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
THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE); THMD4	View info
THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE); THMD5	View info
THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA	View info
THIOPURINES, POOR METABOLISM OF, 2; THPM2	View info
THOMSEN AND BECKER DISEASE	View info
THREE M SYNDROME 2; 3M2	View info
THREE M SYNDROME 3; 3M3	View info
THROMBOCYTHEMIA 1; THCYT1	View info
THROMBOCYTHEMIA 3; THCYT3	View info
THROMBOCYTOPENIA 1; THC1	View info
THROMBOCYTOPENIA 2; THC2	View info
THROMBOCYTOPENIA 3; THC3	View info
THROMBOCYTOPENIA 6; THC6	View info
THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT	View info
THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA	View info
THROMBOCYTOPENIA, CYCLIC	View info
THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT	View info
THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA	View info
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME	View info
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR	View info

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