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:omphalocele
go back to main search page
Accession:DOID:0060327 term browser browse the term
Definition:A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (DO)
Synonyms:exact_synonym: exomphalos;   omphalocoele
 primary_id: OMIM:164750
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
omphalocele term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:10218527 PMID:10830906 PMID:10982180 PMID:11313763 PMID:11493200 PMID:12172392 PMID:12176036 PMID:12176179 PMID:12189487 PMID:12189493 PMID:12497637 PMID:12505163 PMID:14738110 PMID:14985372 PMID:15146474 PMID:15253766 PMID:15365987 PMID:15967879 PMID:16300957 PMID:17041943 PMID:17661817 PMID:18414213 PMID:19173109 PMID:19941053 PMID:21094084 PMID:22037723 PMID:22281373 PMID:24033266 PMID:24158611 PMID:24793888 PMID:25214170 PMID:25637381 PMID:25741868 PMID:26467025 PMID:26896187 PMID:28492532 PMID:30311386 PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:25741868 PMID:32439764 NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:164750 MouseDO NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:25741868 NCBI chr 1:167,309,021...167,335,550
Ensembl chr 1:167,309,051...167,334,741
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Omphalocele ClinVar PMID:25741868 NCBI chr 5:164,720,629...164,747,071
Ensembl chr 5:164,720,587...164,747,083
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      omphalocele 5
Path 2
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Anatomical Pathological Conditions 1588
        omphalocele 5
paths to the root