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"

2 matching diseasesClear search ×

Congenital tracheomalacia

Congenital major airway collapse

ORPHA:95430

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444