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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:A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. (DO)
Synonyms:exact_synonym: Absent Right Atrioventricular Connection;   Tricuspid Valve Atresia;   tricuspid atresias;   tricuspid valve atresias
 primary_id: MESH:D018785
 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 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910
JBrowse link
G Zfpm2 zinc finger protein, multitype 2 ISS OMIM:605067 MouseDO NCBI chr 7:71,678,658...72,116,209
Ensembl chr 7:71,678,880...72,116,205
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      congenital heart disease 1191
        tricuspid atresia 2
          Congenital Agenesis of the Tricuspid Valve 0
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      cardiovascular system disease 4830
        heart disease 2958
          heart valve disease 443
            tricuspid valve disease 10
              tricuspid atresia 2
                Congenital Agenesis of the Tricuspid Valve 0
paths to the root