Term:Warsaw breakage syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Warsaw breakage syndrome 1
Path 2
Term Annotations click to browse term
  disease 14875
    Pathological Conditions, Signs and Symptoms 7362
      Pathologic Processes 4865
        Chromosome Aberrations 519
          Chromosome Breakage 16
            Warsaw breakage syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.