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scimitar syndrome - Ontology Report - Rat Genome Database

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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:scimitar syndrome
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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
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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 1 | ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:19525294 PMID:19608031 PMID:23299917 PMID:23861362 PMID:24033266 More... NCBI chr 9:84,248,133...84,257,276
Ensembl chr 9:84,247,241...84,257,170 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Total anomalous pulmonary venous return ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944 		JBrowse link
G IFT88 intraflagellar transport 88 ISO OMIM:106700 MouseDO NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Scimitar syndrome ClinVar PMID:25741868 NCBI chr 1:12,066,277...12,103,091 JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO OMIM:106700 MouseDO NCBI chr 7:14,243,291...14,307,373
Ensembl chr 7:14,241,070...14,307,422 		JBrowse link
G SMAD2 SMAD family member 2 ISO ClinVar Annotator: match by term: Anomalous pulmonary venous return ClinVar NCBI chr18:33,017,138...33,105,320
Ensembl chr18:33,017,492...33,104,606 		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 ISO ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr 9:26,795,072...26,844,013
Ensembl chr 9:26,794,822...26,842,134 		JBrowse link
G MASTL microtubule associated serine/threonine kinase like ISO ClinVar Annotator: match by term: Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities ClinVar PMID:25741868 NCBI chr 9:26,752,354...26,786,802
Ensembl chr 9:26,753,331...26,787,019 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    syndrome 10491
      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 15420
    Developmental Disease 13511
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12674
        Congenital Abnormalities 7673
          Cardiovascular Abnormalities 1575
            Vascular Malformations 122
              scimitar syndrome 8
                Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 2
paths to the root