WormBase Tree Display for DO_term: DOID:0070345
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| DOID:0070345 | Name | vertebral anomalies and variable endocrine and T-cell dysfunction | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | heterozygotes for TBX2 variants | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 618223 | |
| Attribute_of | Gene_by_orthology | WBGene00006543 |
