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
CARDIOMYOPATHY, DILATED, 1P; CMD1P	View info
CARDIOMYOPATHY, DILATED, 1S; CMD1S	View info
CARDIOMYOPATHY, DILATED, 1V; CMD1V	View info
CARDIOMYOPATHY, DILATED, 1X; CMD1X	View info
CARDIOMYOPATHY, DILATED, 1Y; CMD1Y	View info
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17; CMH17	View info
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1; CMH1	View info
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2	View info
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3; CMH3	View info
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9	View info
CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF	View info
CARNEY COMPLEX VARIANT	View info
CARNEY COMPLEX, TYPE 1; CNC1	View info
CARNEY TRIAD	View info
CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP	View info
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE	View info
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED	View info
CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY; CACTD	View info
CARPAL TUNNEL SYNDROME; CTS1	View info
CARPENTER SYNDROME 1; CRPT1	View info

25 of 172