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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 term: Fleck retina, familial benign OMIM
ClinVar
PMID:17502520 PMID:22137173 PMID:25549071 PMID:28492532 NCBI chr 5:151,041,339...151,109,433
Ensembl chr 5:151,041,340...151,062,658
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          familial benign fleck retina 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        genetic disease 11174
          monogenic disease 8709
            autosomal genetic disease 7745
              autosomal recessive disease 4832
                familial benign fleck retina 1
paths to the root