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"

3 matching diseasesClear search ×

Mounier-Kühn syndrome

Congenital tracheobronchomegaly · Idiopathic tracheobronchomegaly

ORPHA:3347

Congenital tracheal stenosis

ORPHA:141127

Congenital tracheomalacia

Congenital major airway collapse

ORPHA:95430