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DO Term : myoclonic dystonia 11 [DOID:0090034] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.
  • synonyms:
  • ICD10CM:G24.1,
  • 159900,
  • ORDO:36899,
  • OMIM:159900
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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