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ONTOLOGY REPORT - ANNOTATIONS


Term:late-onset retinal degeneration
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Accession:DOID:0060869 term browser browse the term
Definition:A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: LORD;   Retinal Degeneration, Late-Onset, Autosomal Dominant
 primary_id: MESH:C565309;   RDO:0013983
 alt_id: OMIM:605670
 xref: GARD:4357;   ORDO:67042
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late-onset retinal degeneration term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:7240710
RGD:9068941
G CRB1 crumbs cell polarity complex component 1 JBrowse link 10 20,137,246 20,332,539 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:9068941
G PLA2G5 phospholipase A2 group V JBrowse link 6 78,365,697 78,376,383 RGD:9068941

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Term Annotations click to browse term
  disease 12166
    sensory system disease 4427
      eye disease 2230
        eye degenerative disease 397
          retinal degeneration 396
            late-onset retinal degeneration 4
Path 2
Term Annotations click to browse term
  disease 12166
    disease of anatomical entity 11828
      nervous system disease 9535
        central nervous system disease 7964
          neurodegenerative disease 2781
            eye degenerative disease 397
              retinal degeneration 396
                late-onset retinal degeneration 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.