MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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expandbranchial arch or oral-acral syndrome (MONDO:0015334)
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expandgenetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome (MONDO:0043007)
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expandimmunodeficiency due to absence of thymus (MONDO:0018036)
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expandpartial deletion of the long arm of chromosome 22 (MONDO:0016920)
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expandPierre Robin syndrome associated with a chromosomal anomaly (MONDO:0015320)
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expandrare neurologic disease with psychiatric involvement (MONDO:0020016)
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expandrare syndrome with cardiac malformations (MONDO:0015506)
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expandsyndrome with hypoparathyroidism (MONDO:0015895)
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expandsyndromic anorectal malformation (MONDO:0015246)
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expandsyndromic renal or urinary tract malformation (MONDO:0019721)
..Starting node
..expand22q11.2 deletion syndrome ()

       Child Nodes:
........expandcongenital unilateral hypoplasia of depressor anguli oris ()
........expandDiGeorge syndrome ()
........expandvelocardiofacial syndrome ()



 Sister Nodes: 
..expand22q11.2 deletion syndrome ()
..expand8q24.3 microdeletion syndrome ()
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MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18923
Name:22q11.2 deletion syndrome
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.
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Synonyms:22q11DS; catch 22; Cayler cardiofacial syndrome; conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; microdeletion 22q11.2; monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; VCFS; velocardiofacial syndrome
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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