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)
OTHER Bethlem myopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COL6A1 Bethlem myopathy 1 158810
COL6A2 Bethlem myopathy 1 158810
COL6A3 Bethlem myopathy 1 158810
ZEBRAFISH MODELS
Fish Conditions Citations
col6a1ama605003/ama605003(TU) standard conditions Radev et al., 2015
PHENOTYPE No data available

CITATIONS (1)