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Experimental Factor Ontology
| Preferred Name | neuronal ceroid lipofuscinosis | |
| Synonyms |
neuronal ceroid lipofuscinosis hereditary ceroid lipofuscinosis ceroid lipofuscinoses NCL |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0016295 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0016295 |
|
| database_cross_reference |
NANDO:2200573 ICD10CM:E75.4 icd11.foundation:1568332253 SCTID:42012007 NCIT:C61257 OMIMPS:256730 UMLS:C0027877 NANDO:1200150 Orphanet:216 MEDGEN:10326 DOID:14503 GARD:10739
|
|
| 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.
|
|
| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_216 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1568332253 http://purl.obolibrary.org/obo/DOID_14503 http://linkedlifedata.com/resource/umls/id/C0027877 http://identifiers.org/medgen/10326 https://omim.org/phenotypicSeries/PS256730 http://purl.obolibrary.org/obo/NCIT_C61257 |
|
| has_exact_synonym |
neuronal ceroid lipofuscinosis hereditary ceroid lipofuscinosis ceroid lipofuscinoses NCL
|
|
| id |
MONDO:0016295
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
neuronal ceroid lipofuscinosis
|
|
| notation |
MONDO:0016295
|
|
| preferred label |
neuronal ceroid lipofuscinosis
|
|
| prefLabel |
neuronal ceroid lipofuscinosis
|
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| subClassOf |
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