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Ermine phenotype

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Also Known As:

Cutaneous albinism hermine phenotype; O'Doherty syndrome; Pigmentary disorder with hearing loss

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Otorhinolaryngologic Diseases: 130
- Ear Diseases: 150
  - Hearing Disorders: 223
    - Hearing Loss: 6504
      - Sensorineural Hearing Loss: 2162
        Ermine phenotype: 2
Nervous System Diseases: 6158
- Neurologic Manifestations: 4205
  - Sensation Disorders: 69
    - Hearing Disorders: 223
      - Hearing Loss: 6504
        Sensorineural Hearing Loss: 2162
        Ermine phenotype: 2
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 4205
    - Sensation Disorders: 69
      - Hearing Disorders: 223
        Hearing Loss: 6504
        Sensorineural Hearing Loss: 2162
        Ermine phenotype: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 668
- Inborn Genetic Diseases: 842
Skin and Connective Tissue Diseases
- Skin Diseases: 8226
  - Pigmentation Disorders: 81
    - Hypopigmentation: 598
      - Albinism: 328
        Piebaldism: 85
        Ermine phenotype: 2
  - Genetic Skin Diseases: 21
    - Albinism: 328
      - Piebaldism: 85
        Ermine phenotype: 2
Nutritional and Metabolic Diseases: 2
- Metabolic Diseases: 3200
  - Inborn Errors Metabolism: 588
    - Inborn Errors Amino Acid Metabolism
      - Albinism: 328
        Piebaldism: 85
        Ermine phenotype: 2

Experts

1.	Pacheco, M Cristina: 1 article (06/2009)
2.	Zhao, Huiquan: 1 article (06/2009)
3.	Zarate, Yuri A: 1 article (06/2009)
4.	Gorlin, Robert: 1 article (06/2009)
5.	Bove, Kevin E: 1 article (06/2009)
6.	Hopkin, Robert J: 1 article (06/2009)

Related Diseases

1.	Hearing Loss (Hearing Impairment) 08/01/1988 - "The ermine phenotype: pigmentary-hearing loss heterogeneity."
2.	Deafness (Deaf Mutism) 06/01/2009 - "Ermine phenotype has a distinct clinical presentation compared to other syndromes associated with abnormal pigment and deafness. "