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"

6 matching diseasesClear search ×

Agenesis of the superior vena cava

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

ORPHA:99114

Azygos continuation of the inferior vena cava

Azygos continuation of the IVC · Azygos continuation of the inferior caval vein

ORPHA:99121

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital anomaly of superior vena cava

Congenital anomaly of superior caval vein · Congenital anomaly of the SVC

ORPHA:95498

Congenital anomaly of the inferior vena cava

Congenital anomaly of the IVC · Congenital anomaly of the inferior caval vein

ORPHA:95499

Congenital stenosis of the inferior vena cava

Congenital stenosis of the IVC · Congenital stenosis of the inferior caval vein

ORPHA:99122