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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Bethlem myopathy +     
Bethlem Myopathy 1A  
Bethlem Myopathy 1B  
Bethlem Myopathy 1C  
A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A3 gene on chromosome 2q37.
Bethlem Myopathy 2  

Synonyms
Exact Synonyms: BTHLM1C
Primary IDs: OMIM:620726
Definition Sources: OMIM:620726

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