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Disease Ontology Browser
neuronal ceroid lipofuscinosis 5 (DOID:0110728)
Alliance: disease page
Synonyms: CLN5; neuronal ceroid lipofuscinosis 5 variable age of onset
Alt IDs: OMIM:256731, ICD10CM:E75.4, ORDO:228360
Definition: A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22.

Disease References using Mouse Models (1)
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