muscular dystrophy, Limb-Girdle, type 2J

Preferred Label : muscular dystrophy, Limb-Girdle, type 2J;

MeSH note : mutation in titin (TTN);

MeSH synonym : LGMD2J;

Origin ID

C563854;

UMLS CUI

C1837342;

Currated CISMeF NLP mapping
- Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 10 [OMIM Phenotype]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- muscular dystrophy, Limb-Girdle, type 2J [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2J (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 10 [OMIM Phenotype]
- Titin-related limb-girdle muscular dystrophy R10 [ORDO Disease]
- autosomal recessive limb-girdle muscular dystrophy type 2J [DO Concept]