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
THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2	View info
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT; THPH3	View info
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE; THPH6	View info
THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1	View info
THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT; THPH12	View info
THROMBOPHILIA, FAMILIAL, DUE TO DECREASED RELEASE OF TISSUE PLASMINOGEN ACTIVATOR; THPH9	View info
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL; TTP	View info
THYROID CANCER, NONMEDULLARY, 1; NMTC1	View info
THYROID CANCER, NONMEDULLARY, 2; NMTC2	View info
THYROID CANCER, NONMEDULLARY, 4; NMTC4	View info
THYROID DYSHORMONOGENESIS 3; TDH3	View info
THYROID DYSHORMONOGENESIS 4; TDH4	View info
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY; PRTH	View info
THYROID HYPOPLASIA	View info
THYROTOXIC PERIODIC PARALYSIS	View info
THYROTROPIN-RELEASING HORMONE DEFICIENCY	View info
TIBIAL HEMIMELIA	View info
TIETZ ALBINISM-DEAFNESS SYNDROME; TADS	View info
TIMOTHY SYNDROME; TS	View info
TN POLYAGGLUTINATION SYNDROME; TNPS	View info

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