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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;   SLSN1;   Senior-Loken Syndrome 1;   Senior-Løken Syndrome
 primary_id: MESH:C537580;   RDO:0003445
 alt_id: OMIM:266900
 xref: GARD:322;   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 Kcnab2 potassium voltage-gated channel subfamily A regulatory beta subunit 2 JBrowse link 5 169,570,327 169,658,875 RGD:8554872
G Nphp1 nephrocystin 1 JBrowse link 3 120,316,048 120,370,089 RGD:7240710
RGD:8554872
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 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 14759
    syndrome 4210
      Senior-Loken syndrome 11
        SENIOR-LOKEN SYNDROME 8 1
        SENIOR-LOKEN SYNDROME 9 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              optic nerve disease 183
                optic atrophy 86
                  Hereditary Optic Atrophies 57
                    Senior-Loken syndrome 11
                      SENIOR-LOKEN SYNDROME 8 1
                      SENIOR-LOKEN SYNDROME 9 1
paths to the root