This HTML5 document contains 24 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n8	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#
n5	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_14701

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0060159

rdfs:label

propionic acidemia

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n8:doid.owl

obo:id

DOID:14701

obo:hasAlternativeId

DOID:14706

obo:hasDbXref

ICD10CM:E71.121 NCI:C85030 SNOMEDCT_US_2021_09_01:69080001 UMLS_CUI:C2717876 OMIM:606054 MESH:D056693 GARD:467 UMLS_CUI:C0268579

obo:hasExactSynonym

KETOTIC HYPERGLYCINEMIA ketotic glycinemia propionic aciduria propionyl-CoA carboxylase deficiency GLYCINEMIA, KETOTIC ketotic II glycinemia

obo:hasOBONamespace

disease_ontology

obo:inSubset

n5:NCIthesaurus

n2:IAO_0000115

An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy.