Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
gptkb:thymus
heart parathyroid glands palate |
| gptkbp:alsoKnownAs |
gptkb:22q11.2_deletion_syndrome
gptkb:velocardiofacial_syndrome |
| gptkbp:causedBy |
deletion on chromosome 22q11.2
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:Angelo_DiGeorge
1968 |
| https://www.w3.org/2000/01/rdf-schema#label |
DiGeorge syndrome
|
| gptkbp:ICD-10_code |
D82.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
188400
|
| gptkbp:prevalence |
1 in 4,000 live births
|
| gptkbp:riskFactor |
gptkb:autism_spectrum_disorder
schizophrenia autoimmune disease seizures |
| gptkbp:symptom |
congenital heart defects
developmental delay learning difficulties cleft palate immune deficiency psychiatric disorders hypocalcemia |
| gptkbp:treatment |
cardiac surgery
symptomatic management calcium supplementation immune system support |
| gptkbp:bfsParent |
gptkb:Thymus
gptkb:Tetralogy_of_Fallot gptkb:thymus |
| gptkbp:bfsLayer |
6
|