OBO ID: DOID:0110731
Term Name: neuronal ceroid lipofuscinosis 3 Search Ontology:
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)
OTHER neuronal ceroid lipofuscinosis 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN3 Ceroid lipofuscinosis, neuronal, 3 204200
PHENOTYPE No data available

CITATIONS (3)