- von Willebrand's disease 1 [DOID:0060573]
A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
- von Willebrand's disease 3 [DOID:0111054]
A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13.
- Bernard-Soulier syndrome [DOID:2217]
A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.
- von Willebrand's disease 2 [DOID:0060574]
A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13.
- platelet-type bleeding disorder 3 [DOID:0111056]
A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2.
- immunodeficiency 49 [DOID:0111979]
A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.
- immunodeficiency 48 [DOID:0111943]
A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.