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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:Atrioventricular Septal Defect 5
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Accession:DOID:9003397 term browser browse the term
Synonyms:exact_synonym: AVSD5
 primary_id: MIM:614474


show annotations for term's descendants           Sort by:
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Mib1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:1,802,519...1,926,988
Ensembl chr18:1,802,519...1,920,689 		JBrowse link
G Mir1 microRNA 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:1,887,537...1,887,623 JBrowse link
G Mir133a1 microRNA 133a-1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:1,885,082...1,885,168 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    physical disorder 5180
      congenital heart disease 1404
        heart septal defect 222
          ventricular septal defect 162
            atrioventricular septal defect 61
              Atrioventricular Septal Defect 5 4
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      respiratory system disease 5243
        thoracic disease 4053
          heart disease 3474
            congenital heart disease 1404
              heart septal defect 222
                atrial heart septal defect 128
                  atrioventricular septal defect 61
                    Atrioventricular Septal Defect 5 4
paths to the root