Rare diseases 

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.


Name
14Q22Q23 MICRODELETION SYNDROME View Complete info
15Q11Q13 MICRODUPLICATION SYNDROME View Complete info
2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY View Complete info
2Q37 MICRODELETION SYNDROME View Complete info
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD View Complete info
3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY View Complete info
3-METHYLGLUTACONIC ACIDURIA TYPE 1 View Complete info
3-METHYLGLUTACONIC ACIDURIA TYPE 3 View Complete info
3-METHYLGLUTACONIC ACIDURIA TYPE 4 View Complete info
3-METHYLGLUTACONIC ACIDURIA TYPE 5 View Complete info
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA View Complete info
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME View Complete info
3MC SYNDROME 1 View Complete info
3MC SYNDROME 2 View Complete info
3MC SYNDROME 3; 3MC3 View Complete info
3P- SYNDROME View Complete info
46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT View Complete info
46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY View Complete info
46,XY SEX REVERSAL 10; SRXY10 View Complete info
46,XY SEX REVERSAL 1; SRXY1 View Complete info