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juvenile neuronal ceroid lipofuscinosis

^ http://purl.obolibrary.org/obo/MONDO_0019262

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 ]

Term info

database cross reference
  • MedDRA:10052073 (Orphanet:79264/e)
  • Orphanet:79264 (MONDO:equivalentTo)
  • SCTID:61663001 (MONDO:equivalentTo)
  • DOID:0050756 (MONDO:equivalentObsolete)
Subsets

ordo_disease

abbreviation
JNCL [ Orphanet:79264 ]

closeMatch

http://identifiers.org/meddra/10052073

comment

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

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_79264, http://identifiers.org/snomedct/61663001

has exact synonym

juvenile neuronal ceroid lipofuscinosis, batten disease, Spielmeyer-Vogt disease, juvenile NCL, JNCL

id

MONDO:0019262