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"

12 matching diseasesClear search ×

Interstitial lung disease-brain calcification syndrome

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

ORPHA:178506

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

ORPHA:444092

Celiac disease-epilepsy-cerebral calcification syndrome

CEC

ORPHA:1459

Genetic interstitial lung disease

Genetic ILD

ORPHA:264992

Interstitial lung disease

ILD

ORPHA:182095

Interstitial lung disease due to SP-C deficiency

Interstitial lung disease due to surfactant protein C deficiency

ORPHA:440392

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-nephrotic syndrome-epidermolysis bullosa syndrome

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

ORPHA:306504

Primary interstitial lung disease specific to childhood

Primary ILD specific to childhood

ORPHA:264665

Respiratory bronchiolitis-interstitial lung disease syndrome

RB-ILD

ORPHA:79127