DiGeorge syndrome
A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
MONDO:0001222
congenital T-cell immunodeficiency
is_a
MONDO:0018923
22q11.2 deletion syndrome
is_a
MONDO:0021635
neurocristopathy
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:0100547
cardiogenetic disease
is_a
22q deletion syndrome(s)
broad
22q11.2 deletion syndrome
broad
DGS
exact
DGS1
exact
Di-George syndrome
exact
DiGeorge anomaly
exact
DiGeorge syndrome
exact
DiGeorge syndrome type 1
exact
DiGeorge's syndrome
exact
Shprintzen syndrome
narrow
Sphrintzen
narrow
VCF
related
pharyngeal pouch syndrome
exact