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neuronal ceroid lipofuscinosis

Disease Summary
Associated Targets (21)
Tbio

14

Tchem

5

Tclin

2


GARD Rare
Mondo Description Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.
Mondo Term and Equivalent IDs
MONDO:0016295:  neuronal ceroid lipofuscinosis
GARD:0010739: 
ICD10:E75.4: 
NCIT:C61257: 
OMIMPS:256730: 
Orphanet:216: 
SCTID:42012007: 
UMLS:C0027877: