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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 the PLA2G5 gene on chromosome 1p36.13. (DO)
Synonyms:exact_synonym: FRFB
 primary_id: MESH:C565564
 alt_id: MIM:228980
 xref: ORDO:363989


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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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    sensory system disease 7376
      eye disease 3723
        retinal disease 1458
          familial benign fleck retina 1
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          monogenic disease 10925
            autosomal genetic disease 10412
              autosomal recessive disease 6971
                familial benign fleck retina 1
paths to the root