<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0010961"?>
<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_0010961 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010961">
        <rdfs:label>obesity due to prohormone convertase I deficiency</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015770"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019182"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/proprotein_convertase_1_3_deficiency</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:318777</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0010961</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:71528</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0016689</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>PCSK1 Deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>PCI deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C563423</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0111698</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:109523</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:722053001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1833053</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:600955</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/318777"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563423"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/722053001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1833053"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111698"/>
        <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_subtype_of_a_disorder"/>
        <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_71528"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/600955"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015770 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015770">
        <rdfs:label>congenital hypogonadotropic hypogonadism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019182 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019182">
        <rdfs:label>inherited obesity</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_71528 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_71528">
        <rdfs:label>obsolete_obesity due to prohormone convertase I deficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



