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DO Term : nemaline myopathy 6 [DOID:0110935] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.
  • synonyms:
  • MESH:C538398,
  • 609273,
  • nemaline myopathy 6, autosomal dominant,
  • OMIM:609273
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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