<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010797"?>
<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://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#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.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004029 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004029">
        <rdfs:label>disease has feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/HP_0001924 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001924">
        <rdfs:label>Sideroblastic anemia</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_0010797 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010797">
        <rdfs:label>Pearson syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0001924"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/7343/pearson-syndrome</rdfs:seeAlso>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/pearson_marrow_pancreas_syndrome</ns3:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>Pearson&#39;s syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0010797</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:87459</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:237985009</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>sideroblastic Anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C0342784</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Pearson marrow-pancreas syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:557000</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Pearson syndrome is characterized by refractory sideroblastic anemia, vacuolization of bone marrow precursors and exocrine pancreatic dysfunction.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>MedDRA:10062941</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:452521132</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0060067</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0007343</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>sideroblastic anaemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly)</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C115326</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:699</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Pearson&#39;s marrow/pancreas syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>sideroblastic Anemia with marrow cell vacuolization and exocrine pancreatic dysfunction</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:277.87</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/452521132"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10062941"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/87459"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/237985009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0342784"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060067"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015134"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015188"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015895"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016792"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020099"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C115326"/>
        <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#ncit_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_699"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/557000"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015134 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015134">
        <rdfs:label>constitutional neutropenia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015188 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015188">
        <rdfs:label>obsolete metabolic disorder with intestinal involvement</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015895 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015895">
        <rdfs:label>obsolete syndrome with hypoparathyroidism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016792 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016792">
        <rdfs:label>obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020099 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020099">
        <rdfs:label>inherited sideroblastic anemia</rdfs:label>
    </Class>
</rdf:RDF>



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



