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Disease Ontology Browser
neuronal ceroid lipofuscinosis 10 (DOID:0110725)
Alliance: disease page
Synonyms: Cathepsin D deficiency; CLN10; neuronal ceroid lipofuscinosis cathepsin D-deficient; neuronal ceroid lipofuscinosis due to cathepsin D deficiency
Alt IDs: OMIM:610127, ICD10CM:E75.4, ORDO:228337
Definition: A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.

Disease References using Mouse Models (4)
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