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Namespace Prefixes

Prefix	IRI
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wdrs	http://www.w3.org/2007/05/powder-s#
obo	http://www.geneontology.org/formats/oboInOwl#
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

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rdf:type

owl:Axiom

wdrs:describedby

n6:doid.owl

owl:annotatedProperty

n3:IAO_0000115

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n3:DOID_0070352

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A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speach, hearing loss, and cerebellar atrophy.

obo:hasDbXref

url:https://www.omim.org/entry/618170 url:https://www.ncbi.nlm.nih.gov/pubmed/30100084