<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0044315"?>
<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#omim_susceptibility"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_subClassOf"/>
    <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#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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/mondo#predisposes_towards -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#predisposes_towards">
        <rdfs:label>predisposes towards</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015469 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015469">
        <rdfs:label>craniosynostosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020573 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020573">
        <rdfs:label>inherited disease susceptibility</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0044315 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0044315">
        <rdfs:label>craniosynostosis 7</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020573"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0700324"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#predisposes_towards"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015469"/>
            </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/4882</ns5:IAO_0000233>
        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9815</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/craniosynostosis_7</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>MEDGEN:1392447</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0044315</oboInOwl:id>
        <oboInOwl:hasExactSynonym>craniosynostosis 7, susceptibility to</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0060912</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4479496</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by {1:Fitzpatrick, 2013}).nnFor a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM:123100).</ns5:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>Crs7, digenic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>craniosynostosis 7, digenic</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>CRS7</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:617439</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>craniosynostosis 7</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1392447"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4479496"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060912"/>
        <ns3:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015469"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#omim_susceptibility"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/617439"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0700324 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0700324">
        <rdfs:label>SMAD6-related disease</rdfs:label>
    </Class>
</rdf:RDF>



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



