About: Cayman type cerebellar ataxia

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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	Cayman type cerebellar ataxia
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060694
database_cross_reference	ICD10CM:G11.0 MESH:C563363 OMIM:601238 ORDO:94122
has_exact_synonym	Cayman cerebellar ataxia (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50939218

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