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 14823
    syndrome 4218
      Mosaic Variegated Aneuploidy Syndrome 3
        mosaic variegated aneuploidy syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          chromosomal disease 601
            Mosaic Variegated Aneuploidy Syndrome 3
              mosaic variegated aneuploidy syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.