Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
multiple organ systems
|
| gptkbp:alsoKnownAs |
gptkb:DiGeorge_syndrome
gptkb:22q11.2_deletion_syndrome |
| gptkbp:canBeDeNovo |
true
|
| gptkbp:causedBy |
deletion on chromosome 22q11.2
|
| gptkbp:diagnosedBy |
gptkb:FISH_test
genetic testing microarray analysis |
| gptkbp:firstDescribed |
gptkb:Angelo_DiGeorge
1968 |
| gptkbp:frequency |
1 in 4000 live births
|
| https://www.w3.org/2000/01/rdf-schema#label |
velocardiofacial syndrome
|
| gptkbp:ICD-10_code |
D82.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
192430
|
| gptkbp:prevalence |
rare disease
|
| gptkbp:riskFactor |
gptkb:autism_spectrum_disorder
schizophrenia |
| gptkbp:supportersGroup |
22q Family Foundation
VCFS Educational Foundation |
| gptkbp:symptom |
distinct facial features
heart defects developmental delay learning difficulties cleft palate immune deficiency psychiatric disorders speech difficulties |
| gptkbp:treatment |
special education
speech therapy psychological support surgical intervention symptomatic management |
| gptkbp:bfsParent |
gptkb:DiGeorge_syndrome
gptkb:22q11.2_deletion_syndrome |
| gptkbp:bfsLayer |
7
|