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
GLOMUVENOUS MALFORMATIONS; GVM	View info
GLUCOCORTICOID DEFICIENCY 2; GCCD2	View info
GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4	View info
GLUCOCORTICOID RESISTANCE, GENERALIZED; GCCR	View info
GLUCOSE/GALACTOSE MALABSORPTION; GGM	View info
GLUT1 DEFICIENCY SYNDROME 1; GLUT1DS1	View info
GLUT1 DEFICIENCY SYNDROME 2; GLUT1DS2	View info
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY	View info
GLUTARIC ACIDEMIA I; GA1	View info
GLUTATHIONE PEROXIDASE DEFICIENCY; GPXD	View info
GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD	View info
GLUTATHIONURIA	View info
GLYCEROL KINASE DEFICIENCY; GKD	View info
GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE	View info
GLYCOGEN STORAGE DISEASE 0, LIVER; GSD0A	View info
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY	View info
GLYCOGEN STORAGE DISEASE DUE TO LIVER GLYCOGEN PHOSPHORYLASE DEFICIENCY	View info
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY	View info
GLYCOGEN STORAGE DISEASE Ia; GSD1A	View info
GLYCOGEN STORAGE DISEASE Ib; GSD1B	View info

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