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"

15 matching diseasesClear search ×

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

ORPHA:83629

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

ORPHA:1380

Cree leukoencephalopathy

ORPHA:99854

Cystic leukoencephalopathy without megalencephaly

CLWM

ORPHA:85136

Diencephalic syndrome

Diencephalic cachexia · Diencephalic syndrome of childhood

ORPHA:1672

Episodic memory defect leukoencephalopathy

White matter hyperintensities-episodic memory defect leukoencephalopathy · Hippocampal memory defect leukoencephalopathy

ORPHA:662229

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Lethal neonatal rigidity-multifocal seizure syndrome

ORPHA:435845

Leukoencephalopathy-dystonia-motor neuropathy syndrome

ORPHA:163684

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

COXPD12 · LTBL

ORPHA:314051

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

ORPHA:2478

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

ORPHA:77295

Progressive cavitating leukoencephalopathy

ORPHA:139447

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

ORPHA:217260

Renal tubulopathy-encephalopathy-liver failure syndrome

ORPHA:254902