ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0005514
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bladder exstrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd5 frizzled class receptor 5 JBrowse link 9 71,443,784 71,445,541 RGD:8554872
G Isl1 ISL LIM homeobox 1 JBrowse link 2 48,488,911 48,501,217 RGD:8554872
G Lrp10 LDL receptor related protein 10 JBrowse link 15 33,107,706 33,114,831 RGD:8554872
G Lztr1 leucine-zipper-like transcription regulator 1 JBrowse link 11 87,381,638 87,397,849 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:13592920
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt11 Wnt family member 11 JBrowse link 1 163,794,136 163,813,756 RGD:8554872
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd5 frizzled class receptor 5 JBrowse link 9 71,443,784 71,445,541 RGD:8554872
G Isl1 ISL LIM homeobox 1 JBrowse link 2 48,488,911 48,501,217 RGD:8554872
G Lrp10 LDL receptor related protein 10 JBrowse link 15 33,107,706 33,114,831 RGD:8554872
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11568641
G Wnt10a Wnt family member 10A JBrowse link 9 82,053,581 82,066,047 RGD:8554872
G Wnt11 Wnt family member 11 JBrowse link 1 163,794,136 163,813,756 RGD:8554872
G Wnt3 Wnt family member 3 JBrowse link 10 91,830,709 91,874,907 RGD:8554872
G Wnt6 Wnt family member 6 JBrowse link 9 82,033,543 82,047,172 RGD:8554872
G Wnt7a Wnt family member 7A JBrowse link 4 122,994,425 123,040,609 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        Urogenital Abnormalities 244
          Epispadias 10
            bladder exstrophy-epispadias-cloacal exstrophy complex + 10
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        urinary system disease 2009
          urethral disease 28
            Epispadias 10
              bladder exstrophy-epispadias-cloacal exstrophy complex + 10
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.