|
DOID:0111223 - centronuclear myopathy 1
Disease Ontology Definition:An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2.
Synonyms: CNM1,
Echinobase Genes :
MIM:160150 - myopathy, centronuclear, 1; cnm1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee