.
scimitar syndrome - Ontology Report - Rat Genome Database

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 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
Advanced Search (OLGA)

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: MIM:106700
 xref: EFO:1001167;   ICD10CM:Q26.2;   ICD10CM:Q26.8;   NCI:C85056;   NCI:C98585;   ORDO:185;   ORDO:99125
For additional species annotation, visit the Alliance of Genome Resources.

 Loading Annotations... 
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
X
Y

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 IAGP ClinVar Annotator: match by term: Total anomalous pulmonary venous return
ClinVar Annotator: match by term: TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return 		ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr10:90,912,096...90,921,087
Ensembl chr10:90,912,096...90,921,087 		JBrowse link
G BMP7 bone morphogenetic protein 7 IAGP ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:25741868 PMID:28492532 NCBI chr20:57,168,753...57,266,641
Ensembl chr20:57,168,753...57,266,641 		JBrowse link
G IFT88 intraflagellar transport 88 ISS OMIM:106700 MouseDO NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G MYRF myelin regulatory factor IAGP ClinVar Annotator: match by term: Scimitar syndrome ClinVar PMID:25741868 NCBI chr11:61,752,636...61,788,518
Ensembl chr11:61,752,636...61,788,518 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISS OMIM:106700 MouseDO NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G SMAD2 SMAD family member 2 IAGP ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146 		JBrowse link
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD5 acyl-CoA binding domain containing 5 IAGP ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046 		JBrowse link
G MASTL microtubule associated serine/threonine kinase like IAGP ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr10:27,154,479...27,187,953
Ensembl chr10:27,154,824...27,187,953 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    syndrome 39471
      scimitar syndrome 8
        Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 2
Path 2
Term Annotations click to browse term
  disease 151455
    Developmental Disease 49490
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 42969
        Congenital Abnormalities 16637
          Cardiovascular Abnormalities 2351
            Vascular Malformations 147
              scimitar syndrome 8
                Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 2
paths to the root