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Elsahy-Waters Syndrome

Disease ID: disease_node_20298

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DbxrefGARD:955, MIM:211380, ORDO:1299
SubclassofDOID_225
Data SourceDOID
Synonymsbranchioskeletogenital syndrome
Doid LabelElsahy-Waters syndrome
Doid DescriptionA 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.
Has SymptomSYMP_0000369
Disease Node Iddisease_node_20298
Doid IdDOID_0080631
LabelElsahy-Waters Syndrome