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Kotzot-Richter syndrome

Also Known As:

Albinism with immune and hematologic defects; Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies

Networked: 0 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Immune System Diseases: 4321
- Immunologic Deficiency Syndromes: 91
  - Primary Immunodeficiency Diseases: 1189
    - Kotzot-Richter syndrome
Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Hermanski-Pudlak Syndrome: 241
        Kotzot-Richter syndrome
Hemic and Lymphatic Diseases: 6
- Hematologic Diseases: 3366
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
        Kotzot-Richter syndrome
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
        Kotzot-Richter syndrome
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Hermanski-Pudlak Syndrome: 241
        Kotzot-Richter syndrome