About: congenital fibrosis of the extraocular muscles 3A

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About: congenital fibrosis of the extraocular muscles 3A Goto Sponge NotDistinct Permalink

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://b50942014
label	congenital fibrosis of the extraocular muscles 3A (en)
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0081017
database_cross_reference	OMIM:600638
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942015

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