ONTOLOGY REPORT - ANNOTATIONS


Term:Warsaw breakage syndrome
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Accession:DOID:0060535 term browser browse the term
Definition:A syndrome mainly characterized by severe growth retardation and microcephaly. It is a new form of cohesinopathy showing defects in sister chromatid cohesion and hypersensitivity to chemicals that induce replication stress, thus combining distinct cytogenetic features seen in Roberts syndrome and Fanconi anemia, respectively. It has material basis in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO)
Synonyms:exact_synonym: WABS
 primary_id: OMIM:613398
 alt_id: RDO:0009861
 xref: ORDO:280558
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Warsaw breakage syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx11 DEAD/H-box helicase 11 JBrowse link 9 114,113,642 114,133,908 RGD:7240710
RGD:8554872

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  disease 14875
    syndrome 4220
      Warsaw breakage syndrome 1
Path 2
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  disease 14875
    Pathological Conditions, Signs and Symptoms 7362
      Pathologic Processes 4865
        Chromosome Aberrations 519
          Chromosome Breakage 16
            Warsaw breakage syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.