This HTML5 document contains 19 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n9	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#
skos	http://www.w3.org/2004/02/skos/core#
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_12704

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0050950

rdfs:label

ataxia telangiectasia

rdfs:comment

OMIM mapping confirmed by DO. [SN].

skos:exactMatch

MESH:D001260

wdrs:describedby

n9:doid.owl

obo:id

DOID:12704

obo:hasDbXref

OMIM:208900 NCI:C2887 SNOMEDCT_US_2021_09_01:68504005 GARD:5862 MESH:D001260 UMLS_CUI:C0004135

obo:hasExactSynonym

Louis Bar syndrome Boder-Sedgwick syndrome

obo:hasOBONamespace

disease_ontology

obo:inSubset

n4:DO_FlyBase_slim n4:NCIthesaurus

n2:IAO_0000115

An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22.