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Namespace Prefixes

PrefixIRI
n7https://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_0110186
rdf:type
owl:Class
rdfs:subClassOf
_:vb50942658 n2:DOID_0050541 n2:DOID_0050737
rdfs:label
Charcot-Marie-Tooth disease type 4D
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110186
obo:hasDbXref
OMIM:601455 ORDO:99950 ICD10CM:G60.0
obo:hasExactSynonym
autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D HMSNL HMSN4D Charcot-Marie-Tooth neuropathy type 4D hereditary motor and sensory neuropathy LOM type HMSN-Lom CMT4D HMSN Lom type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24.
Subject Item
_:vb50942658
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl