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 ×

Peroxisomal acyl-CoA oxidase deficiency

Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy

ORPHA:2971

Adrenomyodystrophy

ORPHA:977

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder

ORPHA:44

X-linked adrenoleukodystrophy

ALD · X-ALD

ORPHA:43

X-linked cerebral adrenoleukodystrophy

X-CALD

ORPHA:139396