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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:developmental cardiac valvular defect
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Accession:DOID:0080633 term browser browse the term
Definition:A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. (DO)
Synonyms:primary_id: MESH:C565882
 alt_id: OMIM:212093
For additional species annotation, visit the Alliance of Genome Resources.


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developmental cardiac valvular defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr 6:99,282,850...99,350,367
Ensembl chr 6:99,282,850...99,350,340
JBrowse link
G Pld1 phospholipase D1 ISO ClinVar Annotator: match by term: Cardiac valvular defect, developmental ClinVar
OMIM
PMID:27799408 NCBI chr 2:113,651,967...113,849,403
Ensembl chr 2:113,652,348...113,849,403
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    physical disorder 982
      developmental cardiac valvular defect 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              developmental cardiac valvular defect 2
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.