About: spinocerebellar ataxia type 1 with axonal neuropathy

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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 disease nervous system disease nodeID://b50942284
label	spinocerebellar ataxia type 1 with axonal neuropathy
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0090115
database_cross_reference	GARD:10000 ICD10CM:G60.2 OMIM:607250 ORDO:94124
has_exact_synonym	autosomal recessive spinocerebellar ataxia with axonal neuropathy (en) SCAN1 (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942285

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