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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: MIM:600057
 xref: ICD10CM:Q64.10;   ICD9CM:753.5;   MONDO:0010805;   ORDO:93930


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 chr11:96,991,956...97,008,127
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Tp63 tumor protein p63 ISS OMIM:600057 MouseDO NCBI chr11:88,343,647...88,554,543
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    physical disorder 5201
      bladder exstrophy-epispadias-cloacal exstrophy complex 38
        bladder exstrophy 2
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14665
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        Congenital Abnormalities 7891
          Urogenital Abnormalities 467
            Epispadias 38
              bladder exstrophy-epispadias-cloacal exstrophy complex 38
                bladder exstrophy 2
paths to the root