Search for a classification

return to list of classifications

Orphanet classification of rare genetic diseases

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 posterior segment of the eye ORPHA:522570
      - Rare genetic retinal disorder ORPHA:522572
        
        Inherited retinal disorder ORPHA:71862
        
        Syndromic inherited retinal disorder ORPHA:519325
        
        Sandhoff disease ORPHA:796
        
        Sandhoff disease, adult form ORPHA:309169
        
        Sandhoff disease, infantile form ORPHA:309155
        
        Sandhoff disease, juvenile form ORPHA:309162

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Rare genetic epilepsy ORPHA:183512
    - Metabolic diseases with epilepsy ORPHA:166481
      - Lysosomal disease with epilepsy ORPHA:225681
        
        Sphingolipidosis with epilepsy ORPHA:371442
        
        Gangliosidosis ORPHA:309144
        
        GM2 gangliosidosis ORPHA:309152
        
        Sandhoff disease ORPHA:796
        
        Sandhoff disease, adult form ORPHA:309169
        
        Sandhoff disease, infantile form ORPHA:309155
        
        Sandhoff disease, juvenile form ORPHA:309162

Rare genetic disease ORPHA:98053
- Rare inborn errors of metabolism ORPHA:68367
  - Lysosomal disease ORPHA:68366
    - Sphingolipidosis ORPHA:79225
      - Gangliosidosis ORPHA:309144
        
        GM2 gangliosidosis ORPHA:309152
        
        Sandhoff disease ORPHA:796
        
        Sandhoff disease, adult form ORPHA:309169
        
        Sandhoff disease, infantile form ORPHA:309155
        
        Sandhoff disease, juvenile form ORPHA:309162

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic neurodegenerative disease ORPHA:183500
    - GM2 gangliosidosis ORPHA:309152
      - Sandhoff disease ORPHA:796
        
        Sandhoff disease, adult form ORPHA:309169
        
        Sandhoff disease, infantile form ORPHA:309155
        
        Sandhoff disease, juvenile form ORPHA:309162

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Neurometabolic disease ORPHA:68385
    - GM2 gangliosidosis ORPHA:309152
      - Sandhoff disease ORPHA:796
        
        Sandhoff disease, adult form ORPHA:309169
        
        Sandhoff disease, infantile form ORPHA:309155
        
        Sandhoff disease, juvenile form ORPHA:309162

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic peripheral neuropathy ORPHA:98497
    - Rare hereditary disease with peripheral neuropathy ORPHA:207015
      - Rare hereditary metabolic disease with peripheral neuropathy ORPHA:207018
        
        Sandhoff disease ORPHA:796
        
        Sandhoff disease, adult form ORPHA:309169
        
        Sandhoff disease, infantile form ORPHA:309155
        
        Sandhoff disease, juvenile form ORPHA:309162

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic dementia ORPHA:158124
    - Metabolic disease with dementia ORPHA:98543
      - Cerebral lipidosis with dementia ORPHA:98544
        
        Sandhoff disease ORPHA:796
        
        Sandhoff disease, adult form ORPHA:309169
        
        Sandhoff disease, infantile form ORPHA:309155
        
        Sandhoff disease, juvenile form ORPHA:309162

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.