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 ×

Tracheal agenesis

Tracheal atresia

ORPHA:3346

Atresia of urethra

Urethral atresia

ORPHA:105

Choanal atresia

ORPHA:137914

Duodenal atresia

ORPHA:1203

Esophageal atresia

CEA · Congenital esophageal atresia

ORPHA:1199

Mitral atresia

ORPHA:1205

Small bowel atresia

Atresia of small bowel · SBA

ORPHA:1201

Tracheal anomaly

ORPHA:156252

Tricuspid atresia

ORPHA:1209

Vaginal atresia

ORPHA:65681