OBO ID: DOID:0111677
Term Name: familial benign fleck retina Search Ontology:
Synonyms:
  • 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 PLA2G5 on chromosome 1p36.13. https://www.ncbi.nlm.nih.gov/pubmed/22137173
References:
Ontology: Human Disease   (DOID:0111677)
OTHER familial benign fleck retina PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLA2G5 [Fleck retina, familial benign] 228980
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None