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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic congenital limb malformation ORPHA:183536
    - Genetic syndrome with limb malformations as a major feature ORPHA:404577
      - Genetic syndrome with limb reduction defects ORPHA:404574
        
        Karsch-Neugebauer syndrome ORPHA:2329

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Rare genetic bone development disorder ORPHA:404584
    - Dysostosis of genetic origin ORPHA:404568
      - Dysostosis of genetic origin with limb anomaly as a major feature ORPHA:404571
        
        Genetic syndrome with limb reduction defects ORPHA:404574
        
        Karsch-Neugebauer syndrome ORPHA:2329

Rare genetic disease ORPHA:98053
- Rare genetic bone disease ORPHA:183524
  - Dysostosis of genetic origin ORPHA:404568
    - Dysostosis of genetic origin with limb anomaly as a major feature ORPHA:404571
      - Genetic syndrome with limb reduction defects ORPHA:404574
        
        Karsch-Neugebauer syndrome ORPHA:2329

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