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 ×

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

ORPHA:33577

Hemophilia B

Congenital F9 deficiency · Christmas disease

ORPHA:98879

Hereditary hemorrhagic telangiectasia

HHT · Rendu-Osler disease

ORPHA:774

OBSOLETE: Hand-Schüller-Christian disease

OBSOLETE: Multifocal eosinophilic granuloma · OBSOLETE: Chronic multifocal Langerhans cell histiocytosis

ORPHA:99873