X-Linked Dystonia Parkinsonism

Preferred Label : X-Linked Dystonia Parkinsonism;

NCIt synonyms : X-Linked Dystonia-Parkinsonism; XDP; DYT3; Dystonia 3;

NCIt definition : An X-linked recessive inherited movement disorder caused by mutations in and near the TAF1 gene. It is found only in people of Filipino descent. It is characterized by parkinsonism and later in life the development of involuntary, sustained muscle contractions.;

Details

Origin ID

C126330;

UMLS CUI

C1839130;

Automatic exact mappings (from CISMeF team)
- X-linked dystonia parkinsonism [ICD-11 More detail]
Currated CISMeF NLP mapping
- Dystonia 3, torsion, X-linked [OMIM Phenotype]
- 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]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dystonia 3, torsion, X-linked [OMIM Phenotype]
- 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.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- TAF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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