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DO Term : torsion dystonia 6 [DOID:0090039] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.
  • synonyms:
  • OMIM:602629,
  • ORDO:98806,
  • ICD10CM:G24.1,
  • 602629
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents