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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:Takao VCF Syndrome
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Accession:DOID:9002156 term browser browse the term
Synonyms:primary_id: MESH:C566051;   RDO:0014524
For additional species annotation, visit the Alliance of Genome Resources.


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Takao VCF Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Takao vcf syndrome ClinVar PMID:11748311 PMID:15355425 PMID:18375573 PMID:25741868 PMID:28492532 NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Takao VCF Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16085
    Pathological Conditions, Signs and Symptoms 8822
      Pathologic Processes 6194
        Chromosome Aberrations 1730
          Aneuploidy 1016
            Monosomy 919
              Chromosome Deletion 919
                chromosomal deletion syndrome 876
                  22q11 Deletion Syndrome 83
                    DiGeorge syndrome 79
                      Takao VCF Syndrome 1
paths to the root