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"

3 matching diseasesClear search ×

Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome

APV/PDA, non-Fallot type

ORPHA:99048

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

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

APV/ADA, Fallot type · Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome

ORPHA:101206