Preferred Label : Myopathy, distal, 1;
Symbol : MPD1;
CISMeF acronym : MPD1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Myopathy, late distal hereditary; Laing distal myopathy; Myopathy, distal, early-onset, autosomal dominant;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the myosin, heavy polypeptide-7, cardiac muscle, beta gene (MYH7,
160760.0029);
Laboratory abnormalities : Normal to mildly increased serum creatine kinase;
Prefixed ID : #160500;
Origin ID : 160500;
UMLS CUI : C4552004;
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)