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DO Term : myoclonic dystonia 34 [DOID:0060957] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22.
  • synonyms:
  • 619724,
  • OMIM:619724
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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