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
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21; SCAR21	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23; SCAR23	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3; SCAR3	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7; SCAR7	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; SCAR8	View info
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY; SCAN1	View info
SPINOCEREBELLAR ATAXIA, X-LINKED 5; SCAX5	View info
SPLIT-HAND/FOOT MALFORMATION 4; SHFM4	View info
SPLIT-HAND/FOOT MALFORMATION 6; SHFM6	View info
SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1	View info
SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2	View info
SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE; SCDO4	View info
SPONDYLOCOSTAL DYSOSTOSIS 5; SCDO5	View info
SPONDYLOENCHONDRODYSPLASIA	View info
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI	View info

157 of 172