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DO Term : torsion dystonia 4 [DOID:0090041] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.
  • synonyms:
  • ORDO:98805,
  • ICD10CM:G24.1,
  • 128101,
  • OMIM:128101
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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