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 ×

Sporadic Creutzfeldt-Jakob disease

Sporadic CJD

ORPHA:204

Multiple system atrophy, cerebellar type

MSA, cerebellar type · MSA-c

ORPHA:227510

Sporadic infantile bilateral striatal necrosis

Sporadic IBSN · Sporadic infantile striatonigral degeneration

ORPHA:225147