 3, torsion, X-linked

Preferred Label : Dystonia 3, torsion, X-linked;

Symbol : DYT3;

CISMeF acronym : DYT3;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : XDP; Torsion dystonia-parkinsonism, filipino type; Dystonia-parkinsonism, X-linked;

Inheritance : X-linked recessive;

Molecular basis : Caused by an SVA retrotransposon insertion in an intron of the TATA-binding protein-associated factor-1 gene (TAF1, 313650.0001);

Prefixed ID : #314250;

Details

Origin ID

314250;

UMLS CUI

C1839130;

Automatic exact mappings (from CISMeF team)
- TAF1 wt Allele [NCIt concept]
- symbol withdrawn DYT3 [HGNC gene]
Currated CISMeF NLP mapping
- X-Linked Dystonia Parkinsonism [NCIt concept]
- X-Linked Dystonia-Parkinsonism [NCIt concept]
- X-linked dystonia parkinsonism (disorder) [SNOMED CT concept]
- X-linked dystonia-parkinsonism [DO Concept]
- X-linked dystonia-parkinsonism [ORDO Disease]
- dystonia 3, torsion, X-Linked [MeSH concept]
- dystonia 3, torsion, X-Linked [MeSH Supplementary Concept]
- x linked dystonia parkinsonism [Disease (Nov.)]
DO Cross reference
- X-linked dystonia-parkinsonism [DO Concept]
Genes related to phenotype
- Taf1 rna polymerase II, tata box-binding protein-associated factor, 250-kd [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Chorea [HPO term]
- Myoclonus [HPO term]
- Parkinsonism with favorable response to dopaminergic medication [HPO term]
- Torsion dystonia [HPO term]
- Tremor [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked dystonia-parkinsonism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-Linked Dystonia Parkinsonism [NCIt concept]
- X-Linked Dystonia-Parkinsonism [NCIt concept]
- X-linked dystonia parkinsonism (disorder) [SNOMED CT concept]
- X-linked dystonia-parkinsonism [ORDO Disease]
- X-linked dystonia-parkinsonism [DO Concept]
- dystonia 3, torsion, X-Linked [MeSH Supplementary Concept]
- dystonia 3, torsion, X-Linked [MeSH concept]
- x linked dystonia parkinsonism [Disease (Nov.)]

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