DO_rare_slim has material basis in X-linked dominant disease craniofrontonasal syndrome SNOMEDCT_US_2025_09_01:715421009 disease_ontology CFND CFNS GARD:1578 MIM:304110 OMIM mapping confirmed by DO. [SN]. UMLS_CUI:C0220767 ORDO:1520 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. MESH:C536456 DOID:14737 craniofrontonasal dysostosis craniofrontonasal dysplasia syndrome X-linked dominant inheritance