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 ×

Early-onset autosomal dominant Alzheimer disease

EOFAD · Early-onset familial autosomal dominant Alzheimer disease

ORPHA:1020

IgG4-related disease

IgG4-related sclerosing disease · Immunoglobulin G4-related sclerosing disease

ORPHA:284264

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

ORPHA:54247