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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 congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that 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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Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      Warsaw breakage syndrome 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                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.