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
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2	View info
DYSTONIA 23; DYT23	View info
DYSTONIA 25; DYT25	View info
DYSTONIA 27; DYT27	View info
DYSTONIA 28, CHILDHOOD-ONSET; DYT28	View info
DYSTONIA 3, TORSION, X-LINKED; DYT3	View info
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT; DYT4	View info
DYSTONIA 6, TORSION; DYT6	View info
DYSTONIA 9; DYT9	View info
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES; DYTOABG	View info
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY	View info
EARLY-ONSET AUTOSOMAL DOMINANT ALZHEIMER DISEASE	View info
EBSTEIN ANOMALY	View info
ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED; XHED	View info
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B	View info
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD11B	View info
ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE; ECTD13	View info
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT	View info
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME; ECTDS	View info
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE; ECTOL2	View info

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