Mondo Disease Ontology

Last uploaded: February 4, 2025
Id http://purl.obolibrary.org/obo/MONDO_0018923
http://purl.obolibrary.org/obo/MONDO_0018923
Preferred Name

22q11.2 deletion 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.
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
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Type http://www.w3.org/2002/07/owl#Class
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