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"

9 matching diseasesClear search ×

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

ORPHA:342

Legg-Calvé-Perthes disease

Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis

ORPHA:2380

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

Pediatric acute respiratory distress syndrome

Pediatric ARDS · PARDS

ORPHA:685082

Pediatric arterial ischemic stroke

Childhood AIS · Childhood arterial ischemic stroke

ORPHA:439175

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

ORPHA:33402

Pediatric-onset Graves disease

Pediatric-onset Basedow disease

ORPHA:525731

Rare pediatric rheumatologic disease

ORPHA:486955

Rare pediatric systemic disease

ORPHA:280373