Version: 8.0.0
Date: Tue Jan 28 2025
1 results
Disease Models: Nbeal2<tm1Lex>/Nbeal2<tm1Lex> [background:] involves: 129S5/SvEvBrd * C57BL/6J (Mmu)

gray platelet syndrome

Disease
Source: DOID:0111044
Definition: A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.