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 ×

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

ORPHA:100026

Heavy chain disease

HCD

ORPHA:86864

Mucolipidosis type III gamma

ML 3 gamma · ML III gamma

ORPHA:423470