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
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5	View info
TEMPLE-BARAITSER SYNDROME; TMBTS	View info
TEMTAMY SYNDROME; TEMTYS	View info
TENORIO SYNDROME; TNORS	View info
TESTICULAR MICROLITHIASIS	View info
TETRALOGY OF FALLOT; TOF	View info
TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES	View info
THANATOPHORIC DYSPLASIA, TYPE I; TD1	View info
THANATOPHORIC DYSPLASIA, TYPE II; TD2	View info
THAUVIN-ROBINET-FAIVRE SYNDROME; TROFAS	View info
THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2	View info
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

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