Kidney Tissue Atlas Ontology

Last uploaded: March 16, 2024
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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
VCFS
velocardiofacial syndrome
Takao syndrome
catch 22
22q11DS
DiGeorge sequence
microdeletion 22q11.2
DiGeorge syndrome
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

All Properties

label
22q11.2 deletion syndrome
prefLabel
22q11.2 deletion syndrome
exactMatch
database_cross_reference
GARD:0010299
MedDRA:10012979
MedDRA:10066430
Orphanet:567
ICD10:D82.1
notation
MONDO:0018923
in_subset
has related synonym
VCFS
velocardiofacial syndrome
id
MONDO:0018923
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.
subClassOf
imported from
type
has exact synonym
Takao syndrome
catch 22
22q11DS
DiGeorge sequence
microdeletion 22q11.2
DiGeorge syndrome
Cayler cardiofacial syndrome
Sedlackova syndrome
monosomy 22q11
conotruncal anomaly face syndrome
Shprintzen syndrome
See more
See less
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