loading...| Preferred Name | DiGeorge syndrome | |
| Synonyms |
DGS |
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| Definitions |
(DGS) - 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. |
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| ID |
http://identifiers.org/omim/188400 |
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| altLabel |
DGS |
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| definition |
(DGS) - 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. |
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| id |
OMIM:188400 |
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| notation |
OMIM:188400 |
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| prefLabel |
DiGeorge syndrome |
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| subClassOf |