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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chromosome 18q deletion syndrome
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Accession:DOID:0060407 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO)
Synonyms:exact_synonym: 18q syndrome;   chromosome 18, monosomy 18Q;   chromosome 18q syndrome;   deletion 18q;   monosomy 18q;   monosomy 18q syndrome;   monosomy 18q, deletion 18q
 primary_id: MESH:C536580
 alt_id: OMIM:601808
 xref: ORDO:1600
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
chromosome 18q deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,637,415...76,661,186
Ensembl chr18:76,637,785...76,653,056
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:77,343,551...77,535,608
Ensembl chr18:77,343,551...77,535,593
JBrowse link
G Bcl2 BCL2, apoptosis regulator ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,605,426...26,769,374
Ensembl chr13:26,605,426...26,769,374
JBrowse link
G Cbln2 cerebellin 2 precursor ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:83,775,568...83,783,841
Ensembl chr18:83,777,665...83,782,930
JBrowse link
G Cd226 CD226 molecule ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:86,299,392...86,394,772
Ensembl chr18:86,299,463...86,394,765
JBrowse link
G Cdh19 cadherin 19 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:32,344,954...32,469,887
Ensembl chr13:32,344,966...32,427,177
JBrowse link
G Cdh20 cadherin 20 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:24,630,298...24,914,463
Ensembl chr13:24,823,488...24,913,884
JBrowse link
G Cdh7 cadherin 7 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:31,081,064...31,228,884
Ensembl chr13:31,081,804...31,231,213
JBrowse link
G Cndp1 carnosine dipeptidase 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,466,717...81,512,841
Ensembl chr18:81,466,716...81,499,051
JBrowse link
G Cndp2 carnosine dipeptidase 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,521,966...81,539,065
Ensembl chr18:81,521,968...81,539,065
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,922,913...76,985,095
Ensembl chr18:76,922,934...76,984,203
JBrowse link
G Cyb5a cytochrome b5 type A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,694,818...81,726,821
Ensembl chr18:81,694,808...81,726,821
JBrowse link
G Dipk1c divergent protein kinase domain 1C ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,569,693...81,591,683
Ensembl chr18:81,569,910...81,590,887
JBrowse link
G Dok6 docking protein 6 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:86,420,361...86,878,142
Ensembl chr18:86,420,361...86,878,142
JBrowse link
G Dsel dermatan sulfate epimerase-like ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:1,942,384...1,948,563
Ensembl chr13:1,942,499...1,946,508
JBrowse link
G Fbxo15 F-box protein 15 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,785,408...81,882,796
Ensembl chr18:81,821,127...81,882,796
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,243,009...79,258,570
Ensembl chr18:79,243,009...79,258,570
JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,748,067...76,754,642
Ensembl chr18:76,748,067...76,753,902
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,808,294...76,880,742
Ensembl chr18:76,809,144...76,878,981
JBrowse link
G Kdsr 3-ketodihydrosphingosine reductase ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,779,386...26,812,271
Ensembl chr13:26,780,633...26,812,215
JBrowse link
G LOC100359752 hypothetical protein LOC100359752 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,644,346...81,683,983
Ensembl chr18:81,644,858...81,682,206
JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,326,738...79,437,310
Ensembl chr18:79,326,738...79,437,310
JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:62,612,838...62,614,725
Ensembl chr18:62,612,838...62,614,725
JBrowse link
G Neto1 neuropilin and tolloid like 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:83,471,342...83,585,043
Ensembl chr18:83,471,342...83,584,357
JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:77,203,517...77,322,690
Ensembl chr18:77,203,525...77,322,690
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,559,877...76,627,843
Ensembl chr18:76,559,811...76,628,041
JBrowse link
G Phlpp1 PH domain and leucine rich repeat protein phosphatase 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,145,989...26,394,505
Ensembl chr13:26,172,243...26,394,505
JBrowse link
G Pign phosphatidylinositol glycan anchor biosynthesis, class N ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,510,593...25,662,943
Ensembl chr13:25,513,892...25,652,473
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,704,223...76,714,387
Ensembl chr18:76,704,220...76,714,486
JBrowse link
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,656,983...25,752,792
Ensembl chr13:25,656,983...25,752,792
JBrowse link
G Rnf152 ring finger protein 152 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,183,295...25,262,785
Ensembl chr13:25,186,106...25,262,469
JBrowse link
G Rttn rotatin ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:86,071,884...86,247,486
Ensembl chr18:86,071,662...86,247,486
JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:77,572,200...77,591,710
Ensembl chr18:77,573,702...77,579,969
JBrowse link
G Serpinb10 serpin family B member 10 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,466,036...27,483,789
Ensembl chr13:27,465,930...27,483,799
JBrowse link
G Serpinb11 serpin family B member 11 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,217,385...27,257,181
Ensembl chr13:27,238,767...27,257,181
JBrowse link
G Serpinb12 serpin family B member 12 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,970,824...26,999,709
Ensembl chr13:26,970,660...26,998,357
JBrowse link
G Serpinb13 serpin family B member 13 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,032,048...27,062,620
Ensembl chr13:27,032,048...27,062,620
JBrowse link
G Serpinb2 serpin family B member 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,449,907...27,463,015
Ensembl chr13:27,449,934...27,463,010
JBrowse link
G Serpinb3 serpin family B member 3 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,186,701...27,193,211
Ensembl chr13:27,187,130...27,192,592
JBrowse link
G Serpinb3a serpin family B member 3A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,153,500...27,159,319
Ensembl chr13:27,153,925...27,158,628
JBrowse link
G Serpinb5 serpin family B member 5 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,903,052...26,923,250
Ensembl chr13:26,903,052...26,923,250
JBrowse link
G Serpinb7 serpin family B member 7 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,282,456...27,354,775
Ensembl chr13:27,312,498...27,354,052
JBrowse link
G Serpinb8 serpin family B member 8 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:27,876,662...27,914,038
Ensembl chr13:27,889,345...27,914,006
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,768,466...76,805,773
Ensembl chr18:76,770,012...76,805,766
JBrowse link
G Socs6 suppressor of cytokine signaling 6 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:85,962,729...85,981,125
Ensembl chr18:85,962,729...85,980,833
JBrowse link
G Timm21 translocase of inner mitochondrial membrane 21 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,803,165...81,807,627
Ensembl chr18:81,803,173...81,807,627
JBrowse link
G Tmx3 thioredoxin-related transmembrane protein 3 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:87,580,227...87,613,481
Ensembl chr18:87,580,424...87,610,390
JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957
JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:80,860,995...80,907,744
Ensembl chr18:80,862,372...80,865,584
JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:76,725,221...76,740,673
Ensembl chr18:76,725,247...76,740,688
JBrowse link
G Vps4b vacuolar protein sorting 4 homolog B ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:26,825,261...26,850,460
Ensembl chr13:26,825,261...26,850,460
JBrowse link
G Zadh2 zinc binding alcohol dehydrogenase, domain containing 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:80,939,875...80,949,226
Ensembl chr18:80,939,875...80,949,226
JBrowse link
G Zcchc2 zinc finger CCHC-type containing 2 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr13:25,961,762...26,052,472
Ensembl chr13:25,966,428...26,013,338
JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,447,384...79,543,271
Ensembl chr18:79,451,204...79,543,219
JBrowse link
G Zfp407 zinc finger protein 407 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:81,057,507...81,453,682
Ensembl chr18:81,057,519...81,428,971
JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: CHROMOSOME 18q DELETION SYNDROME ClinVar PMID:25741868 NCBI chr18:79,768,387...79,857,909
Ensembl chr18:79,773,608...79,854,192
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      chromosomal deletion syndrome 995
        chromosome 18q deletion syndrome 56
Path 2
Term Annotations click to browse term
  disease 17129
    Pathological Conditions, Signs and Symptoms 10189
      Pathologic Processes 6668
        Chromosome Aberrations 1858
          Aneuploidy 1140
            Monosomy 1037
              Chromosome Deletion 1037
                chromosomal deletion syndrome 995
                  chromosome 18q deletion syndrome 56
paths to the root