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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic vascular anomaly ORPHA:211240
    - Primary lymphedema ORPHA:77240
      - Disorder with multisystemic involvement and primary lymphedema ORPHA:568047
        
        Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic skin disease ORPHA:68346
  - Primary lymphedema ORPHA:77240
    - Disorder with multisystemic involvement and primary lymphedema ORPHA:568047
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic gynecological and obstetrical diseases ORPHA:183731
  - Anomaly of puberty or/and menstrual cycle of genetic origin ORPHA:202940
    - Genetic non-acquired premature ovarian failure ORPHA:485382
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic endocrine disease ORPHA:156638
  - Genetic non-acquired premature ovarian failure ORPHA:485382
    - Turner syndrome ORPHA:881
      - Monosomy X ORPHA:99226
      - Mosaic monosomy X ORPHA:99228
      - Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic central nervous system and retinal vascular disease ORPHA:183503
    - Rare disorder with a moyamoya angiopathy ORPHA:477771
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Genetic infertility ORPHA:275742
  - Rare genetic female infertility ORPHA:400008
    - Rare female infertility due to gonadal dysgenesis ORPHA:399877
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic gynecological and obstetrical diseases ORPHA:183731
  - Genetic disorder of sex development of gynecological interest ORPHA:325665
    - Syndrome with disorder of sex development of gynecological interest ORPHA:325638
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic disorder of sex development ORPHA:325690
    - Sex chromosome disorder of sex development ORPHA:325546
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic endocrine disease ORPHA:156638
  - Genetic disorder of sex development ORPHA:325690
    - Sex chromosome disorder of sex development ORPHA:325546
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic urogenital disease ORPHA:156619
  - Genetic disorder of sex development ORPHA:325690
    - Sex chromosome disorder of sex development ORPHA:325546
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

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 female phenotype ORPHA:263717
        
        Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic urogenital disease ORPHA:156619
  - Genetic urogenital tract malformation ORPHA:156622
    - Syndromic urogenital tract malformation ORPHA:165707
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

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
        
        Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

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
        
        Syndromic epicanthus ORPHA:98574
        
        Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

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
        
        Syndromic epicanthus ORPHA:98574
        
        Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Genetic renal or urinary tract malformation ORPHA:183539
    - Syndromic renal or urinary tract malformation ORPHA:93547
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

Rare genetic disease ORPHA:98053
- Rare genetic renal disease ORPHA:98056
  - Genetic renal or urinary tract malformation ORPHA:183539
    - Syndromic renal or urinary tract malformation ORPHA:93547
      - Turner syndrome ORPHA:881
        
        Monosomy X ORPHA:99226
        
        Mosaic monosomy X ORPHA:99228
        
        Turner syndrome due to structural X chromosome anomalies ORPHA:99413

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