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
Accession: DOID:0050576
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 .
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Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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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 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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Iqcb1
IQ motif containing B1
ISS ISO
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615 ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
MouseDO ClinVar
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 More...
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Nphp1
nephrocystin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis
CTD ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:17576681 PMID:17855640 PMID:23559409 PMID:24746959 PMID:25525159 PMID:25741868 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 More...
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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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 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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RGD1307947
similar to RIKEN cDNA C430008C19
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
PMID:25741868
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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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 chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Tmem218
transmembrane protein 218
ISS
OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615
MouseDO
NCBI chr 8:36,924,553...36,940,564
Ensembl chr 8:36,924,585...36,939,927
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Ttc21b
tetratricopeptide repeat domain 21B
ISO
ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia
ClinVar
PMID:18414213 PMID:21258341 PMID:24876116 PMID:25741868 PMID:26940125 PMID:28492532 PMID:29127259 PMID:33532864 More...
NCBI chr 3:50,861,367...50,935,782
Ensembl chr 3:50,861,367...50,935,903
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Wdr19
WD repeat domain 19
ISO
DNA:missense mutations, frameshift mutations, snp:multiple (human)
RGD
PMID:23683095
RGD:11552600
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Nphp1
nephrocystin 1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 1
OMIM ClinVar
PMID:8852662 PMID:9326933 PMID:9536098 PMID:9856524 PMID:10620543 PMID:10712196 PMID:10839884 PMID:15138899 PMID:16155189 PMID:16199547 PMID:17576681 PMID:17855640 PMID:23559409 PMID:24746959 PMID:25525159 PMID:25741868 PMID:27491411 PMID:27806791 PMID:28492532 PMID:28624958 More...
NCBI chr 3:114,960,650...115,016,234
Ensembl chr 3:114,960,650...115,016,234
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Nphp4
nephrocystin 4
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 4
OMIM ClinVar
PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 PMID:15776426 PMID:16339905 PMID:17558407 PMID:17576681 PMID:17855640 PMID:21068128 PMID:21546380 PMID:22550138 PMID:22773737 PMID:23167750 PMID:23188109 PMID:23559409 PMID:24033266 PMID:25445212 PMID:25472526 PMID:25741868 PMID:26346198 PMID:26920127 PMID:27004616 PMID:27491411 PMID:28492532 PMID:29127258 More...
NCBI chr 5:162,986,157...163,073,708
Ensembl chr 5:162,988,370...163,073,706
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Iqcb1
IQ motif containing B1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 5 DNA:frameshift mutations, nonsense mutations:exon:multiple
OMIM ClinVar RGD
PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 PMID:21866095 PMID:21901789 PMID:22183348 PMID:22261762 PMID:22773737 PMID:23188109 PMID:23446637 PMID:23559409 PMID:23847139 PMID:24033266 PMID:24066033 PMID:24625443 PMID:25741868 PMID:26673778 PMID:26766544 PMID:27624628 PMID:28041643 PMID:28492532 PMID:28559085 PMID:28832562 PMID:29053603 PMID:29068479 PMID:30718709 PMID:15723066 More...
RGD:11537383
NCBI chr11:63,905,595...63,960,141
Ensembl chr11:63,905,590...63,960,093
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 6
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17564967 PMID:17576681 PMID:17964524 PMID:18414213 PMID:20079931 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21602930 PMID:21866095 PMID:22355252 PMID:22693042 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23954617 PMID:24265693 PMID:25097241 PMID:25324289 PMID:25377065 PMID:25439097 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26092869 PMID:26467025 PMID:26477546 PMID:27353947 PMID:27375279 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:28912962 PMID:29398085 PMID:29482223 PMID:30718709 PMID:30776697 PMID:30902645 PMID:31091803 PMID:31624253 PMID:31734136 PMID:33546218 PMID:33726816 PMID:34196655 PMID:34795310 More...
NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
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RGD1307947
similar to RIKEN cDNA C430008C19
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 6
ClinVar
PMID:28492532
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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Adss
adenylosuccinate synthase
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,769,240...89,799,577
Ensembl chr13:89,769,244...89,799,604
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Akt3
AKT serine/threonine kinase 3
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:9536098 PMID:17576681 PMID:20835237 PMID:22190896 PMID:25640679 PMID:25741868 PMID:28492532 More...
NCBI chr13:88,943,708...89,225,831
Ensembl chr13:88,946,091...89,225,708
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Catspere
catsper channel auxiliary subunit epsilon
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,799,669...89,954,723
Ensembl chr13:89,819,244...89,950,979
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Cep170
centrosomal protein 170
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:20835237 PMID:22190896 PMID:28492532
NCBI chr13:88,669,672...88,754,011
Ensembl chr13:88,670,358...88,732,226
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Cox20
cytochrome c oxidase assembly factor COX20
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:90,065,900...90,075,386
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Desi2
desumoylating isopeptidase 2
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,961,767...90,011,255
Ensembl chr13:89,961,934...90,016,416
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Hnrnpu
heterogeneous nuclear ribonucleoprotein U
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:90,069,058...90,086,905
Ensembl chr13:90,074,181...90,086,588
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LOC689766
hypothetical protein LOC689766
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,740,464...89,771,505
Ensembl chr13:89,742,831...89,763,817
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Pld5
phospholipase D family, member 5
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:87,895,694...88,232,868
Ensembl chr13:87,896,369...88,232,868
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Sdccag8
SHH signaling and ciliogenesis regulator SDCCAG8
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20835237 PMID:21866095 PMID:22190896 PMID:22626039 PMID:23188109 PMID:23559409 PMID:25640679 PMID:25741868 PMID:28492532 PMID:32432520 More...
NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111
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Zbtb18
zinc finger and BTB domain containing 18
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 7
ClinVar
PMID:28492532
NCBI chr13:89,439,633...89,447,958
Ensembl chr13:89,439,420...89,448,862
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Wdr19
WD repeat domain 19
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 8
OMIM ClinVar
PMID:16199547 PMID:22019273 PMID:23559409 PMID:23683095 PMID:24027800 PMID:25726036 PMID:25741868 PMID:26260382 PMID:26275793 PMID:26489029 PMID:27241786 PMID:27596865 PMID:28492532 PMID:28621010 PMID:28973083 PMID:29068549 PMID:29801666 PMID:32165824 PMID:33532864 More...
NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288
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Traf3ip1
TRAF3 interacting protein 1
ISO
ClinVar Annotator: match by term: Senior-Loken syndrome 9
OMIM ClinVar
PMID:25741868 PMID:26487268 PMID:28492532
NCBI chr 9:92,073,622...92,110,427
Ensembl chr 9:92,073,640...92,108,977
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