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
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4; HPMRS4	View info
HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6	View info
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE; FPHH	View info
HYPERPROINSULINEMIA	View info
HYPERPROLINEMIA, TYPE I; HYRPRO1	View info
HYPERREFLEXIA; HRX	View info
HYPERTELORISM, TEEBI TYPE	View info
HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY	View info
HYPERTENSION, ESSENTIAL	View info
HYPERTHYROIDISM, FAMILIAL GESTATIONAL	View info
HYPERTHYROIDISM, NONAUTOIMMUNE	View info
HYPERTHYROXINEMIA, DYSTRANSTHYRETINEMIC; DTTRH	View info
HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC; FDAH	View info
HYPERTRICHOSIS-ACROMEGALOID FACIAL APPEARANCE SYNDROME	View info
HYPERTRIGLYCERIDEMIA, FAMILIAL	View info
HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE; HTGTI	View info
HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS	View info
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1	View info
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2; PHOAR2	View info
HYPERTRYPTOPHANEMIA; HYPTRP	View info

76 of 172