loading...| Preferred Name | neuronal ceroid lipofuscinosis | |
| Synonyms |
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| Definitions |
Neuronal Ceroid Lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem lipo-, which is a variation on "lipid" or "fat", and from the term pigment, used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys. There have been at least 9 types of neuronal ceroid lipofuscinosis identified based on the associated gene. These subtypes should be added to the ontology as well. See http://en.wikipedia.org/wiki/Neuronal_ceroid_lipofuscinosis for a list of these subtypes. |
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| ID |
http://purl.obolibrary.org/obo/ND_0000137 |
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| comment |
There have been at least 9 types of neuronal ceroid lipofuscinosis identified based on the associated gene. These subtypes should be added to the ontology as well. See http://en.wikipedia.org/wiki/Neuronal_ceroid_lipofuscinosis for a list of these subtypes. |
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| database_cross_reference |
http://ontology.neuinfo.org/NIF/Dysfunction/NIF-Dysfunction.owl#birnlex_12831 |
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| definition editor |
Alexander P. Cox |
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| definition source | ||
| label |
neuronal ceroid lipofuscinosis |
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| prefixIRI |
ND:0000137 |
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| prefLabel |
neuronal ceroid lipofuscinosis |
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| textual definition |
Neuronal Ceroid Lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem lipo-, which is a variation on "lipid" or "fat", and from the term pigment, used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys. |
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| subClassOf |