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Disease Ontology Browser
neuronal ceroid lipofuscinosis 2 (DOID:0110726)
Alliance: disease page
Synonyms: CLN2; neuronal ceroid lipofuscinosis 2 variable age at onset
Alt IDs: OMIM:204500, ICD10CM:E75.4, ORDO:228349
Definition: A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15.

Disease References using Mouse Models (5)
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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04/16/2024
MGI 6.23 		The Jackson Laboratory