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22q11.2 deletion syndrome

Go to external page 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 ]

Synonyms: catch 22 conotruncal anomaly face syndrome Shprintzen syndrome monosomy 22q11 Sedlackova syndrome Cayler cardiofacial syndrome 22q11DS Takao syndrome microdeletion 22q11.2

This is just here as a test because I lose it

Term information

database cross reference
  • NANDO:2200712 (https://orcid.org/0000-0003-0011-764X)
  • MedDRA:10012979 (Orphanet:567/e)
  • GARD:10299 (MONDO:GARD)
  • NANDO:1200688 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:567 (MONDO:equivalentTo)
  • MedDRA:10066430 (Orphanet:567/e)
  • icd11.foundation:1868156761 (https://orcid.org/0000-0002-4142-7153)
  • DECIPHER:16 (MONDO:equivalentTo)
  • NANDO:1200339 (https://orcid.org/0000-0003-0011-764X)
Subsets

ordo_disorder, gard_rare, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

abbreviation
VCFS [ GARD:0010299 ]

closeMatch

http://identifiers.org/meddra/10012979

http://identifiers.org/meddra/10066430

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/chromosomal_region_deletion.yaml

exactMatch

http://www.orpha.net/ORDO/Orphanet_567

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015246

has narrow synonym

DiGeorge syndrome

DiGeorge sequence

has related synonym

VCFS

velocardiofacial syndrome

id

MONDO:0018923

term tracker item

https://github.com/monarch-initiative/mondo/issues/3664

https://github.com/monarch-initiative/mondo/issues/6747