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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.


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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Tp63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		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 chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
G Bmp10 bone morphogenetic protein 10 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 4:119,872,066...119,877,694
Ensembl chr 4:119,872,045...119,878,627 		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 1:101,600,369...101,604,288
Ensembl chr 1:101,600,369...101,604,269 		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 chr 7:116,987,616...117,125,035
Ensembl chr 7:116,987,605...117,125,164 		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 chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354 		JBrowse link
G Cyp4f39 cytochrome P450, family 4, subfamily f, polypeptide 39 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:11,426,806...11,505,553
Ensembl chr 7:11,433,371...11,536,181 		JBrowse link
G Egfl6 EGF-like-domain, multiple 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr  X:27,884,087...27,942,044
Ensembl chr  X:27,884,125...27,942,044 		JBrowse link
G Eif6 eukaryotic translation initiation factor 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr 3:144,325,038...144,331,396
Ensembl chr 3:144,325,036...144,331,401 		JBrowse link
G Epha1 Eph receptor A1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 4:71,246,409...71,260,920
Ensembl chr 4:71,246,409...71,260,846 		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 chr20:6,369,416...6,386,631
Ensembl chr20:6,375,573...6,386,631 		JBrowse link
G Flcn folliculin ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 PMID:28492532 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769 		JBrowse link
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 9:66,113,096...66,120,276
Ensembl chr 9:66,113,112...66,121,457 		JBrowse link
G Hsd11b1 hydroxysteroid 11-beta dehydrogenase 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr13:104,728,539...104,798,884
Ensembl chr13:104,728,539...104,788,687 		JBrowse link
G Ints2 integrator complex subunit 2 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr10:71,031,647...71,079,138
Ensembl chr10:71,031,647...71,079,076 		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 2:48,079,412...48,090,704
Ensembl chr 2:48,080,522...48,095,584 		JBrowse link
G Kdm5b lysine demethylase 5B ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr13:46,001,589...46,073,868
Ensembl chr13:46,002,542...46,073,872 		JBrowse link
G Lmo7 LIM domain 7 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr15:78,566,999...78,769,833
Ensembl chr15:78,567,023...78,769,783 		JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr15:27,921,335...27,927,507
Ensembl chr15:27,920,259...27,927,505 		JBrowse link
G Or51a7 olfactory receptor family 51 subfamily A member 7 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 1:157,395,779...157,396,717
Ensembl chr 1:157,395,779...157,396,717 		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 chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		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 chr 9:35,943,522...35,967,367
Ensembl chr 9:35,944,085...35,966,927 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306 		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 3:168,785,488...168,787,290
Ensembl chr 3:168,785,490...168,787,290 		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 3:153,293,969...153,296,717
Ensembl chr 3:153,294,010...153,296,779 		JBrowse link
G Tchhl1 trichohyalin-like 1 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 2:179,134,941...179,138,467
Ensembl chr 2:179,135,796...179,138,202 		JBrowse link
G Tcp11l1 t-complex 11 like 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr 3:91,047,006...91,092,687
Ensembl chr 3:90,998,270...91,092,006 		JBrowse link
G Tmem120b transmembrane protein 120B ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr12:33,447,441...33,487,257
Ensembl chr12:33,446,660...33,487,200 		JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple
ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:23284286 RGD:11568641 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Tshr thyroid stimulating hormone receptor ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 6:110,341,585...110,475,297
Ensembl chr 6:110,341,581...110,474,538 		JBrowse link
G Wdr81 WD repeat domain 81 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr10:60,281,969...60,295,374
Ensembl chr10:60,281,972...60,295,296 		JBrowse link
G Wiz WIZ zinc finger ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar PMID:25741868 NCBI chr 7:11,366,837...11,395,279
Ensembl chr 7:11,367,035...11,395,490 		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 chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		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 1:153,134,503...153,154,294
Ensembl chr 1:153,138,197...153,154,294 		JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr10:88,680,198...88,724,170
Ensembl chr10:88,680,248...88,724,099 		JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 9:76,329,882...76,343,523
Ensembl chr 9:76,329,882...76,343,523 		JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex ClinVar NCBI chr 4:123,863,108...123,908,981
Ensembl chr 4:123,863,108...123,908,981 		JBrowse link
G Zfp280b zinc finger protein 280B ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar PMID:25741868 NCBI chr20:12,627,106...12,641,943
Ensembl chr20:12,627,106...12,646,683 		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 IMP RGD PMID:20886573 RGD:5688368 NCBI chr15:40,830,125...40,935,902
Ensembl chr15:40,832,534...40,927,500 		JBrowse link
G Col1a1 collagen type I alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col3a1 collagen type III alpha 1 chain treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Cyp19a1 cytochrome P450, family 19, subfamily a, polypeptide 1 ISO RGD PMID:21356374 RGD:7257709 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Eln elastin treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP protein:increased expression:urinary bladder (rat) RGD PMID:12118092 RGD:9068887 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A IEP mRNA:increased expression:urinary bladder RGD PMID:23344575 RGD:7257660 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Mmp7 matrix metallopeptidase 7 treatment IEP RGD PMID:23313213 RGD:7257549 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902 		JBrowse link
G Ngf nerve growth factor treatment IDA RGD PMID:22795377 RGD:7242774 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:decreased expression:urinary bladder RGD PMID:21256554 RGD:4891960 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Optn optineurin IEP protein:increased expression:urinary bladder: RGD PMID:16361812 RGD:7775024 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15311063 NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188 		JBrowse link
G Sod2 superoxide dismutase 2 IEP RGD PMID:21060756 RGD:7175518 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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 chr 5:98,679,071...99,016,044
Ensembl chr 5:98,687,410...99,079,426 		JBrowse link
G Ppic peptidylprolyl isomerase C ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,842,410...46,855,016
Ensembl chr18:46,842,409...46,855,017 		JBrowse link
G Prdm6 PR/SET domain 6 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,904,115...47,008,482
Ensembl chr18:46,904,127...47,007,823 		JBrowse link
G Sncaip synuclein, alpha interacting protein ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,205,846...46,343,932
Ensembl chr18:46,207,152...46,343,929 		JBrowse link
G Snx2 sorting nexin 2 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,602,223...46,643,870
Ensembl chr18:46,602,284...46,643,865 		JBrowse link
G Snx24 sorting nexin 24 ISO ClinVar Annotator: match by term: Lower urinary tract obstruction, congenital ClinVar PMID:31690835 NCBI chr18:46,670,987...46,826,070
Ensembl chr18:46,671,443...46,826,068 		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, polypeptide 1 ISO RGD PMID:12050560 RGD:7257713 NCBI chr 8:54,552,978...54,580,375
Ensembl chr 8:54,553,165...54,580,758 		JBrowse link
G Gja1 gap junction protein, alpha 1 IEP mRNA,protein:increased expression:smooth muscle cell: RGD PMID:11900482 RGD:11568666 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gjb2 gap junction protein, beta 2 IEP mRNA,protein:increased expression:urothelium: RGD PMID:11900482 RGD:11568666 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Mapk1 mitogen activated protein kinase 1 IEP RGD PMID:23698112 RGD:7244171 NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP protein:increased expression:urinary bladder RGD PMID:23766828 RGD:7257604 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment IEP RGD PMID:24066596 RGD:7394856 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      Urogenital Diseases 5275
        urinary system disease 2830
          urethral disease 62
            Epispadias + 38
            Penoscrotal Transposition 0
            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