<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0009865"?>
<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:ns2="http://purl.obolibrary.org/obo/mondo#"
     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#excluded_subClassOf"/>
    <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#hasRelatedSynonym"/>
    <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_0002412 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002412">
        <rdfs:label>disorder of glycogen metabolism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009865 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009865">
        <rdfs:label>glycogen storage disease due to phosphoglycerate mutase deficiency</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002412"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017688"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4985</ns4:IAO_0000233>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/glycogen_storage_disease_x</ns2:curated_content_resource>
        <oboInOwl:id>MONDO:0009865</oboInOwl:id>
        <oboInOwl:hasExactSynonym>glycogenosis due to phosphoglycerate mutase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0009964</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>myopathy due to phosphoglycerate mutase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>GSD due to phosphoglycerate mutase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>glycogen storage disease X</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:97234</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>glycogen storage disease caused by mutation in PGAM2</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:61772003</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>PGAM deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:261670</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C131647</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>glycogen storage disease type 10</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>GSD10</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>GSD type 10</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>PGAM2 glycogen storage disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>muscle phosphoglycerate mutase deficiency</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy.</ns4:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>Phosphoglycerate mutase deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C0268149</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>GSDX</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C536176</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200832</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:120613</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/120613"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536176"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/61772003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0268149"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016118"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C131647"/>
        <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_97234"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/261670"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016118 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016118">
        <rdfs:label>obsolete muscular glycogenosis</rdfs:label>
    </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://www.orpha.net/ORDO/Orphanet_97234 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_97234">
        <rdfs:label>obsolete_glycogen storage disease due to phosphoglycerate mutase deficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



