Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/22q11.2_distal_deletion_syndrome> ?p ?o }
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- 22q11.2_distal_deletion_syndrome abstract "22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).The first published description of a person with a 22q11.2 distal deletion was in 1999. There have since been hundreds of cases reported worldwide. 22q11.2 distal deletion syndrome seems to occur equally often in males and females. There are reports of people who are unaffected by carrying the deletion and only discovered it after their child was diagnosed. It seems that the 22q11.2 distal deletion can be \"silent\" and it is unknown how many people may have a silent form of this syndrome.".
- 22q11.2_distal_deletion_syndrome omim "611867".
- 22q11.2_distal_deletion_syndrome wikiPageID "39219722".
- 22q11.2_distal_deletion_syndrome wikiPageLength "6265".
- 22q11.2_distal_deletion_syndrome wikiPageOutDegree "14".
- 22q11.2_distal_deletion_syndrome wikiPageRevisionID "704235823".
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink CRKL.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Category:Autosomal_monosomies_and_deletions.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Category:Chromosomal_abnormalities.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Category:Syndromes.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Chromosome_22_(human).
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink DiGeorge_syndrome.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Intrauterine_growth_restriction.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink MAPK1.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Malignant_rhabdoid_tumour.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Mutation.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink Preterm_birth.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLink SMARCB1.
- 22q11.2_distal_deletion_syndrome wikiPageWikiLinkText "22q11.2 distal deletion syndrome".
- 22q11.2_distal_deletion_syndrome wikiPageWikiLinkText "22q11.2_distal_deletion_syndrome".
- 22q11.2_distal_deletion_syndrome caption "Schematic overview of the 22q11.2 deletion region".
- 22q11.2_distal_deletion_syndrome name "22".
- 22q11.2_distal_deletion_syndrome omim "611867".
- 22q11.2_distal_deletion_syndrome wikiPageUsesTemplate Template:Chromosomal_abnormalities.
- 22q11.2_distal_deletion_syndrome wikiPageUsesTemplate Template:Infobox_disease.
- 22q11.2_distal_deletion_syndrome wikiPageUsesTemplate Template:Reflist.
- 22q11.2_distal_deletion_syndrome subject Category:Autosomal_monosomies_and_deletions.
- 22q11.2_distal_deletion_syndrome subject Category:Chromosomal_abnormalities.
- 22q11.2_distal_deletion_syndrome subject Category:Syndromes.
- 22q11.2_distal_deletion_syndrome hypernym Condition.
- 22q11.2_distal_deletion_syndrome type Disease.
- 22q11.2_distal_deletion_syndrome type Disorder.
- 22q11.2_distal_deletion_syndrome type Syndrome.
- 22q11.2_distal_deletion_syndrome type Thing.
- 22q11.2_distal_deletion_syndrome type Q12136.
- 22q11.2_distal_deletion_syndrome comment "22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).The first published description of a person with a 22q11.2 distal deletion was in 1999. There have since been hundreds of cases reported worldwide.".
- 22q11.2_distal_deletion_syndrome label "22q11.2 distal deletion syndrome".
- 22q11.2_distal_deletion_syndrome sameAs Q17080095.
- 22q11.2_distal_deletion_syndrome sameAs m.0tkf31w.
- 22q11.2_distal_deletion_syndrome sameAs Q17080095.
- 22q11.2_distal_deletion_syndrome wasDerivedFrom 22q11.2_distal_deletion_syndrome?oldid=704235823.
- 22q11.2_distal_deletion_syndrome isPrimaryTopicOf 22q11.2_distal_deletion_syndrome.
- 22q11.2_distal_deletion_syndrome name "22q11.2 distal deletion syndrome".