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 ×

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS

ORPHA:912

Infantile Refsum disease

IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

ORPHA:772

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

ORPHA:280210

Peroxisome biogenesis disorder

Peroxisome biogenesis disorder spectrum · Peroxisome biogenesis disorder-Zellweger spectrum disorder

ORPHA:79189