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Namespace Prefixes

Prefix	IRI
n7	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#
n8	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_9281

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_9252

rdfs:label

phenylketonuria

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n7:doid.owl

obo:id

DOID:9281

obo:hasAlternativeId

DOID:14455

obo:hasDbXref

GARD:7383 ICD9CM:270.1 MESH:D017042 OMIM:261600 UMLS_CUI:C0085547 SNOMEDCT_US_2021_09_01:154735006 NCI:C81315 MESH:D010661 ORDO:716 SNOMEDCT_US_2021_09_01:297225000 UMLS_CUI:C0031485

obo:hasExactSynonym

PKU phenylalaninemia maternal phenylketonuria Folling's disease

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.