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 ×

Dermatoleukodystrophy

Cutis laxa-leukodystrophy

ORPHA:1659

4H leukodystrophy

POLR-related leukodystrophy

ORPHA:289494

Cutis laxa

ORPHA:209

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

ORPHA:487

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

ORPHA:255241

Leukodystrophy

ORPHA:68356

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

ORPHA:2478

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

ORPHA:512

OBSOLETE: Unknown leukodystrophy

ORPHA:84096

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

ORPHA:77295

Ovarioleukodystrophy

ORPHA:99853