loading...| Preferred Name |
22q11.2 Deletion Syndrome |
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| 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. Also known as DiGeorge anomaly. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C2989 |
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| ALT_DEFINITION |
A group of phenotypically variable, mostly sporadic conditions caused by 1.5- to 3.0-Mb hemizygous deletions of chromosome 22q11.2. Haploinsufficiency of the TBX1 gene encoding the transcription factor T-box 1 is believed responsible for most of the physical findings. Clinical features may include cardiac anomalies, including truncus arteriosus and tetralogy of Fallot, as well as other anomalies, including micrognathia, thymic aplasia (with resultant immunodeficiency), cleft palate, and hypoparathyroidism. A congenital anomaly characterized by partial deletion of the long arm of chromosome 22. |
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| code |
C2989 |
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| Contributing_Source |
Cellosaurus ACC/AHA NICHD |
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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. Also known as DiGeorge anomaly. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C118467 http://purl.obolibrary.org/obo/NCIT_C165258 |
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| label |
22q11.2 Deletion Syndrome |
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| Legacy Concept Name |
DiGeorge_s_Syndrome |
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| Preferred_Name |
22q11.2 Deletion Syndrome |
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| prefixIRI |
NCIT:C2989 |
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| prefLabel |
22q11.2 Deletion Syndrome |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0012236 |
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| subClassOf |