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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:familial benign fleck retina
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Accession:DOID:0111677 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FRFB
 primary_id: MESH:C565564
 alt_id: OMIM:228980
 xref: ORDO:363989
For additional species annotation, visit the Alliance of Genome Resources.


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familial benign fleck retina term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g5 phospholipase A2, group V ISO ClinVar Annotator: match by OMIM:228980
ClinVar Annotator: match by term: Fleck retina, familial benign
OMIM
ClinVar
PMID:17502520, PMID:22137173 NCBI chr 5:157,247,601...157,268,968
Ensembl chr 5:157,247,781...157,268,903
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          familial benign fleck retina 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                familial benign fleck retina 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.