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- Bc5bcd4ee239dff4c39682e361bf5f6d3 hasDbXref "Orphanet:55" @default.
- Bc5bcd4ee239dff4c39682e361bf5f6d3 type Axiom @default.
- Bc5bcd4ee239dff4c39682e361bf5f6d3 annotatedProperty IAO_0000115 @default.
- Bc5bcd4ee239dff4c39682e361bf5f6d3 annotatedSource MONDO_0018910 @default.
- Bc5bcd4ee239dff4c39682e361bf5f6d3 annotatedTarget "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7." @default.