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 OXIDATIVE PHOSPHORYLATION DEFICIENCY 3; COXPD3	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4; COXPD4	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5; COXPD5	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8	View info
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9	View info
COMBINED SAPOSIN DEFICIENCY	View info
COMPLEMENT COMPONENT 2 DEFICIENCY; C2D	View info
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I; C8D1	View info
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II; C8D2	View info
COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY; CHAPLE	View info
COMPLETE ANDROGEN INSENSITIVITY SYNDROME	View info
CONE-ROD DYSTROPHY 15; CORD15	View info
CONE-ROD DYSTROPHY 19; CORD19	View info
CONE-ROD DYSTROPHY 3; CORD3	View info
CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3	View info
CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE; CRSD	View info
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO; CAKUT1	View info
CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2; CAKUT2	View info

37 of 172