" /> Oculocutaneous albinism type 1A - CISMeF





Preferred Label : Oculocutaneous albinism type 1A;

ICD-11 definition : OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.;

ICD-11 synonym : OCA1A - [Oculocutaneous albinism type 1A]; Albino; Tyrosinase-negative oculocutaneous albinism;

ICD-11 acronym : OCA1A;

ICD-11 inclusion : Albino;

Détails


Position du mot-clé dans l'(les) arborescence(s) : arborescence

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OCA-1 is caused by mutation in the tyrosinase gene (TYR). OCA-1A is due to complete absence of TYR and a more severe clinical phenotype than OCA-1B.

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27/07/2025


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