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Disease Ontology Browser
neuronal ceroid lipofuscinosis 1 (DOID:0110721)
Alliance: disease page
Synonyms: CLN1; neuronal ceroid lipofuscinosis 1 variable age of onset
Alt IDs: OMIM:256730, ICD10CM:E75.4, ORDO:228329
Definition: A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34.

Disease References using Mouse Models (9)
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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11/12/2024
MGI 6.24 		The Jackson Laboratory