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Summary Literature (0)
DOID:0080719 - congenital myopathy 6

Disease Ontology Definition:A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13.

Synonyms: inclusion body myopathy 3, proximal myopathy and ophthalmoplegia,

Xenbase Genes : myh2

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

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