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 ×

Partial atrioventricular septal defect

PAVC · Partial atrioventricular canal defect

ORPHA:1330

Atrial septal defect-atrioventricular conduction defects syndrome

ORPHA:1479

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

Houlston-Ironton-Temple syndrome

ORPHA:1352

Atrioventricular septal defect

AVSD · Atrioventricular canal defect

ORPHA:98722

Complete atrioventricular septal defect

CAVC · Complete atrioventricular canal defect

ORPHA:1329

Complete atrioventricular septal defect with ventricular hypoplasia

CAVC with ventricular hypoplasia · Complete atrioventricular canal defect with ventricular hypoplasia

ORPHA:99067

Complete atrioventricular septal defect-tetralogy of Fallot

CAVC-tetralogy of Fallot · Complete atrioventricular canal defect-tetralogy of Fallot

ORPHA:99068

Congenital heart block

Congenital atrioventricular block

ORPHA:60041