|
General Information
|
| Term |
vertebral anomalies and variable endocrine and T-cell dysfunction |
ID (Ontology) |
DOID:0070345 (Human Disease) |
| 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. |
| Also Known As |
"heterozygotes for TBX2 variants" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Genes | Human Disease Models |
|---|
vertebral anomalies and variable endocrine and T-cell dysfunction | 1 | 1 | for disease ribbon | vertebral anomalies and variable endocrine and T-cell dysfunction | 1 | -- | model of | vertebral anomalies and variable endocrine and T-cell dysfunction | 1 | -- |
|
Relationships