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
HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME; HUPRAS	View info
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2; HNFJ2	View info
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1	View info
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2; FHBL2	View info
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS	View info
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II; HHC2	View info
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III; HHC3	View info
HYPOCHONDROPLASIA	View info
HYPOCHONDROPLASIA; HCH	View info
HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS	View info
HYPOGLYCEMIA, LEUCINE-INDUCED; LIH	View info
HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA; HH1	View info
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA; HH11	View info
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA; HH13	View info
HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17	View info
HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA; HH19	View info
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2	View info
HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA; HH20	View info
HYPOGONADOTROPIC HYPOGONADISM 23 WITHOUT ANOSMIA; HH23	View info
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA; HH4	View info

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