Brown oculocutaneous albinism (Q103983): Difference between revisions
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Indivíduos com BOCA2 podem se apresentar com o fenótipo clássico OCA2 (cabelo loiro/amarelo e íris azul/mel) exceto por uma pigmentação cutânea mais evidente. É causado por mutações no gene OCA2 (P) e ocorre principalmente na África Subsaariana. | |||
| description / en | description / en | ||
Individuals with Brown-OCA2 may present with the classic OCA2 phenotype (yellow/blond hair and blue/hazel irides) except for more evident skin pigmentation. It is caused by mutations in the OCA2 (P) gene and occurs principally in Sub-Saharan Africa. | |||
Revision as of 09:47, 17 August 2026
Individuals with Brown-OCA2 may present with the classic OCA2 phenotype (yellow/blond hair and blue/hazel irides) except for more evident skin pigmentation. It is caused by mutations in the OCA2 (P) gene and occurs principally in Sub-Saharan Africa.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1235873397 |
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| English | Brown oculocutaneous albinism |
Individuals with Brown-OCA2 may present with the classic OCA2 phenotype (yellow/blond hair and blue/hazel irides) except for more evident skin pigmentation. It is caused by mutations in the OCA2 (P) gene and occurs principally in Sub-Saharan Africa. |
