|
DOID:0111188 - myofibrillar myopathy 9
Disease Ontology Definition:A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31.
Synonyms: Edstrom myopathy, HIBM-ERF, HMERF, Hereditary inclusion body myopathy with early respiratory failure, MFM-titinopathy, MFM9, MPRM, Myofibrillar myopathy-titinopathy, autosomal dominant distal myopathy with early respiratory failure, hereditary myopathy with early respiratory failure, myofibrillar myopathy 9 with early respiratory failure, proximal myopathy with early respiratory muscle involvement,
Xenbase Genes
:
ttn
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee