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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 12, Autosomal
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Accession:DOID:9004727 term browser browse the term
Definition:An embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. Caused by homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11.
Synonyms:exact_synonym: HTX12
 primary_id: OMIM:619702

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Visceral Heterotaxy 12, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cirop ciliated left-right organizer metallopeptidase ISO ClinVar Annotator: match by term: Heterotaxy, visceral, 12, autosomal OMIM
ClinVar		 PMID:25741868
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      visceral heterotaxy 107
        Visceral Heterotaxy 12, Autosomal 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        Congenital Abnormalities 7061
          Cardiovascular Abnormalities 1470
            congenital heart disease 1284
              visceral heterotaxy 107
                Visceral Heterotaxy 12, Autosomal 1
paths to the root