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- OCA2: oculocutaneous albinism II (pink-eye dilution homolog, mouse)
- OCRL: oculocerebrorenal syndrome of Lowe
- OPA3: optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
- OPN1LW: opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan)
- OPN1MW: opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
- OPN1SW: opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan)
- OTC: ornithine carbamoyltransferase
- OTOF: otoferlin
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