OBO ID: DOID:0111677 |
Term Name: | familial benign fleck retina | Search Ontology: | |
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Synonyms: |
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Definition: | A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. https://www.ncbi.nlm.nih.gov/pubmed/22137173 | ||
References: |
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Ontology: | Human Disease ( DOID:0111677 ) |
OTHER familial benign fleck retina PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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PLA2G5 | [Fleck retina, familial benign] |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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