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Disease Ontology Browser
neuronal ceroid lipofuscinosis 2 (DOID:0110726)
Synonyms: CLN2; neuronal ceroid lipofuscinosis 2 variable age at onset
Alt IDs: OMIM:204500, ICD10CM:E75.4, ORDO:168491, ORDO:228349, ORDO:79264
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory