loading...| Preferred Name | neuronal ceroid lipofuscinosis | |
| Synonyms |
neuronal ceroid lipofuscinosis ceroid lipofuscinoses NCL hereditary 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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| ID |
http://purl.obolibrary.org/obo/MONDO_0016295 |
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| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0016295 |
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| database_cross_reference |
MEDGEN:10326 NANDO:2200573 icd11.foundation:1568332253 SCTID:42012007 OMIMPS:256730 DOID:14503 ICD10CM:E75.4 NANDO:1200150 UMLS:C0027877 Orphanet:216 GARD:10739 NCIT:C61257 |
|
| 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. |
|
| has_exact_synonym |
neuronal ceroid lipofuscinosis ceroid lipofuscinoses NCL hereditary ceroid lipofuscinosis |
|
| id |
MONDO:0016295 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#disease_grouping |
|
| label |
neuronal ceroid lipofuscinosis |
|
| notation |
MONDO:0016295 |
|
| prefLabel |
neuronal ceroid lipofuscinosis |
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| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| skos_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 |
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| treeView | ||
| subClassOf |