Disease association ontology term - MONDO:0015912 - macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Term summary
- ID
- MONDO:0015912
- Name
- macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
- Ontology or CV name
- Disease association
- Definition
- 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.
