Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 18p deletion syndrome
go back to main search page
Accession:DOID:0060406 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO)
Synonyms:exact_synonym: 18p deletion syndrome;   18p minus syndrome;   18p- syndrome;   De Grouchy syndrome;   Del(18p) syndrome;   monosomy 18p
 primary_id: MESH:C538309
 alt_id: OMIM:146390
 xref: GARD:8631;   NCI:C84521;   ORDO:1598
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
chromosome 18p deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Akain1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:117,794,417...117,841,931
Ensembl chr 9:117,795,132...117,842,270
JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,605,683...113,682,482
Ensembl chr 9:113,605,657...113,682,482
JBrowse link
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:58,270,398...58,300,982
Ensembl chr18:58,270,410...58,301,002
JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:116,057,229...116,222,440
Ensembl chr 9:116,058,610...116,222,440
JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,572,084...63,656,302
Ensembl chr18:63,524,452...63,656,286
JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,364,990...63,394,766
Ensembl chr18:63,359,832...63,394,766
JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,923,620...62,926,150 JBrowse link
G Cidea cell death-inducing DFFA-like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,082,861...63,108,450
Ensembl chr18:63,098,144...63,108,051
JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:118,277,046...119,159,807
Ensembl chr 9:118,586,179...119,158,196
JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:119,594,049...119,653,675
Ensembl chr 9:119,594,629...119,653,255
JBrowse link
G Epb41l3 erythrocyte membrane protein band 4.1-like 3 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:117,314,935...117,666,408
Ensembl chr 9:117,538,009...117,666,410
JBrowse link
G Fam210a family with sequence similarity 210, member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:64,045,023...64,084,594
Ensembl chr18:64,045,432...64,084,556
JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,805,406...62,946,133
Ensembl chr18:62,805,410...62,944,630
JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,016,577...63,050,123
Ensembl chr18:63,016,577...63,047,781
JBrowse link
G L3mbtl4 L3MBTL histone methyl-lysine binding protein 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:116,709,302...116,983,017 JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:115,916,907...116,042,123
Ensembl chr 9:115,916,907...116,042,123
JBrowse link
G Ldlrad4 low density lipoprotein receptor class A domain containing 4 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,717,423...64,045,224
Ensembl chr18:63,882,610...64,044,023
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:119,517,101...119,591,533
Ensembl chr 9:119,517,101...119,591,533
JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:115,849,029...115,854,043
Ensembl chr 9:115,849,732...115,850,634
JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:64,166,959...64,178,729
Ensembl chr18:64,167,191...64,177,729
JBrowse link
G Mc5r melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:64,113,659...64,118,700
Ensembl chr18:64,114,933...64,116,524
JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,946,952...62,966,174
Ensembl chr18:62,946,953...62,965,538
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:114,493,901...114,632,632
Ensembl chr 9:114,491,419...114,619,711
JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:119,325,282...119,333,012
Ensembl chr 9:119,325,283...119,332,967
JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:119,307,168...119,321,500
Ensembl chr 9:119,307,176...119,321,500
JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:119,353,840...119,469,196
Ensembl chr 9:119,353,840...119,468,715
JBrowse link
G Napg NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:58,325,319...58,344,071
Ensembl chr18:58,325,319...58,344,070
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,875,718...113,900,169
Ensembl chr 9:113,875,703...113,900,190
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:58,353,361...58,728,555
Ensembl chr18:58,354,648...58,499,836
JBrowse link
G Ppp4r1 protein phosphatase 4, regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,515,312...113,573,308
Ensembl chr 9:113,534,326...113,573,307
JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,202,601...63,220,135
Ensembl chr18:63,203,063...63,216,410
JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,394,991...63,420,491
Ensembl chr18:63,394,900...63,409,600
JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,415,298...63,489,240
Ensembl chr18:63,415,306...63,488,027
JBrowse link
G Ptprm protein tyrosine phosphatase, receptor type, M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:114,846,095...115,555,261
Ensembl chr 9:114,846,095...115,555,261
JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:114,683,985...114,709,613
Ensembl chr 9:114,684,039...114,709,546
JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,370,072...113,504,606
Ensembl chr 9:113,370,033...113,504,605
JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,579,107...113,598,477
Ensembl chr 9:113,579,107...113,598,480
JBrowse link
G Rnmt RNA (guanine-7-) methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:64,084,746...64,108,246
Ensembl chr18:64,084,795...64,108,246
JBrowse link
G Seh1l SEH1-like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,545,150...63,568,101 JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:119,675,750...119,818,620
Ensembl chr 9:119,676,628...119,818,310
JBrowse link
G Spire1 spire-type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,226,557...63,357,420
Ensembl chr18:63,226,557...63,357,298
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:119,181,079...119,190,698
Ensembl chr 9:119,181,083...119,190,698
JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:117,044,533...117,050,371
Ensembl chr 9:117,044,533...117,050,371
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:63,130,542...63,140,181
Ensembl chr18:63,130,542...63,140,181
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,699,151...113,732,601
Ensembl chr 9:113,699,170...113,732,622
JBrowse link
G Txndc2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,354,047...113,358,558
Ensembl chr 9:113,354,053...113,358,526
JBrowse link
G Vapa VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:113,300,831...113,331,872
Ensembl chr 9:113,300,832...113,331,319
JBrowse link
G Zfp161 zinc finger protein 161 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:117,739,067...117,744,273
Ensembl chr 9:117,737,611...117,744,300
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      chromosomal deletion syndrome 995
        chromosome 18p deletion syndrome 49
Path 2
Term Annotations click to browse term
  disease 17126
    Pathological Conditions, Signs and Symptoms 10186
      Pathologic Processes 6666
        Chromosome Aberrations 1857
          Aneuploidy 1140
            Monosomy 1037
              Chromosome Deletion 1037
                chromosomal deletion syndrome 995
                  chromosome 18p deletion syndrome 49
paths to the root