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Echinobase
Summary Literature (0)
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: craniofrontonasal dysplasia, CFND, CFNS, craniofrontonasal dysostosis

Echinobase Genes : efnb1


MIM:
MIM:304110 - craniofrontonasal syndrome; cfns

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

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