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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:right atrial isomerism
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Accession:DOID:0060856 term browser browse the term
Definition:A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO)
Synonyms:exact_synonym: Ivemark syndrome;   right atrial isomerism with asplenia;   right atrial isomerisms
 related_synonym: asplenia with cardiovascular anomalies
 xref: GARD:6795;   ICD10CM:Q20.6;   ORDO:97548
For additional species annotation, visit the Alliance of Genome Resources.



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right atrial isomerism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr2b activin A receptor type 2B ISS OMIM:208530 MouseDO NCBI chr 8:119,138,901...119,178,477
Ensembl chr 8:119,138,812...119,170,458
JBrowse link
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:28492532 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,104,466...19,112,519
JBrowse link
G Cfc1 cripto, FRL-1, cryptic family 1 ISS OMIM:208530 MouseDO NCBI chr 9:36,742,106...36,751,931
Ensembl chr 9:36,739,071...36,751,930
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Right atrial isomerism ClinVar PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:28492532 More... NCBI chr16:19,097,309...19,112,519
Ensembl chr16:19,097,314...19,112,519
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    syndrome 9745
      visceral heterotaxy 110
        right atrial isomerism 4
Path 2
Term Annotations click to browse term
  disease 18215
    disease of anatomical entity 17576
      Immune & Inflammatory Diseases 5205
        immune system disease 4507
          lymphatic system disease 1505
            splenic disease 154
              visceral heterotaxy 110
                right atrial isomerism 4
paths to the root