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DO Term : centronuclear myopathy 1 [DOID:0111223] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
  • synonyms:
  • OMIM:160150,
  • 160150,
  • CNM1
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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