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Mondo Disease Ontology
Last uploaded:
February 4, 2025
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Id | http://purl.obolibrary.org/obo/MONDO_0018923
http://purl.obolibrary.org/obo/MONDO_0018923
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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.
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Synonyms | |
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | |
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label |
22q11.2 deletion syndrome
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prefLabel |
22q11.2 deletion syndrome
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database_cross_reference |
icd11.foundation:1868156761
GARD:10299
NANDO:2200712
NANDO:1200688
DECIPHER:16
MedDRA:10012979
MedDRA:10066430
Orphanet:567
NANDO:1200339
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IAO_0000233 | |
notation |
MONDO:0018923
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in_subset |
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has_narrow_synonym |
DiGeorge sequence
DiGeorge syndrome
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has_related_synonym |
VCFS
velocardiofacial syndrome
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id |
MONDO:0018923
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excluded subClassOf | |
skos_exactMatch | |
subClassOf | |
terms_conformsTo | |
skos_closeMatch | |
type | |
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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