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 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr15:46,386,703...46,458,679
Ensembl chr15:46,386,712...46,432,965
JBrowse link
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 8:72,814,737...72,841,496
Ensembl chr 8:72,814,740...72,842,228
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 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      cardiovascular system disease 4395
        heart disease 2660
          heart valve disease 385
            Pulmonary Atresia 3
              Pulmonary Atresia with Intact Ventricular Septum 1
              Pulmonary Atresia with Ventricular Septal Defect 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        Congenital Abnormalities 5180
          Cardiovascular Abnormalities 1127
            Vascular Malformations 73
              Pulmonary Atresia 3
                Pulmonary Atresia with Intact Ventricular Septum 1
                Pulmonary Atresia with Ventricular Septal Defect 1
paths to the root