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nemaline myopathy

Disease Summary
Associated Targets (11)
Tbio

11


GARD Rare
Mondo Description Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.
Disease Ontology Description A congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity; certain muscle fibers show the presence of rod-like structures called nemaline bodies.
Mondo Term and Equivalent IDs
MONDO:0018958:  nemaline myopathy
GARD:0012033: 
MESH:D017696: 
OMIMPS:161800: 
Orphanet:607: 
SCTID:75072002: 
UMLS:C0206157: