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ONTOLOGY REPORT - ANNOTATIONS


Term:mosaic variegated aneuploidy syndrome 2
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Accession:DOID:0080142 term browser browse the term
Definition:A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. (DO)
Synonyms:exact_synonym: MVA2
 primary_id: OMIM:614114
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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

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Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      mosaic variegated aneuploidy syndrome 3
        mosaic variegated aneuploidy syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal recessive disease 2339
                mosaic variegated aneuploidy syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.