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 ×

Pelizaeus-Merzbacher-like disease

PMLD

ORPHA:280270

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

ORPHA:280282

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

ORPHA:217260