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Metadata
ID	DOID:0070345
Name	vertebral anomalies and variable endocrine and T-cell dysfunction
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
Xrefs	MIM:618223
Synonyms	heterozygotes for TBX2 variants [EXACT]
Parent Relationships	is_a syndrome is_a autosomal dominant disease