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
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
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA	View info
SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD	View info
SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE; SEDK	View info
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE	View info
SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD	View info
SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE	View info
SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE	View info
SPONDYLOPERIPHERAL DYSPLASIA	View info
SQUAMOUS CELL CARCINOMA OF THE ESOPHAGUS	View info
SQUAMOUS CELL CARCINOMA, HEAD AND NECK; HNSCC	View info
STANKIEWICZ-ISIDOR SYNDROME; STISS	View info
STARGARDT DISEASE	View info

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