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DO Term : Bethlem myopathy [DOID:0050663] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene.
  • synonyms:
  • 158810,
  • MESH:C535436,
  • OMIM:158810,
  • benign congenital muscular dystrophy,
  • GARD:873
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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