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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 5, Autosomal
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Accession:DOID:9008288 term browser browse the term
Synonyms:exact_synonym: HTX5;   SIV
 broad_synonym: situs invertus viscerum
 related_synonym: NODAL-related disorder;   NODAL-related disorders
 primary_id: OMIM:270100


show annotations for term's descendants           Sort by:
Visceral Heterotaxy 5, Autosomal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4EBP2 eukaryotic translation initiation factor 4E binding protein 2 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:12447384 PMID:18579681 PMID:28492532 NCBI chr10:70,404,145...70,428,618
Ensembl chr10:70,404,145...70,428,618 		JBrowse link
G NODAL nodal growth differentiation factor IAGP
EXP		 ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-Related Disorders
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9354794 PMID:9536098 PMID:12447384 PMID:16199547 PMID:17576681 More... NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951 		JBrowse link
G PALD1 phosphatase domain containing paladin 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:28492532 NCBI chr10:70,458,485...70,568,450
Ensembl chr10:70,478,767...70,668,754 		JBrowse link
G PRF1 perforin 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal ClinVar PMID:28492532 NCBI chr10:70,597,348...70,602,741
Ensembl chr10:70,597,348...70,602,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      visceral heterotaxy 129
        Visceral Heterotaxy 5, Autosomal 4
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Immune & Inflammatory Diseases 6729
        immune system disease 5892
          lymphatic system disease 2163
            splenic disease 174
              visceral heterotaxy 129
                situs inversus 80
                  Visceral Heterotaxy 5, Autosomal 4
paths to the root