Human genes for gray platelet syndrome
Gray platelet syndrome [DOID:0111044]
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.
Synonyms: gray platelet syndrome, DOID:0111044, gray platelet disease, gray platelet disorder, gray platelet syndromes ...