Search Ontology:
Human Disease

Bethlem myopathy

Term ID
DOID:0050663
Synonyms
  • benign congenital muscular dystrophy
Definition
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. https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy
References
Ontology
Human Disease   ( DOID:0050663 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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