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Namespace Prefixes

PrefixIRI
n5https://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_0110205
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 _:vb50942699 n2:DOID_0050543
rdfs:label
Charcot-Marie-Tooth disease dominant intermediate E
wdrs:describedby
n5:doid.owl
obo:id
DOID:0110205
obo:hasDbXref
OMIM:614455 ICD10CM:G60.0 ORDO:93114
obo:hasExactSynonym
Charcot-Marie-Tooth disease-nephropathy syndrome Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis CMTDIE autosomal dominant intermediate Charcot-Marie-Tooth disease type E
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32.
Subject Item
_:vb50942699
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n5:doid.owl