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- Bb1ddfb2812daf85c3b7cb63172031d2f NCIT_P378 "NCI" @default.
- Bb1ddfb2812daf85c3b7cb63172031d2f type Axiom @default.
- Bb1ddfb2812daf85c3b7cb63172031d2f annotatedProperty IAO_0000115 @default.
- Bb1ddfb2812daf85c3b7cb63172031d2f annotatedSource NCIT_C192089 @default.
- Bb1ddfb2812daf85c3b7cb63172031d2f 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.