gray platelet syndrome (DOID:0111044)
Alliance: disease page
Synonyms: BDPLT4; GPS; platelet alpha-granule deficiency; platelet-type bleeding disorder 4
Alt IDs: OMIM:139090, ICD10CM:D69.1, MESH:D055652, NCI:C84741, ORDO:721, UMLS_CUI:C0272302
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.