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DO Term : myofibrillar myopathy 11 [DOID:0081338] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11.
  • synonyms:
  • OMIM:619178,
  • 619178
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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