About   Help   FAQ
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory