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DO Term : Elsahy-Waters syndrome [DOID:0080631] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • branchioskeletogenital syndrome,
  • 211380,
  • ORDO:1299,
  • GARD:955,
  • OMIM:211380
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents