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"

6 matching diseasesClear search ×

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

ORPHA:1250

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

ORPHA:1305

Isolated tracheoesophageal fistula

H-type tracheoesophageal fistula

ORPHA:454750

OBSOLETE: Anophthalmia-esophageal-genital syndrome syndrome

ORPHA:99987

OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome

OBSOLETE: Novak syndrome

ORPHA:2005

OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome

ORPHA:2042