<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007797"?>
<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#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/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://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/4172 -->

    <Class rdf:about="http://identifiers.org/hgnc/4172">
        <rdfs:label>GATA3</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0003847 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0003847">
        <rdfs:label>hereditary disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007797 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007797">
        <rdfs:label>hypoparathyroidism-deafness-renal disease syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0003847"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016892"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/4172"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hypoparathyroidism_deafness_renal_disease_syndrome</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hypoparathyroidism_sensorineural_deafness_and_renal_dysplasia_syndrome</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:2237</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:724282009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:146255</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0060878</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:374443</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>The HDR syndrome is an inherited condition consisting of hypoparathyroidism, sensorineural deafness and renal disease.</ns4:IAO_0000115>
        <oboInOwl:id>MONDO:0007797</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>nephrosis, nerve deafness, and hypoparathyroidism</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>HDR syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hypoparathyroidism-deafness-renal disease syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C1840333</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hypoparathyroidism, deafness, and renal anomalies syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C537907</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C130983</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Barakat Syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Barakat syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hypoparathyroidism, sensorineural deafness, and renal dysplasia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0002911</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:837</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hypoparathyroidism, sensorineural deafness, and renal disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>HDR</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/374443"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537907"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/724282009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1840333"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060878"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C130983"/>
        <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#ordo_malformation_syndrome"/>
        <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_2237"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/146255"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0007797"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016892 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016892">
        <rdfs:label>partial deletion of the short arm of chromosome 10</rdfs:label>
    </Class>
</rdf:RDF>



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



