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"

7 matching diseasesClear search ×

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

ORPHA:2478

Cystic leukoencephalopathy without megalencephaly

CLWM

ORPHA:85136

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

ORPHA:255241

Leukoencephalopathy-dystonia-motor neuropathy syndrome

ORPHA:163684

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

ORPHA:83629

Megalencephaly-capillary malformation-polymicrogyria syndrome

MCAP · MCM

ORPHA:60040

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

ORPHA:512