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Summary Literature (0)
DOID:0050663 - Bethlem myopathy

Disease Ontology 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.

Synonyms: benign congenital muscular dystrophy

Xenbase Genes : col6a3, col6a1, col12a1, col6a2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008029 - Bethlem myopathy


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital muscular dystrophy (is_a)