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
SUPRAVALVULAR AORTIC STENOSIS; SVAS	View info
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4	View info
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5	View info
SWEENEY-COX SYNDROME; SWCOS	View info
SYMPHALANGISM, PROXIMAL, 1A; SYM1A	View info
SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS	View info
SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1	View info
SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	View info
SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION; MSSD	View info
SYNDACTYLY, TYPE IV; SDTY4	View info
SYNDROMIC RECESSIVE X-LINKED ICHTHYOSIS	View info
SYNPOLYDACTYLY 1; SPD1	View info
SYNPOLYDACTYLY 2; SPD2	View info
SYSTEMIC LUPUS ERYTHEMATOSUS; SLE	View info
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

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