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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:hydronephrosis
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Accession:DOID:11111 term browser browse the term
Definition:An urinary system disease that is characterized by swelling of one or both kidneys due to incomplete voiding of urine. (DO)
Synonyms:exact_synonym: hydronephroses
 xref: EFO:0005562;   ICD10CM:N13.30;   ICD9CM:591;   MESH:D006869;   MONDO:0005510;   NCI:C26796
For additional species annotation, visit the Alliance of Genome Resources.



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hydronephrosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen treatment ISO RGD PMID:12399452 PMID:12399452 RGD:1300273, RGD:1300273 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Aqp2 aquaporin 2 ISO DNA:mutation:exon:g.767C>T(mouse) RGD PMID:16641094 RGD:2314310 NCBI chr 7:132,590,286...132,595,321
Ensembl chr 7:130,711,413...130,716,468
JBrowse link
G Egr1 early growth response 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25015655 NCBI chr18:26,737,078...26,740,877
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Fbn1 fibrillin 1 ISO associated with Ureteral Obstruction; protein:altered expression:kidney (mouse) RGD PMID:15277214 RGD:7387264 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:112,554,925...112,750,889
JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Hydronephrosis ClinVar PMID:28492532 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO protein:increased expression:urine: RGD PMID:21279810 RGD:7245985 NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Idh2 isocitrate dehydrogenase (NADP(+)) 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27469509 NCBI chr 1:143,447,925...143,467,248
Ensembl chr 1:134,029,772...134,058,025
JBrowse link
G Il1b interleukin 1 beta IEP protein:increased expression:renal inner medulla, urine (rat) RGD PMID:22150692 RGD:7175264 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Lcn2 lipocalin 2 ISO protein:increased expression:urine: RGD PMID:21279810 RGD:7245985 NCBI chr 3:36,078,432...36,081,851
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Pdcd1 programmed cell death 1 ISO RGD PMID:16352741 RGD:7248681 NCBI chr 9:101,866,124...101,879,278
Ensembl chr 9:94,418,791...94,431,937
JBrowse link
G Ptger1 prostaglandin E receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30641090 NCBI chr19:41,374,983...41,379,593
Ensembl chr19:24,467,532...24,473,559
JBrowse link
G Ptges prostaglandin E synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22430074 PMID:25015655 NCBI chr 3:34,575,643...34,586,987 JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22430074 NCBI chr13:64,714,063...64,722,320
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Slc34a1 solute carrier family 34 member 1 ISO DNA:missense mutations:exon:p.A499V, p.V528M (mouse) RGD PMID:18550648 RGD:7243122 NCBI chr17:9,224,010...9,238,983
Ensembl chr17:9,218,876...9,233,852
JBrowse link
G Tbx4 T-box transcription factor 4 ISO ClinVar Annotator: match by term: Hydronephrosis ClinVar PMID:25741868 PMID:31965066 NCBI chr10:71,228,145...71,258,222
Ensembl chr10:70,731,163...70,760,825
JBrowse link
G Tbxas1 thromboxane A synthase 1 IEP mRNA:increased expression:kidney RGD PMID:9261862 RGD:634088 NCBI chr 4:68,631,841...68,803,959
Ensembl chr 4:67,665,007...67,837,096
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Hydronephrosis ClinVar PMID:25741868 PMID:28492532 PMID:30755392 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome OMIM
ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,262,998...6,274,997
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Okamoto syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:146,772,468...146,779,377
JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Tbx18 T-box transcription factor 18 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction | ClinVar Annotator: match by term: TBX18-related condition
OMIM
CTD
ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 8:97,531,960...97,559,988
Ensembl chr 8:88,652,054...88,680,058
JBrowse link
G Timp1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:3,766,509...3,772,578
Ensembl chr  X:1,212,972...1,217,664
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Urogenital Diseases 5391
        urinary system disease 2832
          kidney disease 2580
            hydronephrosis 37
              Au-Kline Syndrome 5
              CAKUT2 4
              Multiple Noduli Cutanei with Urinary Tract Abnormalities 0
              Pyonephrosis 0
              Urethral Obstruction Sequence 0
paths to the root