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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > 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 > Eye Diseases, Hereditary > Albinism > Albinism, Oculocutaneous
Eye Diseases > Eye Diseases, Hereditary > Albinism > Albinism, Oculocutaneous
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Amino Acid Metabolism, Inborn Errors > Albinism > Albinism, Oculocutaneous
... > Nutritional and Metabolic Diseases > Metabolic Diseases > 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

  • mesh:Descriptor

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 concept

Narrower concepts

Entry terms

  • Oculocutaneous Albinism

Allowable Qualifier(s)

In other languages

  • Albinisme oculocutané

    French

  • Albinisme cutanéo-oculaire
  • Albinisme oculo-cutané
  • AOC (Albinisme Oculo-Cutané)

URI

http://data.loterre.fr/ark:/67375/JVR-NKC9NV75-L

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RDF/XML TURTLE JSON-LD Created 2/12/90, last modified 7/1/16