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"

4 matching diseasesClear search ×

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Hereditary pulmonary alveolar proteinosis with hepatic involvement · Interstitial lung and liver disease

ORPHA:440427

Autoimmune pulmonary alveolar proteinosis

Autoimmune PAP · aPAP

ORPHA:747

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

ORPHA:264675

Secondary pulmonary alveolar proteinosis

Secondary PAP

ORPHA:420259