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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-epispadias-cloacal exstrophy complex
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Accession:DOID:0080173 term browser browse the term
Definition:A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. (DO)
Synonyms:exact_synonym: Bladder Exstrophy and Epispadias Complex;   exstrophy-epispadias complex
 primary_id: MESH:C564009
 alt_id: OMIM:258040;   RDO:0013111
 xref: ORDO:322
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
bladder exstrophy-epispadias-cloacal exstrophy complex term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd5 frizzled class receptor 5 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:71,443,784...71,445,541
Ensembl chr 9:71,443,588...71,445,739
JBrowse link
G Isl1 ISL LIM homeobox 1 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 2:48,488,911...48,501,217
Ensembl chr 2:48,487,736...48,501,436
JBrowse link
G Lrp10 LDL receptor related protein 10 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr15:33,107,706...33,114,831
Ensembl chr15:33,108,671...33,114,829
JBrowse link
G Tp63 tumor protein p63 ISO DNA:deletion, insertion, SNPs: :multiple RGD PMID:23284286 RGD:11568641 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX ClinVar PMID:22581971, PMID:23401279, PMID:24398796, PMID:28492532, PMID:30426266 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
G Wnt11 Wnt family member 11 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 1:163,794,136...163,813,756
Ensembl chr 1:163,797,660...163,813,756
JBrowse link
G Wnt3 Wnt family member 3 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr10:91,830,709...91,874,907
Ensembl chr10:91,830,654...91,874,793
JBrowse link
G Wnt6 Wnt family member 6 ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 9:82,033,543...82,047,172
Ensembl chr 9:82,033,543...82,047,166
JBrowse link
G Wnt7a Wnt family member 7A ISO ClinVar Annotator: match by term: Exstrophy-epispadias complex ClinVar NCBI chr 4:122,994,425...123,040,609
Ensembl chr 4:122,994,425...123,040,609
JBrowse link
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 16023
    physical disorder 996
      bladder exstrophy-epispadias-cloacal exstrophy complex 10
        bladder exstrophy 2
        cloacal exstrophy 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      Urogenital Diseases 4155
        urinary system disease 2075
          urethral disease 29
            Epispadias 10
              bladder exstrophy-epispadias-cloacal exstrophy complex 10
                bladder exstrophy 2
                cloacal exstrophy 0
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.