<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007277"?>
<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/mondo#ordo_malformation_syndrome"/>
    <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.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://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- 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_0007277 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007277">
        <rdfs:label>cataract-aberrant oral frenula-growth delay syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000426"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015161"/>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/cataract_aberrant_oral_frenula_and_growth_retardation</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/cataract_aberrant_oral_frenula_growth_delay_syndrome</ns4:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>Wellesley Carmen French syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:350520</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0005554</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C536691</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Wellesley-Carman-French syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:1373</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Cataract-aberrant oral frenula-growth delay syndrome is characterized by cataracts and short stature associated with variable anomalies, including aberrant oral frenula, a characteristic facial appearance (posteriorly angulated ears, upslanting palpebral fissures, small nose, ptosis and epicanthal folds) cavernous hemangiomas and hernias. It has been described in a mother and her two children. It is transmitted as an autosomal dominant trait.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C1861835</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:715988005</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>cataracts, aberrant oral frenula, and growth retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:115645</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0007277</oboInOwl:id>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/350520"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536691"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/715988005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1861835"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome"/>
        <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_1373"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/115645"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015161 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015161">
        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome without intellectual disability</rdfs:label>
    </Class>
</rdf:RDF>



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



