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 ×

Isolated proximal femoral focal deficiency

PFFD · CPFD

ORPHA:633228

Combined pulmonary fibrosis-emphysema syndrome

CPFE

ORPHA:300564