Emery-Dreifuss muscular dystrophy 4

Preferred Label : Emery-Dreifuss muscular dystrophy 4;

MeSH note : mutations in SYNE1; aka EDMD4;

MeSH synonym : Emery-Dreifuss muscular dystrophy 4, autosomal dominant; EDMD4;

Details

Origin ID

C567831;

UMLS CUI

C2751807;

Currated CISMeF NLP mapping
- Emery-dreifuss muscular dystrophy 4, autosomal dominant [OMIM Phenotype]
- autosomal dominant Emery-Dreifuss muscular dystrophy 4 [DO Concept]
MeSH term(s) associated for indexing
- Autosomal Emery-Dreifuss Muscular Dystrophy [MeSH Descriptor]
- muscular dystrophy, emery-dreifuss [MeSH Descriptor]
Record concept(s)
- Emery-Dreifuss muscular dystrophy 4 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Emery-dreifuss muscular dystrophy 4, autosomal dominant [OMIM Phenotype]

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