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"

11 matching diseasesClear search ×

Peroxisomal acyl-CoA oxidase deficiency

Pseudo-NALD · Pseudo-neonatal adrenoleukodystrophy

ORPHA:2971

4H leukodystrophy

POLR-related leukodystrophy

ORPHA:289494

Adrenomyodystrophy

ORPHA:977

Dermatoleukodystrophy

Cutis laxa-leukodystrophy

ORPHA:1659

Leukodystrophy

ORPHA:68356

Mucolipidosis type III

Pseudo-Hurler polydystrophy

ORPHA:577

Neonatal adrenoleukodystrophy

NALD · Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder

ORPHA:44

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

ORPHA:77295

Ovarioleukodystrophy

ORPHA:99853

X-linked adrenoleukodystrophy

ALD · X-ALD

ORPHA:43

X-linked cerebral adrenoleukodystrophy

X-CALD

ORPHA:139396