Details of Disease

General Information of Disease (ID: DISG0CJK)

Disease Name Vertebral anomalies and variable endocrine and T-cell dysfunction
Synonyms VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION; VETD
Disease Hierarchy
DISYKSRF: Genetic disease
DISG0CJK: Vertebral anomalies and variable endocrine and T-cell dysfunction
Disease Identifiers
MONDO ID
MONDO_0032607
UMLS CUI
C4748741
OMIM ID
618223
MedGen ID
1648299

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TBX2 OTTOT7A9 Strong Autosomal dominant [1]
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References

1 Microdeletion of 17q22q23.2 encompassing TBX2 and TBX4 in a patient with congenital microcephaly, thyroid duct cyst, sensorineural hearing loss, and pulmonary hypertension. Am J Med Genet A. 2011 Feb;155A(2):418-23. doi: 10.1002/ajmg.a.33827. Epub 2011 Jan 13.