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RGD uses the Human Disease Ontology (DO, 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.

show annotations for term's descendants           Sort by:
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 16108
    syndrome 6992
      Takao VCF Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Chromosome Aberrations 1720
          Aneuploidy 1004
            Monosomy 909
              Chromosome Deletion 909
                chromosomal deletion syndrome 867
                  22q11 Deletion Syndrome 83
                    DiGeorge syndrome 79
                      Takao VCF Syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.