loading...| Preferred Name | 22q11.2 deletion syndrome | |
| Synonyms |
DiGeorge sequence DiGeorge syndrome velocardiofacial syndrome VCFS conotruncal anomaly face syndrome Sedlackova syndrome Shprintzen syndrome Cayler cardiofacial syndrome microdeletion 22q11.2 Takao syndrome monosomy 22q11 22q11DS catch 22 |
|
| 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 |
|
| database_cross_reference |
DECIPHER:16 Orphanet:567 NANDO:1200339 NANDO:1200688 icd11.foundation:1868156761 MedDRA:10012979 NANDO:2200712 MedDRA:10066430 GARD:10299 |
|
| 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 |
conotruncal anomaly face syndrome Sedlackova syndrome Shprintzen syndrome Cayler cardiofacial syndrome microdeletion 22q11.2 Takao syndrome monosomy 22q11 22q11DS catch 22 |
|
| has_narrow_synonym |
DiGeorge sequence DiGeorge syndrome |
|
| has_related_synonym |
velocardiofacial syndrome VCFS |
|
| IAO_0000233 | ||
| id |
MONDO:0018923 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
22q11.2 deletion syndrome |
|
| notation |
MONDO:0018923 |
|
| preferred label |
22q11.2 deletion syndrome |
|
| prefLabel |
22q11.2 deletion syndrome |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_567 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1868156761 |
|
| subClassOf |
http://www.ebi.ac.uk/efo/EFO_0000540 http://purl.obolibrary.org/obo/MONDO_0022760 http://purl.obolibrary.org/obo/MONDO_0002320 |
|
| excluded_subClassOf |