loading...| Preferred Name | DiGeorge syndrome | |
| Synonyms |
Sphrintzen Shprintzen syndrome hypoplasia of thymus and parathyroids Takao VCF syndrome third and fourth pharyngeal pouch syndrome chromosome 22Q11.2 deletion syndrome velocardiofacial syndrome Catch22 VCF velo-cardio-facial syndrome DiGeorge syndrome chromosome region pharyngeal pouch syndrome 22q11.2 Deletion syndrome 22q deletion syndrome(s) DiGeorge syndrome DiGeorge syndrome type 1 DGS1 DiGeorge's syndrome DGS DiGeorge anomaly Di-George syndrome |
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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. Also known as DiGeorge anomaly. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008564 |
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| altLabel |
Sphrintzen Shprintzen syndrome hypoplasia of thymus and parathyroids Takao VCF syndrome third and fourth pharyngeal pouch syndrome chromosome 22Q11.2 deletion syndrome velocardiofacial syndrome Catch22 VCF velo-cardio-facial syndrome DiGeorge syndrome chromosome region pharyngeal pouch syndrome 22q11.2 Deletion syndrome 22q deletion syndrome(s) DiGeorge syndrome DiGeorge syndrome type 1 DGS1 DiGeorge's syndrome DGS DiGeorge anomaly Di-George syndrome |
|
| 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. Also known as DiGeorge anomaly. |
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| has_exact_synonym |
pharyngeal pouch syndrome 22q11.2 Deletion syndrome 22q deletion syndrome(s) DiGeorge syndrome DiGeorge syndrome type 1 DGS1 DiGeorge's syndrome DGS DiGeorge anomaly Di-George syndrome |
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| has_narrow_synonym |
Sphrintzen Shprintzen syndrome |
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| has_related_synonym |
hypoplasia of thymus and parathyroids Takao VCF syndrome third and fourth pharyngeal pouch syndrome chromosome 22Q11.2 deletion syndrome velocardiofacial syndrome Catch22 VCF velo-cardio-facial syndrome DiGeorge syndrome chromosome region |
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| label |
DiGeorge syndrome |
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| prefixIRI |
MONDO:0008564 |
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| prefLabel |
DiGeorge syndrome |
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| textual 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. Also known as DiGeorge anomaly. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0001222 |