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"

17 matching diseasesClear search ×

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ILNEB syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome

ORPHA:306504

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

ORPHA:444092

Genetic interstitial lung disease

Genetic ILD

ORPHA:264992

Interstitial lung disease

ILD

ORPHA:182095

Interstitial lung disease in childhood and adulthood

ILD in childhood and adulthood

ORPHA:264757

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

Interstitial lung disease-brain calcification syndrome

Interstitial lung disease-brain calcification syndrome, Rajab type · Developmental delay-brain calcification-interstitial lung disease syndrome

ORPHA:178506

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

ORPHA:255249

Primary interstitial lung disease in childhood and adulthood

Primary ILD in childhood and adulthood

ORPHA:264762

Respiratory bronchiolitis-interstitial lung disease syndrome

RB-ILD

ORPHA:79127

Secondary interstitial lung disease in childhood and adulthood

Secondary ILD in childhood and adulthood

ORPHA:264944

Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease

Secondary ILD in childhood and adulthood associated with a metabolic disease

ORPHA:264968

Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease

Secondary ILD in childhood and adulthood associated with a systemic disease

ORPHA:264949

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

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

ORPHA:440427

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

ORPHA:91500