OBO ID: DOID:0050663
Term Name: Bethlem myopathy Search Ontology:
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 Bethlem myopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL6A1 Bethlem myopathy 1A 158810
PHENOTYPE No data available

CITATIONS (2)
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