loading...| Preferred Name | juvenile neuronal ceroid lipofuscinosis | |
| Synonyms |
Spielmeyer-Vogt disease juvenile neuronal ceroid lipofuscinosis juvenile NCL batten disease JNCL |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019262 |
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| database_cross_reference |
MedDRA:10052073 SCTID:61663001 NANDO:2201243 Orphanet:79264 icd11.foundation:1716107919 DOID:0050756 NANDO:1200154 GARD:4938 |
|
| 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 |
Spielmeyer-Vogt disease juvenile neuronal ceroid lipofuscinosis juvenile NCL batten disease JNCL |
|
| id |
MONDO:0019262 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
juvenile neuronal ceroid lipofuscinosis |
|
| notation |
MONDO:0019262 |
|
| preferred label |
juvenile neuronal ceroid lipofuscinosis |
|
| prefLabel |
juvenile neuronal ceroid lipofuscinosis |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/61663001 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1716107919 |
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| subClassOf | ||
| excluded_subClassOf |