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Namespace Prefixes

PrefixIRI
n6https://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_0112307
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50946474 n2:DOID_9252
rdfs:label
sarcosinemia
wdrs:describedby
n6:doid.owl
obo:id
DOID:0112307
obo:hasDbXref
UMLS_CUI:C0268563 MEDDRA:10059299 GARD:158 MESH:C537236 ORDO:3129 ICD10CM:E72.59 SNOMEDCT_US_2021_09_01:64852002 OMIM:268900
obo:hasExactSynonym
SARD deficiency SARDH deficiency sarcosine dehydrogenase complex deficiency demethylation defect of N-methylglycine SARCOS
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in SARDH on chromosome 9q34.2.
Subject Item
_:vb50946474
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl