Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Disease ID: disease_node_20141
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:618223 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | heterozygotes for TBX2 variants |
| Doid Label | vertebral anomalies and variable endocrine and T-cell dysfunction |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20141 |
| Doid Id | DOID_0070345 |
| Label | Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)