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Oculocutaneous albinism type 3

Disease definition

Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA; see this term) characterized by rufous or brown albinism and occurring mainly in the African population.

ORPHA:79433

  • Synonym(s):
    • OCA3
    • Red oculocutaneous albinism
    • Rufous oculocutaneous albinism
    • Xanthous oculocutaneous albinism
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E70.3
  • OMIM: 203290
  • UMLS: C0342683  C2931599
  • MeSH: C537189  C537731
  • GARD: 4039  9641
  • MedDRA: -

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