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Bethlem myopathy

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008029:  Bethlem myopathy
GARD:0000873: 
MESH:C535436: 
NCIT:C126688: 
OMIMPS:158810: 
Orphanet:610: 
SCTID:718572004: 
UMLS:C1834674: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)