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Disease Ontology Browser
craniofrontonasal syndrome (DOID:14737)
Alliance: disease page
Synonyms: CFND; CFNS; craniofrontonasal dysostosis; craniofrontonasal dysplasia
Alt IDs: OMIM:304110, MESH:C536456, ORDO:1520, UMLS_CUI:C0220767
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory