X-linked dominant disease craniofrontonasal syndrome disease_ontology CFND CFNS SNOMEDCT_US_2020_03_01:715421009 GARD:1578 OMIM:304110 OMIM mapping confirmed by DO. [SN]. UMLS_CUI:C0220767 ORDO:1520 MESH:C536456 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. DOID:14737 craniofrontonasal dysostosis craniofrontonasal dysplasia syndrome