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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:bladder exstrophy
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Accession:DOID:0080174 term browser browse the term
Definition:A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. (DO)
Synonyms:exact_synonym: bladder exstrophies;   bladder extrophies;   bladder extrophy;   exstrophy of bladder;   exstrophy of the bladder;   urinary bladder exstrophies;   urinary bladder exstrophy
 primary_id: MESH:D001746
 alt_id: OMIM:600057
 xref: ICD10CM:Q64.10;   ICD9CM:753.5;   ORDO:93930
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Bladder exstrophy ClinVar NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
JBrowse link
G Tp63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      bladder exstrophy-epispadias-cloacal exstrophy complex 10
        bladder exstrophy 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Urogenital Abnormalities 285
            Epispadias 10
              bladder exstrophy-epispadias-cloacal exstrophy complex 10
                bladder exstrophy 2
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.