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Namespace Prefixes

PrefixIRI
n4https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0111340
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_225 n2:DOID_0050736 _:vb50944616 _:vb50944617 _:vb50944618 _:vb50944619
rdfs:label
dominant optic atrophy plus syndrome
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111340
obo:hasDbXref
UMLS_CUI:C3276549 GARD:5243 OMIM:125250
obo:hasExactSynonym
DOA+ optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in OPA1 on chromosome 3q29.
Subject Item
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Subject Item
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Subject Item
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