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"

5 matching diseasesClear search ×

Congenital retinal arteriovenous communication

Congenital arteriovenous anastomoses of the retina · Congenital arteriovenous communication of the retina

ORPHA:353334

Congenital anomaly of the great arteries

Congenital aorta, aortic arch or pulmonary arteries anomaly

ORPHA:98724

Hepatic arteriovenous malformation

Congenital hepatic arteriovenous malformation · HAVM

ORPHA:693846

OBSOLETE: Congenital arteriovenous fistula

ORPHA:98731

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

ORPHA:708051