<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0013028"?>
<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: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://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/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasDbXref"/>
    <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"/>
    <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://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009637 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009637">
        <rdfs:label>inborn mitochondrial myopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0013028 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013028">
        <rdfs:label>adenosine monophosphate deaminase deficiency</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0009637"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019236"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9097</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/adenosine_monophosphate_deaminase_deficiency</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>myoadenylate deaminase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0013028</oboInOwl:id>
        <ns3:IAO_0000115>Adenosine monophosphate (AMP) deaminase deficiency is a metabolic disorder for which two forms have been described. Lack of activity of the erythrocyte isoform of AMP deaminase has been described in subjects with low plasma uric acid levels without obvious clinical relevance and will not be described further. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism with a lack of AMP deaminase activity in skeletal muscle. It is characterized by exercise-induced muscle pain, cramps and/or early fatigue.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>SCTID:9105005</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>AMP deaminase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:444140</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C538234</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:E79.2</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:45</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:550341491</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2931781</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0000547</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:277.2</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/550341491"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/444140"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C538234"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/9105005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2931781"/>
        <skos:exactMatch rdf:resource="http://purl.bioontology.org/ontology/ICD10CM/E79.2"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_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_45"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019236 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019236">
        <rdfs:label>inborn disorder of purine metabolism</rdfs:label>
    </Class>
</rdf:RDF>



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



