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Disease Ontology Browser
neuronal ceroid lipofuscinosis 6A (DOID:0110729)
Alliance: disease page
Synonyms: 'CLN6'; 'neuronal ceroid lipofuscinosis 6 variable age of onset'; 'neuronal ceroid lipofuscinosis 6'
Alt IDs: OMIM:601780, ICD10CM:E75.4, ORDO:228363
Definition: A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.

Disease References using Mouse Models (3)

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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last database update
06/23/2022
MGI 6.20
The Jackson Laboratory