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ONTOLOGY REPORT - ANNOTATIONS


Term:Elsahy-Waters syndrome
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Accession:DOID:0080631 term browser browse the term
Definition:A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. (DO)
Synonyms:exact_synonym: BSG syndrome;   Brachioskeletogenital Syndrome;   ESWS;   branchioskeletogenital syndrome;   hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss
 primary_id: MESH:C537084
 alt_id: OMIM:211380
 xref: GARD:955;   ORDO:1299
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Elsahy-Waters syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdh11 cadherin 11 JBrowse link 19 2,391,181 2,551,245 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Elsahy-Waters syndrome 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      Skin and Connective Tissue Diseases 5356
        connective tissue disease 3992
          bone disease 3456
            bone development disease 1253
              Elsahy-Waters 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.