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Summary Literature (0)
DOID:0110934 - nemaline myopathy 7

Disease Ontology Definition:A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13.

Synonyms: NEM7, nemaline myopathy 7, autosomal recessive,

Xenbase Genes : cfl2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012538 - nemaline myopathy 7


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), nemaline myopathy (is_a)