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Disease association ontology term - MONDO:0016295 - neuronal ceroid lipofuscinosis

Term summary

ID
MONDO:0016295
Name
neuronal ceroid lipofuscinosis
Ontology or CV name
Disease association
Definition
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.

Parents

Annotation

Disease association

MONDO:0008083 - ceroid lipofuscinosis, neuronal, 4 (Kufs type)

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Genes:

MONDO:0009744 - neuronal ceroid lipofuscinosis 1

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Genes:

MONDO:0008767 - neuronal ceroid lipofuscinosis 3

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Genes: