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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:Epispadias
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Accession:DOID:9000336 term browser browse the term
Definition:A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN.
Synonyms:exact_synonym: Epispadia
 primary_id: MESH:D004842


show annotations for term's descendants           Sort by:
bladder exstrophy term browser
Symbol Object Name 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 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 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 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 RGD 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 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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Urogenital Abnormalities 441
          Epispadias 33
            bladder exstrophy-epispadias-cloacal exstrophy complex + 33
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        urinary system disease 2825
          urethral disease 58
            Epispadias 33
              bladder exstrophy-epispadias-cloacal exstrophy complex + 33
paths to the root