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hypertrophic cardiomyopathy 20

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the NEXN gene.
Uniprot Description A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Disease Ontology Description A familial hypertrophic cardiomyopathy that hhas_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1.
Mondo Term and Equivalent IDs
MONDO:0013477:  hypertrophic cardiomyopathy 20
UMLS:C3151267: