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gptkbp:instanceOf
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gptkb: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
|
|
gptkbp:ICD-10_code
|
D82.1
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:OMIM
|
188400
|
|
gptkbp:prevalence
|
1 in 4,000 live births
|
|
gptkbp:riskFactor
|
gptkb:autoimmune_disease
gptkb:autism_spectrum_disorder
schizophrenia
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:neural_crest_cells
gptkb:Tetralogy_of_Fallot
gptkb:thymus
gptkb:tetralogy_of_Fallot
|
|
gptkbp:bfsLayer
|
7
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DiGeorge syndrome
|