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


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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 1 ISO ClinVar Annotator: match by OMIM:613087
ClinVar Annotator: match by term: Atrial septal defect 6
OMIM
ClinVar
PMID:18830233 PMID:25741868 NCBI chr16:27,399,467...27,597,240
Ensembl chr16:27,399,467...27,597,240
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital heart disease 1057
        heart septal defect 126
          atrial heart septal defect 75
            atrial heart septal defect 6 1
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
              heart septal defect 126
                atrial heart septal defect 75
                  atrial heart septal defect 6 1
paths to the root