This HTML5 document contains 22 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#
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_0111362

rdf:type

owl:Class

rdfs:subClassOf

_:vb50944664 n2:DOID_0050736 n2:DOID_9252

rdfs:label

hawkinsinuria

wdrs:describedby

n5:doid.owl

obo:id

DOID:0111362

obo:hasDbXref

MESH:C535845 OMIM:140350 ORDO:2118 SNOMEDCT_US_2021_09_01:403001 UMLS_CUI:C2931042 GARD:5668

obo:hasExactSynonym

4-hydroxyphenylpyruvic acid dioxygenase deficiency 4-HPPD deficiency 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.

Subject Item

_:vb50944664

rdf:type

owl:Restriction

owl:onProperty

n2:IDO_0000664

owl:someValuesFrom

n2:GENO_0000147

wdrs:describedby

n5:doid.owl