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Cell Culture Ontology
Last uploaded:
July 23, 2014
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| Id | http://purl.obolibrary.org/obo/MONDO_0019260
http://purl.obolibrary.org/obo/MONDO_0019260
|
|---|---|
| Preferred Name | adult neuronal ceroid lipofuscinosis |
| 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.
|
| Synonyms |
CLN4 disease, adult autosomal dominant
neuronal ceroid lipofuscinosis 4
Kuf's disease
adult neuronal ceroid lipofuscinosis
neuronal ceroid lipofuscinosis of adults
Kufs disease
ANCL
adult NCL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| 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. |
|---|---|
| preferred label |
adult neuronal ceroid lipofuscinosis
|
| label |
adult neuronal ceroid lipofuscinosis
|
| prefLabel |
adult neuronal ceroid lipofuscinosis
|
| database_cross_reference |
Orphanet:79262
MEDGEN:7230
NANDO:2201244
SCTID:62009002
NANDO:1200155
icd11.foundation:1460031344
UMLS:C0022797
GARD:10973
NORD:1341
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|
| notation |
MONDO:0019260
|
| in_subset | |
| has_related_synonym |
CLN4 disease, adult autosomal dominant
neuronal ceroid lipofuscinosis 4
Kuf's disease
|
| id |
MONDO:0019260
|
| skos_exactMatch | |
| see also | |
| subClassOf | |
| type | |
| has_exact_synonym |
adult neuronal ceroid lipofuscinosis
neuronal ceroid lipofuscinosis of adults
Kufs disease
ANCL
adult NCL
|
| curated_content_resource | |
| excluded_subClassOf |
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