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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:multiple types of congenital heart defects 6
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Accession:DOID:0060772 term browser browse the term
Definition:A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: CHTD6;   DTGA3;   congenital heart defects, multiple types, 6;   dextro-looped transposition of the great arteries 3
 broad_synonym: GDF1-RELATED CONDITION;   GDF1-RELATED DISORDERS
 primary_id: OMIM:613854


show annotations for term's descendants           Sort by:
multiple types of congenital heart defects 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 OMIM
ClinVar		 PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr 2:58,972,918...58,976,294
Ensembl chr 2:58,951,726...58,974,672 		JBrowse link
G UPF1 UPF1 RNA helicase and ATPase ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 6 ClinVar PMID:1792434 PMID:14648004 PMID:17924340 PMID:17936261 PMID:20413652 More... NCBI chr 2:58,975,013...59,013,546
Ensembl chr 2:58,975,023...59,013,495 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      congenital heart disease 1320
        dextro-looped transposition of the great arteries 54
          multiple types of congenital heart defects 6 2
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        Congenital Abnormalities 7316
          Cardiovascular Abnormalities 1512
            congenital heart disease 1320
              Congenital Heart Defects, Multiple Types 25
                multiple types of congenital heart defects 6 2
paths to the root