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"

14 matching diseasesClear search ×

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

ORPHA:2037

Abnormal origin of right or left pulmonary artery from the aorta

Pulmonary artery coming from the aorta · Hemitruncus arteriosus

ORPHA:99050

Congenital anomaly of the great arteries

Congenital aorta, aortic arch or pulmonary arteries anomaly

ORPHA:98724

Congenital coronary artery aneurysm

Congenital coronary aneurysm

ORPHA:95491

Congenital portosystemic shunt

Congenital portosystemic venous fistula

ORPHA:480531

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital pulmonary veins anomaly

ORPHA:98729

Congenital respiratory-biliary fistula

ORPHA:2040

Coronary arterial fistula

ORPHA:2041

Coronary artery congenital malformation

ORPHA:1081

OBSOLETE: Aortopulmonary coronary arterial course

ORPHA:99086

OBSOLETE: Congenital arteriovenous fistula

ORPHA:98731

OBSOLETE: Congenital systemic arteriovenous fistula

ORPHA:2039

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

ORPHA:708051