Link to this page
Digital medicine Outcomes Value Set (DOVeS) Ontology
Last uploaded:
December 13, 2023
Jump to:
| Preferred Name | juvenile neuronal ceroid lipofuscinosis | |
| Synonyms |
juvenile NCL JNCL juvenile neuronal ceroid lipofuscinosis batten disease Spielmeyer-Vogt disease |
|
| 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 |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019262 |
|
| comment |
Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs
|
|
| altLabel |
juvenile NCL JNCL juvenile neuronal ceroid lipofuscinosis batten disease Spielmeyer-Vogt disease
|
|
| 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. Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs
|
|
| has_exact_synonym |
juvenile NCL JNCL juvenile neuronal ceroid lipofuscinosis batten disease Spielmeyer-Vogt disease
|
|
| label |
juvenile neuronal ceroid lipofuscinosis
|
|
| prefixIRI |
MONDO:0019262
|
|
| prefLabel |
juvenile neuronal ceroid lipofuscinosis
|
|
| textual 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.
|
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020143 |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping