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"

4 matching diseasesClear search ×

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

ORPHA:702

Persistent Müllerian duct syndrome

PMDS · Persistent Müllerian derivatives

ORPHA:2856

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

ORPHA:280210

Pyomyositis

Myositis purulenta tropica · Myositis tropicans

ORPHA:764