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DO Term : dystonia 31 [DOID:0060938] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22.
  • synonyms:
  • DYT31,
  • ZECH-BOESCH SYNDROME,
  • OMIM:619565,
  • 619565
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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