A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments. [ NCIT:C61258 ]

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:228346 (OMIM:204200)
  • OMIM:204200 (Orphanet:228346)
  • ICD10:E75.4 (Orphanet:228346)
  • NCIT:C61258 (MONDO:equivalentTo)
  • DOID:0110731 (MONDO:equivalentTo)
  • GARD:0005897 (OMIM-shared)
Subsets

ordo_etiological_subtype

abbreviation
CLN3 [ MONDO:Lexical https://omim.org/entry/204200 DOID:0110731 ]

closeMatch

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

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

exactMatch

http://www.orpha.net/ORDO/Orphanet_228346

http://identifiers.org/omim/204200

http://purl.obolibrary.org/obo/NCIT_C61258

http://purl.obolibrary.org/obo/DOID_0110731

has exact synonym

CLN3

juvenile neuronal ceroid lipofuscinosis

neuronal ceroid lipofuscinosis caused by mutation in CLN3

neuronal ceroid lipofuscinosis type 3

CLN3 neuronal ceroid lipofuscinosis

ceroid lipofuscinosis, neuronal, type 3

has related synonym

CLN3 disease

Vogt-Spielmeyer disease

batten disease

Spielmeyer-Sjogren disease

Vogt Spielmeyer disease

CLN3 disease, juvenile

ceroid lipofuscinosis, neuronal, 3

Spielmeyer Sjogren disease

neuronal ceroid lipofuscinosis, juvenile

id

MONDO:0008767