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- Bb749bec7e8e7f8e0a3976412bfac3329 hasDbXref "Orphanet:435930" @default.
- Bb749bec7e8e7f8e0a3976412bfac3329 type Axiom @default.
- Bb749bec7e8e7f8e0a3976412bfac3329 annotatedProperty IAO_0000115 @default.
- Bb749bec7e8e7f8e0a3976412bfac3329 annotatedSource MONDO_0008927 @default.
- Bb749bec7e8e7f8e0a3976412bfac3329 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.