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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:Pulmonary Atresia
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Accession:DOID:9007098 term browser browse the term
Definition:A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS).
Synonyms:exact_synonym: PULMONARY ARTERY ATRESIA;   Pulmonary Atresias;   Pulmonary Valve Atresia;   Pulmonary Valve Atresias
 primary_id: MESH:D018633


show annotations for term's descendants           Sort by:
Pulmonary Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap5 Rho GTPase activating protein 5 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 6:69,975,904...70,039,299
Ensembl chr 6:69,976,214...70,037,660 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832 		JBrowse link
G Cdc27 cell division cycle 27 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr10:89,400,720...89,449,816
Ensembl chr10:89,400,940...89,449,736 		JBrowse link
G Cnn2 calponin 2 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 7:9,712,505...9,719,678
Ensembl chr 7:9,712,516...9,719,656 		JBrowse link
G Ctbp2 C-terminal binding protein 2 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar PMID:25741868 NCBI chr 1:187,782,064...187,918,115
Ensembl chr 1:187,782,682...187,920,222 		JBrowse link
G Frg1 FSHD region gene 1 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr16:50,925,783...50,946,661
Ensembl chr16:50,925,803...50,946,661 		JBrowse link
G Gata4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Pulmonary valve atresia ClinVar PMID:18055909 PMID:20981092 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr15:37,459,601...37,531,291
Ensembl chr15:37,459,601...37,505,636 		JBrowse link
G Nodal nodal growth differentiation factor susceptibility ISO DNA:mutations RGD PMID:19064609 RGD:11568370 NCBI chr20:29,368,436...29,376,837
Ensembl chr20:29,368,436...29,376,837 		JBrowse link
G Nup153 nucleoporin 153 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr17:17,972,217...18,024,876
Ensembl chr17:17,972,217...18,024,876 		JBrowse link
G Pabpc1 poly(A) binding protein, cytoplasmic 1 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 7:67,777,438...67,789,731
Ensembl chr 7:67,777,381...67,789,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: Pulmonary artery atresia ClinVar NCBI chr 1:28,935,965...28,960,936
Ensembl chr 1:28,940,164...28,961,535 		JBrowse link
Pulmonary Atresia with Intact Ventricular Septum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpm1 tropomyosin 1 ISO ClinVar Annotator: match by term: Pulmonary atresia with intact ventricular septum ClinVar PMID:28359939 NCBI chr 8:67,635,479...67,662,330
Ensembl chr 8:67,635,479...67,662,802 		JBrowse link
Pulmonary Atresia with Ventricular Septal Defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Pulmonary atresia with ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      cardiovascular system disease 5412
        heart disease 3307
          heart valve disease 535
            Pulmonary Atresia 14
              Pulmonary Atresia with Intact Ventricular Septum 1
              Pulmonary Atresia with Ventricular Septal Defect 1
Path 2
Term Annotations click to browse term
  disease 18976
    Developmental Disease 14397
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13406
        Congenital Abnormalities 7581
          Cardiovascular Abnormalities 1549
            Vascular Malformations 127
              Pulmonary Atresia 14
                Pulmonary Atresia with Intact Ventricular Septum 1
                Pulmonary Atresia with Ventricular Septal Defect 1
paths to the root