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Diseases

Oculocutaneous Albinism

Oculocutaneous Albinism

Synonym(s) - Albinism, Tyrosinase-Negative - Albinism, Yellow-Mutant - Oculocutaneous Albinism - Tyrosinase-Negative Albinism - Yellow-Mutant Albinism

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.

Broader term(s)

  • Skin and Connective Tissue Diseases
  • Skin Diseases
  • Pigmentation Disorders
  • Hypopigmentation
  • Albinism
  • Albinism, Oculocutaneous

See also

  • Hermanski-Pudlak Syndrome

Summary

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