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 ×

Congenital portosystemic shunt

Congenital portosystemic venous fistula

ORPHA:480531

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

ORPHA:2037

Congenital systemic veins anomaly

ORPHA:3091

OBSOLETE: Congenital arteriovenous fistula

ORPHA:98731

OBSOLETE: Congenital systemic arteriovenous fistula

ORPHA:2039

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

ORPHA:708051