nemaline myopathy 4

Preferred Label : nemaline myopathy 4;

CISMeF synonym : cap myopathy, Tpm2-Related;

MeSH synonym : nemaline myopathy caused by mutation in the tropomyosin 2 gene;

Details

Origin ID

C538351;

UMLS CUI

C1836447;

Currated CISMeF NLP mapping
- Congenital myopathy 23 [OMIM Phenotype]
- Nemaline Myopathy 4 [NCIt concept]
- nemaline myopathy 4 [DO Concept]
MeSH term(s) associated for indexing
- myopathies, nemaline [MeSH Descriptor]
Record concept(s)
- Nemaline myopathy 4 [MeSH concept]
- cap myopathy, Tpm2-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital myopathy 23 [OMIM Phenotype]
- Nemaline Myopathy 4 [NCIt concept]
- nemaline myopathy 4 [DO Concept]

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