This HTML5 document contains 27 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n5	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#
n6	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_9263

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_9252 _:vb50956422

rdfs:label

homocystinuria

rdfs:comment

Xref MGI.

wdrs:describedby

n5:doid.owl

obo:id

DOID:9263

obo:hasDbXref

NCI:C84765 ORDO:394 OMIM:236250 UMLS_CUI:C0019880 MESH:D006712 OMIM:236200 GARD:10770 ICD10CM:E72.11 SNOMEDCT_US_2021_09_01:190709008

obo:hasExactSynonym

cystathionine synthase deficiency cystathionine beta synthase deficiency CBS deficiency

obo:hasOBONamespace

disease_ontology

obo:inSubset

n6:DO_rare_slim n6:NCIthesaurus

n2:IAO_0000115

An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine.

Subject Item

_:vb50956422

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0002200

owl:someValuesFrom

n2:HP_0003355

wdrs:describedby

n5:doid.owl