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- B5542a122820e35220b43b4fe5cc0970a hasDbXref "Orphanet:55" @default.
- B5542a122820e35220b43b4fe5cc0970a type Axiom @default.
- B5542a122820e35220b43b4fe5cc0970a annotatedProperty IAO_0000115 @default.
- B5542a122820e35220b43b4fe5cc0970a annotatedSource MONDO_0018910 @default.
- B5542a122820e35220b43b4fe5cc0970a 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.