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Summary Literature (0)
DOID:0080098 - myofibrillar myopathy 7

Disease Ontology Definition:A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22.

Synonyms: alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy,

Xenbase Genes : ky

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014922 - myofibrillar myopathy 7


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), myofibrillar myopathy (is_a), myopathy (is_a)