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"

9 matching diseasesClear search ×

Peroxisome biogenesis disorder

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

ORPHA:79189

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

ORPHA:529808

Infantile Refsum disease

IRD · Mild peroxisome biogenesis disorder-Zellweger spectrum disorder

ORPHA:772

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder

ORPHA:44

Otopalatodigital syndrome spectrum disorder

OPSD · OPD spectrum disorder

ORPHA:364541

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

ORPHA:662721

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome

ORPHA:3198

Zellweger syndrome

Cerebrohepatorenal syndrome · ZS

ORPHA:912