muscular dystrophy, congenital, 1C

Preferred Label : muscular dystrophy, congenital, 1C;

MeSH note : mutation in FKRP;

Origin ID

C564691;

UMLS CUI

C1847759;

Currated CISMeF NLP mapping
- Congenital muscular dystrophy type 1C [ORDO Disease]
- Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 [OMIM Phenotype]
- muscular dystrophy-dystroglycanopathy type B5 [DO Concept]
MeSH term(s) associated for indexing
- muscular dystrophies [MeSH Descriptor]
Record concept(s)
- muscular dystrophy, congenital, 1C [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital muscular dystrophy type 1C [ORDO Disease]
- Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 [OMIM Phenotype]
- muscular dystrophy-dystroglycanopathy type B5 [DO Concept]