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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:urethral disease
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Accession:DOID:732 term browser browse the term
Definition:A urinary system disease that is located_in the urethra. (DO)
Synonyms:exact_synonym: urethra disease;   urethral diseases
 primary_id: MESH:D014522
 xref: EFO:0009689;   ICD10CM:N36.9;   NCI:C26903
For additional species annotation, visit the Alliance of Genome Resources.

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show annotations for term's descendants           Sort by:
bladder exstrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar PMID:25741868 PMID:28492532 PMID:31044557 NCBI chr19:4,917,381...4,935,174
Ensembl chr19:4,918,360...4,933,439 		JBrowse link
G TP63 tumor protein p63 ISO OMIM:600057 MouseDO NCBI chr15:83,861,489...84,126,675 JBrowse link
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr14:37,849,911...38,116,339
Ensembl chr14:37,877,436...38,115,938 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr14:38,253,093...38,260,027
Ensembl chr14:38,253,890...38,259,621 		JBrowse link
G CCDC179 coiled-coil domain containing 179 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 1:42,154,649...42,166,121
Ensembl chr 1:42,155,114...42,157,632 		JBrowse link
G CELSR1 cadherin EGF LAG seven-pass G-type receptor 1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr19:28,842,332...29,030,672
Ensembl chr19:28,844,644...29,030,216 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr22:10,046,361...10,073,689
Ensembl chr22:10,045,900...10,072,395 		JBrowse link
G CYP4F22 cytochrome P450 family 4 subfamily F member 22 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:14,111,406...14,153,617
Ensembl chr 6:14,126,086...14,152,447 		JBrowse link
G EGFL6 EGF like domain multiple 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr  X:12,051,172...12,116,860
Ensembl chr  X:12,052,518...12,116,845 		JBrowse link
G EIF6 eukaryotic translation initiation factor 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr 2:56,185,419...56,190,993
Ensembl chr 2:56,184,679...56,191,012 		JBrowse link
G EPHA1 EPH receptor A1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr21:112,276,941...112,294,505
Ensembl chr21:112,277,427...112,294,424 		JBrowse link
G FANCE FA complementation group E ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr17:36,659,266...36,671,274 JBrowse link
G FLCN folliculin ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 PMID:28492532 NCBI chr16:16,245,840...16,271,465
Ensembl chr16:16,245,715...16,267,698 		JBrowse link
G FZD5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr10:93,545,792...93,553,092
Ensembl chr10:93,550,189...93,551,946 		JBrowse link
G HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr25:19,720,096...19,772,806
Ensembl chr25:19,719,848...19,750,200 		JBrowse link
G INTS2 integrator complex subunit 2 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr16:33,086,460...33,148,261
Ensembl chr16:33,086,467...33,148,084 		JBrowse link
G ISL1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552 		JBrowse link
G KDM5B lysine demethylase 5B ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr25:26,599,740...26,685,256
Ensembl chr25:26,600,736...26,683,632 		JBrowse link
G LMO7 LIM domain 7 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 3:54,647,783...54,954,970
Ensembl chr 3:54,736,294...54,957,721 		JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A3 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr16:59,592,891...59,634,813 JBrowse link
G LOC103247928 olfactory receptor 51A7 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 1:61,893,064...61,895,211 JBrowse link
G LRP10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr29:23,236,863...23,243,192
Ensembl chr29:23,236,539...23,242,638 		JBrowse link
G MMP26 matrix metallopeptidase 26 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 1:61,826,835...61,832,152
Ensembl chr 1:61,827,321...61,831,374 		JBrowse link
G PKD1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 PMID:26467025 NCBI chr 5:1,985,165...2,031,518
Ensembl chr 5:1,983,632...2,015,551 		JBrowse link
G RAB23 RAB23, member RAS oncogene family ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr17:14,383,064...14,418,144
Ensembl chr17:14,383,155...14,414,698 		JBrowse link
G RPL4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr26:17,046,189...17,051,427 JBrowse link
G SOX18 SRY-box transcription factor 18 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:195,418...197,221 JBrowse link
G SPINT3 serine peptidase inhibitor, Kunitz type 3 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 2:18,320,557...18,324,159
Ensembl chr 2:18,320,887...18,323,976 		JBrowse link
G TCHHL1 trichohyalin like 1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr20:11,562,589...11,568,863 JBrowse link
G TCP11L1 t-complex 11 like 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr 1:32,145,355...32,177,745
Ensembl chr 1:32,146,244...32,177,155 		JBrowse link
G TMEM120B transmembrane protein 120B ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr11:117,079,796...117,145,054
Ensembl chr11:117,079,844...117,144,534 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 PMID:28492532 NCBI chr15:83,861,489...84,126,675 JBrowse link
G TSHR thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr24:58,268,546...58,462,742
Ensembl chr24:58,384,224...58,460,432 		JBrowse link
G WDR81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr16:1,377,135...1,391,404
Ensembl chr16:1,377,669...1,391,404 		JBrowse link
G WIZ WIZ zinc finger ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 6:14,025,533...14,052,834 JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:22581971 PMID:23401279 PMID:24398796 PMID:25741868 PMID:28492532 More... NCBI chr10:104,781,705...104,795,500
Ensembl chr10:104,782,191...104,794,854 		JBrowse link
G WNT11 Wnt family member 11 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 1:67,393,975...67,427,247
Ensembl chr 1:67,399,074...67,418,509 		JBrowse link
G WNT6 Wnt family member 6 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr10:104,759,794...104,775,642
Ensembl chr10:104,760,045...104,774,487 		JBrowse link
G WNT7A Wnt family member 7A ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr22:49,805,415...49,863,115
Ensembl chr22:49,805,463...49,862,830 		JBrowse link
G ZNF280B zinc finger protein 280B ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr19:3,468,032...3,491,475
Ensembl chr19:3,484,232...3,485,863 		JBrowse link
bladder neck obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADRA1A adrenoceptor alpha 1A ISO RGD PMID:20886573 RGD:5688368 NCBI chr 8:24,884,187...24,985,824
Ensembl chr 8:24,885,741...24,983,125 		JBrowse link
G COL1A1 collagen type I alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr16:43,134,648...43,152,313
Ensembl chr16:43,134,779...43,150,930 		JBrowse link
G COL3A1 collagen type III alpha 1 chain treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr10:74,455,133...74,493,392 JBrowse link
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G ELN elastin treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr28:8,999,164...9,048,703 JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr24:38,873,830...38,927,657
Ensembl chr24:38,873,861...38,928,288 		JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432 		JBrowse link
G MMP7 matrix metallopeptidase 7 treatment ISO RGD PMID:23313213 RGD:7257549 NCBI chr 1:93,889,189...93,901,077
Ensembl chr 1:93,889,198...93,899,587 		JBrowse link
G NGF nerve growth factor treatment ISO RGD PMID:22795377 RGD:7242774 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr21:119,174,829...119,196,840 JBrowse link
G OPTN optineurin ISO protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr 9:13,142,036...13,176,996
Ensembl chr 9:13,150,426...13,177,021 		JBrowse link
G PTGS2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr25:42,733,535...42,742,463
Ensembl chr25:42,734,771...42,742,429 		JBrowse link
G SOD2 superoxide dismutase 2 ISO RGD PMID:21060756 RGD:7175518 NCBI chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		JBrowse link
Congenital Lower Urinary Tract Obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BNC2 basonuclin zinc finger protein 2 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31051115 NCBI chr12:62,775,827...63,233,077
Ensembl chr12:62,777,045...63,223,696 		JBrowse link
G PPIC peptidylprolyl isomerase C ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr23:26,079,473...26,095,595
Ensembl chr23:26,075,893...26,095,604 		JBrowse link
G PRDM6 PR/SET domain 6 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr23:26,148,811...26,269,255
Ensembl chr23:26,149,678...26,247,674 		JBrowse link
G SNCAIP synuclein alpha interacting protein ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr23:25,397,944...25,545,185
Ensembl chr23:25,398,534...25,545,962 		JBrowse link
G SNX2 sorting nexin 2 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr23:25,828,862...25,882,252
Ensembl chr23:25,828,919...25,881,791 		JBrowse link
G SNX24 sorting nexin 24 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr23:25,897,522...26,068,841
Ensembl chr23:25,897,637...26,071,577 		JBrowse link
Penoscrotal Transposition term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Congenital transposition of the penis ClinVar PMID:25741868 NCBI chr16:43,248,341...43,282,045
Ensembl chr16:43,250,435...43,281,670 		JBrowse link
urethral obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP19A1 cytochrome P450 family 19 subfamily A member 1 ISO RGD PMID:12050560 RGD:7257713 NCBI chr26:32,074,260...32,164,926
Ensembl chr26:32,132,425...32,164,277 		JBrowse link
G GJA1 gap junction protein alpha 1 ISO mRNA,protein:increased expression:smooth muscle cell: RGD PMID:11900482 RGD:11568666 NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G GJB2 gap junction protein beta 2 ISO mRNA,protein:increased expression:urothelium: RGD PMID:11900482 RGD:11568666 NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO RGD PMID:23698112 RGD:7244171 NCBI chr19:4,246,144...4,352,648
Ensembl chr19:4,246,122...4,353,325 		JBrowse link
G NOS1 nitric oxide synthase 1 ISO protein:increased expression:urinary bladder RGD PMID:23766828 RGD:7257604 NCBI chr11:112,642,374...112,673,882 JBrowse link
G TGFB1 transforming growth factor beta 1 treatment ISO RGD PMID:24066596 RGD:7394856 NCBI chr 6:35,651,583...35,674,387
Ensembl chr 6:35,648,677...35,674,365 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15275
    disease of anatomical entity 14910
      Urogenital Diseases 4680
        urinary system disease 2373
          urethral disease 64
            Epispadias + 39
            Penoscrotal Transposition 1
            Trichomonas vaginalis trichomoniasis 0
            Urethral Neoplasms + 0
            fibroepithelial polyp of urethra 0
            gonorrhea + 0
            prolapse of urethra 0
            urethral calculus 0
            urethral diverticulum 0
            urethral false passage 0
            urethral gland abscess 0
            urethral intrinsic sphincter deficiency 0
            urethral obstruction + 24
            urethral syndrome 0
            urethritis 0
paths to the root