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 ×

CACH syndrome

Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter

ORPHA:135

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

Leukoencephalopathy with calcifications and cysts

Labrune syndrome · LCC

ORPHA:542310

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

ORPHA:363540

Megalencephalic leukoencephalopathy with subcortical cysts

MLC · Megalencephalic leukodystrophy

ORPHA:2478