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
ECTOPIA LENTIS ET PUPILLAE	View info
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1	View info
ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3; EEC3	View info
EDICT SYNDROME; EDICT	View info
EHLERS-DANLOS SYNDROME DUE TO TENASCIN-X DEFICIENCY	View info
EHLERS-DANLOS SYNDROME TYPE 1	View info
EHLERS-DANLOS SYNDROME TYPE 2	View info
EHLERS-DANLOS SYNDROME TYPE 7A	View info
EHLERS-DANLOS SYNDROME TYPE 7B	View info
EHLERS-DANLOS SYNDROME WITH PERIVENTRICULAR HETEROTOPIA	View info
EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS; EDSKMH	View info
EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA	View info
EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM	View info
EHLERS-DANLOS SYNDROME, CLASSIC TYPE	View info
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE	View info
EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE	View info
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1	View info
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2; EDSMC2	View info
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1; EDSPD1	View info
EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; EDSP2	View info

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