<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007259"?>
<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://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#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://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#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"/>
    


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

    


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

    


    <!-- 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_0007259 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007259">
        <rdfs:label>craniofaciofrontodigital syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015159"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100237"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/10388</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/1083/cantu-sanchez-corona-hernandez-syndrome</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/craniofaciofrontodigital_syndrome</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>SCTID:763320005</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0007259</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:393947</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0017571</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Cantu craniofaciofrontodigital syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>craniofaciofrontodigital syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Cantu Sanchez-Corona Hernandez syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:363705</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C567298</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2676032</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>A rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>OMIM:114620</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/393947"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C567298"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/763320005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2676032"/>
        <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#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_363705"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/114620"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015159 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015159">
        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome-intellectual disability</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100237 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100237">
        <rdfs:label>inherited cutis laxa</rdfs:label>
    </Class>
</rdf:RDF>



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



