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
Accession: DOID:11111
browse the term
Definition: Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Synonyms: exact_synonym: Hydronephroses
primary_id: MESH:D006869 ; RDO:0002077
xref: ICD10CM:N13.30 ; ICD9CM:591 ; NCI:C26796
For additional species annotation, visit the
Alliance of Genome Resources .
G
Agt
angiotensinogen
treatment
ISO
RGD
PMID:12399452 , PMID:12399452
RGD:1300273 , RGD:1300273
NCBI chr19:57,321,594...57,333,460
Ensembl chr19:57,321,640...57,333,433
G
Aqp2
aquaporin 2
ISO
DNA:mutation:exon:g.767C>T(mouse)
RGD
PMID:16641094
RGD:2314310
NCBI chr 7:141,237,802...141,242,837
Ensembl chr 7:141,237,768...141,245,165
G
Egr1
early growth response 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25015655
NCBI chr18:27,657,903...27,660,101
Ensembl chr18:27,657,628...27,661,429
G
Fbn1
fibrillin 1
ISO
associated with Ureteral Obstruction; protein:altered expression:kidney (mouse)
RGD
PMID:15277214
RGD:7387264
NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
G
Flna
filamin A
ISO
ClinVar Annotator: match by term: Hydronephrosis
ClinVar
PMID:28492532
NCBI chr X:156,460,785...156,487,245
Ensembl chr X:156,463,953...156,487,245
G
Havcr1
hepatitis A virus cellular receptor 1
ISO
protein:increased expression:urine:
RGD
PMID:21279810
RGD:7245985
NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
G
Idh2
isocitrate dehydrogenase (NADP(+)) 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27469509
NCBI chr 1:141,874,354...141,893,674
Ensembl chr 1:141,866,283...141,893,705
G
Il1b
interleukin 1 beta
IEP
protein:increased expression:renal inner medulla, urine (rat)
RGD
PMID:22150692
RGD:7175264
NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
G
Lcn2
lipocalin 2
ISO
protein:increased expression:urine:
RGD
PMID:21279810
RGD:7245985
NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
G
Pdcd1
programmed cell death 1
ISO
RGD
PMID:16352741
RGD:7248681
NCBI chr 9:101,305,742...101,319,937
Ensembl chr 9:101,307,764...101,319,845
G
Ptger1
prostaglandin E receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:30641090
NCBI chr19:24,799,422...24,803,373
Ensembl chr19:24,800,072...24,803,373
G
Ptges
prostaglandin E synthase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22430074 PMID:25015655
NCBI chr 3:9,727,408...9,738,752
Ensembl chr 3:9,727,408...9,738,752
G
Ptgs2
prostaglandin-endoperoxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22430074
NCBI chr13:67,351,230...67,356,920
Ensembl chr13:67,351,087...67,359,335
G
Slc34a1
solute carrier family 34 member 1
ISO
DNA:missense mutations:exon:p.A499V, p.V528M (mouse)
RGD
PMID:18550648
RGD:7243122
NCBI chr17:9,747,766...9,762,739
Ensembl chr17:9,747,752...9,762,813
G
Tbx4
T-box transcription factor 4
ISO
ClinVar Annotator: match by term: Hydronephrosis
ClinVar
PMID:25741868 PMID:31965066
NCBI chr10:73,331,864...73,362,784
Ensembl chr10:73,333,119...73,362,783
G
Tbxas1
thromboxane A synthase 1
IEP
mRNA:increased expression:kidney
RGD
PMID:9261862
RGD:634088
NCBI chr 4:66,624,181...66,846,745
Ensembl chr 4:66,670,618...66,846,805
G
Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Hydronephrosis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
G
Mmp9
matrix metallopeptidase 9
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
G
Tbx18
T-box transcription factor 18
ISO
ClinVar Annotator: match by term: Multicystic renal dysplasia, bilateral
ClinVar OMIM
PMID:26235987
NCBI chr 8:95,359,354...95,387,363
Ensembl chr 8:95,359,354...95,387,363
G
Timp1
TIMP metallopeptidase inhibitor 1
treatment
ISO
RGD
PMID:27448803
RGD:13204792
NCBI chr X:1,364,771...1,369,451
Ensembl chr X:1,364,786...1,369,384
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