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
CHIARI MALFORMATION TYPE II	View info
CHILBLAIN LUPUS 2; CHBL2	View info
CHITAYAT SYNDROME; CHYTS	View info
CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1; BRIC1	View info
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3; ICP3	View info
CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1; ICP1	View info
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1	View info
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5	View info
CHONDROCALCINOSIS 2; CCAL2	View info
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1	View info
CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE	View info
CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD	View info
CHOPS SYNDROME; CHOPS	View info
CHOREA, BENIGN FAMILIAL	View info
CHOREA, BENIGN HEREDITARY; BHC	View info
CHOREOACANTHOCYTOSIS; CHAC	View info
CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP	View info
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2; CACD2	View info
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1; CACD1	View info
CHOROIDEREMIA; CHM	View info

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