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Summary Literature (0)
DOID:0110323 - hypertrophic cardiomyopathy 17

Disease Ontology Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12.

Synonyms: cardiomyopathy familial hypertrophic 17, CMH17

Xenbase Genes : jph2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013474 - hypertrophic cardiomyopathy 17


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): familial hypertrophic cardiomyopathy (is_a), hypertrophic cardiomyopathy (is_a)