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ONTOLOGY REPORT - ANNOTATIONS


Term:Senior-Loken syndrome
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Accession:DOID:0050576 term browser browse the term
Definition:An autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO)
Synonyms:exact_synonym: Juvenile nephronophthisis with Leber amaurosis;   Renal Dysplasia And Retinal Aplasia;   Renal dysplasia retinal aplasia;   Renal-retinal syndrome;   Senior-Løken Syndrome
 primary_id: MESH:C537580
 alt_id: RDO:0003445
 xref: GARD:322;   OMIM:PS266900;   ORDO:3156
For additional species annotation, visit the Alliance of Genome Resources.


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Senior-Loken syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
RGD:13592920
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:8554872
RGD:13592920
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:8554872
RGD:11554173
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:8554872
RGD:13592920
G RGD1307947 similar to RIKEN cDNA C430008C19 JBrowse link 7 40,304,964 40,315,408 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:8554872
RGD:13592920
G Tmem218 transmembrane protein 218 JBrowse link 8 39,687,280 39,702,722 RGD:13592920
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:11552600
Senior-Loken Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp3 nephrocystin 3 JBrowse link 8 112,526,553 112,575,745 RGD:7240710
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nphp4 nephrocystin 4 JBrowse link 5 169,647,581 169,744,662 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Iqcb1 IQ motif containing B1 JBrowse link 11 66,824,059 66,878,585 RGD:7240710
RGD:8554872
RGD:11537383
Senior-Loken Syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Akt3 AKT serine/threonine kinase 3 JBrowse link 13 95,076,308 95,348,913 RGD:8554872
G Cep170 centrosomal protein 170 JBrowse link 13 94,807,090 94,887,448 RGD:8554872
G Pld5 phospholipase D family, member 5 JBrowse link 13 94,025,696 94,355,219 RGD:8554872
G Sdccag8 serologically defined colon cancer antigen 8 JBrowse link 13 94,888,046 95,100,833 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr19 WD repeat domain 19 JBrowse link 14 44,705,012 44,767,120 RGD:7240710
RGD:8554872
Senior-Loken Syndrome 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Traf3ip1 TRAF3 interacting protein 1 JBrowse link 9 98,621,499 98,658,223 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Senior-Loken syndrome 13
        Senior-Loken Syndrome 1 1
        Senior-Loken Syndrome 3 1
        Senior-Loken Syndrome 4 1
        Senior-Loken Syndrome 5 1
        Senior-Loken Syndrome 6 1
        Senior-Loken Syndrome 7 4
        Senior-Loken Syndrome 8 1
        Senior-Loken Syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              optic nerve disease 192
                optic atrophy 93
                  Hereditary Optic Atrophies 58
                    Senior-Loken syndrome 13
                      Senior-Loken Syndrome 1 1
                      Senior-Loken Syndrome 3 1
                      Senior-Loken Syndrome 4 1
                      Senior-Loken Syndrome 5 1
                      Senior-Loken Syndrome 6 1
                      Senior-Loken Syndrome 7 4
                      Senior-Loken Syndrome 8 1
                      Senior-Loken Syndrome 9 1
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.