About: nodeID://b50949743

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An Entity of Type : owl:Axiom, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Axiom
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
Type	http://purl.obolibrary.org/obo/ECO_0007636
annotatedProperty	http://purl.obolibrary.org/obo/IAO_0000115
annotatedSource	craniofrontonasal syndrome
annotatedTarget	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.
database_cross_reference	url:https://www.omim.org/entry/304110 url:https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520
is topic of	Human Disease Ontology

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