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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic multiple congenital anomalies/dysmorphic syndrome ORPHA:183533
    - Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability ORPHA:330206
      - Blepharo-cheilo-odontic syndrome ORPHA:1997

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic malformation syndrome with odontal and/or periodontal component ORPHA:183580
    - Blepharo-cheilo-odontic syndrome ORPHA:1997

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic head and neck malformation ORPHA:183583
    - Syndrome or malformation associated with head and neck malformations ORPHA:156237
      - Orofacial clefting syndrome ORPHA:139039
        
        Blepharo-cheilo-odontic syndrome ORPHA:1997

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 ectropion ORPHA:519268
        
        Congenital ectropion ORPHA:98570
        
        Blepharo-cheilo-odontic syndrome ORPHA:1997

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 ectropion ORPHA:519268
        
        Congenital ectropion ORPHA:98570
        
        Blepharo-cheilo-odontic syndrome ORPHA:1997

Rare genetic disease ORPHA:98053
- Rare genetic skin disease ORPHA:68346
  - Genetic epidermal appendage anomaly ORPHA:183447
    - Ectodermal dysplasia syndrome ORPHA:79373
      - Blepharo-cheilo-odontic syndrome ORPHA:1997

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Rare developmental defect with skin/mucosae involvement ORPHA:139027
    - Ectodermal dysplasia syndrome ORPHA:79373
      - Blepharo-cheilo-odontic syndrome ORPHA:1997

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