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"

200 matching diseasesClear search ×

Permanent congenital hypothyroidism

ORPHA:226292

Persistent idiopathic facial pain

AFP · Atypical facial pain

ORPHA:398147

Polyarticular juvenile idiopathic arthritis

Juvenile polyarticular arthritis · Juvenile polyarthritis

ORPHA:404580

Primary congenital hypothyroidism

ORPHA:226295

Primary congenital hypothyroidism without thyroid developmental anomaly

ORPHA:95714

Progressive encephalomyelitis with rigidity and myoclonus

PERM

ORPHA:438266

Pseudohypoparathyroidism

ORPHA:97593

Pseudohypoparathyroidism type 1A

AHO-PHP syndrome Ia · Albright hereditary osteodystrophy-PHP syndrome Ia

ORPHA:79443