Preferred Label : Oculocutaneous albinism type 2;
ICD-11 definition : OCA-2 is caused by mutations in the OCA2 (P) gene. Affected individuals have pigmented
hair at birth and may develop iris pigmentation, pigmented melanocytic naevi and freckles
later in life.;
ICD-11 synonym : OCA2 - [Oculocutaneous albinism type 2];
ICD-11 acronym : OCA2;
Origin ID : 2019316252;
Automatic exact mappings (from CISMeF team)
OCA-2 is caused by mutations in the OCA2 (P) gene. Affected individuals have pigmented
hair at birth and may develop iris pigmentation, pigmented melanocytic naevi and freckles
later in life.