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Namespace Prefixes

Prefix	IRI
n5	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	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#
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

n2:DOID_0060832

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0060831

rdfs:label

Griscelli syndrome type 1

wdrs:describedby

n5:doid.owl

obo:id

DOID:0060832

obo:hasDbXref

OMIM:214450 UMLS_CUI:C1859194 GARD:2566 MESH:C537301 ORDO:79476

obo:hasExactSynonym

Griscelli-Prunieras syndrome type 1 GS1 Griscelli syndrome with neurological impairment Griscelli syndrome, cutaneous and neurological type hypopigmentation-neurologic impairment syndrome

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2.