muscular dystrophy, Limb-Girdle, type 2L

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

MeSH note : mutation in ANO5;

MeSH synonym : LGMD2L;

Origin ID

C566968;

UMLS CUI

C1969785;

Currated CISMeF NLP mapping
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
- Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 12 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2L [DO Concept]
- limb girdle muscular dystrophy type 2l [Disease (Nov.)]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
Record concept(s)
- muscular dystrophy, Limb-Girdle, type 2L [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anoctamin-5-related limb-girdle muscular dystrophy R12 [ORDO Disease]
- Autosomal recessive limb girdle muscular dystrophy type 2L (disorder) [SNOMED CT concept]
- Muscular dystrophy, limb-girdle, autosomal recessive 12 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2L [DO Concept]
- limb girdle muscular dystrophy type 2l [Disease (Nov.)]