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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
Definition:A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. (DO)
Synonyms:exact_synonym: Instability mitotic non disjunction syndrome;   MVA syndrome;   MVA1;   chromosomal mosaicism due to mitotic instability
 primary_id: MESH:C536987
 alt_id: OMIM:257300
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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

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Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      mosaic variegated aneuploidy syndrome 3
        mosaic variegated aneuploidy syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 16017
    Developmental Diseases 9307
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8132
        genetic disease 7652
          monogenic disease 5403
            autosomal genetic disease 4361
              autosomal recessive disease 2342
                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.