SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
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rdf http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl http://www.w3.org/2002/07/owl#
xsdh http://www.w3.org/2001/XMLSchema#
Statements
Subject Item n2:DOID_0111616
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050950
rdfs:label
autosomal recessive spinocerebellar ataxia 27
wdrs:describedby
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obo:id
DOID:0111616
obo:hasDbXref
OMIM:618369
obo:hasExactSynonym
SCAR27
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in GDAP2 on chromosome 1p12.