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
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD	View info
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES; BSVD	View info
BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY; BCKDKD	View info
BRANCHIOOCULOFACIAL SYNDROME; BOFS	View info
BRANCHIOOTIC SYNDROME 3; BOS3	View info
BRANCHIOOTORENAL SYNDROME 1; BOR1	View info
BRANCHIOOTORENAL SYNDROME 2; BOR2	View info
BREAST CANCER	View info
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BROVCA2	View info
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 1; BNAH1	View info
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2; BNAH2	View info
BRESEK SYNDROME	View info
BRITTLE CORNEA SYNDROME 1; BCS1	View info
BRODY MYOPATHY	View info
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1; BESC1	View info
BRONCHOPULMONARY DYSPLASIA	View info
BROOKE-SPIEGLER SYNDROME; BRSS	View info
BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2	View info
BRUCK SYNDROME 2; BRKS2	View info
BRUGADA SYNDROME 1; BRGDA1	View info

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