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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:mosaic variegated aneuploidy syndrome
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Accession:DOID:0080688 term browser browse the term
Definition:A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. (DO)
Synonyms:exact_synonym: mosaic variegated aneuploidy syndromes
 primary_id: MESH:C536987
 xref: GARD:3007;   MIM:PS257300;   ORDO:1052



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mosaic variegated aneuploidy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15475955 PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr 3:126,017,019...126,069,470 JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21552266 PMID:28553959 NCBI chr 8:10,669,588...10,689,257 JBrowse link
G Trip13 thyroid hormone receptor interactor 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553959 NCBI chr 1:29,357,093...29,402,078 JBrowse link
mosaic variegated aneuploidy syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd63 ankyrin repeat domain 63 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,675,148...105,679,970 JBrowse link
G Bahd1 bromo adjacent homology domain containing 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,891,207...105,914,414 JBrowse link
G Bmf Bcl2 modifying factor ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:125,953,466...125,974,087 JBrowse link
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B ISO
ISS
ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1
OMIM:257300
OMIM
ClinVar
MouseDO
PMID:9521327 PMID:9536098 PMID:9916837 PMID:11169558 PMID:15475955 More... NCBI chr 3:126,017,019...126,069,470 JBrowse link
G C3h15orf62 similar to human chromosome 15 open reading frame 62 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,164,179...106,167,404 JBrowse link
G Ccdc32 coiled-coil domain containing 32 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,452,293...126,464,845 JBrowse link
G Ccdc9b coiled-coil domain containing 9B ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,736,120...105,745,039 JBrowse link
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:12116237 PMID:21552266 PMID:24259107 PMID:25741868 PMID:28492532 More... NCBI chr 8:10,669,588...10,689,257 JBrowse link
G Chac1 ChaC glutathione-specific gamma-glutamylcyclotransferase 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,796,131...126,799,352 JBrowse link
G Chp1 calcineurin-like EF-hand protein 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,989,800...127,025,071 JBrowse link
G Chst14 carbohydrate sulfotransferase 14 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,370,348...126,372,405 JBrowse link
G Disp2 dispatched RND transporter family member 2 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,762,303...105,777,826 JBrowse link
G Dll4 delta like canonical Notch ligand 4 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,770,945...126,780,769 JBrowse link
G Dnajc17 DnaJ heat shock protein family (Hsp40) member C17 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,162,197...106,195,771 JBrowse link
G Eif2ak4 eukaryotic translation initiation factor 2 alpha kinase 4 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:125,810,207...125,895,574 JBrowse link
G Exd1 exonuclease 3'-5' domain containing 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,507,839...106,535,922 JBrowse link
G Fam98b family with sequence similarity 98, member B ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:104,134,803...104,164,249 JBrowse link
G Fsip1 fibrous sheath interacting protein 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,074,584...105,217,180 JBrowse link
G Gchfr GTP cyclohydrolase I feedback regulator ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,158,046...106,162,080 JBrowse link
G Gpr176 G protein-coupled receptor 176 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:125,690,750...125,791,172 JBrowse link
G Ino80 INO80 complex ATPase subunit ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,822,280...126,919,532 JBrowse link
G Itpka inositol-trisphosphate 3-kinase A ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:127,179,841...127,188,405 JBrowse link
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,851,710...105,872,144 JBrowse link
G Knl1 kinetochore scaffold 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,029,627...106,091,915 JBrowse link
G Knstrn kinetochore-localized astrin/SPAG5 binding protein ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,800,762...105,820,555 JBrowse link
G Ltk leukocyte receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:127,188,479...127,195,356 JBrowse link
G Mad1l1 mitotic arrest deficient 1 like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:25741868 NCBI chr12:14,320,892...14,630,750 JBrowse link
G Mapkbp1 mitogen activated protein kinase binding protein 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:127,401,612...127,452,152 JBrowse link
G Mga MAX dimerization protein MGA ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:127,300,558...127,396,694 JBrowse link
G Ndufaf1 NADH:ubiquinone oxidoreductase complex assembly factor 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,639,025...106,650,549 JBrowse link
G Nusap1 nucleolar and spindle associated protein 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:127,057,220...127,092,779 JBrowse link
G Oip5 Opa interacting protein 5 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:127,047,559...127,057,043 JBrowse link
G Pak6 p21 (RAC1) activated kinase 6 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,092,576...126,128,320 JBrowse link
G Phgr1 proline, histidine and glycine rich 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,742,822...105,760,835 JBrowse link
G Plcb2 phospholipase C, beta 2 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:105,683,676...105,704,384 JBrowse link
G Ppp1r14d protein phosphatase 1, regulatory (inhibitor) subunit 14D ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,205,043...106,219,290 JBrowse link
G Rad51 RAD51 recombinase ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,554,210...126,578,888 JBrowse link
G Rasgrp1 RAS guanyl releasing protein 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:124,624,039...124,684,079 JBrowse link
G Rhov ras homolog family member V ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,714,608...126,723,617 JBrowse link
G Rmdn3 regulator of microtubule dynamics 3 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,579,811...126,601,016 JBrowse link
G Rpap1 RNA polymerase II associated protein 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,746,642...106,768,182 JBrowse link
G Rpusd2 RNA pseudouridine synthase domain containing 2 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,017,759...106,023,010 JBrowse link
G Rtf1 Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,659,363...106,718,956 JBrowse link
G Spint1 serine peptidase inhibitor, Kunitz type 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:126,685,017...126,697,957 JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:124,437,230...124,504,358 JBrowse link
G Srp14 signal recognition particle 14 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:125,896,128...125,899,819 JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:125,510,250...125,525,402 JBrowse link
G Tyro3 TYRO3 protein tyrosine kinase ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:127,231,468...127,254,806 JBrowse link
G Vps18 VPS18 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,279,444...106,290,298 JBrowse link
G Zfyve19 zinc finger FYVE-type containing 19 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1 ClinVar PMID:28492532 NCBI chr 3:106,195,779...106,203,969 JBrowse link
mosaic variegated aneuploidy syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep57 centrosomal protein 57 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:12116237 PMID:16199547 PMID:17576681 PMID:21552266 More... NCBI chr 8:10,669,588...10,689,257 JBrowse link
G Mtmr2 myotubularin related protein 2 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 2 ClinVar PMID:28492532 NCBI chr 8:10,617,993...10,670,724 JBrowse link
mosaic variegated aneuploidy syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip13 thyroid hormone receptor interactor 13 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 | ClinVar Annotator: match by term: TRIP13-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:28553959 More... NCBI chr 1:29,357,093...29,402,078 JBrowse link
mosaic variegated aneuploidy syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 4 OMIM
ClinVar
PMID:34009673 NCBI chr 8:53,632,777...53,639,661 JBrowse link
Mosaic Variegated Aneuploidy Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slf2 SMC5-SMC6 complex localization factor 2 ISO ClinVar Annotator: match by term: Atelis syndrome 1 OMIM
ClinVar
PMID:36333305 NCBI chr 1:243,782,786...243,845,418 JBrowse link
Mosaic Variegated Aneuploidy Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smc5 structural maintenance of chromosomes 5 ISO ClinVar Annotator: match by term: Atelis syndrome 2 OMIM
ClinVar
PMID:36333305 NCBI chr 1:220,769,366...220,839,138 JBrowse link
mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad1l1 mitotic arrest deficient 1 like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM
ClinVar
PMID:25741868 PMID:36322655 NCBI chr12:14,320,892...14,630,750 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    syndrome 11370
      mosaic variegated aneuploidy syndrome 55
        Mosaic Variegated Aneuploidy Syndrome 5 1
        Mosaic Variegated Aneuploidy Syndrome 6 1
        mosaic variegated aneuploidy syndrome 1 50
        mosaic variegated aneuploidy syndrome 2 2
        mosaic variegated aneuploidy syndrome 3 1
        mosaic variegated aneuploidy syndrome 4 1
        mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14664
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13712
        genetic disease 13378
          chromosomal disease 3182
            mosaic variegated aneuploidy syndrome 55
              Mosaic Variegated Aneuploidy Syndrome 5 1
              Mosaic Variegated Aneuploidy Syndrome 6 1
              mosaic variegated aneuploidy syndrome 1 50
              mosaic variegated aneuploidy syndrome 2 2
              mosaic variegated aneuploidy syndrome 3 1
              mosaic variegated aneuploidy syndrome 4 1
              mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 1
paths to the root