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 ×

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

ORPHA:255241

4H leukodystrophy

POLR-related leukodystrophy

ORPHA:289494

Dermatoleukodystrophy

Cutis laxa-leukodystrophy

ORPHA:1659

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

ORPHA:506

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

ORPHA:70474

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

ORPHA:255249

Leukodystrophy

ORPHA:68356

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

MEB disease with bilateral multicystic leucodystrophy

ORPHA:370997

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

ORPHA:77295