<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0014804"?>
<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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:obo="http://purl.obolibrary.org/obo/"
     xmlns:ns4="http://purl.obolibrary.org/obo/mondo#"
     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://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <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#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/20134 -->

    <Class rdf:about="http://identifiers.org/hgnc/20134">
        <rdfs:label>GLRX5</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0014804 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0014804">
        <rdfs:label>sideroblastic anemia 3</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0015194"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                        <someValuesFrom rdf:resource="http://identifiers.org/hgnc/20134"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016801"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016828"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/20134"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/anemia_sideroblastic_3_pyridoxine_refractory</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/autosomal_recessive_pyridoxine_refractory_sideroblastic_anemia_3</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:895975</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0017235</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>adult-onset autosomal recessive sideroblastic anemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:720465002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:255132</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0014804</oboInOwl:id>
        <oboInOwl:hasExactSynonym>anemia, sideroblastic, 3, pyridoxine-refractory</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C4225155</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SIDBA3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>GLRX5-related sideroblastic anemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0080343</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:616860</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>GLRX5-related sideroblastic anaemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>adult-onset autosomal recessive sideroblastic anaemia</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/895975"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/720465002"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4225155"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080343"/>
        <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_255132"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/616860"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015194 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015194">
        <rdfs:label>sideroblastic anemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016801 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016801">
        <rdfs:label>mitochondrial substrate carrier disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016828 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016828">
        <rdfs:label>autosomal recessive sideroblastic anemia</rdfs:label>
    </Class>
</rdf:RDF>



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



