Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
For additional species annotation, visit the Alliance of Genome Resources.



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 Zic3 Zic family member 3 ISO ClinVar Annotator: match by OMIM:306955
ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
ClinVar Annotator: match by term: Congenital heart defects, multiple types, 1, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, X-linked
ClinVar Annotator: match by term: Heterotaxy, visceral, 1, X-linked
ClinVar
OMIM
PMID:2629409 PMID:3674105 PMID:9354794 PMID:10980576 PMID:14681828 More... NCBI chr  X:136,123,662...136,134,295
Ensembl chr  X:136,124,026...136,134,746
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      visceral heterotaxy 96
        Congenital Heart Defects, Multiple Types, 1, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          lymphatic system disease 1333
            splenic disease 140
              visceral heterotaxy 96
                situs inversus 53
                  dextrocardia 42
                    Congenital Heart Defects, Multiple Types, 1, X-Linked 1
paths to the root