<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0008303"?>
<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://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.w3.org/2004/02/skos/core#closeMatch"/>
    <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"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0003847 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0003847">
        <rdfs:label>hereditary disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008303 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008303">
        <rdfs:label>familial male-limited precocious puberty</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0003847"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015791"/>
        <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/precocious_puberty_male_limited</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>MedDRA:10063654</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004475</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10063656</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>peripheral precocious puberty caused by mutation in LHCGR</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:87444</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>precocious puberty, male</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>testotoxicosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>FMPP</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>testotoxicosis, familial</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0111545</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>familial Testotoxicosis (subtype)</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>familial gonadotropin-independent male-limited sexual precocity</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0008303</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:3000</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>male-limited precocious puberty</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:237818003</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:176410</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>LHCGR peripheral precocious puberty</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>pubertas praecox</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>UMLS:C0342549</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>leydig cell adenoma, somatic, with precocious puberty</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>precocious puberty, male limited</oboInOwl:hasRelatedSynonym>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10063654"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10063656"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/87444"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/237818003"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0342549"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111545"/>
        <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_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_3000"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/176410"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015791 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015791">
        <rdfs:label>peripheral precocious puberty</rdfs:label>
    </Class>
</rdf:RDF>



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



