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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:omphalocele
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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 Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Creld1 cysteine-rich with EGF-like domains 1 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:30311386 NCBI chr 4:145,440,284...145,449,894
Ensembl chr 4:145,440,114...145,449,892
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:2706105, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9482292, PMID:9600457, PMID:9620796, PMID:9819448, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10982180, PMID:10982182, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11483639, PMID:11493200, PMID:11668644, PMID:11918723, PMID:12072059, PMID:12081719, PMID:12172392, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12684873, PMID:12786762, PMID:14070830, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15482471, PMID:15666300, PMID:15954104, PMID:15967879, PMID:16088916, PMID:16300957, PMID:16336662, PMID:16380907, PMID:16773579, PMID:16868655, PMID:17041943, PMID:17428550, PMID:17553572, PMID:17661817, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18804553, PMID:18925674, PMID:18985073, PMID:19173109, PMID:19371219, PMID:19375528, PMID:19925344, PMID:19941053, PMID:20073550, PMID:20236118, PMID:20301449, PMID:20739944, PMID:20815033, PMID:21056478, PMID:21094084, PMID:21465647, PMID:21468573, PMID:21910243, PMID:22037723, PMID:22281373, PMID:22567152, PMID:22855627, PMID:22975760, PMID:22981120, PMID:23489192, PMID:23757202, PMID:24033266, PMID:24158611, PMID:24346070, PMID:24793888, PMID:25214170, PMID:25637381, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26467025, PMID:26896187, PMID:26940866, PMID:26969326, PMID:28492532, PMID:29362677, PMID:29501291, PMID:30311386, PMID:30872814, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 16035
    physical disorder 997
      omphalocele 6
Path 2
Term Annotations click to browse term
  disease 16035
    Pathological Conditions, Signs and Symptoms 8761
      Anatomical Pathological Conditions 1535
        omphalocele 6
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.