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"

10 matching diseasesClear search ×

Esophageal atresia

CEA · Congenital esophageal atresia

ORPHA:1199

Anophthalmia/microphthalmia-esophageal atresia syndrome

MCOPS3 · Syndromic microphthalmia type 3

ORPHA:77298

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

ORPHA:495879

Congenital amyoplasia

Amyoplasia congenita

ORPHA:488586

Congenital aortic valve atresia

ORPHA:95448

Congenital atransferrinemia

Congenital hypotransferrinemia

ORPHA:1195

Congenital esophageal diverticulum

Congenital esophageal pouch

ORPHA:91358

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

ORPHA:645749

Congenital pulmonary vein atresia

Congenital PVA · CPVA

ORPHA:99126

Non-syndromic congenital bronchial atresia

Non-syndromic CBA

ORPHA:649010