Albinism, Oculocutaneous

Albinism, okulokutan

Svensk definition

En heterogen grupp autosomala, recessiva störningar med åtminstone fyra erkända typer, som alla har nedsatt pigmentering av hud, hår och ögon. De två vanligaste är tyrosinaspositiv och tyrosinasnegati v.

Engelsk definition

Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

Svenska synonymer

Okulokutan albinism

Engelska synonymer

Oculocutaneous Albinism Albinism, Tyrosinase-Negative Albinism, Tyrosinase Negative Tyrosinase-Negative Albinism Albinism, Tyrosinase-Positive Albinism, Tyrosinase Positive Tyrosinase-Positive Albinism Albinism, Yellow-Mutant Albinism, Yellow Mutant Yellow-Mutant Albinism Yellow Mutant Albinism Mutant Albinism, Yellow Mutant Albinisms, Yellow