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
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
SHORT QT SYNDROME 3; SQT3 View info
SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE View info
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS; SSOAOD View info
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES View info
SHORT STATURE, IDIOPATHIC, X-LINKED; ISS View info
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED View info
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS; SOFT View info

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