loading...| Preferred Name | 22q11.2 deletion syndrome | |
| Synonyms |
DiGeorge sequence DiGeorge syndrome VCFS velocardiofacial syndrome Takao syndrome catch 22 22q11DS microdeletion 22q11.2 Cayler cardiofacial syndrome Sedlackova syndrome monosomy 22q11 conotruncal anomaly face syndrome Shprintzen syndrome |
|
| Definitions |
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018923 |
|
| altLabel |
DiGeorge sequence DiGeorge syndrome VCFS velocardiofacial syndrome Takao syndrome catch 22 22q11DS microdeletion 22q11.2 Cayler cardiofacial syndrome Sedlackova syndrome monosomy 22q11 conotruncal anomaly face syndrome Shprintzen syndrome |
|
| definition |
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. |
|
| has_exact_synonym |
Takao syndrome catch 22 22q11DS microdeletion 22q11.2 Cayler cardiofacial syndrome Sedlackova syndrome monosomy 22q11 conotruncal anomaly face syndrome Shprintzen syndrome |
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| has_narrow_synonym |
DiGeorge sequence DiGeorge syndrome |
|
| has_related_synonym |
VCFS velocardiofacial syndrome |
|
| IAO_0000233 | ||
| label |
22q11.2 deletion syndrome |
|
| prefixIRI |
MONDO:0018923 |
|
| prefLabel |
22q11.2 deletion syndrome |
|
| textual definition |
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015334 http://purl.obolibrary.org/obo/MONDO_0005267 http://purl.obolibrary.org/obo/MONDO_0015823 http://purl.obolibrary.org/obo/MONDO_0022760 http://purl.obolibrary.org/obo/MONDO_0015246 http://purl.obolibrary.org/obo/MONDO_0018187 http://purl.obolibrary.org/obo/MONDO_0002320 |