Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 3

Term ID
DOID:0110731
Synonyms
  • Batten disease
  • CLN3
  • juvenile neuronal ceroid lipofuscinosis
Definition
A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (3)
References
Ontology
Human Disease   ( DOID:0110731 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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