Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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 PMID:28492532 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    physical disorder 4091
      bladder exstrophy-epispadias-cloacal exstrophy complex 10
        bladder exstrophy 2
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        Congenital Abnormalities 6694
          Urogenital Abnormalities 376
            Epispadias 10
              bladder exstrophy-epispadias-cloacal exstrophy complex 10
                bladder exstrophy 2
paths to the root