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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:0018958 - nemaline myopathy |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee