muscular dystrophy, Limb-Girdle, type 2I

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

MeSH note : mutation in FKRP;

MeSH synonym : LGMD2I;

Origin ID

C564612;

UMLS CUI

C1846672;

Currated CISMeF NLP mapping
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 [NCIt concept]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 [OMIM Phenotype]
- autosomal recessive limb-girdle muscular dystrophy type 2I [DO Concept]
MeSH term(s) associated for indexing
- muscular dystrophies, limb-girdle [MeSH Descriptor]
ORDO relation(s)
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
Record concept(s)
- muscular dystrophy, Limb-Girdle, type 2I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive limb girdle muscular dystrophy type 2I (disorder) [SNOMED CT concept]
- FKRP-related limb-girdle muscular dystrophy R9 [ORDO Disease]
- Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5 [NCIt concept]
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 [OMIM Phenotype]