ONTOLOGY REPORT - ANNOTATIONS


Term:22q11 Deletion Syndrome
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Accession:DOID:9001460 term browser browse the term
Definition:Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Synonyms:exact_synonym: 22q11 Deletion Syndromes
 primary_id: MESH:D058165
 alt_id: RDO:0005368
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22q11 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Six1 SIX homeobox 1 JBrowse link 6 95,929,060 95,934,296 RGD:11561941
DiGeorge syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 JBrowse link 8 77,640,234 77,719,488 RGD:734550
RGD:13592920
G Arvcf ARVCF, delta catenin family member JBrowse link 11 86,736,125 86,793,795 RGD:1578806
RGD:8554872
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:13592920
G Cldn5 claudin 5 JBrowse link 11 86,356,292 86,357,718 RGD:8554872
G Comt catechol-O-methyltransferase JBrowse link 11 86,715,981 86,735,630 RGD:11554173
RGD:8554872
G Crkl CRK like proto-oncogene, adaptor protein JBrowse link 11 87,338,606 87,356,644 RGD:11554173
G Dgcr2 DiGeorge syndrome critical region gene 2 JBrowse link 11 87,242,441 87,290,806 RGD:11554173
RGD:8554872
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:11554173
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:11554173
G Dicer1 dicer 1 ribonuclease III JBrowse link 6 128,388,084 128,453,234 RGD:13592920
G Dock1 dedicator of cyto-kinesis 1 JBrowse link 1 206,900,617 207,414,852 RGD:13592920
G Dvl1 dishevelled segment polarity protein 1 JBrowse link 5 173,295,948 173,308,014 RGD:1580898
G Ess2 ess-2 splicing factor homolog JBrowse link 11 87,224,371 87,234,329 RGD:11554173
RGD:8554872
G Fgf8 fibroblast growth factor 8 JBrowse link 1 265,492,949 265,498,965 RGD:11554173
G Foxn1 forkhead box N1 JBrowse link 10 65,621,142 65,634,666 RGD:13592920
G Gnb1l G protein subunit beta 1 like JBrowse link 11 86,575,229 86,655,614 RGD:8554872
G Gp1bb glycoprotein Ib platelet subunit beta JBrowse link 11 86,520,992 86,522,169 RGD:8554872
G Gsc2 goosecoid homeobox 2 JBrowse link 11 87,220,618 87,222,606 RGD:8554872
G Hira histone cell cycle regulator JBrowse link 11 86,168,196 86,276,430 RGD:8554872
G Hoxa3 homeobox A3 JBrowse link 4 82,137,802 82,181,836 RGD:13592920
G Kat6a lysine acetyltransferase 6A JBrowse link 16 73,942,669 74,020,750 RGD:9590333
RGD:13592920
G LOC102548901 protein Bop-like JBrowse link 12 6,230,524 6,231,398 RGD:8554872
G LOC498122 similar to CG15908-PA JBrowse link 11 86,299,210 86,303,453 RGD:8554872
G Mrpl40 mitochondrial ribosomal protein L40 JBrowse link 11 86,276,616 86,282,452 RGD:8554872
G Ndst1 N-deacetylase and N-sulfotransferase 1 JBrowse link 18 55,951,497 56,014,107 RGD:13592920
G Plxnd1 plexin D1 JBrowse link 4 147,854,309 147,894,170 RGD:13592920
G Prodh1 proline dehydrogenase 1 JBrowse link 11 87,058,478 87,075,785 RGD:8554872
G Sept5 septin 5 JBrowse link 11 86,516,377 86,522,169 RGD:8554872
G Slc25a1 solute carrier family 25 member 1 JBrowse link 11 87,204,248 87,207,265 RGD:8554872
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:7240710
RGD:8554872
RGD:11554173
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:13592920
G Tssk2 testis-specific serine kinase 2 JBrowse link 11 87,235,058 87,236,413 RGD:8554872
G Txnrd2 thioredoxin reductase 2 JBrowse link 11 86,667,994 86,716,063 RGD:8554872
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 JBrowse link 11 86,304,836 86,328,478 RGD:1580803
RGD:8554872
G Vegfa vascular endothelial growth factor A JBrowse link 9 17,340,341 17,355,681 RGD:13592920
G Zfp366 zinc finger protein 366 JBrowse link 2 29,410,169 29,498,661 RGD:13592920
Takao VCF Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
velocardiofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chrd chordin JBrowse link 11 83,858,503 83,867,543 RGD:13592920
G Crkl CRK like proto-oncogene, adaptor protein JBrowse link 11 87,338,606 87,356,644 RGD:13592920
G Dgcr2 DiGeorge syndrome critical region gene 2 JBrowse link 11 87,242,441 87,290,806 RGD:13592920
G Dgcr6 DiGeorge syndrome critical region gene 6 JBrowse link 11 87,076,205 87,081,306 RGD:13592920
G Dgcr8 DGCR8 microprocessor complex subunit JBrowse link 11 86,852,682 86,885,233 RGD:13592920
G Ednra endothelin receptor type A JBrowse link 19 33,928,356 33,991,703 RGD:13592920
G Ess2 ess-2 splicing factor homolog JBrowse link 11 87,224,371 87,234,329 RGD:13592920
G Mapk1 mitogen activated protein kinase 1 JBrowse link 11 88,203,863 88,273,301 RGD:13592920
G Mylk2 myosin light chain kinase 2 JBrowse link 3 148,386,185 148,397,851 RGD:8554872
G Prickle1 prickle planar cell polarity protein 1 JBrowse link 7 134,702,964 134,799,437 RGD:13592920
G Tbx1 T-box 1 JBrowse link 11 86,552,022 86,561,647 RGD:8554872
RGD:7240710
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      congenital heart disease 729
        22q11 Deletion Syndrome 43
          DiGeorge syndrome + 37
          velocardiofacial syndrome 12
Path 2
Term Annotations click to browse term
  disease 14823
    Pathological Conditions, Signs and Symptoms 7275
      Pathologic Processes 4767
        Chromosome Aberrations 519
          Aneuploidy 426
            Monosomy 381
              Chromosome Deletion 381
                chromosomal deletion syndrome 325
                  22q11 Deletion Syndrome 43
                    DiGeorge syndrome + 37
                    velocardiofacial syndrome 12
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.