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- B8b802bb0f86553ccbe16b91c1b889872 NCIT_P378 "NCI" @default.
- B8b802bb0f86553ccbe16b91c1b889872 type Axiom @default.
- B8b802bb0f86553ccbe16b91c1b889872 annotatedProperty IAO_0000115 @default.
- B8b802bb0f86553ccbe16b91c1b889872 annotatedSource NCIT_C192089 @default.
- B8b802bb0f86553ccbe16b91c1b889872 annotatedTarget "An autosomal recessive condition caused by mutation(s) in the KCNV2 gene, encoding potassium voltage-gated channel subfamily V member 2. It is characterized by photophobia, progressive loss of visual acuity and reduced color discrimination." @default.