inclusion body myopathy 3, autosomal dominant

Preferred Label : inclusion body myopathy 3, autosomal dominant;

MeSH note : mutation in MYHC2A;

MeSH synonym : myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles;

Details

Origin ID

C565311;

UMLS CUI

C1854106;

Currated CISMeF NLP mapping
- Congenital myopathy 6 with ophthalmoplegia [OMIM Phenotype]
MeSH term(s) associated for indexing
- contracture [MeSH Descriptor]
- myositis, inclusion body [MeSH Descriptor]
- ophthalmoplegia [MeSH Descriptor]
Record concept(s)
- inclusion body myopathy 3, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myopathy 6 with ophthalmoplegia [OMIM Phenotype]

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