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Namespace Prefixes

Prefix	IRI
n7	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#
n4	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

n2:DOID_905

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0080377

rdfs:label

Zellweger syndrome

rdfs:comment

OMIM mapping confirmed by DO. [LS]. OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:905

obo:hasDbXref

SNOMEDCT_US_2021_09_01:88469006 MESH:D015211 NCI:C85239 ORDO:912 GARD:7917 ICD10CM:E71.510 UMLS_CUI:C0043459

obo:hasExactSynonym

peroxisome biogenesis disorder congenital iron overload cerebrohepatorenal syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n4:NCIthesaurus n4:DO_FlyBase_slim n4:DO_rare_slim

n2:IAO_0000115

A peroxisomal biogenesis disorder that is characterized by the reduction or absence of functional peroxisomes in the cells of an individual that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.