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Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
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| Id | http://purl.obolibrary.org/obo/MONDO_0016295
http://purl.obolibrary.org/obo/MONDO_0016295
|
|---|---|
| Preferred Name | neuronal ceroid lipofuscinosis |
| Definitions |
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.
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| Synonyms |
neuronal ceroid lipofuscinosis
ceroid lipofuscinoses
NCL
hereditary ceroid lipofuscinosis
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| altLabel |
neuronal ceroid lipofuscinosis
ceroid lipofuscinoses
NCL
hereditary ceroid lipofuscinosis
|
| label |
neuronal ceroid lipofuscinosis
|
| prefLabel |
neuronal ceroid lipofuscinosis
|
| prefixIRI |
MONDO:0016295
|
| textual 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.
|
| subClassOf | |
| type | |
| has_exact_synonym |
neuronal ceroid lipofuscinosis
ceroid lipofuscinoses
NCL
hereditary ceroid lipofuscinosis
|
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