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"

8 matching diseasesClear search ×

Congenital heart block

Congenital atrioventricular block

ORPHA:60041

Atrioventricular septal defect

AVSD · Atrioventricular canal defect

ORPHA:98722

Complete atrioventricular septal defect

CAVC · Complete atrioventricular canal defect

ORPHA:1329

Congenital left ventricular aneurysm

ORPHA:1055

Criss-cross heart

Criss-cross atrioventricular relationships · Superoinferior ventricles

ORPHA:1461

Partial atrioventricular septal defect

PAVC · Partial atrioventricular canal defect

ORPHA:1330

Rare congenital anomaly of ventricular septum

Congenital ventricular septal anomaly · Congenital anomaly of interventricular communication

ORPHA:474347

Univentricular heart

Double inlet atrioventricular connection

ORPHA:1464