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 ×

Mirizzi syndrome

Extrinsic biliary compression syndrome

ORPHA:521219

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

ORPHA:293208

Isolated biliary atresia

Non-syndromic biliary atresia · Isolated atresia of bile ducts

ORPHA:30391

Syndromic biliary atresia

ORPHA:498350

Thoracic outlet syndrome

TOS · Thoracic outlet compression syndrome

ORPHA:97330

Venous thoracic outlet syndrome

Effort subclavian vein thrombosis · Paget-Schrotter disease

ORPHA:357131