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        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/4053 -->

    <Class rdf:about="http://identifiers.org/hgnc/4053">
        <rdfs:label>ISG15</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0014502 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0014502">
        <rdfs:label>Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency</rdfs:label>
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        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/immunodeficiency_38_with_basal_ganglia_calcification</ns3:curated_content_resource>
        <oboInOwl:hasExactSynonym>autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency caused by mutation in ISG15</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C4015293</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:319563</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0017458</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ISG15 autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0014502</oboInOwl:id>
        <oboInOwl:hasExactSynonym>MSMD due to complete ISG15 deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>immunodeficiency 38 with basal ganglia calcification</oboInOwl:hasRelatedSynonym>
        <rdfs:comment>Editor note: In ORDO classified at type 1 interferonopathy but we exclude this, as it is an autoinflammatory disease</rdfs:comment>
        <oboInOwl:hasDbXref>DOID:0111934</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:863730</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:616126</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>IMD38</oboInOwl:hasRelatedSynonym>
        <ns5:IAO_0000115>Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.</ns5:IAO_0000115>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0018782 -->

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        <rdfs:label>obsolete type 1 interferonopathy</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019146 -->

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        <rdfs:label>inherited susceptibility to mycobacterial diseases</rdfs:label>
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