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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:Visceral Heterotaxy 8, Autosomal
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Accession:DOID:9007421 term browser browse the term
Definition:An autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs. (OMIM)
Synonyms:related_synonym: HTX8
 primary_id: OMIM:617205
For additional species annotation, visit the Alliance of Genome Resources.



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Visceral Heterotaxy 8, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkd1l1 polycystin 1 like 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 8, AUTOSOMAL
ClinVar Annotator: match by term: Heterotaxy, visceral, 8, autosomal
ClinVar
OMIM
PMID:25741868 PMID:27616478 PMID:28492532 PMID:30664273 PMID:31026592 More... NCBI chr14:83,552,964...83,670,062
Ensembl chr14:83,545,469...83,638,498
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      visceral heterotaxy 96
        Visceral Heterotaxy 8, Autosomal 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Cardiovascular Abnormalities 1145
            congenital heart disease 1088
              visceral heterotaxy 96
                Visceral Heterotaxy 8, Autosomal 1
paths to the root