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
HYPERBILIVERDINEMIA; HBLVD	View info
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3	View info
HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B	View info
HYPERCHOLESTEROLEMIA, FAMILIAL	View info
HYPEREKPLEXIA 2; HKPX2	View info
HYPEREKPLEXIA 3; HKPX3	View info
HYPEREKPLEXIA, HEREDITARY 1; HKPX1	View info
HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES; HGCLAS	View info
HYPERGLYCINURIA	View info
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1	View info
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2; HHF2	View info
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4; HHF4	View info
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5; HHF5	View info
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6; HHF6	View info
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7	View info
HYPERINSULINISM DUE TO HNF1A DEFICIENCY	View info
HYPERINSULINISM DUE TO HNF4A DEFICIENCY	View info
HYPERINSULINISM DUE TO SHORT CHAIN 3-HYDROXYLACYL-COA DEHYDROGENASE DEFICIENCY	View info
HYPERINSULINISM DUE TO UCP2 DEFICIENCY	View info
HYPERKALEMIC PERIODIC PARALYSIS	View info

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