disease has basis in dysfunction of MYH9 syndromic disease May-Hegglin anomaly Alport syndrome with macrothrombocytopenia Alport syndrome with macrothrombocytopenia, formerly An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes. It is characterized by varying degrees of thrombocytopenia that may be associated with purpura and bleeding; it is associated with mutation of the MYH9 gene. Brodie Chole griffin syndrome Dohle leukocyte inclusions with giant platelets Epstein syndrome FTNS Fechtner syndrome GARD:0000179 ICD9:582.89 ICD9:759.89 MESH:C537831 MHA MONDO:0007954 May-Hegglin anomaly May-Hegglin thrombocytopenia NCIT:C131639 NCIT:C131642 NCIT:C131646 NCIT:C131650 OMIM:153640 OMIM:153650 OMIM:155100 OMIM:600208 OMIM:605249 Orphanet:1019 Orphanet:1984 Orphanet:807 Orphanet:850 SBS SCTID:234484005 SCTID:234485006 SCTID:236422008 Sebastian Platelet syndrome Sebastian syndrome UMLS:C0398641 UMLS:C0403445 UMLS:C1834478 UMLS:CN226018 UMLS:CN226030 UMLS:CN226270 bleeding disorder, Platelet-type, 6 giant platelet syndrome with thrombocytopenia macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss macrothrombocytopenia and progressive sensorineural deafness macrothrombocytopenia progressive deafness macrothrombocytopenia with dispersed leukocytic inclusions macrothrombocytopenia with leukocyte inclusions macrothrombocytopenia, nephritis, and deafness macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions matins MYH-9 related disease