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Summary Literature (0)
DOID:3191 - nemaline myopathy


Disease Ontology Definition:A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies.

Synonyms: Nemaline body disease, nemaline rod myopathy, rod body disease, rod myopathy

Xenbase Genes : tnnt1, acta1, neb, klhl40, mypn, kbtbd13, cfl2, lmod3, klhl41, tpm3, tpm2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0018958 - nemaline myopathy


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): congenital myopathy (is_a), congenital structural myopathy (is_a)