Search Ontology:
Human Disease

craniofrontonasal syndrome

Term ID
DOID:14737
Synonyms
  • CFND
  • CFNS
  • craniofrontonasal dysostosis
  • craniofrontonasal dysplasia
Definition
A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. (2)
References
Ontology
Human Disease   ( DOID:14737 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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