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ENAlbinism, Oculocutaneous, Type Iii (OCA3)
Alias:
Oculocutaneous Albinism Type 3
Rufous Oculocutaneous Albinism
Oca3
Oculocutaneous Albinism Type Iii
Xanthous Oculocutaneous Albinism
Red Oculocutaneous Albinism
Albinism Iii
Xanthism
Roca
Oculocutaneous Albinism, Type Iii
Albinism, Oculocutaneous, 3
Oca-Iii
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Albinism, Oculocutaneous, Type Iii, also known as oculocutaneous albinism type 3, is related to albinism, oculocutaneous, type ia and albinism, oculocutaneous, type ib. An important gene associated with Albinism, Oculocutaneous, Type Iii is TYRP1 (Tyrosinase Related Protein 1), 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 blue irides
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MALACARDS
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