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
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO; CAKUT1 View info
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2; CAKUT2 View info
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED View info
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY; CCFDN View info
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION; CCHLND View info
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD View info
CONGENITAL DISORDER OF DEGLYCOSYLATION; CDDG View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib; CDG1B View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id; CDG1D View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie; CDG1E View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig; CDG1G View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih; CDG1H View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii; CDG1I View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa; CDG2A View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId; CDG2D View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe; CDG2E View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj; CDG2J View info

38 of 172