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:Pulmonary Atresia
go back to main search page
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 Atresias;   Pulmonary Valve Atresia;   Pulmonary Valve Atresias
 primary_id: MESH:D018633;   RDO:0007224
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Pulmonary Atresia with Intact Ventricular Septum term browser
Symbol Object Name 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 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 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 17435
    disease of anatomical entity 16766
      cardiovascular system disease 4539
        heart disease 2705
          heart valve disease 391
            Pulmonary Atresia 2
              Pulmonary Atresia with Intact Ventricular Septum 1
              Pulmonary Atresia with Ventricular Septal Defect 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        Congenital Abnormalities 5794
          Cardiovascular Abnormalities 1143
            Vascular Malformations 83
              Pulmonary Atresia 2
                Pulmonary Atresia with Intact Ventricular Septum 1
                Pulmonary Atresia with Ventricular Septal Defect 1
paths to the root