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Echinobase
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,

Echinobase Genes :


OMIM:
MIM:158810 - bethlem myopathy

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

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