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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
ISS
DNA:SNP:cds:p.R653Q(c.1958G>A)(human)
OMIM:212093
MouseDO
RGD
PMID:18767138 RGD:12910957 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link
G Pld1 phospholipase D1 ISO ClinVar Annotator: match by term: Cardiac valvular defect, developmental OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:27799408 PMID:28492532 NCBI chr 2:110,849,205...111,047,692
Ensembl chr 2:110,893,608...111,047,692
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      developmental cardiac valvular defect 2
Path 2
Term Annotations click to browse term
  disease 18145
    Developmental Disease 12907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11612
        Congenital Abnormalities 6747
          Cardiovascular Abnormalities 1256
            congenital heart disease 1194
              developmental cardiac valvular defect 2
paths to the root