OBO ID: DOID:0110721 |
Term Name: | neuronal ceroid lipofuscinosis 1 | Search Ontology: | |
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Definition: | A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/7637805 | ||
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Ontology: | Human Disease ( DOID:0110721 ) |
OTHER neuronal ceroid lipofuscinosis 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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