- Pleural effusion (HP:0002202): The presence of an excessive amount of fluid in the pleural cavity. Evidence: IEA. (OMIM:602248)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: PCS. (PMID:19249895)
- Constrictive pericarditis (HP:0002563): Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. Evidence: IEA. (OMIM:602248)
- Gastrointestinal infarctions (HP:0005244). Evidence: IEA. (OMIM:602248)
- Abnormal conjunctiva morphology (HP:0000502): An abnormality of the conjunctiva. Evidence: IEA. (OMIM:602248)
- Papule (HP:0200034): A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. Evidence: PCS. (PMID:19249895)
- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: IEA. (OMIM:602248)
- 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:602248)
These phenotypes are associated with the disease malignant atrophic papulosis (OMIM:602248).