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.

Rare Diseases by name

Name
14Q22Q23 MICRODELETION SYNDROME
15Q11Q13 MICRODUPLICATION SYNDROME
2-METHYLBUTYRYL-COA DEHYDROGENASE DEFICIENCY
2Q37 MICRODELETION SYNDROME
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD
3-HYDROXY-3-METHYLGLUTARYL-CoA REDUCTASE; HMGCR
3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY
3-METHYLGLUTACONIC ACIDURIA TYPE 1
3-METHYLGLUTACONIC ACIDURIA TYPE 3
3-METHYLGLUTACONIC ACIDURIA TYPE 4
3-METHYLGLUTACONIC ACIDURIA TYPE 5
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
3-METHYLGLUTACONIC ACIDURIA, TYPE IX; MGCA9
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8
3MC SYNDROME 1
3MC SYNDROME 2
3MC SYNDROME 3; 3MC3
3P- SYNDROME
46,XX GONADAL DYSGENESIS