hypertrophic cardiomyopathy 1

Summary

DOID:0110307 - hypertrophic cardiomyopathy 1

Disease Ontology Definition:A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12.

Synonyms: CMH1, cardiomyopathy, familial hypertrophic 1,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: actc1, tnnc1, cav3.1, myh6, myh7, cav3.2, calr3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008647 - hypertrophic cardiomyopathy 1

MONDO:0008647 - hypertrophic cardiomyopathy 1

OMIM:

OMIM:192600 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

OMIM:192600 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): hypertrophic cardiomyopathy (is_a)