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:scimitar syndrome
go back to main search page
Accession:DOID:4297 term browser browse the term
Definition:A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. (DO)
Synonyms:exact_synonym: APVR;   Halasz syndrome;   Pulmonary Venous Return Anomaly;   Scimitar Anomaly;   TAPVR;   TAPVR1;   Total Anomalous Pulmonary Venous Return;   anomalous pulmonary venous return;   congenital venolobar syndrome;   hypogenetic lung syndrome;   mirror-image lung syndrome;   pulmonary venolobar syndrome;   total anomalous pulmonary venous return 1;   vena cava bronchovascular syndrome
 primary_id: MESH:D012587
 alt_id: OMIM:106700
 xref: ICD10CM:Q26.2;   ICD10CM:Q26.8;   NCI:C85056;   NCI:C98585;   ORDO:185;   ORDO:99125
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
scimitar syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr 1:233,815,851...233,834,891
Ensembl chr 1:233,815,851...233,834,919
JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      scimitar syndrome 2
        Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 0
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Cardiovascular Abnormalities 1145
            Vascular Malformations 79
              scimitar syndrome 2
                Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 0
paths to the root