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Metadata
ID DOID:3191
Name nemaline myopathy
Definition 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.
http://en.wikipedia.org/wiki/Nemaline_myopathy, http://ghr.nlm.nih.gov/condition/nemaline-myopathy, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract
Xrefs

GARD:12033

ICD10CM:G71.2

MESH:D017696

MTHICD9_2006:359.0

OMIM:PS161800

ORDO:607

SNOMEDCT_US_2018_03_01:75072002

UMLS_CUI:C0206157

Subsets

DO_FlyBase_slim

DO_rare_slim

Synonyms

Nemaline body disease [EXACT]

nemaline rod myopathy [EXACT]

rod myopathy [EXACT]

Parent Relationships

is_a congenital structural myopathy

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