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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:Structural Heart Defects and Renal Anomalies Syndrome
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Accession:DOID:9005528 term browser browse the term
Synonyms:exact_synonym: SHDRA
 related_synonym: TYPE I TRUNCUS ARTERIOSUS
 primary_id: OMIM:617478


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Structural Heart Defects and Renal Anomalies Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem260 transmembrane protein 260 ISO ClinVar Annotator: match by term: Structural heart defects and renal anomalies syndrome | ClinVar Annotator: match by term: Type I truncus arteriosus OMIM
ClinVar		 PMID:25741868 PMID:28318500 PMID:28492532 PMID:32860008 PMID:34612517 NCBI chr15:21,734,119...21,804,049
Ensembl chr15:21,734,151...21,806,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Structural Heart Defects and Renal Anomalies Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21086
    Developmental Disease 18380
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18236
        Congenital Abnormalities 7501
          Cardiovascular Abnormalities 1561
            congenital heart disease 1362
              Structural Heart Defects and Renal Anomalies Syndrome 1
paths to the root