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"

4 matching diseasesClear search ×

Urofacial syndrome

Hydronephrosis-inverted smile syndrome · Ochoa syndrome

ORPHA:2704

Hinman syndrome

HAS · HS

ORPHA:84085

Interstitial cystitis

Bladder pain syndrome · Painful bladder syndrome

ORPHA:37202

Neurogenic thoracic outlet syndrome

NTOS · Neurogenic TOS

ORPHA:100073