myotilinopathy

Preferred Label : myotilinopathy;

MeSH note : mutation in myotilin;

MeSH synonym : myopathy, myofibrillar, Myotilin-Related;

Origin ID

C563775;

UMLS CUI

C3714934;

Automatic exact mappings (from CISMeF team)
- Distal myotilinopathy [ORDO Disease]
- Myopathy, myofibrillar, 3 [OMIM Phenotype]
- Myotilin myopathy [ICD-11 More detail]
- Myotilinopathy [ORDO Disease]
- myofibrillar myopathy 3 [DO Concept]
Currated CISMeF NLP mapping
- myotilin related myofibrillar myopathy [Disease (Nov.)]
MeSH term(s) associated for indexing
- myopathies, structural, congenital [MeSH Descriptor]
Record concept(s)
- myotilinopathy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myopathy, myofibrillar, 3 [OMIM Phenotype]
- myofibrillar myopathy 3 [DO Concept]
- myotilin related myofibrillar myopathy [Disease (Nov.)]