Preferred Name | adult neuronal ceroid lipofuscinosis | |
Synonyms |
neuronal ceroid lipofuscinosis 4 CLN4 disease, adult autosomal dominant Kuf's disease Kufs disease ANCL adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults adult NCL |
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Definitions |
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0019260 |
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altLabel |
neuronal ceroid lipofuscinosis 4 CLN4 disease, adult autosomal dominant Kuf's disease Kufs disease ANCL adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults adult NCL |
|
definition |
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. |
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has_exact_synonym |
Kufs disease ANCL adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults adult NCL |
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has_related_synonym |
neuronal ceroid lipofuscinosis 4 CLN4 disease, adult autosomal dominant Kuf's disease |
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label |
adult neuronal ceroid lipofuscinosis |
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prefixIRI |
MONDO:0019260 |
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prefLabel |
adult neuronal ceroid lipofuscinosis |
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seeAlso |
https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis |
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textual definition |
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020143 |