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torsion dystonia 6

characterized by autosomal dominant inheritance of early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has material basis in heterozygous mutation in the THAP1 gene on chromosome 8p11
MedicalCondition rare_disease Q32038792
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Key Facts

  • Instance of: class of disease[1]
  • Subclass of: generalized dystonia[2], genetic disease[3], autosomal dominant disease[4]
  • NCI Thesaurus ID: C156361[5]
  • Health specialty: neurology[6]
  • Genetic association: THAP1[7]
  • Exact match: http://purl.obolibrary.org/obo/DOID_0090039[8], http://identifiers.org/doid/DOID:0090039[9]
  • On focus list of Wikimedia project: WikiProject Medicine[10]

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [1] ↑ . wikidata.org.
  2. [2] ↑ . Disease Ontology. Retrieved . wikidata.org.
  3. [3] ↑ . Disease Ontology. Retrieved . wikidata.org.
  4. [4] ↑ . Disease Ontology. Retrieved . wikidata.org.
  5. [5] ↑ . wikidata.org.
  6. [6] ↑ . wikidata.org.
  7. [7] ↑ . Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [8] ↑ . Disease Ontology. Retrieved . wikidata.org.
  9. [9] ↑ . Identifiers.org. registry.identifiers.org. Provenance: wikidata.org.
  10. [10] ↑ . wikidata.org.

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APA 4ort.xyz Knowledge Graph. (2026). torsion dystonia 6. Retrieved May 3, 2026, from https://4ort.xyz/entity/torsion-dystonia-6
MLA “torsion dystonia 6.” 4ort.xyz Knowledge Graph, 4ort.xyz, 3 May. 2026, https://4ort.xyz/entity/torsion-dystonia-6.
BibTeX @misc{4ortxyz_torsion-dystonia-6_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{torsion dystonia 6}}, year = {2026}, url = {https://4ort.xyz/entity/torsion-dystonia-6}, note = {Accessed: 2026-05-03}}
LLM prompt According to 4ort.xyz Knowledge Graph (aggregator of Wikidata, Wikipedia, and authoritative open-data sources): torsion dystonia 6 — https://4ort.xyz/entity/torsion-dystonia-6 (retrieved 2026-05-03)

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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 14w ago · JhealdBatch bot · 2026-07-05 view diff on Wikidata ↗
    Mondo id → MONDO_0011264
    Imported from → —
    Nci thesaurus id → C156361
    Umls cui → C1414216
    + 12 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39943|batch #39943]]: deprecate redundant disease superclasses"
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