loading...| Preferred Name | DiGeorge syndrome | |
| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/GSSO_006995 |
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| definition |
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. |
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| Disease Ontology ID | ||
| has database cross reference | ||
| has synonym |
velocardiofacial syndrome DiGeorge's syndrome pharyngeal pouch syndrome conotruncal anomaly face syndrome Cayler cardiofacial syndrome Sedlackova syndrome Shprintzen syndrome Takao syndrome 22q11.2 deletion syndrome |
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| label |
DiGeorge syndrome |
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| MeSH Descriptor ID | ||
| NCI Thesaurus ID | ||
| prefixIRI |
GSSO:006995 |
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| prefLabel |
DiGeorge syndrome |
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| SNOMED CT Identifier | ||
| subClassOf |