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Human Disease

vertebral anomalies and variable endocrine and T-cell dysfunction

Term ID
DOID:0070345
Synonyms
  • heterozygotes for TBX2 variants
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. https://www.ncbi.nlm.nih.gov/pubmed/29726930
References
Ontology
Human Disease   ( DOID:0070345 )
Relationships
is a type of
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Genes Involved
Zebrafish Models