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
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
HYPERLIPIDEMIA, FAMILIAL COMBINED; FCHL	View info
HYPERLIPOPROTEINEMIA, TYPE ID	View info
HYPERLIPOPROTEINEMIA, TYPE III	View info
HYPERLIPOPROTEINEMIA, TYPE V	View info
HYPERLYSINEMIA, TYPE I	View info
HYPERMANGANESEMIA WITH DYSTONIA 1; HMNDYT1	View info
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY	View info
HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	View info
HYPEROSTOSIS CORTICALIS GENERALISATA	View info
HYPEROSTOSIS CRANIALIS INTERNA	View info
HYPEROXALURIA, PRIMARY, TYPE I; HP1	View info
HYPEROXALURIA, PRIMARY, TYPE III; HP3	View info
HYPERPARATHYROIDISM 1; HRPT1	View info
HYPERPARATHYROIDISM 2 WITH JAW TUMORS; HRPT2	View info
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A	View info
HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C	View info

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