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Metadata
ID	DOID:0111677
Name	familial benign fleck retina
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
Xrefs	MESH:C565564 OMIM:228980 ORDO:363989 SNOMEDCT_US_2023_03_01:770434009 UMLS_CUI:C1856718
Subsets	DO_rare_slim
Synonyms	FRFB [EXACT]
Parent Relationships	is_a retinal disease is_a autosomal recessive disease