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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Elsahy-Waters syndrome OMIM
ClinVar		 PMID:25741868 PMID:27431290 PMID:29271567 NCBI chr19:2,148,447...2,305,754
Ensembl chr19:2,148,458...2,304,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    syndrome 10725
      Elsahy-Waters syndrome 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      Skin and Connective Tissue Diseases 7360
        connective tissue disease 5710
          bone disease 4223
            bone development disease 2258
              Elsahy-Waters syndrome 1
paths to the root