<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0009419"?>
<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/"
     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:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/"
     xmlns:ns3="http://purl.obolibrary.org/obo/mondo#">
    


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

    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
    <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#excluded_subClassOf"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#curated_content_resource"/>
    <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://purl.obolibrary.org/obo/mondo#clingen"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_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://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <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/25784 -->

    <Class rdf:about="http://identifiers.org/hgnc/25784">
        <rdfs:label>DCAF17</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000508 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000508">
        <rdfs:label>syndromic intellectual disability</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005015 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005015">
        <rdfs:label>diabetes mellitus</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009419 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009419">
        <rdfs:label>Woodhouse-Sakati syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015770"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018307"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0044807"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/25784"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/5588</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/5723</ns5:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/5592/woodhouse-sakati-syndrome</rdfs:seeAlso>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/woodhouse_sakati_syndrome_2</ns3:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>hypogonadism, diabetes mellitus, alopecia, mental retardation, and electrocardiographic abnormalities</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>diabetes-hypogonadism-deafness-intellectual disability syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C536742</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>extrapyramidal disorder, progressive, with primary hypogonadism, intellectual disability, and alopecia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0005592</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:237616002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1893572805</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>hypogonadism, alopecia, diabetes mellitus, intellectual disability, deafness, and extrapyramidal syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0009419</oboInOwl:id>
        <oboInOwl:hasDbXref>DOID:0112264</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:759.89</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>woodhouse-Sakati syndrome</oboInOwl:hasExactSynonym>
        <ns5:IAO_0000115>Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:241080</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Woodhouse-Sakati syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0342286</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>woodhouse Sakati syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:3464</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>hypogonadism, diabetes mellitus, alopecia, intellectual disability, and electrocardiographic abnormalities</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:83337</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1893572805"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/83337"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536742"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/237616002"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0342286"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0112264"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000508"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005015"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <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="http://www.orpha.net/ORDO/Orphanet_3464"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/241080"/>
        <ns3:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0009419"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015770 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015770">
        <rdfs:label>congenital hypogonadotropic hypogonadism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018307 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018307">
        <rdfs:label>neurodegeneration with brain iron accumulation</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0044807 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0044807">
        <rdfs:label>inherited dystonia</rdfs:label>
    </Class>
</rdf:RDF>



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



