<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010663"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     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: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://purl.obolibrary.org/obo/mondo#disease_grouping"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#curated_content_resource"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome"/>
    <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#hasRelatedSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000233"/>
    <AnnotationProperty rdf:about="http://www.w3.org/2004/02/skos/core#exactMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasNarrowSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/886 -->

    <Class rdf:about="http://identifiers.org/hgnc/886">
        <rdfs:label>ATRX</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010663 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010663">
        <rdfs:label>intellectual disability-hypotonic facies syndrome, X-linked, 1</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016980"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/886"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/5061</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/intellectual_disability_hypotonic_facies_syndrome_x_linked_1</ns5:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>JMS</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:C537445</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mental retardation-hypotonic facies syndrome, X-linked, X-linked recessive</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Carpenter-Waziri syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>mental retradation, X-linked with Growth delay, deafness, microgenitalism</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>mental retardation Smith Fineman Myers type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>mental retardation-hypotonic facies syndrome X-linked, 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Chudley intellectual disability syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>mental retardation-hypotonic facies syndrome, X-linked, 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>DOID:0080982</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4759781</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:73220</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Smith-Fineman-Myers syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Chudley-Lowry syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Chudley mental retardation syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>X-linked hypogonadism gynecomastia mental retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:309580</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0003521</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Holmes-Gang syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>X-linked hypogonadism gynecomastia intellectual disability</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>mental retardation-hypotonic facies syndrome, X-linked, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>mental retardation, X-linked, with growth retardation, deafness, and microgenitalism</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>MRXHF1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Smith Fineman Myers syndrome 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:719212004</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Chudley syndrome 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:717763008</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Chudley Lowry Hoar syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasNarrowSynonym>Juberg-Marsidi syndrome</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasExactSynonym>intellectual disability-hypotonic facies syndrome, X-linked, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>X-linked intellectual disability-hypotonic face syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasNarrowSynonym>Juberg-Marsidi mental retardation syndrome</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasExactSynonym>XLMR-hypotonic facies syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:1676827</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>intellectual disability-hypotonic facies syndrome X-linked, 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Chudley-Lowry-Hoar syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:93970</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:93971</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>intellectual disability-hypotonic facies syndrome, X-linked, 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:93972</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:93973</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>SFM1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:93974</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>intellectual disability Smith Fineman Myers type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>SFMS</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010663</oboInOwl:id>
        <oboInOwl:hasNarrowSynonym>Juberg Marsidi syndrome</oboInOwl:hasNarrowSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1676827"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537445"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/717763008"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/719212004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4759781"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080982"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/309580"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016980 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016980">
        <rdfs:label>ATR-X-related syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



