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Namespace Prefixes

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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

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n3:ECO_0007636

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n3:IAO_0000115

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n3:DOID_14737

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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.

obo:hasDbXref

url:https://www.omim.org/entry/304110 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520