Preferred Label : Congenital myopathy 7b, myosin storage, autosomal recessive;
Symbol : CMYO7B;
CISMeF acronym : MSMB;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Myopathy, hyaline body, autosomal recessive; Myopathy, myosin storage, autosomal recessive; MSMB;
Description : Hyaline body myopathy is a rare congenital myopathy characterized by subsarcolemmal
hyalinized bodies in type I muscle fibers. See also autosomal dominant hyaline body
myopathy (608358).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the myosin, heavy chain 7, cardiac muscle, beta gene (MYH7,
160760.0035);
Laboratory abnormalities : Increased serum creatine kinase;
Prefixed ID : #255160;
Origin ID : 255160;
UMLS CUI : C1850709;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
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UMLS correspondences (same concept)