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Namespace Prefixes

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Statements

Subject Item
n2:DOID_0111612
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050950
rdfs:label
autosomal recessive spinocerebellar ataxia 3
wdrs:describedby
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obo:id
DOID:0111612
obo:hasDbXref
ORDO:95433 UMLS_CUI:C1849094 OMIM:271250 GARD:9971 MESH:C537309
obo:hasExactSynonym
SCABD autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome autosomal recessive spinocerebellar ataxia type 3 autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome SCAR3
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21.