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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare chromosomal anomaly ORPHA:68335
  - Autosomal anomaly ORPHA:98127
    - Autosomal monosomy ORPHA:102020
      - Partial autosomal monosomy ORPHA:98142
        
        Partial deletion of the long arm of chromosome 13 ORPHA:262101
        
        Monosomy 13q34 ORPHA:96168

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 anterior segment of the eye ORPHA:522538
      - Genetic lens and zonula anomaly ORPHA:183607
        
        Rare genetic disorder with lens opacification ORPHA:522546
        
        Syndromic genetic cataract ORPHA:522548
        
        Chromosomal anomaly with cataract ORPHA:98642
        
        Monosomy 13q34 ORPHA:96168

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