Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
syndrome |
| gptkbp:affects |
multiple organ systems
|
| gptkbp:alsoKnownAs |
gptkb:DiGeorge_syndrome
gptkb:22q11.2_deletion_syndrome |
| gptkbp:causedBy |
deletion on chromosome 22q11.2
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:discoveredBy |
gptkb:Angelo_DiGeorge
|
| gptkbp:firstDescribed |
1968
|
| https://www.w3.org/2000/01/rdf-schema#label |
Velo-cardio-facial syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
192430
|
| gptkbp:prevalence |
1 in 4,000 live births
|
| gptkbp:riskFactor |
gptkb:depression
gptkb:attention_deficit_hyperactivity_disorder gptkb:anemia gptkb:autism_spectrum_disorder gptkb:obsessive-compulsive_disorder autoimmune disorders bipolar disorder hearing impairment schizophrenia sleep disorders scoliosis vision problems hearing loss seizures recurrent infections anxiety disorders gastrointestinal problems dental anomalies feeding problems growth hormone deficiency kidney abnormalities thyroid problems |
| gptkbp:symptom |
distinct facial features
heart defects developmental delay feeding difficulties learning difficulties cleft palate psychiatric disorders hypocalcemia speech difficulties immune system problems |
| gptkbp:treatment |
special education
speech therapy psychiatric care surgical intervention symptomatic management |
| gptkbp:bfsParent |
gptkb:Quinn_Bradlee
|
| gptkbp:bfsLayer |
6
|