Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   atrial septal defect 6
 primary_id: MESH:C567764
 alt_id: OMIM:613087;   RDO:0012033
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
atrial heart septal defect 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tll1 tolloid-like 1 ISO ClinVar Annotator: match by term: Atrial septal defect 6 OMIM
ClinVar
PMID:10331975 PMID:18830233 PMID:25741868 PMID:31570783 NCBI chr16:25,509,146...25,710,330
Ensembl chr16:25,509,146...25,709,543
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      congenital heart disease 1140
        heart septal defect 152
          atrial heart septal defect 102
            atrial heart septal defect 6 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        Congenital Abnormalities 6484
          Cardiovascular Abnormalities 1202
            congenital heart disease 1140
              heart septal defect 152
                atrial heart septal defect 102
                  atrial heart septal defect 6 1
paths to the root