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DO Term : torsion dystonia 2 [DOID:0090038] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.
  • synonyms:
  • 224500,
  • ICD10CM:G24.1,
  • OMIM:224500,
  • ORDO:99657
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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