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Namespace Prefixes

PrefixIRI
n8https://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#
n6http://purl.obolibrary.org/obo/doid#
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_0090106
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9252 n2:DOID_0050737 _:vb50942267
rdfs:label
BH4-deficient hyperphenylalaninemia A
wdrs:describedby
n8:doid.owl
obo:id
DOID:0090106
obo:hasDbXref
MESH:C535325 UMLS_CUI:C0878676 GARD:5682 SNOMEDCT_US_2021_09_01:237914002 NCI:C138171 OMIM:261640 ORDO:13
obo:hasExactSynonym
tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency HPABH4A 6-pyruvoyl-tetrahydropterin synthase deficiency hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency PTS deficiency
obo:hasOBONamespace
disease_ontology
obo:inSubset
n6:NCIthesaurus
n2:IAO_0000115
An amino acid metabolic disorder that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1.
Subject Item
_:vb50942267
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n8:doid.owl