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Disease Ontology Browser
neuronal ceroid lipofuscinosis 4 (DOID:0110720)
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Synonyms: autosomal dominant neuronal ceroid lipofuscinosis 4B; CLN4B disease; neuronal ceroid lipofuscinosis 4 Parry type; neuronal ceroid lipofuscinosis 4B
Alt IDs: OMIM:162350, ICD10CM:E75.4, ORDO:228343
Definition: A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13.

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