This HTML5 document contains 23 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/
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#
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

n2:DOID_0050437

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_3211 n2:DOID_0080009 _:vb50936835

rdfs:label

Danon disease

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:0050437

obo:hasDbXref

SNOMEDCT_US_2021_09_01:419097006 OMIM:300257 MESH:D052120 NCI:C84735 UMLS_CUI:C0878677 GARD:9730

obo:hasExactSynonym

ANTOPOL DISEASE PSEUDOGLYCOGENOSIS II

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene.

Subject Item

_:vb50936835

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000146

wdrs:describedby

n7:doid.owl