OBO ID: DOID:0110731 |
Term Name: | neuronal ceroid lipofuscinosis 3 | Search Ontology: | |
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Synonyms: |
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Definition: | A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (3) | ||
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Ontology: | Human Disease ( DOID:0110731 ) |
OTHER neuronal ceroid lipofuscinosis 3 PAGES
ZEBRAFISH MODELS
Fish | Conditions | Citations |
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TL + MO1-cln3 | standard conditions | Wager et al., 2016 |
TL + MO2-cln3 | standard conditions | Wager et al., 2016 |
PHENOTYPE
No data available
CITATIONS (3)
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