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Summary Literature (0)
DOID:0110935 - nemaline myopathy 6

Disease Ontology Definition:A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22.

Synonyms: nemaline myopathy 6, autosomal dominant

Xenbase Genes : kbtbd13

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012237 - nemaline myopathy 6

MIM:
MIM:609273 - NEMALINE MYOPATHY 6; NEM6

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

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