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"

10 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

Interstitial lung disease

ILD

ORPHA:182095

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

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects · HNRPH1-related neurodevelopmental disorder

ORPHA:662207

Ossification anomalies-psychomotor developmental delay syndrome

ORPHA:73230

Respiratory bronchiolitis-interstitial lung disease syndrome

RB-ILD

ORPHA:79127