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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare genetic eye disease ORPHA:101435
  - Rare genetic disorder of the visual organs ORPHA:522504
    - Genetic neuro-ophthalmological disease ORPHA:183616
      - Rare genetic ocular motility/alignment disorder ORPHA:522516
        
        Rare genetic neuromuscular disorder with ocular motility/alignment anomaly ORPHA:522522
        
        Oculopharyngeal muscular dystrophy ORPHA:270

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic neuromuscular disease ORPHA:183497
    - Genetic skeletal muscle disease ORPHA:206634
      - Muscular dystrophy ORPHA:98473
        
        Progressive muscular dystrophy ORPHA:206644
        
        Oculopharyngeal muscular dystrophy ORPHA:270

Rare genetic disease ORPHA:98053
- Rare genetic eye disease ORPHA:101435
  - Rare genetic disorder of the visual organs ORPHA:522504
    - Rare genetic disorder of the ocular adnexa ORPHA:522524
      - Rare genetic palpebral disorder ORPHA:522526
        
        Rare genetic eyelid malposition disorder ORPHA:522528
        
        Rare disorder with ptosis ORPHA:98578
        
        Oculopharyngeal muscular dystrophy ORPHA:270

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic developmental defect of the eye ORPHA:183557
    - Rare genetic palpebral disorder ORPHA:522526
      - Rare genetic eyelid malposition disorder ORPHA:522528
        
        Rare disorder with ptosis ORPHA:98578
        
        Oculopharyngeal muscular dystrophy ORPHA:270

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