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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:Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
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Accession:DOID:9002298 term browser browse the term
Synonyms:exact_synonym: HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY
 primary_id: MESH:C565359;   RDO:0014015
 alt_id: OMIM:605115
For additional species annotation, visit the Alliance of Genome Resources.


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Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr3c2 nuclear receptor subfamily 3, group C, member 2 ISO ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy OMIM
ClinVar
PMID:10884226 NCBI chr19:34,408,275...34,761,003
Ensembl chr19:34,448,289...34,752,695
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        vascular disease 3414
          hypertension 1493
            Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        vascular disease 3414
          artery disease 2363
            hypertension 1493
              Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 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.