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Disease Ontology Browser
neuronal ceroid lipofuscinosis 3 (DOID:0110731)
Alliance: disease page
Synonyms: Batten disease; CLN3; juvenile neuronal ceroid lipofuscinosis
Alt IDs: OMIM:204200, ICD10CM:E75.4, ORDO:228346
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.

Disease References using Mouse Models (14)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory