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
FAMILIAL ADENOMATOUS POLYPOSIS 2; FAP2	View info
FAMILIAL ADENOMATOUS POLYPOSIS 3; FAP3	View info
FAMILIAL ADENOMATOUS POLYPOSIS 4; FAP4	View info
FAMILIAL ALZHEIMER-LIKE PRION DISEASE	View info
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1	View info
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2	View info
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3	View info
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4	View info
FAMILIAL COLD URTICARIA	View info
FAMILIAL EXPANSILE OSTEOLYSIS; FEO	View info
FAMILIAL ISOLATED HYPERPARATHYROIDISM	View info
FAMILIAL LAMBDOID SYNOSTOSIS	View info
FAMILIAL MEDITERRANEAN FEVER; FMF	View info
FAMILIAL MELANOMA	View info
FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE	View info
FAMILIAL PANCREATIC CARCINOMA	View info
FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA	View info
FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA	View info
FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION	View info
FAMILIAL THROMBOCYTOSIS	View info

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