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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0060640
rdf:type
owl:Class
rdfs:subClassOf
_:vb50939141 _:vb50939142 n2:DOID_700
rdfs:label
ethylmalonic encephalopathy
wdrs:describedby
n7:doid.owl
obo:id
DOID:0060640
obo:hasDbXref
ORDO:51188 GARD:2198 SNOMEDCT_US_2021_09_01:723307008 MESH:C535737 OMIM:602473 UMLS_CUI:C1865349
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13.
Subject Item
_:vb50939141
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000570
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50939142
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0001537
wdrs:describedby
n7:doid.owl