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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:velocardiofacial syndrome
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Accession:DOID:12583 term browser browse the term
Definition:A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. (DO)
Synonyms:exact_synonym: CHROMOSOME 22q11.2 DELETION SYNDROME;   Shprintzen VCF syndrome;   Shprintzen syndrome;   VCF syndrome;   VCF-velocardiofacial syndrome;   VCFS;   conotruncal anomaly face syndrome/velocardiofacial syndrome;   deletion 22q11.2 syndrome;   velo cardio facial syndrome
 primary_id: OMIM:192430
 xref: ICD10CM:Q93.81;   ICD9CM:758.32
For additional species annotation, visit the Alliance of Genome Resources.



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velocardiofacial syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm3 apoptosis inducing factor, mitochondria associated 3 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,504,859...83,523,630
Ensembl chr11:83,504,861...83,521,248
JBrowse link
G Arvcf ARVCF, delta catenin family member ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,588,137...82,645,805
Ensembl chr11:82,587,881...82,645,805
JBrowse link
G Ccdc188 coiled-coil domain containing 188 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,769,735...82,772,062
Ensembl chr11:82,769,473...82,772,114
JBrowse link
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Chrd chordin ISS OMIM:192430 MouseDO NCBI chr11:80,171,994...80,181,166
Ensembl chr11:80,171,994...80,180,673
JBrowse link
G Cldn5 claudin 5 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
JBrowse link
G Comt catechol-O-methyltransferase ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
JBrowse link
G Crkl CRK like proto-oncogene, adaptor protein ISS
ISO
OMIM:192430
ClinVar Annotator: match by term: Velocardiofacial syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr11:83,528,788...83,563,214
Ensembl chr11:83,526,530...83,563,238
JBrowse link
G Dgcr2 DiGeorge syndrome critical region gene 2 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
JBrowse link
G Dgcr8 DGCR8 microprocessor complex subunit ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,704,673...82,737,251
Ensembl chr11:82,704,729...82,737,242
JBrowse link
G Ednra endothelin receptor type A ISS OMIM:192430 MouseDO NCBI chr19:30,233,540...30,303,727
Ensembl chr19:30,233,571...30,297,049
JBrowse link
G Ess2 ess-2 splicing factor homolog ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
JBrowse link
G Gnb1l G protein subunit beta 1 like ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
JBrowse link
G Gp1bb glycoprotein Ib platelet subunit beta ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
JBrowse link
G Gsc2 goosecoid homeobox 2 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
JBrowse link
G Hira histone cell cycle regulator ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
JBrowse link
G Klhl22 kelch-like family member 22 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,190,891...83,231,746
Ensembl chr11:83,190,891...83,231,770
JBrowse link
G LOC120095775 small nucleolar RNA SNORA77 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,749,967...82,750,091
Ensembl chr11:82,749,967...82,750,091
JBrowse link
G LOC498122 similar to CG15908-PA ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
JBrowse link
G Lrrc74b leucine rich repeat containing 74B ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,450,588...83,468,906
Ensembl chr11:83,450,624...83,468,922
JBrowse link
G Lztr1 leucine-zipper-like transcription regulator 1 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
JBrowse link
G Mapk1 mitogen activated protein kinase 1 ISS OMIM:192430 MouseDO NCBI chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616
JBrowse link
G Med15 mediator complex subunit 15 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,280,722...83,356,006
Ensembl chr11:83,280,762...83,355,362
JBrowse link
G Mir1306 microRNA 1306 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,709,651...82,709,723
Ensembl chr11:82,709,637...82,709,719
JBrowse link
G Mir185 microRNA 185 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,664,716...82,664,795
Ensembl chr11:82,664,716...82,664,795
JBrowse link
G Mrpl40 mitochondrial ribosomal protein L40 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
JBrowse link
G P2rx6 purinergic receptor P2X 6 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,439,922...83,450,449
Ensembl chr11:83,439,924...83,450,481
JBrowse link
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,609,136...83,726,876
Ensembl chr11:83,609,069...83,724,080
JBrowse link
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:192430 MouseDO NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
JBrowse link
G Ranbp1 RAN binding protein 1 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,742,603...82,750,836
Ensembl chr11:82,742,600...82,750,838
JBrowse link
G Rtn4r reticulon 4 receptor ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,844,585...82,869,012
Ensembl chr11:82,844,309...82,869,466
JBrowse link
G Scarf2 scavenger receptor class F, member 2 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,175,956...83,187,415
Ensembl chr11:83,175,963...83,187,348
JBrowse link
G Septin5 septin 5 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
JBrowse link
G Serpind1 serpin family D member 1 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,664,517...83,675,593
Ensembl chr11:83,664,518...83,675,519
JBrowse link
G Slc25a1 solute carrier family 25 member 1 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
JBrowse link
G Slc7a4 solute carrier family 7, member 4 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,435,093...83,439,078
Ensembl chr11:83,435,211...83,438,881
JBrowse link
G Snap29 synaptosome associated protein 29 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,578,479...83,608,953
Ensembl chr11:83,578,489...83,608,958
JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Shprintzen VCF syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome OMIM
ClinVar
RGD
PMID:11748311 PMID:15355425 PMID:16684884 PMID:17273972 PMID:18375573 More... RGD:155641243 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
JBrowse link
G Thap7 THAP domain containing 7 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,482,958...83,486,136
Ensembl chr11:83,483,037...83,486,436
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:192430 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
G Trmt2a tRNA methyltransferase 2 homolog A ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,737,689...82,742,423
Ensembl chr11:82,737,689...82,742,336
JBrowse link
G Tssk2 testis-specific serine kinase 2 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:83,086,578...83,087,933 JBrowse link
G Txnrd2 thioredoxin reductase 2 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
JBrowse link
G Ufd1 ubiquitin recognition factor in ER associated degradation 1 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
JBrowse link
G Zdhhc8 zinc finger DHHC-type palmitoyltransferase 8 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr11:82,755,110...82,769,280
Ensembl chr11:82,755,143...82,767,734
JBrowse link
G Zim1 zinc finger, imprinted 1 ISO ClinVar Annotator: match by term: Velocardiofacial syndrome ClinVar PMID:25741868 NCBI chr 1:67,132,076...67,157,843
Ensembl chr 1:67,132,147...67,153,761
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    physical disorder 4312
      congenital heart disease 1201
        22q11 Deletion Syndrome 90
          velocardiofacial syndrome 47
Path 2
Term Annotations click to browse term
  disease 18215
    Pathological Conditions, Signs and Symptoms 11356
      Pathologic Processes 7814
        Chromosome Aberrations 2342
          Aneuploidy 1586
            Monosomy 1309
              Chromosome Deletion 1309
                chromosomal deletion syndrome 1247
                  22q11 Deletion Syndrome 90
                    velocardiofacial syndrome 47
paths to the root