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.


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Rare Diseases by name

Name
15Q11Q13 MICRODUPLICATION SYNDROME
2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD
2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD
3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY; HMGCS2D
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL
3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1
3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3
3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8
3MC SYNDROME 1; 3MC1
3MC SYNDROME 2; 3MC2
3MC SYNDROME 3; 3MC3
46,XX SEX REVERSAL 1; SRXX1
46,XY SEX REVERSAL 1; SRXY1
5-OXOPROLINASE DEFICIENCY; OPLAHD
AARSKOG-SCOTT SYNDROME; AAS
ABDOMINAL OBESITY-METABOLIC SYNDROME 1; AOMS1