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
AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC	View info
AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED; APLAID	View info
AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME; ALDD	View info
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE; AISBL	View info
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K	View info
AUTOSOMAL DOMINANT CUTIS LAXA	View info
AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA	View info
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY	View info
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO SUR1 DEFICIENCY	View info
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA	View info
AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS	View info
AUTOSOMAL DOMINANT MYOPIA-MIDFACIAL RETRUSION-SENSORINEURAL HEARING LOSS-RHIZOMELIC DYSPLASIA SYNDROME	View info
AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME	View info
AUTOSOMAL DOMINANT ROBINOW SYNDROME	View info
AUTOSOMAL DOMINANT SPONDYLOCOSTAL DYSOSTOSIS	View info
AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2, CLASSIC TYPE	View info
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS	View info
AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS	View info
AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME	View info
AUTOSOMAL RECESSIVE STICKLER SYNDROME	View info

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