|OBO ID: DOID:0070345|
|Term Name:||vertebral anomalies and variable endocrine and T-cell dysfunction||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:0070345)|
|is a type of:||
OTHER vertebral anomalies and variable endocrine and T-cell dysfunction PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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