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Namespace Prefixes

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dc	http://purl.org/dc/elements/1.1/
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

_:vb50951331

rdf:type

owl:Axiom

wdrs:describedby

n6:doid.owl

dc:type

n4:ECO_0007645 n4:ECO_0007637

owl:annotatedProperty

n4:IAO_0000115

owl:annotatedSource

n4:DOID_2935

owl:annotatedTarget

A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy; it is that has_material_basis_in mutations in the CHS1 gene.

obo:hasDbXref

url:http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome url:https://www.ncbi.nlm.nih.gov/pubmed/25129365