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
SENGERS SYNDROME	View info
SENIOR-LOKEN SYNDROME 5; SLSN5	View info
SENIOR-LOKEN SYNDROME 8; SLSN8	View info
SENIOR-LOKEN SYNDROME 9; SLSN9	View info
SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS; SANDO	View info
SEPTO-OPTIC DYSPLASIA SPECTRUM	View info
SEPTOOPTIC DYSPLASIA	View info
SESSILE SERRATED POLYPOSIS CANCER SYNDROME; SSPCS	View info
SEVERE CANAVAN DISEASE	View info
SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION	View info
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION	View info
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY	View info
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE	View info
SEVERE CONGENITAL NEMALINE MYOPATHY	View info
SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO	View info
SEVERE EARLY-ONSET OBESITY-INSULIN RESISTANCE SYNDROME DUE TO SH2B1 DEFICIENCY	View info
SEVERE HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY	View info
SÉZARY SYNDROME	View info
SHAHEEN SYNDROME; SHNS	View info
SHASHI-PENA SYNDROME; SHAPNS	View info

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