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
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT	View info
EHLERS-DANLOS SYNDROME, TYPE VI; EDS6	View info
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT	View info
EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE	View info
EIKEN SYNDROME	View info
ELLIPTOCYTOSIS 1; EL1	View info
EMANUEL SYNDROME	View info
EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1	View info
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2	View info
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT; EDMD5	View info
ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; ECCL	View info
ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2; EMPF2	View info
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3	View info
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4	View info
ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES; FENIB	View info
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS	View info
ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL	View info
ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO	View info
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY; PELD	View info
ENCHONDROMATOSIS	View info

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