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"

11 matching diseasesClear search ×

Laubry-Pezzi syndrome

VSD with aortic insufficiency · Ventricular septal defect with aortic insufficiency

ORPHA:99094

Atrioventricular septal defect

AVSD · Atrioventricular canal defect

ORPHA:98722

Complete atrioventricular septal defect

CAVC · Complete atrioventricular canal defect

ORPHA:1329

Complete atrioventricular septal defect with ventricular hypoplasia

CAVC with ventricular hypoplasia · Complete atrioventricular canal defect with ventricular hypoplasia

ORPHA:99067

Double outlet right ventricle with doubly committed ventricular septal defect

ORPHA:99047

Double outlet right ventricle with subaortic or doubly committed ventricular septal defect

DORV with subaortic or doubly committed VSD

ORPHA:423693

Double outlet right ventricle with subaortic ventricular septal defect

ORPHA:99044

Double outlet right ventricle with subpulmonary ventricular septal defect

DORV with subpulmonary VSD · DORV-TGA

ORPHA:99045

OBSOLETE: Single ventricular septal defect

ORPHA:99097

Partial atrioventricular septal defect

PAVC · Partial atrioventricular canal defect

ORPHA:1330

Pulmonary atresia with ventricular septal defect

ORPHA:1207