OBO ID: DOID:14737
Term Name: craniofrontonasal syndrome Search Ontology:
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 craniofrontonasal syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
EFNB1 Craniofrontonasal dysplasia 304110
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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