Search Ontology:
Human Disease

Elsahy-Waters syndrome

Term ID
DOID:0080631
Synonyms
  • branchioskeletogenital syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/20949527
References
Ontology
Human Disease   ( DOID:0080631 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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