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
ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE	View info
ENDOMETRIAL CANCER	View info
ENHANCED S-CONE SYNDROME; ESCS	View info
ENTEROKINASE DEFICIENCY	View info
EOSINOPHIL PEROXIDASE DEFICIENCY; EPXD	View info
EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT; DDEB	View info
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA	View info
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION; EBSMP	View info
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; EBSMD	View info
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY; EBSND	View info
EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA; EBSPA	View info
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1	View info
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2; EBSB2	View info
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM	View info
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED	View info
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED	View info
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE	View info
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC; EBLA	View info
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE; EBNS	View info
EPILEPSY, EARLY-ONSET, VITAMIN B6-DEPENDENT; EPVB6D	View info

53 of 172