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
16Q24.3 MICRODELETION SYNDROME	View info
17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY	View info
1P21.3 MICRODELETION SYNDROME	View info
1Q44 MICRODELETION SYNDROME	View info
2,4-DIENOYL-CoA REDUCTASE DEFICIENCY; DECRD	View info
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD	View info
2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	View info
20P12.3 MICRODELETION SYNDROME	View info
22Q11.2 DELETION SYNDROME	View info
2P21 MICRODELETION SYNDROME	View info
2Q23.1 MICRODELETION SYNDROME	View info
2Q24 MICRODELETION SYNDROME	View info
3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD	View info
3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY; HMGCS2D	View info
3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	View info
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY; HIBCHD	View info
3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D	View info
3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D	View info
3-METHYLGLUTACONIC ACIDURIA WITH CATARACTS, NEUROLOGIC INVOLVEMENT, AND NEUTROPENIA; MEGCANN	View info
3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL	View info

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