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"

6 matching diseasesClear search ×

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

ORPHA:617408

Congenital factor V deficiency

Owren disease · Parahemophilia

ORPHA:326

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

ORPHA:40923

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

ORPHA:49041

Tropical endomyocardial fibrosis

Davies disease · TEMF

ORPHA:75565

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

ORPHA:2442