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"

10 matching diseasesClear search ×

Gorham-Stout disease

Gorham disease · Gorham syndrome

ORPHA:73

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

ORPHA:96253

Histoplasmosis

Darling disease

ORPHA:390

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

ORPHA:3416

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

ORPHA:666

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

ORPHA:729

Rare bone disease

ORPHA:93419

Rare genetic bone disease

ORPHA:183524

Reticular dysgenesis

AK2 deficiency · De Vaal disease

ORPHA:33355

Subacute sclerosing leukoencephalitis

Dawson encephalitis · SSPE

ORPHA:2806