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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110326
OMIM:613876
UMLS:C3151267
MONDO:0013477
High level summary of knowledge for a disease, including descriptions and datasource references.