- Recurrent deep vein thrombosis (HP:0004850): Repeated episodes of the formation of a blot clot in a deep vein. Evidence: TAS. (OMIM:612356)
- Disseminated intravascular coagulation (HP:0005521): Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. Evidence: TAS. (OMIM:612356)
- Post-angioplasty coronary artery restenosis (HP:0004761). Evidence: TAS. (OMIM:612356)
- 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:612356)
These phenotypes are associated with the disease heparin cofactor 2 deficiency (OMIM:612356).