<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0009950"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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/"
     xmlns:ns3="http://purl.obolibrary.org/obo/">
    


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

    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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#inSubset"/>
    <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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006506 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006506">
        <rdfs:label>congenital nonspherocytic hemolytic anemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009950 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009950">
        <rdfs:label>pyruvate kinase deficiency of red cells</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006506"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017688"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020585"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4985</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/anemia_congenital_nonspherocytic_hemolytic_2</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>GARD:0007514</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0009950</oboInOwl:id>
        <oboInOwl:hasDbXref>SCTID:124331002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C564858</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0340968</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hemolytic anaemia due to pyruvate Kinase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0111077</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:266200</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hemolytic anemia due to red cell pyruvate kinase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>pyruvate kinase deficiency of red cells</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>pyruvate kinase deficiency</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>A rare, genetic metabolic disorder due to pyruvate kinase deficiency characterized by a variable degree of chronic nonspherocytic hemolytic anemia resulting in a variable clinical manifestations ranging from fatal anemia at birth to a to a fully compensated hemolysis without apparent anemia.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>anemia, congenital, nonspherocytic hemolytic, 2, pyruvate kinase deficient</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Pyruvate Kinase Deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:766</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hemolytic anemia due to pyruvate Kinase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:1642</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C99037</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:473069</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>pyruvate kinase deficiency of erythrocytes</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hemolytic anaemia due to red cell pyruvate kinase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>PK deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200628</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>pyruvate kinase deficiency of erythrocyte</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/473069"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C564858"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/124331002"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0340968"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111077"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C99037"/>
        <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_766"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/266200"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017688 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017688">
        <rdfs:label>disorder of glycolysis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020585 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020585">
        <rdfs:label>anemia due to erythrocyte enzyme disorder</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_766 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_766">
        <rdfs:label>Hemolytic anemia due to red cell pyruvate kinase deficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



