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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Senior-Loken syndrome
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Accession:DOID:0050576 term browser browse the term
Definition:A syndrome 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: Renal Dysplasia And Retinal Aplasia;   Renal dysplasia retinal aplasia;   Renal-retinal syndrome;   Senior-Løken syndrome;   juvenile nephronophthisis with Leber amaurosis
 primary_id: MESH:C537580
 xref: GARD:322;   NCI:C168588;   OMIM:PS266900;   ORDO:3156
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Senior-Loken syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Cep290 centrosomal protein 290 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:25741868, PMID:28492532 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Iqcb1 IQ motif containing B1 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar Annotator: match by term: Senior Loken syndrome
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:15723066, PMID:20881296, PMID:21220633, PMID:21245082, PMID:21866095, PMID:23188109, PMID:23446637, PMID:23847139, PMID:24033266, PMID:24625443, PMID:25741868, PMID:28041643, PMID:28492532 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Loken-Senior syndrome
CTD
ClinVar
PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
G Nphp4 nephrocystin 4 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
PMID:28492532 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia ClinVar PMID:25741868 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO
ISS
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
ClinVar
MouseDO
NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
G Tmem218 transmembrane protein 218 ISS OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 MouseDO NCBI chr 8:39,687,280...39,702,722
Ensembl chr 8:39,687,269...39,702,902
JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Senior Loken syndrome ClinVar PMID:18414213, PMID:21258341, PMID:24876116, PMID:25741868, PMID:26940125, PMID:28492532 NCBI chr 3:52,286,794...52,361,060
Ensembl chr 3:52,286,794...52,361,060
JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutations, frameshift mutations, snp:multiple (human) RGD PMID:23683095 RGD:11552600 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Senior-Loken Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 1 OMIM
ClinVar
PMID:8852662, PMID:9326933, PMID:9856524, PMID:10712196, PMID:15138899, PMID:16155189, PMID:24746959, PMID:25741868, PMID:27491411, PMID:28492532, PMID:28624958, PMID:30311386 NCBI chr 3:120,316,048...120,370,089
Ensembl chr 3:120,316,047...120,373,500
JBrowse link
Senior-Loken Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp3 nephrocystin 3 ISO OMIM NCBI chr 8:112,526,553...112,575,745
Ensembl chr 8:112,526,553...112,575,745
JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
ClinVar Annotator: match by OMIM:606996
OMIM
ClinVar
PMID:1248184, PMID:6837691, PMID:11920287, PMID:12205563, PMID:15776426, PMID:17855640, PMID:21068128, PMID:21546380, PMID:22550138, PMID:22773737, PMID:23167750, PMID:23188109, PMID:24033266, PMID:25445212, PMID:25472526, PMID:25741868, PMID:26346198, PMID:26920127, PMID:27004616, PMID:28492532, PMID:29127258 NCBI chr 5:169,647,581...169,744,662
Ensembl chr 5:169,659,188...169,744,660
JBrowse link
Senior-Loken Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 5
DNA:frameshift mutations, nonsense mutations:exon:multiple
ClinVar Annotator: match by OMIM:609254
OMIM
ClinVar
PMID:15723066, PMID:18076122, PMID:20881296, PMID:21220633, PMID:21245082, PMID:21866095, PMID:22183348, PMID:22261762, PMID:22773737, PMID:23188109, PMID:23446637, PMID:23559409, PMID:23847139, PMID:24066033, PMID:24625443, PMID:25741868, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28832562, PMID:29053603, PMID:30718709, PMID:15723066 RGD:11537383 NCBI chr11:66,824,059...66,878,585
Ensembl chr11:66,824,065...66,878,551
JBrowse link
Senior-Loken Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by OMIM:610189
ClinVar Annotator: match by term: Senior-Loken syndrome 6
OMIM
ClinVar
PMID:16682970, PMID:16682973, PMID:16909394, PMID:17345604, PMID:17564967, PMID:17964524, PMID:18414213, PMID:20683928, PMID:20690115, PMID:21068128, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:22355252, PMID:22693042, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23591405, PMID:23954617, PMID:24265693, PMID:25097241, PMID:25741868, PMID:25818971, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26467025, PMID:26477546, PMID:27353947, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386, PMID:30718709 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G RGD1307947 similar to RIKEN cDNA C430008C19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 6 ClinVar PMID:28492532 NCBI chr 7:40,304,964...40,315,408
Ensembl chr 7:40,304,988...40,316,532
JBrowse link
Senior-Loken Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Cep170 centrosomal protein 170 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:94,807,090...94,887,448
Ensembl chr13:94,807,756...94,859,436
JBrowse link
G Pld5 phospholipase D family, member 5 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7 ClinVar PMID:28492532 NCBI chr13:94,025,696...94,355,219
Ensembl chr13:94,025,369...94,355,219
JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar Annotator: match by OMIM:613615
OMIM
ClinVar
PMID:20835237, PMID:21866095, PMID:22190896, PMID:22626039, PMID:23188109, PMID:25741868, PMID:28492532 NCBI chr13:94,888,046...95,100,833
Ensembl chr13:94,888,078...95,112,033
JBrowse link
Senior-Loken Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 8
ClinVar Annotator: match by term: Senior-loken syndrome 8
OMIM
ClinVar
PMID:22019273, PMID:23559409, PMID:23683095, PMID:25726036, PMID:25741868, PMID:26260382, PMID:26275793, PMID:27241786, PMID:27596865, PMID:28492532, PMID:28621010, PMID:28973083, PMID:29068549 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link
Senior-Loken Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip1 TRAF3 interacting protein 1 ISO ClinVar Annotator: match by term: Senior-loken syndrome 9 OMIM
ClinVar
PMID:26487268 NCBI chr 9:98,621,499...98,658,223
Ensembl chr 9:98,621,506...98,656,901
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Senior-Loken syndrome 14
        Senior-Loken Syndrome 1 1
        Senior-Loken Syndrome 3 1
        Senior-Loken Syndrome 4 1
        Senior-Loken Syndrome 5 1
        Senior-Loken Syndrome 6 2
        Senior-Loken Syndrome 7 4
        Senior-Loken Syndrome 8 1
        Senior-Loken Syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            cranial nerve disease 474
              optic nerve disease 241
                optic atrophy 132
                  Hereditary Optic Atrophies 63
                    Senior-Loken syndrome 14
                      Senior-Loken Syndrome 1 1
                      Senior-Loken Syndrome 3 1
                      Senior-Loken Syndrome 4 1
                      Senior-Loken Syndrome 5 1
                      Senior-Loken Syndrome 6 2
                      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.