- Abnormal bleeding (HP:0001892, a Human Phenotype Ontology term): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: IEA. (OMIM:188030)
- Platelet antibody positive (HP:0003454, a Human Phenotype Ontology term): The presence in the serum of autoantibodies directed against thrombocytes. Evidence: IEA. (OMIM:188030)
- Thrombocytopenia (HP:0001873, a Human Phenotype Ontology term): A reduction in the number of circulating thrombocytes. Evidence: IEA. (OMIM:188030)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:188030)
These phenotypes are associated with the disease autoimmune thrombocytopenic purpura (OMIM:188030, an entry in Online Mendelian Inheritance in Man).