OBO ID: DOID:0110728 |
Term Name: | neuronal ceroid lipofuscinosis 5 | Search Ontology: | |
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Definition: | A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. (2) | ||
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Ontology: | Human Disease ( DOID:0110728 ) |
OTHER neuronal ceroid lipofuscinosis 5 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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