Search Ontology:
Human Disease
familial benign fleck retina
- Term ID
- DOID:0111677
- Synonyms
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- FRFB
- 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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- MESH:C565564
- MIM:228980
- ORDO:363989
- SNOMEDCT_US_2023_03_01:770434009
- UMLS_CUI:C1856718
- Ontology
- Human Disease ( DOID:0111677 )
- is a type of
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Genes Involved
Zebrafish Models