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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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Brachioskeletogenital syndrome ClinVar
OMIM
PMID:27431290, PMID:29271567 NCBI chr19:2,391,181...2,551,245
Ensembl chr19:2,393,059...2,551,245
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      Elsahy-Waters syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              Elsahy-Waters syndrome 1
paths to the root

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