<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010704"?>
<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/mondo#"
     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/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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://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>
    


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

    


    <!-- http://identifiers.org/hgnc/3754 -->

    <Class rdf:about="http://identifiers.org/hgnc/3754">
        <rdfs:label>FLNA</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_0010704 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010704">
        <rdfs:label>otopalatodigital syndrome type 1</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019027"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/3754"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/otopalatodigital_syndrome_type_i</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>UMLS:C0265251</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>OPD1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>frontootopalatodigital osteodysplasia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>OPD I syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>otopalatodigital syndrome, type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>OPD 1 syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>otopalatodigital spectrum disorder</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>OPD syndrome 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:90650</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C118845</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0111783</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>oto-palato-digital syndrome type 1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:54036001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:759.89</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>OPD syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:1442049882</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:78542</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>otopalatodigital syndrome, type I, X-linked dominant</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0005121</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>The mildest form of otopalatodigital syndrome spectrum disorder that is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>otopalatodigital syndrome, type I</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:311300</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0010704</oboInOwl:id>
        <oboInOwl:hasExactSynonym>Taybi syndrome</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1442049882"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/78542"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/54036001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0265251"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111783"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C118845"/>
        <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_90650"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/311300"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019027 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019027">
        <rdfs:label>otopalatodigital syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



