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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_0110155
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050539 _:vb50942595 n2:DOID_0050736
rdfs:label
Charcot-Marie-Tooth disease type 2A2A
wdrs:describedby
n5:doid.owl
obo:id
DOID:0110155
obo:hasDbXref
ORDO:99947 OMIM:609260 ICD10CM:G60.0
obo:hasExactSynonym
Charcot-Marie-Tooth neuropathy type 2A2 HMSN IIA2 hereditary motor and sensory neuropathy IIA2 HMSN2A2 autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth neuronal type 2A2 CMT2A2A
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22.
Subject Item
_:vb50942595
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n5:doid.owl