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
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2	View info
CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI	View info
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY	View info
CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT	View info
CONGENITAL MYOPATHY WITH MYASTHENIC-LIKE ONSET	View info
CONGENITAL NON-BULLOUS ICHTHYOSIFORM ERYTHRODERMA	View info
CONGENITAL SHORT BOWEL SYNDROME; CSBS	View info
CONGENITAL STATIONARY NIGHT BLINDNESS	View info
CONOTRUNCAL HEART MALFORMATIONS; CTHM	View info
CORNEA PLANA 2, AUTOSOMAL RECESSIVE; CNA2	View info
CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS; CDPD	View info
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3; FECD3	View info
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6; FECD6	View info
CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE; GDLD	View info
CORNEAL DYSTROPHY, LATTICE TYPE IIIA; CDL3A	View info
CORNEAL DYSTROPHY, MEESMANN; MECD	View info
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE; CDRB	View info
CORNEAL ENDOTHELIAL DYSTROPHY; CHED	View info
CORNELIA DE LANGE SYNDROME 1; CDLS1	View info
CORNELIA DE LANGE SYNDROME 5; CDLS5	View info

40 of 172