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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:atrial heart septal defect 6
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Accession:DOID:0110111 term browser browse the term
Definition:An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. (DO)
Synonyms:exact_synonym: ASD6;   TLL1-RELATED CONDITION;   atrial septal defect 6
 primary_id: MESH:C567764
 alt_id: OMIM:613087;   RDO:0012033


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atrial heart septal defect 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tll1 tolloid-like ISO DNA:deletion|insertion|mutations:exons:multiple (human
DNA:mutation:cds:p.I263V (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial septal defect 6 | ClinVar Annotator: match by term: TLL1-related condition		 OMIM
CTD
ClinVar
RGD		 PMID:10331975 PMID:18830233 PMID:25741868 PMID:28492532 PMID:31570783 More... RGD:155882583, RGD:155883161 NCBI chr 8:64,466,132...64,659,043
Ensembl chr 8:64,467,965...64,659,305 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    physical disorder 5000
      congenital heart disease 1351
        heart septal defect 214
          atrial heart septal defect 121
            atrial heart septal defect 6 1
Path 2
Term Annotations click to browse term
  disease 18300
    Developmental Disease 17910
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17780
        Congenital Abnormalities 7602
          Cardiovascular Abnormalities 1552
            congenital heart disease 1351
              heart septal defect 214
                atrial heart septal defect 121
                  atrial heart septal defect 6 1
paths to the root