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 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
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1	View info
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2; SEMDJL2	View info
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE; SEMDFA	View info
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; SEMDG	View info
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE	View info
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK	View info
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX	View info
SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA	View info

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