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"

3 matching diseasesClear search ×

Chronic enteropathy associated with SLCO2A1 gene

CEAS

ORPHA:468641

Esophageal atresia

CEA · Congenital esophageal atresia

ORPHA:1199

Isolated spontaneous cervical artery dissection

CeAD

ORPHA:689001