<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0018919"?>
<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: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://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#excluded_subClassOf"/>
    <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#hasRelatedSynonym"/>
    <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#doid_rare"/>
    <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://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


    <!-- http://purl.obolibrary.org/obo/RO_0004029 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004029">
        <rdfs:label>disease has feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/4392 -->

    <Class rdf:about="http://identifiers.org/hgnc/4392">
        <rdfs:label>GNAS</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000426 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000426">
        <rdfs:label>autosomal dominant disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </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>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015945 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015945">
        <rdfs:label>obsolete polymalformative genetic syndrome with increased risk of developing cancer</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018230 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018230">
        <rdfs:label>skeletal dysplasia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018561 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018561">
        <rdfs:label>precocious puberty in female</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018919 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018919">
        <rdfs:label>McCune-Albright syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018230"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018561"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015791"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/4392"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019289"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6751</ns5:IAO_0000233>
        <oboInOwl:id>MONDO:0018919</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:69164</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>PFD</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C0242292</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:132749439</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mccune-albright syndrome, somatic, mosaic</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MAS</oboInOwl:hasExactSynonym>
        <ns5:IAO_0000115>McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), cafe-au-lait skin spots, and precocious puberty (PP).</ns5:IAO_0000115>
        <oboInOwl:hasExactSynonym>Albright&#39;s disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>McCune Albright Syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>McCune Albright syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:174800</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200412</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:562</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0006995</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>POFD</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:726029005</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C48627</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>gonadotropin-independent female-limited sexual precocity</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:1413</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:1858</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/132749439"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/69164"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/726029005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0242292"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_1858"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000426"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015945"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019708"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C48627"/>
        <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#ncit_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_562"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/174800"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019289 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019289">
        <rdfs:label>hyperpigmentation of the skin</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019708 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019708">
        <rdfs:label>obsolete primary bone dysplasia with disorganized development of skeletal components</rdfs:label>
    </Class>
</rdf:RDF>



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



