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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 NCBI chr15:28,151,018...28,158,149
Ensembl chr15:28,151,019...28,158,129
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    syndrome 10776
      visceral heterotaxy 111
        Visceral Heterotaxy 12, Autosomal 1
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        Congenital Abnormalities 7501
          Cardiovascular Abnormalities 1543
            congenital heart disease 1343
              visceral heterotaxy 111
                Visceral Heterotaxy 12, Autosomal 1
paths to the root