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"

14 matching diseasesClear search ×

Interstitial lung disease due to SP-C deficiency

Interstitial lung disease due to surfactant protein C deficiency

ORPHA:440392

EBV-induced lymphoproliferative disease due to PRKCD deficiency

EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency

ORPHA:664711

Genetic interstitial lung disease

Genetic ILD

ORPHA:264992

Interstitial lung disease

ILD

ORPHA:182095

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 specific to adulthood

ILD specific to adulthood

ORPHA:264735

Interstitial lung disease specific to childhood

ILD specific to childhood

ORPHA:264656

Interstitial lung disease specific to infancy

ILD specific to infancy

ORPHA:264694

Neonatal acute respiratory distress syndrome

Neonatal RDS · Hyaline membrane disease

ORPHA:217563

Predisposition to invasive fungal disease due to CARD9 deficiency

Invasive candidiasis-deep dermatophytosis syndrome

ORPHA:457088

Primary interstitial lung disease specific to adulthood

Primary ILD specific to adulthood

ORPHA:264740

Primary interstitial lung disease specific to childhood

Primary ILD specific to childhood

ORPHA:264665

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Primary ILD specific to childhood due to pulmonary surfactant protein anomalies

ORPHA:100049

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

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

ORPHA:440427