hypertrophic cardiomyopathy 4

Summary

DOID:0110310 - hypertrophic cardiomyopathy 4

Disease Ontology Definition:A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11.

Synonyms: cardiomyopathy, familial hypertrophic, 4, CMH4

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

: mybpc3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0007268 - hypertrophic cardiomyopathy 4

MONDO:0007268 - hypertrophic cardiomyopathy 4

MIM:

MIM:115197 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4

MIM:115197 - CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4; CMH4

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)