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
STIFF SKIN SYNDROME; SSKS	View info
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI	View info
STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME; SDSX	View info
STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS; SDCHCN	View info
STORMORKEN SYNDROME; STRMK	View info
STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2; ADSD2	View info
STRIATONIGRAL DEGENERATION, INFANTILE; SNDI	View info
STROKE, ISCHEMIC	View info
STROMME SYNDROME; STROMS	View info
STURGE-WEBER SYNDROME	View info
STURGE-WEBER SYNDROME; SWS	View info
STUVE-WIEDEMANN SYNDROME	View info
SUCCINYL-CoA:3-OXOACID-CoA TRANSFERASE DEFICIENCY; SCOTD	View info
SUDDEN INFANT DEATH SYNDROME	View info
SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME; SIDDT	View info
SULFOCYSTEINURIA	View info
SUPERFICIAL EPIDERMOLYTIC ICHTHYOSIS	View info
SUPRAVALVULAR AORTIC STENOSIS; SVAS	View info
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4	View info
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5; SMDP5	View info

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