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 ×

Multiple self-healing squamous epithelioma

Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type · Ferguson-Smith disease

ORPHA:65748

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Wilson disease

Hepatolenticular degeneration

ORPHA:905