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"

9 matching diseasesClear search ×

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

ORPHA:99087

Congenital coronary artery aneurysm

Congenital coronary aneurysm

ORPHA:95491

Congenital mitral stenosis

ORPHA:99057

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

ORPHA:3189

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Congenital pulmonary veins atresia or stenosis

ORPHA:3188

Congenital renal artery stenosis

Congenital renovascular hypoplasia

ORPHA:97598

Coronary artery congenital malformation

ORPHA:1081

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

ORPHA:642071