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Summary Literature (0)
DOID:0110731 - neuronal ceroid lipofuscinosis 3

Disease Ontology 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.

Synonyms: Batten disease, CLN3, juvenile neuronal ceroid lipofuscinosis,

Xenbase Genes : cln3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008767 - neuronal ceroid lipofuscinosis 3


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), genetic disease (is_a), neuronal ceroid lipofuscinosis (is_a)