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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 8 48,443,515 48,445,639 RGD:7240710
RGD:8554872
G Crb1 crumbs cell polarity complex component 1 JBrowse link 13 56,270,519 56,462,893 RGD:8552692
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:8554872
G Pla2g5 phospholipase A2, group V JBrowse link 5 157,247,601 157,268,968 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15608
    sensory system disease 4766
      eye disease 2337
        eye degenerative disease 418
          retinal degeneration 416
            late-onset retinal degeneration 4
Path 2
Term Annotations click to browse term
  disease 15608
    disease of anatomical entity 14965
      nervous system disease 10397
        central nervous system disease 8545
          neurodegenerative disease 2951
            eye degenerative disease 418
              retinal degeneration 416
                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.