<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/DOID?iri=http://purl.obolibrary.org/obo/DOID_0070756"?>
<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:skos="http://www.w3.org/2004/02/skos/core#"
     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.w3.org/2004/02/skos/core#broadMatch"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#closeMatch"/>
    <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"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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_0060307 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0060307">
        <rdfs:label xml:lang="en">autosomal dominant intellectual developmental disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_0070756 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0070756">
        <rdfs:label xml:lang="en">neurodevelopmental disorder with variable motor and speech impairment</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0060307"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/IDO_0000664"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000147"/>
            </Restriction>
        </rdfs:subClassOf>
        <skos:exactMatch>ORDO:647788</skos:exactMatch>
        <ns4:IAO_0000115 xml:lang="en">An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, delayed or absent speech development, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DHX30 gene on chromosome 3p21.</ns4:IAO_0000115>
        <oboInOwl:id>DOID:0070756</oboInOwl:id>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2026_03_01:1363573005</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ORDO:647788</oboInOwl:hasDbXref>
        <skos:broadMatch>ICD10CM:G11.8</skos:broadMatch>
        <oboInOwl:hasDbXref>ICD10CM:G11.8</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym xml:lang="en">NEDMIAL</oboInOwl:hasExactSynonym>
        <skos:closeMatch>UMLS_CUI:C5816755</skos:closeMatch>
        <skos:closeMatch>UMLS_CUI:C5830733</skos:closeMatch>
        <oboInOwl:hasDbXref>MIM:617804</oboInOwl:hasDbXref>
        <skos:exactMatch>MIM:617804</skos:exactMatch>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/doid#DO_rare_slim"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GENO_0000147 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GENO_0000147">
        <rdfs:label>autosomal dominant inheritance</rdfs:label>
    </Class>
</rdf:RDF>



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



