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Echinobase
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,

Echinobase Genes :


OMIM:
MIM:615731 - nemaline myopathy 9; nem9

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

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