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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_0111557
rdf:type
owl:Class
rdfs:subClassOf
_:vb50945050 n2:DOID_0050539 n2:DOID_0050737
rdfs:label
Charcot-Marie-Tooth disease type 2A2B
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111557
obo:hasDbXref
OMIM:617087 ORDO:90118
obo:hasExactSynonym
autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type CMT2A2B severe early-onset axonal neuropathy due to MFN2 deficiency Charcot-Marie-Tooth disease, axonal, type 2A2B SEOAN due to MFN2 deficiency AR-CMT2, Ouvrier type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in MFN2 on chromosome 1p36.22.
Subject Item
_:vb50945050
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n4:doid.owl