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Concept information

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

Terme préférentiel

Albinism, Ocular  

Type

  • mesh:Descriptor

Définition

  • Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.

Concept générique

Synonyme(s)

  • Ocular Albinism

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-WK4L23M3-0

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RDF/XML TURTLE JSON-LD Date de création 12/02/1990, dernière modification le 01/07/2016