Oculocutaneous Albinism

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.

Also Known As:

Albinism, Yellow Mutant; Albinism, Oculocutaneous; Yellow Mutant Albinism; Albinism, Tyrosinase Negative; Albinism, Tyrosinase Positive; Mutant Albinism, Yellow; Mutant Albinisms, Yellow; Tyrosinase-Negative Albinism; Tyrosinase-Positive Albinism; Yellow-Mutant Albinism; Albinism, Tyrosinase-Negative; Albinism, Tyrosinase-Positive; Albinism, Yellow-Mutant

Eye Diseases: 3620
- Hereditary Eye Diseases: 19
  - Albinism: 494
    - Oculocutaneous Albinism: 368
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 494
        Oculocutaneous Albinism: 368
  - Genetic Skin Diseases: 51
    - Albinism: 494
      - Oculocutaneous Albinism: 368
  - Hereditary Eye Diseases: 19
    - Albinism: 494
      - Oculocutaneous Albinism: 368
Skin and Connective Tissue Diseases
- Skin Diseases: 13402
  - Pigmentation Disorders: 152
    - Hypopigmentation: 847
      - Albinism: 494
        Oculocutaneous Albinism: 368
  - Genetic Skin Diseases: 51
    - Albinism: 494
      - Oculocutaneous Albinism: 368
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 494
        Oculocutaneous Albinism: 368

Ramon Jauregui Selected Research

Ramon Jauregui Research Topics

Disease

Drug/Important Bio-Agent (IBA)