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 ×

Interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency

ORPHA:440402

Interstitial lung disease due to SP-C deficiency

Interstitial lung disease due to surfactant protein C deficiency

ORPHA:440392

Interstitial lung disease specific to infancy

ILD specific to infancy

ORPHA:264694

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

ORPHA:31150