loading...| Preferred Name | juvenile neuronal ceroid lipofuscinosis | |
| Synonyms |
juvenile NCL JNCL juvenile neuronal ceroid lipofuscinosis batten disease Spielmeyer-Vogt disease |
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| Definitions |
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0019262 |
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| comment |
Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs |
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| database_cross_reference |
icd11.foundation:1716107919 GARD:4938 Orphanet:79264 DOID:0050756 NANDO:2201243 SCTID:61663001 MedDRA:10052073 NANDO:1200154 |
|
| definition |
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. |
|
| has_exact_synonym |
juvenile NCL JNCL juvenile neuronal ceroid lipofuscinosis batten disease Spielmeyer-Vogt disease |
|
| id |
MONDO:0019262 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#rare |
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| label |
juvenile neuronal ceroid lipofuscinosis |
|
| notation |
MONDO:0019262 |
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| prefLabel |
juvenile neuronal ceroid lipofuscinosis |
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| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/61663001 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1716107919 |
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| terms_conformsTo | ||
| treeView | ||
| excluded subClassOf | ||
| subClassOf |