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
BLOOD GROUP--KIDD SYSTEM; JK	View info
BLOOD GROUP--LUTHERAN INHIBITOR; INLU	View info
BOHRING-OPITZ SYNDROME; BOPS	View info
BOMBAY PHENOTYPE	View info
BONE MARROW FAILURE SYNDROME 1; BMFS1	View info
BONE MARROW FAILURE SYNDROME 3; BMFS3	View info
BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16; BMND16	View info
BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS	View info
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS	View info
BOSMA ARHINIA MICROPHTHALMIA SYNDROME; BAMS	View info
BOUCHER-NEUHAUSER SYNDROME; BNHS	View info
BOWEN-CONRADI SYNDROME; BWCNS	View info
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD	View info
BRACHYDACTYLY, TYPE A1, D; BDA1D	View info
BRACHYDACTYLY, TYPE A1; BDA1	View info
BRACHYDACTYLY, TYPE D; BDD	View info
BRACHYDACTYLY, TYPE E1; BDE1	View info
BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4	View info
BRAIN MALFORMATIONS WITH OR WITHOUT URINARY TRACT DEFECTS; BRMUTD	View info
BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES; BSVD	View info

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