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 ×

Renal or urinary tract malformation

CAKUT · Congenital anomalies of kidney and urinary tract

ORPHA:93545

Congenital anomaly of superior vena cava

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

ORPHA:95498

Congenital anomaly of the coronary sinus

ORPHA:95500

Congenital anomaly of the great arteries

Congenital aorta, aortic arch or pulmonary arteries anomaly

ORPHA:98724

Congenital anomaly of the inferior vena cava

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

ORPHA:95499

Congenital urachal anomaly

ORPHA:435743

PBX1-related congenital anomalies of kidney-urinary tract syndrome

PBX1-related syndromic CAKUT

ORPHA:656130