Preferred Label : Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9;
Symbol : MDDGC9;
CISMeF acronym : LGMD2P; MDDGC9; LGMDR16;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Muscular dystrophy, limb-girdle, type 2p; Muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related; LGMD2P; LGMDR16; Muscular dystrophy, limb-girdle, autosomal recessive 16;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the dystrophin-associated glycoprotein 1 gene (DAG1, 128239.0001);
Laboratory abnormalities : Increased serum creatine kinase;
Prefixed ID : #613818;
Origin ID : 613818;
UMLS CUI : C4511963;
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)