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"

200 matching diseasesClear search ×

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Lethal neonatal rigidity-multifocal seizure syndrome

ORPHA:435845

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925

Leukoencephalopathy with bilateral anterior temporal lobe cysts

ORPHA:139444

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

LBSL · Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

ORPHA:137898

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

ORPHA:542310

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

ORPHA:363540

Leukoencephalopathy-dystonia-motor neuropathy syndrome

ORPHA:163684

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386