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Summary Literature (2)
DOID:14737 - craniofrontonasal syndrome

Disease Ontology 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.

Synonyms: CFND, CFNS, craniofrontonasal dysostosis, craniofrontonasal dysplasia,

Xenbase Genes : efnb1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010570 - craniofrontonasal syndrome


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): X-linked monogenic disease (is_a), syndrome (is_a)