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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:hypospadias
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Accession:DOID:10892 term browser browse the term
Definition:A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. (DO)
Synonyms:exact_synonym: familial hypospadias;   hypospadia
 primary_id: MESH:D007021
 xref: EFO:0004209;   ICD10CM:Q54;   MIM:PS300633;   NCI:C40341;   ORDO:440
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO mRNA:decreased expression:mucosa of urethra RGD PMID:15472213 PMID:23386417 RGD:1578685, RGD:11576230 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Atf3 activating transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18001166 NCBI chr13:105,274,103...105,331,653
Ensembl chr13:105,282,440...105,295,750 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 no_association ISO RGD PMID:15579657 PMID:21300689 RGD:11576312, RGD:11576313 NCBI chr 8:66,991,940...66,998,014
Ensembl chr 8:66,991,970...66,998,012 		JBrowse link
G Dgkk diacylglycerol kinase kappa ISO CTD Direct Evidence: marker/mechanism CTD PMID:21113153 PMID:27098078 NCBI chr  X:18,253,849...18,385,805
Ensembl chr  X:18,256,463...18,385,640 		JBrowse link
G Esr2 estrogen receptor 2 susceptibility ISO DNA:snps, repeat:promoter, 3' utr:rs2987983, rs10483774, g.dupCA (rs1256062) (human) RGD PMID:17579196 PMID:17579196 RGD:1626506, RGD:1626506 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Fgf10 fibroblast growth factor 10 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgf8 fibroblast growth factor 8 IEP RGD PMID:19464577 RGD:2314151 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 IEP mRNA:decreased expression:male genital tubercle (rat) RGD PMID:19464577 RGD:2314151 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit IEP protein:increased expression:genital tubercle RGD PMID:33618583 RGD:405650613 NCBI chr 6:110,852,188...110,855,054
Ensembl chr 6:110,852,190...110,855,598 		JBrowse link
G Fscn3 fascin actin-bundling protein 3 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr 4:58,008,124...58,017,674
Ensembl chr 4:58,008,230...58,017,673 		JBrowse link
G Gli3 GLI family zinc finger 3 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO DNA:deletion, haplotype: : (human) RGD PMID:21300689 RGD:11576313 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hhip Hedgehog-interacting protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:31568847 NCBI chr19:44,768,038...44,856,878
Ensembl chr19:44,767,536...44,862,795 		JBrowse link
G Hoxa13 homeo box A13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701 		JBrowse link
G Hoxd13 homeo box D13 IEP mRNA:decreased expression:male genital tubercle RGD PMID:27079746 RGD:12743602 NCBI chr 3:79,978,077...79,981,393
Ensembl chr 3:79,978,076...79,981,393 		JBrowse link
G Hsd3b1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 ISO DNA:point mutation:CDS:heterozygous S213T or S284R, result in decreased enzyme activity RGD PMID:14764821 RGD:1625114 NCBI chr 2:188,858,574...188,864,694 JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14764821 NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:188,784,614...188,790,569 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr15:2,688,535...2,861,443
Ensembl chr15:2,688,811...2,844,343 		JBrowse link
G Mir200c microRNA 200c IEP RNA:decreased expression:penis RGD PMID:27794206 RGD:597830139 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mir494 microRNA 494 ISO RNA:increased expression:urethra RGD PMID:32413360 RGD:156431051 NCBI chr 6:134,550,115...134,550,197
Ensembl chr 6:134,550,114...134,550,198 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO protein:decreased expression:urethra RGD PMID:32413360 RGD:156431051 NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:211,866,872...211,998,828
Ensembl chr 1:211,866,874...211,998,828 		JBrowse link
G Ppbp pro-platelet basic protein IEP protein:increased expression:blood RGD PMID:37059017 RGD:401795478 NCBI chr14:17,586,495...17,587,299
Ensembl chr14:17,586,495...17,587,299 		JBrowse link
G Smad3 SMAD family member 3 IEP mRNA,protein:increased expression:penis RGD PMID:27794206 RGD:597830139 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:73,024,760...73,132,324 		JBrowse link
G Snd1 staphylococcal nuclease and tudor domain containing 1 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr 4:58,060,689...58,459,926
Ensembl chr 4:58,060,640...58,459,925 		JBrowse link
G Srd5a2 steroid 5 alpha-reductase 2 susceptibility ISO protein:missense mutations:cds:p.R227Q, p.F186L (human) RGD PMID:10514539 RGD:1600059 NCBI chr 6:27,178,089...27,217,588
Ensembl chr 6:27,178,079...27,217,588 		JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr 1:162,545,660...162,565,456
Ensembl chr 1:162,545,680...162,564,660 		JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Hypospadias ClinVar PMID:25741868 NCBI chr18:26,411,833...26,417,426
Ensembl chr18:26,411,833...26,417,426 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 IEP mRNA,protein:increased expression:penis RGD PMID:27794206 RGD:597830139 NCBI chr17:56,644,397...56,811,155
Ensembl chr17:56,644,397...56,810,745 		JBrowse link
Anal Atresia, Hypospadias, and Penoscrotal Inversion term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc4 ATP binding cassette subfamily C member 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,948,387...102,182,912
Ensembl chr15:101,949,433...102,181,375 		JBrowse link
G Abhd13 abhydrolase domain containing 13 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:86,203,851...86,218,843
Ensembl chr16:86,201,794...86,290,906 		JBrowse link
G Ankrd10 ankyrin repeat domain 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,566,021...84,591,849
Ensembl chr16:84,568,506...84,591,846 		JBrowse link
G Arglu1 arginine and glutamate rich 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:87,455,097...87,479,148
Ensembl chr16:87,455,113...87,479,148 		JBrowse link
G Bivm basic, immunoglobulin-like variable motif containing ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,760,885...53,797,125
Ensembl chr 9:53,761,331...53,797,118 		JBrowse link
G Cars2 cysteinyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,649,617...84,689,254
Ensembl chr16:84,645,627...84,690,192 		JBrowse link
G Ccdc168 coiled-coil domain containing 168 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,690,704...53,728,801
Ensembl chr 9:53,690,786...53,727,639 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:102,269,858...102,361,589
Ensembl chr15:102,269,858...102,361,589 		JBrowse link
G Clybl citramalyl-CoA lyase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,690,283...105,912,347
Ensembl chr15:105,690,295...105,912,345 		JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,885,597...84,996,482
Ensembl chr16:84,885,597...84,996,482 		JBrowse link
G Col4a2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,749,672...84,885,520
Ensembl chr16:84,749,672...84,885,520 		JBrowse link
G Dct dopachrome tautomerase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,469,159...101,508,029
Ensembl chr15:101,469,159...101,508,029 		JBrowse link
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:102,432,667...102,475,643
Ensembl chr15:102,432,663...102,475,643 		JBrowse link
G Dock9 dedicator of cytokinesis 9 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,018,341...105,289,799
Ensembl chr15:105,024,912...105,289,799 		JBrowse link
G Dzip1 DAZ interacting zinc finger protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:102,363,392...102,417,085
Ensembl chr15:102,363,392...102,417,085 		JBrowse link
G Efnb2 ephrin B2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:87,485,215...87,529,224
Ensembl chr16:87,485,198...87,529,208 		JBrowse link
G Ercc5 ERCC excision repair 5, endonuclease ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,801,471...53,846,611
Ensembl chr 9:53,801,714...53,875,084 		JBrowse link
G Farp1 FERM, ARH/RhoGEF and pleckstrin domain protein 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:104,531,196...104,770,148
Ensembl chr15:104,531,813...104,770,147 		JBrowse link
G Fgf14 fibroblast growth factor 14 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:107,442,800...108,086,486
Ensembl chr15:107,451,634...108,085,808 		JBrowse link
G Ggact gamma-glutamylamine cyclotransferase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:106,375,924...106,406,649
Ensembl chr15:106,366,120...106,404,004 		JBrowse link
G Gpc6 glypican 6 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:100,437,415...101,435,038
Ensembl chr15:100,437,943...101,435,027 		JBrowse link
G Gpr18 G protein-coupled receptor 18 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,404,062...105,407,812
Ensembl chr15:105,404,077...105,408,836 		JBrowse link
G Gpr180 G protein-coupled receptor 180 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,602,870...101,635,556
Ensembl chr15:101,603,259...101,635,556 		JBrowse link
G Gpr183 G protein-coupled receptor 183 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,445,129...105,457,192
Ensembl chr15:105,437,561...105,466,977 		JBrowse link
G Hs6st3 heparan sulfate 6-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:102,688,420...103,407,725
Ensembl chr15:102,688,365...103,408,384 		JBrowse link
G Ing1 inhibitor of growth family, member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,639,378...84,649,498
Ensembl chr16:84,639,381...84,647,616 		JBrowse link
G Ipo5 importin 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:104,397,626...104,447,985
Ensembl chr15:104,397,276...104,447,985 		JBrowse link
G Irs2 insulin receptor substrate 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:85,190,310...85,214,543
Ensembl chr16:85,190,111...85,214,543 		JBrowse link
G Itgbl1 integrin subunit beta like 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:107,186,792...107,448,335
Ensembl chr15:107,186,689...107,451,098 		JBrowse link
G Lig4 DNA ligase 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:86,220,345...86,228,930
Ensembl chr16:86,220,279...86,229,926 		JBrowse link
G Mbnl2 muscleblind-like splicing regulator 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:103,792,134...103,949,827
Ensembl chr15:103,792,152...103,949,827 		JBrowse link
G Mettl21c methyltransferase 21C, AARS1 lysine ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,625,473...53,637,220
Ensembl chr 9:53,626,093...53,637,204 		JBrowse link
G Myo16 myosin XVI ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:85,586,428...86,066,537
Ensembl chr16:85,586,429...85,973,879 		JBrowse link
G Nalcn sodium leak channel, non-selective ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:106,805,209...107,148,837
Ensembl chr15:106,805,209...107,147,858 		JBrowse link
G Nalf1 NALCN channel auxiliary factor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:86,415,540...86,938,150
Ensembl chr16:86,415,488...86,938,150 		JBrowse link
G Naxd NAD(P)HX dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,689,776...84,706,256
Ensembl chr16:84,688,243...84,706,411 		JBrowse link
G Oxgr1 oxoglutarate receptor 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:103,551,338...103,573,611
Ensembl chr15:103,552,861...103,553,874 		JBrowse link
G Pcca propionyl-CoA carboxylase subunit alpha ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:106,034,586...106,374,908
Ensembl chr15:106,034,610...106,374,908 		JBrowse link
G Poglut2 protein O-glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,748,484...53,801,453
Ensembl chr 9:53,740,998...53,760,588 		JBrowse link
G Rab20 RAB20, member RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:84,721,427...84,745,610
Ensembl chr16:84,721,427...84,745,610 		JBrowse link
G Rap2a RAP2A, member of RAS oncogene family ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:104,003,744...104,004,234 JBrowse link
G Slc10a2 solute carrier family 10 member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:91,088,089...91,111,025
Ensembl chr16:91,076,423...91,111,025 		JBrowse link
G Slc15a1 solute carrier family 15 member 1 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:104,944,461...104,991,316
Ensembl chr15:104,944,463...104,989,369 		JBrowse link
G Sox21 SRY-box transcription factor 21 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,699,580...101,703,175
Ensembl chr15:101,674,512...101,819,980 		JBrowse link
G Stk24 serine/threonine kinase 24 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:104,770,556...104,866,524
Ensembl chr15:104,773,569...104,865,975 		JBrowse link
G Tex30 testis expressed 30 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,735,512...53,744,672
Ensembl chr 9:53,735,512...53,741,042 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:101,581,765...101,602,779
Ensembl chr15:101,582,227...101,602,718 		JBrowse link
G Tm9sf2 transmembrane 9 superfamily member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,606,082...105,660,715
Ensembl chr15:105,606,118...105,660,714 		JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:106,406,795...106,463,226
Ensembl chr15:106,407,597...106,463,210 		JBrowse link
G Tnfsf13b TNF superfamily member 13b ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr16:86,164,377...86,195,072
Ensembl chr16:86,164,377...86,194,499 		JBrowse link
G Tpp2 tripeptidyl peptidase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr 9:53,538,788...53,620,253
Ensembl chr 9:53,538,313...53,620,251 		JBrowse link
G Ubac2 UBA domain containing 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,366,776...105,514,435
Ensembl chr15:105,366,697...105,514,444 		JBrowse link
G Uggt2 UDP-glucose glycoprotein glucosyltransferase 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:102,480,239...102,646,291
Ensembl chr15:102,480,781...102,646,410 		JBrowse link
G Zic2 Zic family member 2 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,982,711...105,988,167
Ensembl chr15:105,983,342...105,988,167 		JBrowse link
G Zic5 Zic family member 5 ISO ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion ClinVar PMID:31690835 NCBI chr15:105,964,932...105,973,669
Ensembl chr15:105,964,932...105,973,669 		JBrowse link
Guttmacher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa13 homeo box A13 ISO ClinVar Annotator: match by term: Guttmacher syndrome | ClinVar Annotator: match by term: HOXA13-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:24239177 PMID:25741868 PMID:28492532 NCBI chr 4:82,689,566...82,691,701
Ensembl chr 4:82,689,566...82,691,701 		JBrowse link
Hypospadias 1, X-Linked term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypospadias 1, X-linked 		CTD
ClinVar
OMIM		 PMID:2594783 PMID:7981687 PMID:8033918 PMID:8097257 PMID:8683794 More... NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:67,135,317...67,304,467 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: Hypospadias 1, X-linked ClinVar NCBI chr 2:188,784,614...188,812,535
Ensembl chr 2:188,784,614...188,790,569 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO
ISS 		ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM:300000
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:27,678,248...28,053,049
Ensembl chr  X:27,681,867...27,906,105 		JBrowse link
Pseudovaginal Perineoscrotal Hypospadias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:431680 PMID:755047 PMID:835597 PMID:1147889 PMID:1406794 More... NCBI chr 6:27,178,089...27,217,588
Ensembl chr 6:27,178,079...27,217,588 		JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency ClinVar PMID:18384427 PMID:28492532 NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:27,282,057...27,344,350 		JBrowse link
scalp-ear-nipple syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kctd1 potassium channel tetramerization domain containing 1 ISO
ISS 		ClinVar Annotator: match by term: KCTD1-related condition | ClinVar Annotator: match by term: Scalp-ear-nipple syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
MouseDO		 PMID:1799422 PMID:8042668 PMID:9383029 PMID:9536098 PMID:10517259 More... NCBI chr18:6,396,947...6,591,026
Ensembl chr18:6,396,947...6,515,191 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      hypospadias 88
        Anal Atresia, Hypospadias, and Penoscrotal Inversion 55
        Guttmacher syndrome 1
        Hypospadias 1, X-Linked 2
        Hypospadias 2, X-Linked 0
        Hypospadias 3, Autosomal 0
        Hypospadias 4 0
        Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
        Hypospadias-Mental Retardation Syndrome 0
        Naguib-Richieri-Costa Syndrome 0
        Opitz GBBB syndrome 1
        Pseudovaginal Perineoscrotal Hypospadias 2
        Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 0
        Radius Absent Anogenital Anomalies 0
        Schilbach-Rott Syndrome 0
        Stratton-Parker Syndrome 0
        scalp-ear-nipple syndrome 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Urogenital Diseases 5238
        reproductive system disease 3200
          male reproductive system disease 2053
            penile disease 132
              hypospadias 88
                Anal Atresia, Hypospadias, and Penoscrotal Inversion 55
                Guttmacher syndrome 1
                Hypospadias 1, X-Linked 2
                Hypospadias 2, X-Linked 0
                Hypospadias 3, Autosomal 0
                Hypospadias 4 0
                Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                Hypospadias-Mental Retardation Syndrome 0
                Naguib-Richieri-Costa Syndrome 0
                Opitz GBBB syndrome 1
                Pseudovaginal Perineoscrotal Hypospadias 2
                Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 0
                Radius Absent Anogenital Anomalies 0
                Schilbach-Rott Syndrome 0
                Stratton-Parker Syndrome 0
                scalp-ear-nipple syndrome 1
paths to the root