Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Congenital Heart Defects, Multiple Types, 1, X-Linked
go back to main search page
Accession:DOID:9003587 term browser browse the term
Synonyms:exact_synonym: HTX1;   Heterotaxy, Visceral, 1, X-Linked;   Heterotaxy, Visceral, X-Linked;   Laterality, X-linked;   dextrocardia with other cardiac malformations;   situs inversus, complex cardiac defects, and splenic defects, X-linked;   visceral heterotaxia
 narrow_synonym: CHTD1
 primary_id: MESH:C538116
 alt_id: OMIM:306955
 xref: EFO:0009136


show annotations for term's descendants           Sort by:
Congenital Heart Defects, Multiple Types, 1, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRG4 adhesion G protein-coupled receptor G4 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,300,963...136,416,890
Ensembl chr  X:136,300,963...136,416,890 		JBrowse link
G ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor 6 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,665,550...136,780,932
Ensembl chr  X:136,665,547...136,780,932 		JBrowse link
G BRS3 bombesin receptor subtype 3 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,487,947...136,493,780
Ensembl chr  X:136,487,947...136,493,780 		JBrowse link
G C1orf127 chromosome 1 open reading frame 127 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:25741868 PMID:34768622 NCBI chr 1:10,946,475...10,982,076
Ensembl chr 1:10,946,471...10,982,076 		JBrowse link
G CD40LG CD40 ligand IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,648,158...136,660,390
Ensembl chr  X:136,648,158...136,660,390 		JBrowse link
G FHL1 four and a half LIM domains 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,146,702...136,211,359
Ensembl chr  X:136,146,702...136,211,359 		JBrowse link
G GPR101 G protein-coupled receptor 101 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:137,023,929...137,033,995
Ensembl chr  X:137,023,929...137,033,995 		JBrowse link
G HTATSF1 HIV-1 Tat specific factor 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,497,229...136,512,346
Ensembl chr  X:136,497,079...136,512,346 		JBrowse link
G MAP7D3 MAP7 domain containing 3 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,213,220...136,256,482
Ensembl chr  X:136,213,220...136,256,482 		JBrowse link
G RBMX RNA binding motif protein X-linked IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		JBrowse link
G SLC9A6 solute carrier family 9 member A6 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:135,973,837...136,047,269
Ensembl chr  X:135,973,841...136,047,269 		JBrowse link
G VGLL1 vestigial like family member 1 IAGP ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked ClinVar PMID:15319456 PMID:15358621 PMID:16019685 PMID:18342287 PMID:21465648 More... NCBI chr  X:136,532,215...136,556,799
Ensembl chr  X:136,532,215...136,556,807 		JBrowse link
G ZIC3 Zic family member 3 IAGP
EXP		 ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked | ClinVar Annotator: match by term: Visceral heterotaxia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked		 ClinVar
CTD
OMIM		 PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:137,566,127...137,577,691
Ensembl chr  X:137,566,127...137,577,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    syndrome 18144
      visceral heterotaxy 130
        Congenital Heart Defects, Multiple Types, 1, X-Linked 13
Path 2
Term Annotations click to browse term
  disease 35753
    disease of anatomical entity 32492
      Immune & Inflammatory Diseases 6739
        immune system disease 5902
          lymphatic system disease 2170
            splenic disease 175
              visceral heterotaxy 130
                situs inversus 81
                  dextrocardia 53
                    Congenital Heart Defects, Multiple Types, 1, X-Linked 13
paths to the root