" /> Albinism, oculocutaneous, type III - CISMeF





Preferred Label : Albinism, oculocutaneous, type III;

Symbol : OCA3;

CISMeF acronym : OCA3; ROCA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Albinism III; XANTHISM; Oculocutaneous albinism, type III; Rufous oculocutaneous albinism; ROCA;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosinase-related protein 1 gene (TYRP1, 115501.0001);

Laboratory abnormalities : Normal tyrosinase;

Prefixed ID : #203290;

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01/05/2025


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