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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:Neonatal Pulmonary Hypertension
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Accession:DOID:9003515 term browser browse the term
Synonyms:exact_synonym: PHN
 related_synonym: CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM;   neonatal pulmonary hypertension, susceptibility to
 primary_id: OMIM:615371
 alt_id: RDO:9000755
For additional species annotation, visit the Alliance of Genome Resources.


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Neonatal Pulmonary Hypertension term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cps1 carbamoyl-phosphate synthase 1 susceptibility ISO ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:11407344, PMID:14718356, PMID:15465784, PMID:16708072, PMID:20154341, PMID:21767969 NCBI chr 9:74,113,437...74,236,274
Ensembl chr 9:74,124,016...74,236,274
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          Neonatal Pulmonary Hypertension 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        heart disease 2667
          congestive heart failure 385
            Cor pulmonale 25
              chronic pulmonary heart disease 22
                primary pulmonary hypertension 22
                  Neonatal Pulmonary Hypertension 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.