<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0013472"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.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_0013472 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013472">
        <rdfs:label>fatal infantile hypertonic myofibrillar myopathy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018943"/>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6751</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6752</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/fatal_infantile_hypertonic_myofibrillar_myopathy</ns3:curated_content_resource>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/myopathy_myofibrillar_fatal_infantile_hypertonic_alpha_b_crystallin_related</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:280553</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0080309</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>fatal infantile hypertonic myofibrillar myopathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:1684001</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0013472</oboInOwl:id>
        <oboInOwl:hasDbXref>UMLS:C5190691</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0017296</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:613869</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1684001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C5190691"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080309"/>
        <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_280553"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/613869"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018943 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018943">
        <rdfs:label>myofibrillar myopathy</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_280553 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_280553">
        <rdfs:label>obsolete_fatal infantile hypertonic myofibrillar myopathy</rdfs:label>
    </Class>
</rdf:RDF>



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



