About: ataxia with oculomotor apraxia type 2

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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 recessive cerebellar ataxia
label	ataxia with oculomotor apraxia type 2
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050755
created_by	lschriml
creation_date	2013-01-16T01:07:02Z
database_cross_reference	OMIM:606002
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, oculomotor apraxia, cerebellar atrophy and elevated alpha-fetoprotein, has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50937536

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