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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 18p deletion syndrome
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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.



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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 chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
JBrowse link
G Akain1 A-kinase anchor inhibitor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:109,389,654...109,436,029
Ensembl chr 9:109,389,736...109,435,067
JBrowse link
G Ankrd12 ankyrin repeat domain 12 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,583,273...105,687,957
Ensembl chr 9:105,584,065...105,687,911
JBrowse link
G Apcdd1 APC down-regulated 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:56,385,398...56,416,065
Ensembl chr18:56,385,264...56,416,070
JBrowse link
G Arhgap28 Rho GTPase activating protein 28 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:107,832,584...107,998,030
Ensembl chr 9:107,833,330...107,998,000
JBrowse link
G Cep192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,346,957...61,458,405
Ensembl chr18:61,332,158...61,458,379
JBrowse link
G Cep76 centrosomal protein 76 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,174,514...61,208,512
Ensembl chr18:61,178,310...61,208,504
JBrowse link
G Chmp1b charged multivesicular body protein 1B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,740,349...60,742,879 JBrowse link
G Cidea cell death-inducing DFFA-like effector a ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,894,917...60,920,485
Ensembl chr18:60,894,874...60,920,481
JBrowse link
G Dlgap1 DLG associated protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:109,857,500...110,726,817
Ensembl chr 9:110,167,448...110,726,817
JBrowse link
G Emilin2 elastin microfibril interfacer 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:111,160,708...111,220,463
Ensembl chr 9:111,160,712...111,220,352
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 9:109,056,178...109,260,607
Ensembl chr 9:109,016,113...109,260,607
JBrowse link
G Fam210a family with sequence similarity 210, member A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,846,447...61,886,123
Ensembl chr18:61,852,907...61,886,171
JBrowse link
G Gnal G protein subunit alpha L ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,622,311...60,762,599
Ensembl chr18:60,622,311...60,762,599
JBrowse link
G Impa2 inositol monophosphatase 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,834,206...60,867,575
Ensembl chr18:60,834,246...60,865,641
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 9:108,295,004...108,747,879
Ensembl chr 9:108,329,669...108,747,774
JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:107,692,770...107,816,847
Ensembl chr 9:107,692,770...107,817,478
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 chr18:61,519,253...61,848,403
Ensembl chr18:61,521,428...61,843,238
JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:111,083,378...111,158,193
Ensembl chr 9:111,083,745...111,158,193
JBrowse link
G Lrrc30 leucine rich repeat containing 30 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:107,624,479...107,626,551
Ensembl chr 9:107,625,182...107,626,084
JBrowse link
G Mc2r melanocortin 2 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:62,001,980...62,015,567
Ensembl chr18:62,004,948...62,015,488
JBrowse link
G Mc5r melanocortin 5 receptor ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,915,188...61,920,229
Ensembl chr18:61,915,188...61,920,229
JBrowse link
G Mppe1 metallophosphoesterase 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,763,418...60,781,553
Ensembl chr18:60,763,419...60,781,553
JBrowse link
G Mtcl1 microtubule crosslinking factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:106,305,282...106,441,782
Ensembl chr 9:106,321,098...106,442,203
JBrowse link
G Myl12a myosin light chain 12A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,891,970...110,899,655
Ensembl chr 9:110,873,959...110,916,580
JBrowse link
G Myl12b myosin light chain 12B ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,873,855...110,888,187 JBrowse link
G Myom1 myomesin 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
JBrowse link
G Napg NSF attachment protein gamma ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:56,439,620...56,459,159
Ensembl chr18:56,440,505...56,459,153
JBrowse link
G Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,690,454...105,710,669
Ensembl chr 9:105,690,455...105,710,713
JBrowse link
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
JBrowse link
G Ppp4r1 protein phosphatase 4, regulatory subunit 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,391,271...105,450,626
Ensembl chr 9:105,391,412...105,450,633
JBrowse link
G Prelid3a PRELI domain containing 3A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,998,898...61,034,821
Ensembl chr18:61,017,764...61,031,883
JBrowse link
G Psmg2 proteasome assembly chaperone 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,208,669...61,227,671
Ensembl chr18:61,208,678...61,259,816
JBrowse link
G Ptpn2 protein tyrosine phosphatase, non-receptor type 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,229,012...61,294,662
Ensembl chr18:61,229,014...61,294,627
JBrowse link
G Ptprm protein tyrosine phosphatase, receptor type, M ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:106,639,573...107,343,698
Ensembl chr 9:106,639,573...107,343,698
JBrowse link
G Rab12 RAB12, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:106,480,301...106,506,895
Ensembl chr 9:106,480,301...106,506,910
JBrowse link
G Rab31 RAB31, member RAS oncogene family ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,246,712...105,382,973
Ensembl chr 9:105,246,709...105,381,253
JBrowse link
G Ralbp1 ralA binding protein 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,456,425...105,492,711
Ensembl chr 9:105,456,425...105,492,707
JBrowse link
G Rnmt RNA (guanine-7-) methyltransferase ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,886,230...61,909,775
Ensembl chr18:61,886,292...61,909,775
JBrowse link
G Seh1l SEH1-like nucleoporin ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835
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 9:111,243,445...111,387,272
Ensembl chr 9:111,247,702...111,349,665
JBrowse link
G Spire1 spire-type actin nucleation factor 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:61,041,290...61,171,670
Ensembl chr18:61,041,290...61,171,899
JBrowse link
G Tgif1 TGFB-induced factor homeobox 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:110,748,094...110,757,714
Ensembl chr 9:110,720,921...110,757,802
JBrowse link
G Tmem200c transmembrane protein 200C ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:108,806,063...108,811,901
Ensembl chr 9:108,805,787...108,812,226
JBrowse link
G Tubb6 tubulin, beta 6 class V ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr18:60,943,394...60,953,031
Ensembl chr18:60,943,375...60,954,418
JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,533,116...105,567,525
Ensembl chr 9:105,533,136...105,567,479
JBrowse link
G Txndc2 thioredoxin domain containing 2 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,230,575...105,235,131
Ensembl chr 9:105,230,578...105,235,126
JBrowse link
G Vapa VAMP associated protein A ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:105,177,904...105,208,400
Ensembl chr 9:105,177,907...105,207,847
JBrowse link
G Zfp161 zinc finger protein 161 ISO ClinVar Annotator: match by term: Del(18p) syndrome ClinVar PMID:31690835 NCBI chr 9:109,333,440...109,338,646
Ensembl chr 9:109,331,028...109,338,632
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      chromosomal deletion syndrome 1016
        chromosome 18p deletion syndrome 49
Path 2
Term Annotations click to browse term
  disease 17435
    Pathological Conditions, Signs and Symptoms 10360
      Pathologic Processes 6851
        Chromosome Aberrations 2051
          Aneuploidy 1329
            Monosomy 1058
              Chromosome Deletion 1058
                chromosomal deletion syndrome 1016
                  chromosome 18p deletion syndrome 49
paths to the root