About: DiGeorge syndrome

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About: DiGeorge syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : wikidata:Q12136, within Data Space : prod-dbpedia.inria.fr associated with source document(s)

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rdf:type	Thing disease wikidata:Q12136
rdfs:label	22q11-deletionsyndromet (sv) DiGeorge syndrome (en) Sindrome da delezione 22q11 (it) Syndrome de délétion 22q11.2 (fr) Síndrome de DiGeorge (es) Velocardiofaciaal syndroom (nl) 迪喬治症候群 (zh)
rdfs:comment	Le syndrome de délétion 22q11.2, appelé aussi communément syndrome de DiGeorge ou syndrome vélocardiofacial, est une pathologie en rapport avec une microdélétion de la région chromosomale dite de DiGeorge (DGCR), située sur le locus 22q11 du chromosome 22, et qui entraîne la perte du gène TBX1. Les enfants porteurs de cette mutation présentent des malformations cardiaques dans 75 % des cas de type , et des anomalies de la partie supérieure de la bouche dans 70 % des cas. Ces anomalies correspondent sur le plan embryologique à une des 3e et 4e arcs branchiaux. (fr)
rdfs:seeAlso	http://emedicine.medscape.com/article/1115755 http://emedicine.medscape.com/article/135711 http://emedicine.medscape.com/article/886526 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=567 https://commons.wikimedia.org/wiki/Category:DiGeorge_syndrome https://www.britannica.com/topic/DiGeorge-syndrome https://www.jstor.org/topic/digeorge-syndrome https://omim.org/entry/188400 https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C2989 https://www.ne.se/uppslagsverk/encyklopedi/lång/digeorges-syndrom https://rarediseases.info.nih.gov/diseases/10299/index http://disease-ontology.org/term/DOID:DOID:11198 http://www.icd10data.com/ICD10CM/Codes/Find/D82.1 https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0012236 http://icd9cm.chrisendres.com/index.php?srchtype=procs&srchtext=279.11&Submit=Search&action=search http://www.diseasesdatabase.com/ddb3631.htm http://www.wikiskripta.eu/index.php?curid=4158 http://patient.info/doctor/digeorge-syndrome
sameAs	DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome DiGeorge syndrome
Wikipage page ID	1215088 (xsd:integer)
Wikipage revision ID	179850336 (xsd:integer)
dbo:wikiPageWikiLink	dbpedia-fr:Agénésie dbpedia-fr:Aménorrhée Chromosome abnormality Pharyngeal arch Biopsy dbpedia-fr:Bouche_humaine dbpedia-fr:Cardiopathie_congénitale Karyotype category-fr:Maladie_génétique dbpedia-fr:Chromosome dbpedia-fr:Chromosome_22_humain dbpedia-fr:Délétion dbpedia-fr:Embryon Cleft lip and cleft palate Parathyroid gland Gene Idiot

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