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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:vertebral anomalies and variable endocrine and T-cell dysfunction
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Accession:DOID:0070345 term browser browse the term
Definition:A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. (DO)
Synonyms:exact_synonym: VETD;   heterozygotes for TBX2 variants
 broad_synonym: TBX2-related condition
 primary_id: OMIM:618223
For additional species annotation, visit the Alliance of Genome Resources.



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vertebral anomalies and variable endocrine and T-cell dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx2 T-box transcription factor 2 ISO ClinVar Annotator: match by term: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
ClinVar Annotator: match by term: Vertebral anomalies and variable endocrine and T-cell dysfunction
ClinVar
OMIM
PMID:25741868 PMID:29726930 NCBI chr10:70,679,670...70,688,868
Ensembl chr10:70,679,518...70,688,529
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      vertebral anomalies and variable endocrine and T-cell dysfunction 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                vertebral anomalies and variable endocrine and T-cell dysfunction 1
paths to the root