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Namespace Prefixes

PrefixIRI
n6https://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_0060868
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_10579
rdfs:label
leukoencephalopathy with vanishing white matter
wdrs:describedby
n6:doid.owl
obo:id
DOID:0060868
obo:hasDbXref
ICD10CM:E75.2 ORDO:135 GARD:231 OMIM:603896
obo:hasExactSynonym
CACH childhood ataxia with central nervous system hypomyelination Cree leukoencephalopathy vanishing white matter leukodystrophy
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood that has material_basis_in homozygous or compound heterozygous mutation in any of the 5 genes encoding subunits of the translation initiation factor EIF2B: EIF2B1 on chromosome 12q24, EIF2B2 on chromosome 14q24, EIF2B3 on chromosome 1p34, EIF2B4 on chromosome 2p23, or EIF2B5 on chromosome 3q27.