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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:Eisenmenger Complex
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Accession:DOID:9004363 term browser browse the term
Definition:A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow the mixing of pulmonary and systemic circulation, increase blood flow into the lung, and subsequent responses to low oxygen in blood. This complex is characterized by progressive PULMONARY HYPERTENSION; HYPERTROPHY of the RIGHT VENTRICLE; CYANOSIS; and ERYTHROCYTOSIS.
Synonyms:exact_synonym: Eisenmenger Syndrome;   Eisenmenger's Complex;   Eisenmenger's Syndrome;   Eisenmengers Complex;   Eisenmengers Syndrome
 primary_id: MESH:D004541;   RDO:0005449
 xref: NCI:C84390
For additional species annotation, visit the Alliance of Genome Resources.


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Eisenmenger Complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppb natriuretic peptide B disease_progression ISO protein:increased expression:blood: RGD PMID:22397941 RGD:7247629 NCBI chr 5:164,796,176...164,797,538
Ensembl chr 5:164,796,185...164,797,531
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      congenital heart disease 1074
        Eisenmenger Complex 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Eisenmenger Complex 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.