This HTML5 document contains 27 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n8	http://purl.obolibrary.org/obo/doid#
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

n3:DOID_2935

rdf:type

owl:Class

rdfs:subClassOf

n3:DOID_225 n3:DOID_0050737 _:vb50951330

rdfs:label

Chediak-Higashi syndrome

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:2935

obo:hasDbXref

ICD10CM:E70.330 ORDO:167 SNOMEDCT_US_2021_09_01:111396008 GARD:6035 OMIM:214500 MESH:D002609 NCI:C2941 UMLS_CUI:C0007965

obo:hasExactSynonym

CHS Chediak - Steinbrinck anomaly

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:DO_FlyBase_slim n8:DO_rare_slim n8:NCIthesaurus

n3:IAO_0000115

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

Subject Item

_:vb50951330

rdf:type

owl:Restriction

owl:onProperty

n3:IDO_0000664

owl:someValuesFrom

n3:GENO_0000148

wdrs:describedby

n7:doid.owl