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ONTOLOGY REPORT - ANNOTATIONS


Term:mosaic variegated aneuploidy syndrome 1
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Accession:DOID:0080141 term browser browse the term
Synonyms:exact_synonym: Chromosomal mosaicism due to mitotic instability;   Instability mitotic non disjunction syndrome;   MVA Syndrome;   MVA1;   Mosaic variegated aneuploidy syndrome
 primary_id: MESH:C536987
 alt_id: OMIM:257300;   RDO:0002722
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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Mosaic Variegated Aneuploidy Syndrome 3
        mosaic variegated aneuploidy syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                mosaic variegated aneuploidy syndrome 1 3
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.