muscular dystrophy, Limb-Girdle, type 1E

Preferred Label : muscular dystrophy, Limb-Girdle, type 1E;

MeSH note : mutation in DNAJB6;

MeSH synonym : LGMD1E;

Origin ID

C566589;

UMLS CUI

C3148763;

Currated CISMeF NLP mapping
- Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) [SNOMED CT concept]
- Autosomal dominant limb-girdle muscular dystrophy type 1E [ORDO Disease]
- Muscular dystrophy, limb-girdle, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant limb-girdle muscular dystrophy type 1 [DO Concept]
- limb girdle muscular dystrophy type 1e [Disease (Nov.)]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- muscular dystrophy, Limb-Girdle, type 1E [MeSH concept]
See also inter- (CISMeF)
- Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant limb-girdle muscular dystrophy type 1E [ORDO Disease]
- Muscular dystrophy, limb-girdle, autosomal dominant 1 [OMIM Phenotype]