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"

7 matching diseasesClear search ×

Pulmonary valve agenesis

Congenital absence of the pulmonary valve · PVA

ORPHA:982

Aniridia-absent patella syndrome

ORPHA:1069

Hantavirus pulmonary syndrome

ORPHA:319247

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

ORPHA:2470

Pulmonary atresia-intact ventricular septum syndrome

ORPHA:1208

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

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

ORPHA:185