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 ×

Pediatric-onset Graves disease

Pediatric-onset Basedow disease

ORPHA:525731

Glycogen storage disease due to acid maltase deficiency, late-onset

GSD type II, late-onset · Glycogen storage disease type II, late-onset

ORPHA:420429

OBSOLETE: Hereditary pediatric Behçet-like disease

OBSOLETE: Behçet-like disease due to HA20 · OBSOLETE: Behçet-like disease due to haploinsufficiency of A20

ORPHA:476102

OBSOLETE: Pediatric Castleman disease

ORPHA:93682

OBSOLETE: Pediatric polyarteritis nodosa

OBSOLETE: PAN, pediatric onset

ORPHA:93564

Pediatric systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

ORPHA:93552

Pediatric-onset glaucoma

ORPHA:523000

Rare pediatric rheumatologic disease

ORPHA:486955

Rare pediatric systemic disease

ORPHA:280373