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
AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1	View info
AURICULOCONDYLAR SYNDROME 2; ARCND2	View info
AUTISM, SUSCEPTIBILITY TO, 16; AUTS16	View info
AUTISM, SUSCEPTIBILITY TO, 17; AUTS17	View info
AUTISM, SUSCEPTIBILITY TO, 18; AUTS18	View info
AUTISM, SUSCEPTIBILITY TO, 3; AUTS3	View info
AUTISM, SUSCEPTIBILITY TO, X-LINKED 1; AUTSX1	View info
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2	View info
AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3	View info
AUTISM, SUSCEPTIBILITY TO, X-LINKED 4; AUTSX4	View info
AUTISM, SUSCEPTIBILITY TO, X-LINKED 5; AUTSX5	View info
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6; AUTSX6	View info
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1	View info
AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD	View info
AUTOIMMUNE HEMOLYTIC ANEMIA-AUTOIMMUNE THROMBOCYTOPENIA-PRIMARY IMMUNODEFICIENCY SYNDROME	View info
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE; AILJK	View info
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5	View info
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; ALPS	View info
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1	View info
AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK	View info

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