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Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3	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#

Subject Item: n3:DOID_14723
rdf:type: owl:Class
rdfs:subClassOf: n3:DOID_0050737 _:vb50949732 _:vb50949733 _:vb50949734 n3:DOID_9252 _:vb50949730 _:vb50949731
rdfs:label: beta-ketothiolase deficiency
rdfs:comment: OMIM mapping confirmed by DO. [SN].
wdrs:describedby: n6:doid.owl
obo:id: DOID:14723
obo:hasDbXref: UMLS_CUI:C1533628 OMIM:203750 GARD:872 ORDO:134 SNOMEDCT_US_2021_09_01:238067002 MESH:C535818
obo:hasExactSynonym: 3-oxothiolase deficiency 2-methyl-3-hydroxybutyricacidemia Mitochondrial acetoacetyl-CoA Thiolase deficiency 3-ketothiolase deficiency alpha-methylacetoaceticaciduria peroxisomal thiolase deficiency
obo:hasOBONamespace: disease_ontology
n3:IAO_0000115: An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones.