<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0060428"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#"
     xmlns:owl="http://www.w3.org/2002/07/owl#"
     xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"
     xmlns:xsd="http://www.w3.org/2001/XMLSchema#"
     xmlns:doid="http://purl.obolibrary.org/obo/doid#"
     xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ns4="http://purl.obolibrary.org/obo/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Annotation properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasOBONamespace"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/doid#DO_rare_slim">
        <rdfs:label>DO_rare_slim</rdfs:label>
    </AnnotationProperty>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#creation_date"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Datatypes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/IDO_0000664 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/IDO_0000664">
        <rdfs:label>has material basis in</rdfs:label>
    </ObjectProperty>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Classes
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/DOID_0060388 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0060388">
        <rdfs:label xml:lang="en">chromosomal deletion syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0060428 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0060428">
        <rdfs:label xml:lang="en">SATB2-associated syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0060388"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_225"/>
        <rdfs:subClassOf>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SO_0000159"/>
                    </Restriction>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/SO_0000340"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </rdfs:subClassOf>
        <oboInOwl:hasExactSynonym xml:lang="en">2q32-q33 microdeletion syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">2q32q33 microdeletion syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MIM:612313</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:Q93.5</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ORDO:251019</oboInOwl:hasDbXref>
        <oboInOwl:creation_date>2015-10-01T15:37:11Z</oboInOwl:creation_date>
        <oboInOwl:id>DOID:0060428</oboInOwl:id>
        <oboInOwl:hasExactSynonym xml:lang="en">Glass syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">chromosome 2q32-q33 deletion syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <ns4:IAO_0000115 xml:lang="en">A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:C567350</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym xml:lang="en">monosomy 2q32</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">monosomy 2q32-q33</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">monosomy 2q32q33</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_225 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_225">
        <rdfs:label xml:lang="en">syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SO_0000159 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SO_0000159">
        <rdfs:label>deletion</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/SO_0000340 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/SO_0000340">
        <rdfs:label>chromosome</rdfs:label>
    </Class>
</rdf:RDF>



<!-- Generated by the OWL API (version 3.2.4.1806) http://owlapi.sourceforge.net -->



