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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
      - Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome ORPHA:611314
        
        Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic eye disease ORPHA:101435
  - Rare genetic disorder of the visual organs ORPHA:522504
    - Genetic neuro-ophthalmological disease ORPHA:183616
      - Rare genetic ocular motility/alignment disorder ORPHA:522516
        
        Rare genetic disorder with strabismus ORPHA:522518
        
        Syndromic genetic disorder with strabismus ORPHA:522520
        
        Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic eye disease ORPHA:101435
  - Rare genetic disorder of the visual organs ORPHA:522504
    - Genetic neuro-ophthalmological disease ORPHA:183616
      - Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature ORPHA:522506
        
        Ataxia-telangiectasia ORPHA:100

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
      - Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic endocrine disease ORPHA:156638
  - Genetic non-acquired premature ovarian failure ORPHA:485382
    - Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic skin disease ORPHA:68346
  - Genetic dermis disorder ORPHA:183472
    - Genetic skin vascular disorder ORPHA:183478
      - Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Inherited cancer-predisposing syndrome ORPHA:140162
  - Polymalformative genetic syndrome with increased risk of developing cancer ORPHA:183422
    - Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic immune disease ORPHA:183770
  - Primary immunodeficiency ORPHA:101997
    - Primary immunodeficiency due to a defect in adaptive immunity ORPHA:179006
      - Syndrome with combined immunodeficiency ORPHA:331217
        
        DNA repair defect other than combined T-cell and B-cell immunodeficiencies ORPHA:169346
        
        Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Rare developmental defect with skin/mucosae involvement ORPHA:139027
    - Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Hereditary ataxia ORPHA:183518
    - Autosomal recessive cerebellar ataxia ORPHA:1172
      - Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
        
        Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic neurodegenerative disease ORPHA:183500
    - Genetic neurodegenerative disease with dementia ORPHA:276058
      - Ataxia with dementia ORPHA:98538
        
        Early-onset ataxia with dementia ORPHA:98539
        
        Autosomal recessive cerebellar ataxia ORPHA:1172
        
        Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
        
        Ataxia-telangiectasia ORPHA:100

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic dementia ORPHA:158124
    - Genetic neurodegenerative disease with dementia ORPHA:276058
      - Ataxia with dementia ORPHA:98538
        
        Early-onset ataxia with dementia ORPHA:98539
        
        Autosomal recessive cerebellar ataxia ORPHA:1172
        
        Autosomal recessive cerebellar ataxia due to a DNA repair defect ORPHA:98097
        
        Ataxia-telangiectasia ORPHA:100

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