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"

5 matching diseasesClear search ×

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

ORPHA:702

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

ORPHA:280234

Pelizaeus-Merzbacher disease, classic form

Classic PMD

ORPHA:280219

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

ORPHA:280210

Pelizaeus-Merzbacher-like disease

PMLD

ORPHA:280270