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
COFFIN-SIRIS SYNDROME 6; CSS6	View info
COFS SYNDROME	View info
COHEN SYNDROME	View info
COHEN SYNDROME; COH1	View info
COHEN-GIBSON SYNDROME; COGIS	View info
COLD-INDUCED SWEATING SYNDROME 1; CISS1	View info
COLD-INDUCED SWEATING SYNDROME 2; CISS2	View info
COLE-CARPENTER SYNDROME 1; CLCRP1	View info
COLE-CARPENTER SYNDROME 2; CLCRP2	View info
COLOBOMA OF MACULA	View info
COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME; CHIME	View info
COLOBOMA, OCULAR, AUTOSOMAL DOMINANT	View info
COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE	View info
COLORBLINDNESS, PARTIAL, PROTAN SERIES; CBP	View info
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2; HNPCC2	View info
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5; HNPCC5	View info
COLORECTAL CANCER; CRC	View info
COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS; CCHIDG	View info
COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD	View info
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH	View info

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