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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:gastroschisis
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Accession:DOID:11044 term browser browse the term
Definition:A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM.
Synonyms:exact_synonym: congenital fissure of the abdominal cavity;   gastroschises
 primary_id: MESH:D020139
 alt_id: OMIM:230750;   RDO:0002954
 xref: GARD:8661;   ICD10CM:Q79.3;   ICD9CM:756.73;   NCI:C84725
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
gastroschisis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:17051589 RGD:5148000 NCBI chr14:81,367,466...81,426,610
Ensembl chr14:81,367,468...81,426,496
JBrowse link
G Igf1r insulin-like growth factor 1 receptor IEP protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 1:128,924,921...129,213,816
Ensembl chr 1:128,924,966...129,206,516
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase severity IEP protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:230750 MouseDO NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr10:66,188,290...66,221,621
Ensembl chr10:66,189,786...66,313,190
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      gastroschisis 5
        Paraomphalocele 0
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      Urogenital Diseases 4199
        Female Urogenital Diseases and Pregnancy Complications 1945
          Female Urogenital Diseases 1649
            female reproductive system disease 1645
              prolapse of female genital organ 177
                enterocele 177
                  Abdominal Hernia 21
                    gastroschisis 5
                      Paraomphalocele 0
paths to the root