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Neuronal Ceroid Lipofuscinosis Type 3

Go to external page http://purl.obolibrary.org/obo/NCIT_C61258

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. [ ]

Term info

Label

Neuronal Ceroid Lipofuscinosis Type 3

Synonyms
  • Batten Disease
  • CLN3
  • Neuronal Ceroid Lipofuscinosis Type 3
Legacy Concept Name

Batten_Disease

Preferred Name

Neuronal Ceroid Lipofuscinosis Type 3

Semantic Type

Disease or Syndrome

UMLS CUI

C0751383

code

C61258