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"

18 matching diseasesClear search ×

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

ORPHA:645749

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital aortic valve stenosis

ORPHA:3093

Congenital cervical spinal stenosis

Congenital narrowing of cervical spinal canal · Congenital stenosis of the cervical spine

ORPHA:831

Congenital esophageal diverticulum

Congenital esophageal pouch

ORPHA:91358

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital mitral stenosis

ORPHA:99057

Congenital ptosis

ORPHA:91411

Congenital pulmonary valvar stenosis

Congenital stenosis of pulmonary valve

ORPHA:3189

Congenital pulmonary veins atresia or stenosis

ORPHA:3188

Congenital renal artery stenosis

Congenital renovascular hypoplasia

ORPHA:97598

Congenital stenosis of the inferior vena cava

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

ORPHA:99122

Congenital subglottic stenosis

ORPHA:141121

Congenital tracheal stenosis

ORPHA:141127

Congenital tricuspid stenosis

ORPHA:95459

Coronary ostial stenosis or atresia

COSA · Congenital stenosis or atresia of a coronary ostium

ORPHA:99087

Esophageal atresia

CEA · Congenital esophageal atresia

ORPHA:1199

Primary pulmonary vein stenosis

PPVS · Congenital pulmonary vein stenosis

ORPHA:642071