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"

9 matching diseasesClear search ×

Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy

DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy

ORPHA:423712

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 non-committed subpulmonary ventricular septal defect

DORV with non-committed subpulmonary VSD

ORPHA:99046

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

DORV with subaortic or doubly committed VSD with pulmonary stenosis · DORV, Fallot type

ORPHA:99043

Double outlet right ventricle with subpulmonary ventricular septal defect

DORV with subpulmonary VSD · DORV-TGA

ORPHA:99045

Partial atrioventricular septal defect

PAVC · Partial atrioventricular canal defect

ORPHA:1330

Pulmonary atresia with ventricular septal defect

ORPHA:1207