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ONTOLOGY REPORT - ANNOTATIONS


Term:retinoblastoma
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Accession:DOID:768 term browser browse the term
Definition:A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)
Synonyms:exact_synonym: Eye Cancer, Retinoblastoma;   RB;   RB - Retinoblastoma;   RB1;   Retinal Glioblastoma;   Retinal Glioblastomas;   Retinal Glioma;   Retinal Gliomas;   Retinal Neuroblastoma;   Retinal Neuroblastomas;   Retinoblastomas;   neuroblastoma of Retina;   sporadic retinoblastoma;   sporadic retinoblastomas
 primary_id: MESH:D012175
 alt_id: OMIM:180200;   RDO:0006481
 xref: GARD:7563;   NCI:C6956;   NCI:C7541
For additional species annotation, visit the Alliance of Genome Resources.


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retinoblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alk ALK receptor tyrosine kinase JBrowse link NW_004955469 11,049,373 11,751,235 RGD:9068941
G Apc APC regulator of WNT signaling pathway JBrowse link NW_004955418 2,567,804 2,675,062 RGD:9068941
G Brca2 BRCA2 DNA repair associated JBrowse link NW_004955431 13,449,287 13,526,878 RGD:9068941
G Cadm2 cell adhesion molecule 2 JBrowse link NW_004955407 7,070,355 7,355,841 RGD:9068941
G Cebpa CCAAT enhancer binding protein alpha JBrowse link NW_004955468 3,046,544 3,049,217 RGD:9068941
G Fancm FA complementation group M JBrowse link NW_004955409 16,751,658 16,809,352 RGD:9068941
G Fas Fas cell surface death receptor JBrowse link NW_004955425 3,961,671 3,987,513 RGD:9068941
G Itm2b integral membrane protein 2B JBrowse link NW_004955431 1,928,706 1,935,010 RGD:9068941
G Kdm1b lysine demethylase 1B JBrowse link NW_004955483 8,000,862 8,052,486 RGD:9068941
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link NW_004955431 2,077,093 2,079,000 RGD:9068941
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link NW_004955495 4,695,239 4,718,380 RGD:9068941
G Max MYC associated factor X JBrowse link NW_004955466 4,816,568 4,842,659 RGD:9068941
G Med4 mediator complex subunit 4 JBrowse link NW_004955431 1,794,863 1,812,641 RGD:9068941
G Mgmt O-6-methylguanine-DNA methyltransferase JBrowse link NW_004955477 7,103,035 7,375,073 RGD:9068941
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link NW_004955492 3,372,915 3,474,173 RGD:9068941
G Mutyh mutY DNA glycosylase JBrowse link NW_004955464 12,927,669 12,936,894 RGD:9068941
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
G Nudt15 nudix hydrolase 15 JBrowse link NW_004955431 1,767,971 1,775,555 RGD:9068941
G Palb2 partner and localizer of BRCA2 JBrowse link NW_004955493 2,149,053 2,175,482 RGD:9068941
G Ptch1 patched 1 JBrowse link NW_004955422 22,362,330 22,418,062 RGD:9068941
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link NW_004955429 17,980,956 18,049,723 RGD:9068941
G Rb1 RB transcriptional corepressor 1 JBrowse link NW_004955431 1,960,765 2,124,576 RGD:7240710
G Serpinf1 serpin family F member 1 JBrowse link NW_004955481 1,414,930 1,426,436 RGD:9068941
G Sncg synuclein gamma JBrowse link NW_004955510 5,958,276 5,961,719 RGD:9068941
G Stk11 serine/threonine kinase 11 JBrowse link NW_004955495 6,678,195 6,699,408 RGD:9068941
G Tsc2 TSC complex subunit 2 JBrowse link NW_004955442 15,178,356 15,216,978 RGD:9068941
chromosome 13q14 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acod1 aconitate decarboxylase 1 JBrowse link NW_004955404 30,254,934 30,266,898 RGD:9068941
G Alg11 ALG11 alpha-1,2-mannosyltransferase JBrowse link NW_004955431 5,297,477 5,320,653 RGD:9068941
G Arl11 ADP ribosylation factor like GTPase 11 JBrowse link NW_004955431 3,086,983 3,090,423 RGD:9068941
G Atp7b ATPase copper transporting beta JBrowse link NW_004955431 5,228,395 5,297,120 RGD:9068941
G Bora BORA aurora kinase A activator JBrowse link NW_004955404 33,923,496 33,946,113 RGD:9068941
G Cab39l calcium binding protein 39 like JBrowse link NW_004955431 2,781,714 2,899,857 RGD:9068941
G Ccdc70 coiled-coil domain containing 70 JBrowse link NW_004955431 5,166,451 5,170,263 RGD:9068941
G Cdadc1 cytidine and dCMP deaminase domain containing 1 JBrowse link NW_004955431 2,724,988 2,767,539 RGD:9068941
G Ckap2 cytoskeleton associated protein 2 JBrowse link NW_004955431 5,416,596 5,429,465 RGD:9068941
G Cln5 CLN5 intracellular trafficking protein JBrowse link NW_004955404 30,229,632 30,235,677 RGD:9068941
G Cnmd chondromodulin JBrowse link NW_004955404 50,864,017 50,889,249 RGD:9068941
G Commd6 COMM domain containing 6 JBrowse link NW_004955404 31,473,054 31,487,169 RGD:9068941
G Cysltr2 cysteinyl leukotriene receptor 2 JBrowse link NW_004955431 2,203,342 2,282,635 RGD:9068941
G Dach1 dachshund family transcription factor 1 JBrowse link NW_004955404 34,739,780 35,118,037 RGD:9068941
G Diaph3 diaphanous related formin 3 JBrowse link NW_004955404 44,653,308 45,106,943 RGD:9068941
G Dis3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease JBrowse link NW_004955404 33,897,681 33,924,069 RGD:9068941
G Dleu7 deleted in lymphocytic leukemia 7 JBrowse link NW_004955431 4,205,391 4,220,305 RGD:9068941
G Ebpl EBP like JBrowse link NW_004955431 3,114,160 3,122,448 RGD:9068941
G Ednrb endothelin receptor type B JBrowse link NW_004955404 29,394,253 29,425,358 RGD:9068941
G Fam124a family with sequence similarity 124 member A JBrowse link NW_004955431 4,585,518 4,633,567 RGD:9068941
G Fbxl3 F-box and leucine rich repeat protein 3 JBrowse link NW_004955404 30,215,140 30,229,798 RGD:9068941
G Fndc3a fibronectin type III domain containing 3A JBrowse link NW_004955431 2,553,311 2,696,596 RGD:9068941
G Ints6 integrator complex subunit 6 JBrowse link NW_004955431 4,728,011 4,810,236 RGD:9068941
G Itm2b integral membrane protein 2B JBrowse link NW_004955431 1,928,706 1,935,010 RGD:9068941
G Kcnrg potassium channel regulator JBrowse link NW_004955431 3,395,920 3,402,494 RGD:9068941
G Kctd12 potassium channel tetramerization domain containing 12 JBrowse link NW_004955404 30,325,019 30,330,953 RGD:9068941
G Klf12 Kruppel like factor 12 JBrowse link NW_004955404 32,715,636 33,127,525 RGD:9068941
G Klf5 Kruppel like factor 5 JBrowse link NW_004955404 33,642,604 33,665,445 RGD:9068941
G Klhl1 kelch like family member 1 JBrowse link NW_004955404 36,304,862 36,696,901 RGD:9068941
G Kpna3 karyopherin subunit alpha 3 JBrowse link NW_004955431 3,147,679 3,176,577 RGD:9068941
G Lmo7 LIM domain 7 JBrowse link NW_004955404 31,197,156 31,388,571 RGD:9068941
G Lpar6 lysophosphatidic acid receptor 6 JBrowse link NW_004955431 2,077,093 2,079,000 RGD:9068941
G Med4 mediator complex subunit 4 JBrowse link NW_004955431 1,794,863 1,812,641 RGD:9068941
G Mlnr motilin receptor JBrowse link NW_004955431 2,711,418 2,719,062 RGD:9068941
G Mycbp2 MYC binding protein 2 JBrowse link NW_004955404 29,932,125 30,186,236 RGD:9068941
G Mzt1 mitotic spindle organizing protein 1 JBrowse link NW_004955404 33,945,576 33,961,922 RGD:9068941
G Ndfip2 Nedd4 family interacting protein 2 JBrowse link NW_004955404 27,981,215 28,051,238 RGD:9068941
G Nek3 NIMA related kinase 3 JBrowse link NW_004955431 5,382,992 5,412,206 RGD:9068941
G Nek5 NIMA related kinase 5 JBrowse link NW_004955431 5,312,243 5,378,998 RGD:9068941
G Nudt15 nudix hydrolase 15 JBrowse link NW_004955431 1,767,971 1,775,555 RGD:9068941
G Obi1 ORC ubiquitin ligase 1 JBrowse link NW_004955404 28,759,640 28,803,257 RGD:9068941
G Olfm4 olfactomedin 4 JBrowse link NW_004955404 50,549,218 50,570,302 RGD:9068941
G Pcdh17 protocadherin 17 JBrowse link NW_004955404 46,795,303 46,886,918 RGD:9068941
G Pcdh20 protocadherin 20 JBrowse link NW_004955404 43,615,300 43,623,119 RGD:9068941
G Pcdh8 protocadherin 8 JBrowse link NW_004955404 50,403,752 50,413,264 RGD:9068941
G Pcdh9 protocadherin 9 JBrowse link NW_004955404 38,666,480 39,534,211 RGD:9068941
G Phf11 PHD finger protein 11 JBrowse link NW_004955431 2,945,119 2,974,767 RGD:9068941
G Pibf1 progesterone immunomodulatory binding factor 1 JBrowse link NW_004955404 33,713,903 33,897,622 RGD:9068941
G Pou4f1 POU class 4 homeobox 1 JBrowse link NW_004955404 28,812,762 28,818,024 RGD:9068941
G Rb1 RB transcriptional corepressor 1 JBrowse link NW_004955431 1,960,765 2,124,576 RGD:9068941
G Rbm26 RNA binding motif protein 26 JBrowse link NW_004955404 28,116,009 28,198,878 RGD:9068941
G Rcbtb1 RCC1 and BTB domain containing protein 1 JBrowse link NW_004955431 2,976,283 3,080,665 RGD:9068941
G Rcbtb2 RCC1 and BTB domain containing protein 2 JBrowse link NW_004955431 2,122,640 2,170,222 RGD:9068941
G Rnaseh2b ribonuclease H2 subunit B JBrowse link NW_004955431 4,291,687 4,368,169 RGD:9068941
G Scel sciellin JBrowse link NW_004955404 29,619,710 29,727,873 RGD:9068941
G Serpine3 serpin family E member 3 JBrowse link NW_004955431 4,694,654 4,727,080 RGD:9068941
G Setdb2 SET domain bifurcated histone lysine methyltransferase 2 JBrowse link NW_004955431 2,899,849 2,943,091 RGD:9068941
G Slain1 SLAIN motif family member 1 JBrowse link NW_004955404 29,537,497 29,594,617 RGD:9068941
G Slitrk1 SLIT and NTRK like family member 1 JBrowse link NW_004955404 24,436,394 24,439,749 RGD:9068941
G Slitrk6 SLIT and NTRK like family member 6 JBrowse link NW_004955404 22,738,080 22,744,601 RGD:9068941
G Spry2 sprouty RTK signaling antagonist 2 JBrowse link NW_004955404 27,349,286 27,353,706 RGD:9068941
G Spryd7 SPRY domain containing 7 JBrowse link NW_004955431 3,303,091 3,330,360 RGD:9068941
G Sucla2 succinate-CoA ligase ADP-forming beta subunit JBrowse link NW_004955431 1,678,720 1,737,234 RGD:9068941
G Sugt1 SGT1 homolog, MIS12 kinetochore complex assembly cochaperone JBrowse link NW_004955404 50,916,715 50,947,619 RGD:9068941
G Tbc1d4 TBC1 domain family member 4 JBrowse link NW_004955404 31,516,727 31,691,414 RGD:9068941
G Tdrd3 tudor domain containing 3 JBrowse link NW_004955404 44,329,159 44,457,958 RGD:9068941
G Thsd1 thrombospondin type 1 domain containing 1 JBrowse link NW_004955431 5,472,209 5,495,937 RGD:9068941
G Trim13 tripartite motif containing 13 JBrowse link NW_004955431 3,324,331 3,395,724 RGD:9068941
G Uchl3 ubiquitin C-terminal hydrolase L3 JBrowse link NW_004955404 31,414,076 31,465,205 RGD:9068941
G Vps36 vacuolar protein sorting 36 homolog JBrowse link NW_004955431 5,443,050 5,466,577 RGD:9068941
G Wdfy2 WD repeat and FYVE domain containing 2 JBrowse link NW_004955431 4,809,405 5,086,647 RGD:9068941
familial retinoblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rb1 RB transcriptional corepressor 1 JBrowse link NW_004955431 1,960,765 2,124,576 RGD:9068941
trilateral retinoblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rb1 RB transcriptional corepressor 1 JBrowse link NW_004955431 1,960,765 2,124,576 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11744
    disease of cellular proliferation 5113
      Neoplasms by Histologic Type 3292
        Glandular and Epithelial Neoplasms 2012
          astroblastoma 226
            retinoblastoma 92
              Retinoblastoma-Related Osteosarcoma 0
              bilateral retinoblastoma 0
              chromosome 13q14 deletion syndrome 71
              extraocular retinoblastoma + 0
              familial retinoblastoma 1
              intraocular retinoblastoma + 0
              trilateral retinoblastoma 1
              unilateral retinoblastoma 0
Path 2
Term Annotations click to browse term
  disease 11744
    disease of cellular proliferation 5113
      Neoplasms by Site 4566
        organ system cancer 3601
          nervous system cancer 1463
            central nervous system cancer 1190
              brain cancer 1178
                supratentorial cancer 940
                  cerebrum cancer 913
                    astrocytoma 911
                      astroblastoma 226
                        retinoblastoma 92
                          Retinoblastoma-Related Osteosarcoma 0
                          bilateral retinoblastoma 0
                          chromosome 13q14 deletion syndrome 71
                          extraocular retinoblastoma + 0
                          familial retinoblastoma 1
                          intraocular retinoblastoma + 0
                          trilateral retinoblastoma 1
                          unilateral retinoblastoma 0
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.