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juvenile neuronal ceroid lipofuscinosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0019262

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are 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. [ Orphanet:79264 ]

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10:E75.4 (Orphanet:79264)
  • SCTID:61663001 (MONDO:equivalentTo)
  • Orphanet:79264 (MONDO:equivalentTo)
  • MedDRA:10052073 (Orphanet:79264)
  • DOID:0050756 (MONDO:obsolete)
Subsets

ordo_disease

abbreviation
JNCL [ Orphanet:79264 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C0751383

comment

Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs

definition

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are 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.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050756

http://identifiers.org/meddra/10052073

http://identifiers.org/snomedct/61663001

http://www.orpha.net/ORDO/Orphanet_79264

has exact synonym

juvenile neuronal ceroid lipofuscinosis

batten disease

Spielmeyer-Vogt disease

juvenile NCL

JNCL

id

MONDO:0019262