Orphanet: Classifications

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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-variable intellectual disability syndrome ORPHA:330197
      - Occipital horn syndrome ORPHA:198

Rare genetic disease ORPHA:98053
- Rare inborn errors of metabolism ORPHA:68367
  - Disorder of metabolite absorption and transport ORPHA:309824
    - Disorder of mineral absorption and transport ORPHA:309836
      - Disorder of copper metabolism ORPHA:309839
        
        Occipital horn syndrome ORPHA:198

Rare genetic disease ORPHA:98053
- Rare genetic skin disease ORPHA:68346
  - Genetic dermis disorder ORPHA:183472
    - Genetic dermis elastic tissue disorder ORPHA:228215
      - Cutis laxa ORPHA:209
        
        Occipital horn syndrome ORPHA:198

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Rare developmental defect with connective tissue involvement ORPHA:139030
    - Cutis laxa ORPHA:209
      - Occipital horn syndrome ORPHA:198

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Rare developmental defect with skin/mucosae involvement ORPHA:139027
    - Cutis laxa ORPHA:209
      - Occipital horn syndrome ORPHA:198

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