About: congenital fibrosis of the extraocular muscles 1

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

Attributes	Values
type	Class
subClassOf	autosomal dominant disease congenital fibrosis of the extraocular muscles nodeID://b50942010
label	congenital fibrosis of the extraocular muscles 1 (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0081015
database_cross_reference	OMIM:135700
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942011

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