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 ×

Univentricular heart

Double inlet atrioventricular connection

ORPHA:1464

Atrial septal defect-atrioventricular conduction defects syndrome

ORPHA:1479

Atrioventricular septal defect

AVSD · Atrioventricular canal defect

ORPHA:98722

Complete atrioventricular septal defect

CAVC · Complete atrioventricular canal defect

ORPHA:1329

Congenital heart block

Congenital atrioventricular block

ORPHA:60041

Congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great vessels · Discordant ventriculoarterial and atrioventricular connections

ORPHA:216694

Criss-cross heart

Criss-cross atrioventricular relationships · Superoinferior ventricles

ORPHA:1461