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
Accession: DOID:0060407
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
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Adnp2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484
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Atp9b
ATPase phospholipid transporting 9B (putative)
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953
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Bcl2
BCL2, apoptosis regulator
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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C18h18orf63
similar to human chromosome 18 open reading frame 63
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:78,159,334...78,202,317
Ensembl chr18:78,164,661...78,202,326
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Cbln2
cerebellin 2 precursor
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:79,940,412...79,948,766
Ensembl chr18:79,942,590...79,947,855
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Cd226
CD226 molecule
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:82,449,924...82,545,107
Ensembl chr18:82,450,568...82,543,051
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Cdh19
cadherin 19
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:27,935,915...28,047,490
Ensembl chr13:27,936,668...28,019,310
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Cdh20
cadherin 20
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:20,737,640...21,069,746
Ensembl chr13:20,738,081...21,068,676
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Cdh7
cadherin 7
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:26,672,058...26,821,571
Ensembl chr13:26,672,484...26,819,846
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Cndp1
carnosine dipeptidase 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:77,984,886...78,030,837
Ensembl chr18:77,984,907...78,007,765
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Cndp2
carnosine dipeptidase 2
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:78,039,924...78,057,030
Ensembl chr18:78,039,932...78,056,922
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Ctdp1
CTD phosphatase subunit 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457
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Cyb5a
cytochrome b5 type A
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:78,213,067...78,245,677
Ensembl chr18:78,202,342...78,258,535 Ensembl chr18:78,202,342...78,258,535
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Dipk1c
divergent protein kinase domain 1C
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:78,087,972...78,109,910
Ensembl chr18:78,087,991...78,109,904
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Dok6
docking protein 6
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:82,572,762...83,015,951
Ensembl chr18:82,572,762...83,015,951
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Dsel
dermatan sulfate epimerase-like
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:186,413...192,592
Ensembl chr13:175,805...192,647
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Fbxo15
F-box protein 15
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:78,319,577...78,634,695
Ensembl chr18:78,319,534...78,390,765
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Galr1
galanin receptor 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577
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Hsbp1l1
heat shock factor binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045
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Kcng2
potassium voltage-gated channel modifier subfamily G member 2
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723
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Kdsr
3-ketodihydrosphingosine reductase
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:22,862,117...22,894,118
Ensembl chr13:22,862,117...22,894,108
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Mbp
myelin basic protein
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
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Mc4r
melanocortin 4 receptor
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868
NCBI chr18:60,419,832...60,421,719
Ensembl chr18:60,419,832...60,421,719
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Neto1
neuropilin and tolloid like 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:79,635,633...79,753,913
Ensembl chr18:79,635,633...79,749,030
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Nfatc1
nuclear factor of activated T-cells 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028
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Pard6g
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029
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Phlpp1
PH domain and leucine rich repeat protein phosphatase 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:22,308,532...22,530,978
Ensembl chr13:22,308,548...22,530,977
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Pign
phosphatidylinositol glycan anchor biosynthesis, class N
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:21,659,092...21,812,932
Ensembl chr13:21,662,455...21,806,790
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Ptgr3
prostaglandin reductase 3
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:77,454,435...77,463,785
Ensembl chr18:77,454,435...77,463,785
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Rbfa
ribosome binding factor A
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915
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Relch
RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:21,806,972...21,902,807
Ensembl chr13:21,806,972...21,902,807
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Rnf152
ring finger protein 152
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:21,324,039...21,403,405
Ensembl chr13:21,323,824...21,403,113
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Rttn
rotatin
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:82,220,999...82,398,334
Ensembl chr18:82,221,050...82,398,333
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Sall3
spalt-like transcription factor 3
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789
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Serpinb10
serpin family B member 10
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,553,348...23,571,182
Ensembl chr13:23,553,430...23,571,182
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Serpinb11
serpin family B member 11
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,304,775...23,344,604
Ensembl chr13:23,304,456...23,344,604
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Serpinb12
serpin family B member 12
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,052,384...23,083,691
Ensembl chr13:23,052,448...23,083,691
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Serpinb13
serpin family B member 13
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,118,582...23,150,352
Ensembl chr13:23,118,584...23,150,760
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Serpinb2
serpin family B member 2
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,537,312...23,551,823
Ensembl chr13:23,541,400...23,550,408
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Serpinb3
serpin family B member 3
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,274,120...23,280,660
Ensembl chr13:23,274,484...23,313,682
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Serpinb3a
serpin family B member 3A
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,241,303...23,246,328
Ensembl chr13:23,236,972...23,246,985
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Serpinb5
serpin family B member 5
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:22,985,557...23,005,756
Ensembl chr13:22,985,557...23,005,756
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Serpinb7
serpin family B member 7
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,369,830...23,442,205
Ensembl chr13:23,395,671...23,442,205
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Serpinb8
serpin family B member 8
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:23,626,936...23,650,277
Ensembl chr13:23,626,945...23,650,835
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Slc66a2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676
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Socs6
suppressor of cytokine signaling 6
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:82,111,866...82,139,193
Ensembl chr18:82,111,827...82,139,219
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Timm21
translocase of inner mitochondrial membrane 21
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:78,314,900...78,319,362
Ensembl chr18:78,314,909...78,319,454
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Tmx3
thioredoxin-related transmembrane protein 3
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:83,731,777...83,764,719
Ensembl chr18:83,731,868...83,762,263
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Tnfrsf11a
TNF receptor superfamily member 11A
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695
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Tshz1
teashirt zinc finger homeobox 1
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:77,376,399...77,452,815
Ensembl chr18:77,377,394...77,453,509
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Txnl4a
thioredoxin-like 4A
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893
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Vps4b
vacuolar protein sorting 4 homolog B
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:22,907,105...22,932,200
Ensembl chr13:22,907,109...22,932,229
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Zcchc2
zinc finger CCHC-type containing 2
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr13:22,118,677...22,193,626
Ensembl chr13:22,119,568...22,166,373
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Zfp236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737
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Zfp407
zinc finger protein 407
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:77,571,140...77,970,282
Ensembl chr18:77,571,204...77,974,129
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Zfp516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: Monosomy 18q, deletion 18q
ClinVar
PMID:25741868 PMID:31690835
NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269
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