Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10 matching diseasesClear search ×

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

ORPHA:1183

Acropectorovertebral dysplasia

F syndrome

ORPHA:957

Cat-eye syndrome

CES

ORPHA:195

Deficiency in anterior pituitary function-variable immunodeficiency syndrome

DAVID syndrome

ORPHA:293978

Dravet syndrome

SMEI · Severe myoclonic epilepsy of infancy

ORPHA:33069

Ehlers-Danlos syndrome

EDS

ORPHA:98249

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

ORPHA:1305

Felty syndrome

Splenomegaly-neutropenia-rheumatoid arthritis syndrome

ORPHA:47612

Reye syndrome

ORPHA:3096

Sweet syndrome

Acute febrile neutrophilic dermatosis

ORPHA:3243