22q11.2 deletion syndrome
http://purl.obolibrary.org/obo/MONDO_0018923
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. [ Orphanet:567 ]
Term info
- DECIPHER:16 (MONDO:equivalentTo)
- MedDRA:10066430 (Orphanet:567/e)
- GARD:0010299 (MONDO:equivalentTo)
- Orphanet:567 (MONDO:equivalentTo)
- MedDRA:10012979 (Orphanet:567/e)
ordo_malformation_syndrome
https://github.com/monarch-initiative/mondo/issues/3664
http://identifiers.org/meddra/10012979, http://identifiers.org/meddra/10066430
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.
http://purl.obolibrary.org/obo/Orphanet_567
Shprintzen syndrome, catch 22, conotruncal anomaly face syndrome, monosomy 22q11, Sedlackova syndrome, 22q11DS, Cayler cardiofacial syndrome, Takao syndrome, microdeletion 22q11.2
DiGeorge syndrome, DiGeorge sequence
VCFS, velocardiofacial syndrome
MONDO:0018923
Term relations
- genetic syndromic Pierre Robin syndrome
- heart disorder
- congenital nervous system disorder
- genetic otorhinolaryngologic disease
- primary immunodeficiency due to a defect in adaptive immunity
- multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- syndromic anorectal malformation
- branchial arch or oral-acral syndrome
- chromosome 22q deletion