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 ×

Agenesis of the superior vena cava

Absence of the superior caval vein · Absence of the superior vena cava

ORPHA:99114

Absence of the pulmonary artery

Unilateral Pulmonary Artery Absence · Aplasia of pulmonary artery

ORPHA:980

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879