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
COMBINED IMMUNODEFICIENCY-ENTEROPATHY SPECTRUM	View info
COMBINED MALONIC AND METHYLMALONIC ACIDURIA; CMAMMA	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10; COXPD10	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12; COXPD12	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13; COXPD13	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17; COXPD17	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19; COXPD19	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1; COXPD1	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20; COXPD20	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21; COXPD21	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23; COXPD23	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24; COXPD24	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26; COXPD26	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28; COXPD28	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32; COXPD32	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33	View info

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