This HTML5 document contains 22 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n6	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_0111261

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050737 _:vb50944499 n2:DOID_9252

rdfs:label

fumarase deficiency

wdrs:describedby

n6:doid.owl

obo:id

DOID:0111261

obo:hasDbXref

GARD:6476 OMIM:606812 ORDO:24 UMLS_CUI:C0342770 UMLS_CUI:C2936826 SNOMEDCT_US_2021_09_01:237983002 MESH:C538191

obo:hasExactSynonym

FMRD fumaric aciduria

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43.

Subject Item

_:vb50944499

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000148

wdrs:describedby

n6:doid.owl