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Summary Literature (0)
DOID:0110929 - nemaline myopathy 9

Disease Ontology Definition:A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31.

Synonyms: NEM9

Xenbase Genes : klhl41

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014326 - nemaline myopathy 9


Other Model Organisms: Alliance, 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)