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"

13 matching diseasesClear search ×

Congenital aortopulmonary window

Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect

ORPHA:2037

Atrial septal defect, coronary sinus type

ASD, coronary sinus type · Unroofed coronary sinus

ORPHA:99104

Congenital bile acid synthesis defect

BASD

ORPHA:485631

Congenital Gerbode defect

Left ventricular-to-right atrial communication

ORPHA:99095

Congenital pulmonary lymphangiectasia

Pulmonary lymphangiomatosis

ORPHA:2414

Congenital pulmonary sequestration

Congenital bronchopulmonary sequestration

ORPHA:3161

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

ORPHA:3189

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital pulmonary veins anomaly

ORPHA:98729

Extralobar congenital pulmonary sequestration

Congenital extrapulmonary sequestration · Extralobar congenital bronchopulmonary sequestration

ORPHA:280811

Intralobar congenital pulmonary sequestration

Congenital intrapulmonary sequestration · Intralobar congenital bronchopulmonary sequestration

ORPHA:280802

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

ORPHA:642071

Pulmonary atresia with ventricular septal defect

ORPHA:1207