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
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA; HH5	View info
HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7	View info
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA; HH9	View info
HYPOKALEMIC PERIODIC PARALYSIS	View info
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1; HOKPP1	View info
HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2; HOKPP2	View info
HYPOMAGNESEMIA 2, RENAL; HOMG2	View info
HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5	View info
HYPOMAGNESEMIA 6, RENAL; HOMG6	View info
HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION; HOMGSMR	View info
HYPOMYELINATION NEUROPATHY-ARTHROGRYPOSIS SYNDROME	View info
HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL	View info
HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME	View info
HYPOPARATHYROIDISM, FAMILIAL ISOLATED; FIH	View info
HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME; HRDS	View info
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY; HHRH	View info
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR	View info
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT; XLHR	View info
HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1	View info
HYPOPLASTIC LEFT HEART SYNDROME 2; HLHS2	View info

78 of 172