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- B9caf2e3055cfbe98c656fa3e3e1b2cbe hasDbXref "Orphanet:435930" @default.
- B9caf2e3055cfbe98c656fa3e3e1b2cbe type Axiom @default.
- B9caf2e3055cfbe98c656fa3e3e1b2cbe annotatedProperty IAO_0000115 @default.
- B9caf2e3055cfbe98c656fa3e3e1b2cbe annotatedSource MONDO_0008927 @default.
- B9caf2e3055cfbe98c656fa3e3e1b2cbe annotatedTarget "A rare genetic eye disease characterized by optic disk anomalies (bilateral colobomatous optic disks, retinal vessels arising from the peripheral optic disk) and macular atrophy. Peripapillary chorioretinal atrophy and chorioretinal and iris coloboma have also been described. Patients present with horizontal nystagmus and poor visual acuity." @default.