Preferred Label : Muscular dystrophy, limb-girdle, autosomal recessive 1;
Symbol : LGMDR1;
CISMeF acronym : LGMD2A; LGMD2; LGMDR1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2; Muscular dystrophy, pelvofemoral; Leyden-moebius muscular dystrophy; LGMD2; CALPAINOPATHY; Muscular dystrophy, limb-girdle, type 2a; LGMD2A;
Included titles and symbols : Myositis, eosinophilic;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the calpain 3 gene (CAPN3, 114240.0001);
Laboratory abnormalities : Elevated creatine kinase; Transient eosinophilia in first decade;
Prefixed ID : #253600;
Origin ID : 253600;
UMLS CUI : C1869123;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to NTBT