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 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
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk; CDG2K	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm; CDG2M	View info

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