| umls-concept:C0078918 | skos:definition | MSH: 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.,NCI: An autosomal recessive inherited disorder caused by mutations of the OCA2, SLC45A2, TYR and TYRP1 genes. It is characterized by hypopigmentation of the skin, hair, and eyes, resulting in very fair skin, white colored hair, and reduced pigmentation in the iris and retina. Individuals may have vision disturbances and photophobia. | lld:umls |
