<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010619"?>
<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#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://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    <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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_from_qc_check"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0000053 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0000053">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#InverseFunctionalProperty"/>
        <rdfs:label>has characteristic</rdfs:label>
        <rdfs:label xml:lang="en">has characteristic</rdfs:label>
    </ObjectProperty>
    


    <!-- 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/8918 -->

    <Class rdf:about="http://identifiers.org/hgnc/8918">
        <rdfs:label>PHEX</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0001423 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001423">
        <rdfs:label>X-linked dominant inheritance</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000044 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000044">
        <rdfs:label>hereditary hypophosphatemic rickets</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010619 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010619">
        <rdfs:label>X-linked dominant hypophosphatemic rickets</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0000044"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0000053"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0001423"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020604"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020720"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0800096"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/8918"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/2844</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hypophosphatemic_rickets_x_linked_dominant</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:89936</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>X-linked hypophosphatemia</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasExactSynonym>X-linked hereditary hypophosphatemic rickets</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>XLH</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hypophosphatemic rickets, X-linked</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>HPDR</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>XLHR</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:307800</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hypophosphatemic rickets, X-linked dominant, X-linked dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010619</oboInOwl:id>
        <oboInOwl:hasExactSynonym>hereditary hypophosphatemic rickets, X-linked</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hypophosphatemia, X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:196551</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>hypophosphatemic vitamin D-resistant rickets</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>rickets, vitamin D-resistant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hypophophatemia, X-linked</oboInOwl:hasRelatedSynonym>
        <ns5:IAO_0000115>X-linked hypophosphatemia (XLH) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia, and diminished growth.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C0733682</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>X-linked hypophosphatemic rickets</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>DOID:0050445</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200779</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>HYP</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>hypophosphatemic rickets, X-linked dominant</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C85234</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>hypophophatemic vitamin D-resistant rickets</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>X-linked dominant hypophosphatemic rickets</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0012943</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:82236004</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>vitamin D-resistant rickets, X-linked</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/196551"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/82236004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0733682"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050445"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C85234"/>
        <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"/>
        <ns3:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_89936"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/307800"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020604 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020604">
        <rdfs:label>X-linked dominant disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020720 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020720">
        <rdfs:label>X-linked hypophosphatemic rickets</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0800096 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800096">
        <rdfs:label>abnormal mineralization disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



