has material basis in germline mutation in MYH9 inherited bleeding disorder, platelet-type syndromic disease macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss https://github.com/monarch-initiative/mondo/issues/9909 https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia https://www.malacards.org/card/macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss https://www.malacards.org/card/myh_9_related_disease macrothrombocytopenia and progressive sensorineural deafness OMIM:153640 SCTID:712922002 ICD9:287.33 MONDO:0015912 OMIM:155100 NCIT:C131646 Brodie Chole gryphon syndrome GARD:0000180 Orphanet:1019 SCTID:234484005 SBS MYH9-RD MESH:C537831 Brodie Chole griffin syndrome MYH9-related syndrome giant platelet syndrome with thrombocytopenia Orphanet:807 SCTID:236422008 Fechtner syndrome Epstein syndrome UMLS:C5200934 Orphanet:850 MHA SCTID:234485006 MYH9 related thrombocytopenia MYH9-related disease MYH9-related syndromic thrombocytopenia MYH9 related disorders OMIM:600208 Orphanet:182050 FTNS An inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. MEDGEN:1704278 MYH9-related disorder ICD9:582.89 macrothrombocytopenia progressive deafness MATINS DOID:0060651 OMIM:605249 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss NCIT:C158788 Sebastian platelet syndrome Sebastian syndrome Alport syndrome with macrothrombocytopenia Orphanet:1984 EFO:0009646 May-Hegglin anomaly ICD9:759.89 syndromic constitutional thrombocytopenia