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- B0fd8e55c6ceab03a0f0bb60d32317976 hasDbXref "Orphanet:182050" @default.
- B0fd8e55c6ceab03a0f0bb60d32317976 type Axiom @default.
- B0fd8e55c6ceab03a0f0bb60d32317976 annotatedProperty IAO_0000115 @default.
- B0fd8e55c6ceab03a0f0bb60d32317976 annotatedSource MONDO_0015912 @default.
- B0fd8e55c6ceab03a0f0bb60d32317976 annotatedTarget "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." @default.