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 DISORDER OF GLYCOSYLATION, TYPE IIn; CDG2N	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo; CDG2O	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij; CDG1J	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im; CDG1M	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In; CDG1N	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip; CDG1P	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It; CDG1T	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu; CDG1U	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix; CDG1X	View info
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y	View info
CONGENITAL ERYTHROPOIETIC PORPHYRIA	View info
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY	View info
CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED	View info
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME; CHDSKM	View info
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER; CHDFIDD	View info
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2	View info
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI	View info
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY	View info
CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT	View info

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