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 OMIM:613087
ClinVar Annotator: match by term: Atrial septal defect 6
OMIM
ClinVar
PMID:18830233 PMID:25741868 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 17435
    physical disorder 3130
      congenital heart disease 1084
        heart septal defect 135
          atrial heart septal defect 84
            atrial heart septal defect 6 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        Congenital Abnormalities 5794
          Cardiovascular Abnormalities 1143
            congenital heart disease 1084
              heart septal defect 135
                atrial heart septal defect 84
                  atrial heart septal defect 6 1
paths to the root