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 ×

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

ORPHA:77295

Bilirubin encephalopathy

Kernicterus

ORPHA:415286

Cree leukoencephalopathy

ORPHA:99854

Cystic leukoencephalopathy without megalencephaly

CLWM

ORPHA:85136

Episodic memory defect leukoencephalopathy

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

ORPHA:662229

Ethylmalonic encephalopathy

ORPHA:51188

Glycine encephalopathy

NKA · Non-ketotic hyperglycinemia

ORPHA:407

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-metaphyseal chondrodysplasia syndrome · H-SMD

ORPHA:83629

Progressive cavitating leukoencephalopathy

ORPHA:139447

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

ORPHA:363400

Progressive multifocal leukoencephalopathy

PML · Progressive multifocal leukoencephalitis

ORPHA:217260