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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:ureteral obstruction
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Accession:DOID:5199 term browser browse the term
Definition:Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy.
Synonyms:exact_synonym: Ureteral Obstructions
 primary_id: MESH:D014517;   RDO:0003206
 xref: ICD9CM:593.4
For additional species annotation, visit the Alliance of Genome Resources.



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ureteral obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase ISO protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr 9:101,834,189...102,005,811
Ensembl chr 9:130,484,333...130,652,941
JBrowse link
G ACE angiotensin I converting enzyme treatment ISO RGD PMID:21667191 RGD:12880020 NCBI chr17:57,556,294...57,577,294
Ensembl chr17:62,702,341...62,733,853
JBrowse link
G ACTA2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr10:85,660,983...85,678,729
Ensembl chr10:89,164,344...89,182,080
JBrowse link
G ADAM10 ADAM metallopeptidase domain 10 ISO RGD PMID:24103556 RGD:13703030 NCBI chr15:37,562,930...37,717,175
Ensembl chr15:55,873,606...56,027,188
JBrowse link
G ADAM12 ADAM metallopeptidase domain 12 ISO RGD PMID:24103556 RGD:13703030 NCBI chr10:122,583,989...122,958,895
Ensembl chr10:126,852,441...127,165,048
JBrowse link
G ADAM17 ADAM metallopeptidase domain 17 ISO RGD PMID:24103556 RGD:13703030 NCBI chr2A:9,478,080...9,545,363
Ensembl chr2A:9,641,201...9,708,054
JBrowse link
G ADAM19 ADAM metallopeptidase domain 19 ISO RGD PMID:24103556 RGD:13703030 NCBI chr 5:152,839,326...152,972,741
Ensembl chr 5:159,494,786...159,593,171
JBrowse link
G ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif 1 ISO RGD PMID:17583485 RGD:9681748 NCBI chr21:13,270,668...13,279,217
Ensembl chr21:26,656,370...26,665,485
JBrowse link
G ADCY6 adenylate cyclase 6 ISO RGD PMID:18971210 RGD:2312654 NCBI chr12:39,957,394...39,981,049
Ensembl chr12:40,836,922...40,859,131
JBrowse link
G ADM adrenomedullin ISO mRNA, protein:increased expression:kidney RGD PMID:18945953 RGD:2325637 NCBI chr11:10,437,712...10,440,053
Ensembl chr11:10,165,418...10,167,842
JBrowse link
G AGER advanced glycosylation end-product specific receptor ISO RGD PMID:23677242 RGD:7243949 NCBI chr 6:31,828,363...31,831,981
Ensembl chr 6:32,708,251...32,711,641
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AKT1 AKT serine/threonine kinase 1 ISO RGD PMID:22085202 RGD:10041001 NCBI chr14:85,417,229...85,444,722
Ensembl chr14:105,208,128...105,236,756
JBrowse link
G ARG1 arginase 1 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr 6:129,372,747...129,383,880
Ensembl chr 6:133,479,966...133,491,162
JBrowse link
G ARG2 arginase 2 ISO mRNA, protein:increased expression:kidney, glomerulus (rat) RGD PMID:18552509 RGD:4143282 NCBI chr14:48,197,831...48,231,829
Ensembl chr14:67,075,941...67,109,962
JBrowse link
G AVPR2 arginine vasopressin receptor 2 ISO RGD PMID:18971210 RGD:2312654 NCBI chr  X:143,458,693...143,461,945
Ensembl chr  X:153,346,466...153,348,840
JBrowse link
G B2M beta-2-microglobulin ISO protein:increased expression:serum RGD PMID:19536607 RGD:6482685 NCBI chr15:23,668,108...23,674,791
Ensembl chr15:41,836,345...41,842,991
JBrowse link
G BECN1 beclin 1 ISO protein:increased expression:cortex of kidney RGD PMID:23314838 RGD:11561927 NCBI chr17:14,493,619...14,507,809
Ensembl chr17:14,719,781...14,733,286
JBrowse link
G CASP3 caspase 3 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 4:176,793,190...176,815,023
Ensembl chr 4:189,018,422...189,040,185
JBrowse link
G CASP7 caspase 7 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr10:110,273,318...110,324,800
Ensembl chr10:113,707,780...113,758,626
JBrowse link
G CASP9 caspase 9 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 1:14,630,659...14,662,865
Ensembl chr 1:15,624,666...15,656,266
JBrowse link
G CAT catalase ISO protein:decreased expression:kidney RGD PMID:21305585 RGD:5130876 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160
JBrowse link
G CCL2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr17:22,528,154...22,530,091
Ensembl chr17:22,820,890...22,823,384
JBrowse link
G CCL20 C-C motif chemokine ligand 20 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr2B:115,052,768...115,056,479
Ensembl chr2B:233,862,505...233,866,225
JBrowse link
G CCN2 cellular communication network factor 2 ISO mRNA:increased expression:kidney (rat) RGD PMID:18987110 RGD:2314607 NCBI chr 6:129,729,572...129,733,113
Ensembl chr 6:133,836,319...133,842,077
JBrowse link
G CD14 CD14 molecule ISO mRNA,protein:increased expression:kidney RGD PMID:10966493 RGD:7204444 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966
JBrowse link
G CDH1 cadherin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:31697999 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
JBrowse link
G CFL1 cofilin 1 ISO protein:increased expression:inner medulla of kidney (rat) RGD PMID:24761003 RGD:11570413 NCBI chr11:61,215,092...61,218,628
Ensembl chr11:64,544,275...64,550,806
JBrowse link
G CLTRN collectrin, amino acid transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12887829 NCBI chr  X:8,255,666...8,293,354
Ensembl chr  X:15,535,069...15,575,268
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO mRNA:increased expression:kidney RGD PMID:20660018 RGD:5688341 NCBI chr 7:86,344,657...86,381,282
Ensembl chr 7:99,935,185...99,971,803
JBrowse link
G COL3A1 collagen type III alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr2B:76,285,115...76,322,703
Ensembl chr2B:194,204,613...194,242,956
JBrowse link
G CSF1 colony stimulating factor 1 ISO mRNA:increased expression:kidney RGD PMID:16951369 PMID:23628901 RGD:7257564 RGD:7257574 NCBI chr 1:112,555,755...112,575,894
Ensembl chr 1:127,764,916...127,781,943
JBrowse link
G CSF1R colony stimulating factor 1 receptor ISO protein:increased expression:kidney, macrophage RGD PMID:16951369 RGD:7257574 NCBI chr 5:145,478,725...145,537,858
Ensembl chr 5:151,483,572...151,517,415
JBrowse link
G CYP2J2 cytochrome P450 family 2 subfamily J member 2 ISO RGD PMID:25840911 RGD:12904676 NCBI chr 1:59,151,079...59,184,625
Ensembl chr 1:60,856,269...60,889,810
JBrowse link
G DDIT3 DNA damage inducible transcript 3 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr12:31,406,332...31,410,293
Ensembl chr12:31,664,743...31,668,701
JBrowse link
G DRD1 dopamine receptor D1 ISO protein:decreased expression:kidney (rat) RGD PMID:14612384 RGD:7248457 NCBI chr 5:170,787,115...170,792,383
Ensembl chr 5:177,688,917...177,690,257
JBrowse link
G EDN1 endothelin 1 ISO mRNA, protein:increased expression:renal tubule, renal interstitium (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12887768 PMID:26207612 RGD:8662268 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545
JBrowse link
G FBN1 fibrillin 1 treatment ISO protein:increased expression:kidney (mouse) RGD PMID:17200203 RGD:7365047 NCBI chr15:27,358,780...27,593,539
Ensembl chr15:45,682,450...45,918,111
JBrowse link
G FN1 fibronectin 1 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:12218318 PMID:28318631 RGD:7205473 NCBI chr2B:102,623,568...102,698,747
Ensembl chr2B:221,208,431...221,284,003
JBrowse link
G GFER growth factor, augmenter of liver regeneration ISO RGD PMID:24844766 RGD:13506791 NCBI chr16:716,640...720,196
Ensembl chr16:2,073,064...2,076,592
JBrowse link
G GJA4 gap junction protein alpha 4 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr 1:34,059,901...34,063,181 JBrowse link
G GJA5 gap junction protein alpha 5 ISO mRNA:increased expression:kidney RGD PMID:12644912 RGD:7207847 NCBI chr 1:123,200,111...123,224,626
Ensembl chr 1:112,328,337...112,329,413
JBrowse link
G GJB6 gap junction protein beta 6 ISO mRNA:increased expression:kidney: RGD PMID:12644912 RGD:7207847 NCBI chr13:1,549,089...1,559,452
Ensembl chr13:19,864,939...19,865,724
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO mRNA:increased expression:kidney tubule: RGD PMID:22257277 RGD:7245953 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481
JBrowse link
G HES1 hes family bHLH transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 3:191,432,513...191,435,387
Ensembl chr 3:201,749,044...201,754,257
JBrowse link
G HEY1 hes related family bHLH transcription factor with YRPW motif 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 8:76,286,433...76,290,507
Ensembl chr 8:77,913,761...77,921,201
JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 6:123,527,180...123,538,794
Ensembl chr 6:127,647,547...127,659,056
JBrowse link
G HIPK2 homeodomain interacting protein kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr 7:131,506,711...131,722,943 JBrowse link
G HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 ISO protein:decreased expression:kidney RGD PMID:17475897 RGD:2308940 NCBI chr16:47,776,118...47,782,861
Ensembl chr16:67,165,215...67,171,417
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 treatment ISO RGD PMID:25707520 RGD:13782175 NCBI chr 9:96,351,645...96,356,761
Ensembl chr 9:124,865,211...124,870,458
JBrowse link
G ICAM1 intercellular adhesion molecule 1 ISO protein:increased expression:renal endothelium, epithelium, interstitium RGD PMID:10930117 RGD:11522713 NCBI chr19:9,821,402...9,837,021
Ensembl chr19:10,484,414...10,500,605
JBrowse link
G IFNG interferon gamma ISO RGD PMID:21216449 RGD:6893456 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829
JBrowse link
G IL1B interleukin 1 beta ISO mRNA, protein:increased expression:kidney (mouse) RGD PMID:21370451 PMID:22048127 RGD:7175301 RGD:7175323 NCBI chr2A:89,216,313...89,223,358
Ensembl chr2A:113,846,306...113,853,424
JBrowse link
G IL1RN interleukin 1 receptor antagonist ISO mouse model treated with human protein RGD PMID:11123344 PMID:21975862 RGD:6906925 RGD:6909121 NCBI chr2A:88,991,646...89,008,013
Ensembl chr2A:114,061,182...114,078,839
JBrowse link
G IRF1 interferon regulatory factor 1 ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr 5:127,903,887...127,913,843
Ensembl chr 5:134,067,441...134,075,035
JBrowse link
G IRF5 interferon regulatory factor 5 treatment ISO RGD PMID:31177020 RGD:40924651 NCBI chr 7:120,889,752...120,902,096
Ensembl chr 7:133,415,170...133,426,356
JBrowse link
G KEAP1 kelch like ECH associated protein 1 ISO protein:altered expression:kidney cortex (rat) RGD PMID:20734248 RGD:5133246 NCBI chr19:10,037,544...10,055,091
Ensembl chr19:10,701,303...10,717,604
JBrowse link
G LOC100980531 eotaxin ISO RGD PMID:15673311 RGD:7248411 NCBI chr17:22,495,737...22,515,144
Ensembl chr17:22,806,076...22,808,345
Ensembl chr17:22,806,076...22,808,345
JBrowse link
G LUM lumican ISO mRNA:increased expression:kidney RGD PMID:12787392 RGD:2317694 NCBI chr12:88,636,825...88,644,665
Ensembl chr12:91,952,277...91,960,388
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 treatment ISO RGD PMID:28063381 RGD:13800569 NCBI chr22:3,883,119...3,990,368
Ensembl chr22:20,365,487...20,450,335
JBrowse link
G MAPK3 mitogen-activated protein kinase 3 treatment ISO RGD PMID:28063381 RGD:13800569 Ensembl chr16:30,489,362...30,498,017 JBrowse link
G MMP7 matrix metallopeptidase 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr11:97,467,037...97,477,305
Ensembl chr11:100,960,032...100,971,099
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:22085202 RGD:10041001 NCBI chr 1:9,871,700...10,028,704
Ensembl chr 1:11,093,765...11,249,841
JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233
JBrowse link
G NPPA natriuretic peptide A ISO protein, mRNA:increased expression:plasma, kidney:
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:19223006 PMID:26207612 RGD:7247722 NCBI chr 1:10,608,025...10,610,287
Ensembl chr 1:11,825,072...11,827,373
JBrowse link
G NPPB natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: marker/mechanism CTD PMID:26207612 NCBI chr2B:119,148,774...119,153,381
Ensembl chr2B:237,936,939...237,941,244
JBrowse link
G NPR1 natriuretic peptide receptor 1 ISO RGD PMID:19223006 RGD:7247722 NCBI chr 1:129,034,972...129,050,439
Ensembl chr 1:132,664,948...132,679,327
JBrowse link
G NQO1 NAD(P)H quinone dehydrogenase 1 ISO mRNA:increased expression:kidney RGD PMID:20734248 RGD:5133246 NCBI chr16:50,090,696...50,106,495
Ensembl chr16:69,470,288...69,489,731
JBrowse link
G PAK2 p21 (RAC1) activated kinase 2 ISO protein:increased activity:kidney: RGD PMID:15629889 RGD:8693572 NCBI chr 3:194,084,037...194,174,010
Ensembl chr 3:204,023,357...204,111,507
JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 treatment ISO RGD PMID:29781318 RGD:13782341 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO mRNA:increased expression:kidney: RGD PMID:10644908 RGD:10449497 NCBI chr22:20,127,223...20,148,407
Ensembl chr22:37,944,018...37,964,883
JBrowse link
G POSTN periostin ISO mRNA,protein:increased expression:kidney: RGD PMID:22167593 RGD:10040972 NCBI chr13:18,779,297...18,815,207
Ensembl chr13:37,368,030...37,407,212
JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr11:61,012,839...61,022,225
Ensembl chr11:64,347,859...64,356,868
JBrowse link
G RELB RELB proto-oncogene, NF-kB subunit ISO protein:increased activity:kidney RGD PMID:9328931 RGD:7777163 NCBI chr19:41,948,559...41,987,121
Ensembl chr19:50,554,864...50,590,223
JBrowse link
G ROMO1 reactive oxygen species modulator 1 ISO mRNA,protein:increased expression:kidney RGD PMID:28791399 RGD:13463462 NCBI chr20:32,026,660...32,028,314
Ensembl chr20:33,148,002...33,149,345
JBrowse link
G SERPINE1 serpin family E member 1 treatment ISO mRNA:increased expression:kidney (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11832778 PMID:12365557 PMID:28318631 RGD:8547912 RGD:8547941 NCBI chr 7:93,267,517...93,279,728
Ensembl chr 7:106,510,130...106,518,450
JBrowse link
G SHH sonic hedgehog signaling molecule ISO mRNA, protein:increased expression:nephron tubule epithelium RGD PMID:22302193 RGD:12859047 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651
JBrowse link
G SKIL SKI like proto-oncogene ISO protein:decreased expression:kidney RGD PMID:19382458 RGD:2308888 NCBI chr 3:167,372,104...167,411,287
Ensembl chr 3:175,562,007...175,600,181
JBrowse link
G SMAD3 SMAD family member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr15:46,013,764...46,143,126
Ensembl chr15:64,284,949...64,414,185
JBrowse link
G SNAI1 snail family transcriptional repressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28318631 NCBI chr20:46,321,075...46,328,865
Ensembl chr20:47,384,818...47,390,733
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17164399 NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041
JBrowse link
G TNF tumor necrosis factor ISO RGD PMID:19541932 RGD:7245519 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO mRNA:increased expression:tibia RGD PMID:22943310 RGD:7205482 NCBI chr 8:115,614,778...115,643,387
Ensembl chr 8:118,134,305...118,162,422
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A ISO RGD PMID:19541932 RGD:7245519 NCBI chr12:6,457,617...6,470,969
Ensembl chr12:6,374,257...6,387,613
JBrowse link
G TNFRSF1B TNF receptor superfamily member 1B ISO RGD PMID:10564241 PMID:19541932 RGD:7245519 RGD:7245536 NCBI chr 1:10,915,743...10,957,765
Ensembl chr 1:12,130,663...12,172,646
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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129
JBrowse link
G TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction OMIM
ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr 6:82,621,987...82,654,137
Ensembl chr 6:85,862,810...85,938,799
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:40,018,190...40,022,636
Ensembl chr  X:47,914,906...47,919,419
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17943
    disease of anatomical entity 15180
      Urogenital Diseases 4677
        urinary system disease 2365
          urinary tract obstruction 128
            ureteral obstruction 93
              CAKUT2 4
paths to the root