This HTML5 document contains 18 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#
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_0060740

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_14749 _:vb50939290

rdfs:label

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

wdrs:describedby

n7:doid.owl

obo:id

DOID:0060740

obo:hasDbXref

ORDO:27 OMIM:251000 ICD10CM:E71.1

obo:hasExactSynonym

methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency methylmalonic aciduria mut type vitamin B12-unresponsive methylmalonic aciduria

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3.

Subject Item

_:vb50939290

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0004019

owl:someValuesFrom

n2:SO_0001537

wdrs:describedby

n7:doid.owl