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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
 xref: EFO:1000949;   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 chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830 		JBrowse link
G IGF1R insulin like growth factor 1 receptor ISO protein:increased expression:liver, intestine (rat) RGD PMID:23381816 RGD:12904922 NCBI chr 3:41,795,337...42,096,255
Ensembl chr 3:41,794,623...42,090,387 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase severity ISO protein:decreased expression:intestine: RGD PMID:15486901 RGD:12910745 NCBI chr13:47,108,442...47,190,935
Ensembl chr13:47,108,504...47,190,029 		JBrowse link
G LRP1 LDL receptor related protein 1 ISO OMIM:230750 MouseDO NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO protein:increased expression:intestine (rat) RGD PMID:21960425 RGD:5508749 NCBI chr 9:42,171,821...42,210,217
Ensembl chr 9:42,171,821...42,208,588 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    physical disorder 4894
      gastroschisis 5
        Paraomphalocele 0
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      Urogenital Diseases 4750
        Female Urogenital Diseases and Pregnancy Complications 2378
          Female Urogenital Diseases 1937
            female reproductive system disease 1934
              prolapse of female genital organ 192
                enterocele 192
                  Abdominal Hernia 39
                    gastroschisis 5
                      Paraomphalocele 0
paths to the root