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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:tricuspid atresia
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Accession:DOID:0080169 term browser browse the term
Definition:Absence of the orifice between the RIGHT ATRIUM and RIGHT VENTRICLE, with the presence of an atrial defect through which all the systemic venous return reaches the left heart. As a result, there is left ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR) because the right ventricle is absent or not functional.
Synonyms:exact_synonym: Absent Right Atrioventricular Connection;   Tricuspid Atresias;   Tricuspid Valve Atresia;   Tricuspid Valve Atresias
 primary_id: MESH:D018785;   RDO:0000232
 alt_id: OMIM:605067
 xref: GARD:5274
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
tricuspid atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Tricuspid atresia ClinVar PMID:25741868 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS OMIM:605067 MouseDO NCBI chr 7:79,471,277...79,964,405
Ensembl chr 7:79,638,046...79,964,405
JBrowse link
Congenital Agenesis of the Tricuspid Valve term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Congenital agenesis of the tricuspid valve ClinVar PMID:25741868 NCBI chr 7:70,846,313...70,927,028
Ensembl chr 7:70,846,344...70,926,903
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      congenital heart disease 1074
        tricuspid atresia 2
          Congenital Agenesis of the Tricuspid Valve 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              tricuspid atresia 2
                Congenital Agenesis of the Tricuspid Valve 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.