OBO ID: DOID:0080631
Term Name: Elsahy-Waters syndrome Search Ontology:
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
is a type of:
OTHER Elsahy-Waters syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CDH11 Elsahy-Waters syndrome 211380
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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