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neuronal ceroid lipofuscinosis 3

^ http://purl.obolibrary.org/obo/MONDO_0008767

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 ]

Term info

database cross reference
  • Orphanet:228346 (OMIM:204200)
  • OMIM:204200 (Orphanet:228346/e)
  • NCIT:C61258 (MONDO:equivalentTo)
  • GARD:0005897 (MONDO:equivalentTo)
  • DOID:0110731 (MONDO:equivalentTo)
Subsets

ordo_etiological_subtype

abbreviation
CLN3 [ OMIM:204200 DOID:0110731 MONDO:Lexical ]

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://purl.obolibrary.org/obo/Orphanet_228346, http://purl.obolibrary.org/obo/NCIT_C61258, http://purl.obolibrary.org/obo/DOID_0110731, https://omim.org/entry/204200

has exact synonym

CLN3, neuronal ceroid lipofuscinosis 3, 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, Vogt Spielmeyer disease, Spielmeyer-Sjogren disease, batten disease, ceroid lipofuscinosis, neuronal, 3, CLN3 disease, juvenile, Spielmeyer Sjogren disease, neuronal ceroid lipofuscinosis, juvenile

id

MONDO:0008767

Term relations