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"

3 matching diseasesClear search ×

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

ORPHA:774

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

ORPHA:33577

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729