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ONTOLOGY REPORT - ANNOTATIONS


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
 xref: GARD:3007;   OMIM:PS257300;   ORDO:1052
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mosaic variegated aneuploidy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:8554872
G Cep57 centrosomal protein 57 JBrowse link 8 12,335,430 12,355,425 RGD:8554872
mosaic variegated aneuploidy syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bub1b BUB1 mitotic checkpoint serine/threonine kinase B JBrowse link 3 110,367,949 110,420,471 RGD:7240710
RGD:8554872
RGD:11554173
G Cep57 centrosomal protein 57 JBrowse link 8 12,335,430 12,355,425 RGD:11554173
RGD:8554872
G Trip13 thyroid hormone receptor interactor 13 JBrowse link 1 31,967,980 32,012,923 RGD:11554173
mosaic variegated aneuploidy syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep57 centrosomal protein 57 JBrowse link 8 12,335,430 12,355,425 RGD:7240710
RGD:8554872
mosaic variegated aneuploidy syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip13 thyroid hormone receptor interactor 13 JBrowse link 1 31,967,980 32,012,923 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      mosaic variegated aneuploidy syndrome 3
        mosaic variegated aneuploidy syndrome 1 3
        mosaic variegated aneuploidy syndrome 2 1
        mosaic variegated aneuploidy syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        genetic disease 7688
          chromosomal disease 1590
            mosaic variegated aneuploidy syndrome 3
              mosaic variegated aneuploidy syndrome 1 3
              mosaic variegated aneuploidy syndrome 2 1
              mosaic variegated aneuploidy syndrome 3 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.