- Pulmonic valve myxoma (HP:0006691): A benign tumor of connective tissue containing mucous or gelatinous material (myxoma) localized in the pumonic valve. Evidence: TAS. (OMIM:255960)
- Cardiac myxoma (HP:0011672): A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origin and general project from the endocardium into a cardiac chamber. Evidence: TAS. (OMIM:255960)
- Bacterial endocarditis (HP:0006689): A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. Evidence: TAS. (OMIM:255960)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:255960)
These phenotypes are associated with the disease familial atrial myxoma (OMIM:255960).