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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 Flna filamin A ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:25741868 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:25741868 PMID:32439764 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451
JBrowse link
G Lrp1 LDL receptor related protein 1 ISS OMIM:164750 MouseDO NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:25741868 NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
JBrowse link
G Plod1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 ISO ClinVar Annotator: match by term: Omphalocoele ClinVar PMID:25741868 NCBI chr 5:158,340,674...158,367,581
Ensembl chr 5:158,340,490...158,367,620
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      omphalocele 5
Path 2
Term Annotations click to browse term
  disease 18109
    Pathological Conditions, Signs and Symptoms 11297
      Anatomical Pathological Conditions 2194
        omphalocele 5
paths to the root