x

Share
Share

Search for a classification

return to list of classifications

Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Rare genetic intellectual disability ORPHA:183757
    - Rare genetic syndromic intellectual disability ORPHA:183763
      - Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability ORPHA:611327
        
        48,XXXY syndrome ORPHA:96263

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-intellectual disability ORPHA:611327
      - 48,XXXY syndrome ORPHA:96263

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic difference of sex development ORPHA:325690
    - Sex chromosome difference of sex development ORPHA:325546
      - 48,XXXY syndrome ORPHA:96263

Rare genetic disease ORPHA:98053
- Rare genetic endocrine disease ORPHA:156638
  - Genetic difference of sex development ORPHA:325690
    - Sex chromosome difference of sex development ORPHA:325546
      - 48,XXXY syndrome ORPHA:96263

Rare genetic disease ORPHA:98053
- Rare genetic urogenital disease ORPHA:156619
  - Genetic difference of sex development ORPHA:325690
    - Sex chromosome difference of sex development ORPHA:325546
      - 48,XXXY syndrome ORPHA:96263

Rare genetic disease ORPHA:98053
- Rare chromosomal anomaly ORPHA:68335
  - Sex-chromosome anomaly ORPHA:98155
    - Sex-chromosome number anomaly ORPHA:98156
      - X chromosome number anomaly ORPHA:263714
        
        X chromosome number anomaly with male phenotype ORPHA:263720
        
        48,XXXY syndrome ORPHA:96263

Rare genetic disease ORPHA:98053
- Rare genetic urogenital disease ORPHA:156619
  - Genetic urogenital tract malformation ORPHA:156622
    - Syndromic urogenital tract malformation ORPHA:165707
      - 48,XXXY syndrome ORPHA:96263

Rare genetic disease ORPHA:98053
- Genetic infertility ORPHA:275742
  - Rare genetic male infertility ORPHA:399980
    - Male infertility due to gonadal dysgenesis or sperm disorder ORPHA:399764
      - Male infertility due to gonadal dysgenesis ORPHA:98313
        
        48,XXXY syndrome ORPHA:96263

return to list of classifications

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.