Preferred Label : Myopathy, myofibrillar, 9, with early respiratory failure;
Symbol : MFM9;
CISMeF acronym : HMERF; MPRM; MFM9;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : MPRM; Myopathy, proximal, with early respiratory muscle involvement; Edstrom myopathy; Myopathy, distal, with early respiratory failure, autosomal dominant; Hereditary myopathy with early respiratory failure; HMERF;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the titin gene (TTN, 188840.0011);
Laboratory abnormalities : Increased creatine kinase, mild to moderate;
Prefixed ID : #603689;
Origin ID : 603689;
UMLS CUI : C1863599;
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)