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Eye Diseases > Eye Diseases, Hereditary > Albinism > Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Albinism > Albinism, Oculocutaneous
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Albinism > Albinism, Oculocutaneous
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Albinism > Albinism, Oculocutaneous
... > Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Albinism, Oculocutaneous
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Albinism, Oculocutaneous
... > Pathological Conditions, Signs and Symptoms > Pathologic Processes > Pigmentation Disorders > Hypopigmentation > Albinism > Albinism, Oculocutaneous
... > Skin and Connective Tissue Diseases > Skin Diseases > Pigmentation Disorders > Hypopigmentation > Albinism > Albinism, Oculocutaneous

Preferred term

Albinism, Oculocutaneous  

Type

  • Topical Descriptor

Broader concept

Narrower concepts

Entry terms

  • Oculocutaneous Albinism

Scope note

  • 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.

History note

  • 91

In other languages

  • silmän ja ihon albinismi

    Finnish

  • albinismus oculocutaneus
  • okulokutaaninen albiinous
  • okulokutaaninen albinismi
  • silmän ja ihon albiinous
  • Okulokutan albinism

    Swedish

  • Albinism, okulokutan
  • Tyrosinasnegativ albinism
  • Tyrosinaspositiv albinism

URI

http://www.yso.fi/onto/mesh/D016115

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