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
SYSTEMIC MASTOCYTOSIS WITH AN ASSOCIATED CLONAL HEMATOLOGIC NON-MAST CELL LINEAGE DISEASE	View info
T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS; TIIAC	View info
TAKAYASU ARTERITIS	View info
TAKENOUCHI-KOSAKI SYNDROME; TKS	View info
TANGIER DISEASE	View info
TARP SYNDROME; TARPS	View info
TATTON-BROWN-RAHMAN SYNDROME; TBRS	View info
TAY-SACHS DISEASE; TSD	View info
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1	View info
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

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