Matches in Ubergraph for { <https://frink.apps.renci.org/.well-known/genid/Bea0f028129feb6b6e7bb258e7b3f0475> ?p ?o ?g. }
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- Bea0f028129feb6b6e7bb258e7b3f0475 hasDbXref "Orphanet:16" @default.
- Bea0f028129feb6b6e7bb258e7b3f0475 type Axiom @default.
- Bea0f028129feb6b6e7bb258e7b3f0475 annotatedProperty IAO_0000115 @default.
- Bea0f028129feb6b6e7bb258e7b3f0475 annotatedSource MONDO_0010563 @default.
- Bea0f028129feb6b6e7bb258e7b3f0475 annotatedTarget "Blue cone monochromatism (BCM) is a recessive X-linked disease characterized by severely impaired color discrimination, low visual acuity, nystagmus, and photophobia, due to dysfunction of the red (L) and green (M) cone photoreceptors. BCM is as an incomplete form of achromatopsia." @default.