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

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

Prefix	IRI
n6	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#
n4	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_1060

rdf:type

owl:Class

rdfs:subClassOf

_:vb50947055 n2:DOID_9252

rdfs:label

Hartnup disease

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n6:doid.owl

obo:id

DOID:1060

obo:hasDbXref

OMIM:234500 SNOMEDCT_US_2021_09_01:80902009 ICD10CM:E72.02 UMLS_CUI:C0018609 GARD:6569 NCI:C84748 MESH:D006250

obo:hasExactSynonym

Neutral 1 amino acid transport defect deficiency of tryptophan oxygenase neutral amino acid transport defect

obo:hasOBONamespace

disease_ontology

obo:inSubset

n4:NCIthesaurus

n2:IAO_0000115

An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.

Subject Item

_:vb50947055

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0002200

owl:someValuesFrom

n2:HP_0003355

wdrs:describedby

n6:doid.owl