DO_rare_slim has material basis in autosomal recessive disease platelet-type bleeding disorder 22 DOID:0061329 MIM:618462 A blood platelet disease characterized by impaired platelet aggregation due to intracellular signaling defects. Patients present in the first decade with spontaneous subcutaneous bleeding and excessive bleeding after minor injuries and that has_material_basis_in homozygous mutation in the EPHB2 gene on chromosome 1p36.12. disease_ontology BDPLT22 blood platelet disease autosomal recessive inheritance