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Concept information

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

Terme préférentiel

Albinism, Oculocutaneous  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts spécifiques

Synonyme(s)

  • Oculocutaneous Albinism

Qualificatif(s) autorisé(s)

Traductions

  • Albinisme oculocutané

    français

  • 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 Date de création 12/02/1990, dernière modification le 01/07/2016