Orphanet: Classifications

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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 chromosome 17 ORPHA:261831
        
        Partial deletion of the long arm of chromosome 17 ORPHA:262137
        
        17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- RASopathy ORPHA:536391
  - Neurofibromatosis type 1 ORPHA:636
    - 17q11 microdeletion syndrome ORPHA:97685

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
      - Neurofibromatosis type 1 ORPHA:636
        
        17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic eye disease ORPHA:101435
  - Genetic eye tumor ORPHA:183619
    - Neurofibromatosis type 1 ORPHA:636
      - 17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic tumor ORPHA:68336
  - Genetic eye tumor ORPHA:183619
    - Neurofibromatosis type 1 ORPHA:636
      - 17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic skin disease ORPHA:68346
  - Genetic pigmentation anomaly of the skin ORPHA:183463
    - Genetic hyperpigmentation of the skin ORPHA:183466
      - Neurofibromatosis type 1 ORPHA:636
        
        17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Rare genetic epilepsy ORPHA:183512
    - Neurocutaneous syndrome with epilepsy ORPHA:166466
      - Neurofibromatosis type 1 ORPHA:636
        
        17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic renal disease ORPHA:98056
  - Rare genetic cause of hypertension ORPHA:156629
    - Neurofibromatosis type 1 ORPHA:636
      - 17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Inherited cancer-predisposing syndrome ORPHA:140162
  - Neurofibromatosis type 1 ORPHA:636
    - 17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Malformation syndrome with hamartosis ORPHA:98196
    - Neurofibromatosis type 1 ORPHA:636
      - 17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic developmental defect during embryogenesis ORPHA:183530
  - Rare genetic bone development disorder ORPHA:404584
    - Primary bone dysplasia ORPHA:364526
      - Primary bone dysplasia with disorganized development of skeletal components ORPHA:93450
        
        Neurofibromatosis type 1 ORPHA:636
        
        17q11 microdeletion syndrome ORPHA:97685

Rare genetic disease ORPHA:98053
- Rare genetic bone disease ORPHA:183524
  - Primary bone dysplasia ORPHA:364526
    - Primary bone dysplasia with disorganized development of skeletal components ORPHA:93450
      - Neurofibromatosis type 1 ORPHA:636
        
        17q11 microdeletion syndrome ORPHA:97685

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