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"

8 matching diseasesClear search ×

Relapsing isolated optic neuritis

RION · Isolated relapsing optic neuropathy

ORPHA:659634

Familial Alzheimer-like prion disease

ORPHA:280397

Human prion disease

TSE · Transmissible spongiform encephalopathy

ORPHA:56970

Inherited human prion disease

Familial prion disease · Genetic human prion disease

ORPHA:280400

Kerion celsi

ORPHA:499

Rare disorder related to monochorionic twin pregnancy

ORPHA:617307

Variably protease-sensitive prionopathy

ORPHA:454742

Chronic relapsing inflammatory optic neuritis

CRION

ORPHA:499085