About: craniofrontonasal syndrome

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

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	X-linked dominant disease syndrome nodeID://b50949742
label	craniofrontonasal syndrome
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:14737
database_cross_reference	GARD:1578 MESH:C536456 OMIM:304110 ORDO:1520 SNOMEDCT_US_2021_09_01:715421009 UMLS_CUI:C0220767
has_exact_synonym	CFND (en) CFNS (en) craniofrontonasal dysostosis (en) craniofrontonasal dysplasia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50949743

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