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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:dextro-looped transposition of the great arteries 3
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Accession:DOID:0060772 term browser browse the term
Definition:A dextro-looped transposition of the great arteries that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: CHTD6;   DTGA3;   congenital heart defects, multiple types, 6
 primary_id: OMIM:613854
For additional species annotation, visit the Alliance of Genome Resources.


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dextro-looped transposition of the great arteries 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cers1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3 ClinVar PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,789
JBrowse link
G Gdf1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Transposition of the great arteries, dextro-looped 3 OMIM
ClinVar
PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 PMID:25741868 PMID:28492532 PMID:28991257 NCBI chr16:20,845,580...20,860,789
Ensembl chr16:20,845,576...20,860,767
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      congenital heart disease 1057
        dextro-looped transposition of the great arteries 19
          dextro-looped transposition of the great arteries 3 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Congenital Abnormalities 4721
          Cardiovascular Abnormalities 1109
            congenital heart disease 1057
              Congenital Heart Defects, Multiple Types 8
                dextro-looped transposition of the great arteries 3 2
paths to the root