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ENAlbinism, Oculocutaneous, Type Ia (OCA1A)
Alias:
Oculocutaneous Albinism Type 1
Oca1a
Oculocutaneous Albinism, Tyrosinase-Negative
Tyrosinase-Negative Oculocutaneous Albinism
Oca1
Oculocutaneous Albinism Type Ia
Albinism I
Atn
Oculocutaneous Albinism, Tyrosinase Negative
Oculocutaneous Albinism Tyrosinase Negative
Albinism, Oculocutaneous, Type I
Oculocutaneous Albinism, Type I
Oculocutaneous Albinism Type 1a
Albinism, Oculocutaneous, 1a
Albinism Oculocutaneous Ia
Oca-1a
Oca-Ia
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Albinism, Oculocutaneous, Type Ia, also known as oculocutaneous albinism type 1, is related to albinism, oculocutaneous, type ib and oculocutaneous albinism, and has symptoms including photophobia An important gene associated with Albinism, Oculocutaneous, Type Ia is TYR (Tyrosinase), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and Prader-Willi and Angelman syndrome. Affiliated tissues include skin and eye, and related phenotypes are nystagmus and abnormality of visual evoked potentials
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