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 ×

Neonatal acute respiratory distress syndrome

Neonatal RDS · Hyaline membrane disease

ORPHA:217563

Chronic respiratory distress with surfactant metabolism deficiency

ORPHA:217566

Infant acute respiratory distress syndrome

Hyaline membrane disease · Infant ARDS

ORPHA:70587

Interstitial lung disease due to SP-C deficiency

Interstitial lung disease due to surfactant protein C deficiency

ORPHA:440392