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DiGeorge syndrome

Disease Summary
Associated Targets (16)
Tbio

15

Tclin

1


Mondo Description 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.
Uniprot Description A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype.
Disease Ontology Description A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production.
Mondo Term and Equivalent IDs
MONDO:0008564:  DiGeorge syndrome
ICD9:279.11: 
MESH:D004062: 
NCIT:C2989: 
SCTID:77128003: 
UMLS:CN734570: