<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/NCIT?iri=http://purl.obolibrary.org/obo/NCIT_C121745"?>
<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: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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P322"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P325"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P106"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_NHC0"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P108"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_P207"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/NCIT_R176 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/NCIT_R176">
        <rdfs:label>Disease_Mapped_To_Gene</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/NCIT_C118467 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C118467">
        <rdfs:label>Pediatric Endocrinology Terminology</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/NCIT_C121745 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C121745">
        <rdfs:label>Pendred Syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/NCIT_C26734"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/NCIT_R176"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/NCIT_C207946"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000115>A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.</ns4:IAO_0000115>
        <ns4:NCIT_P325>A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.</ns4:NCIT_P325>
        <ns4:NCIT_P108>Pendred Syndrome</ns4:NCIT_P108>
        <ns4:NCIT_P322>NICHD</ns4:NCIT_P322>
        <ns4:NCIT_P207>C0271829</ns4:NCIT_P207>
        <ns4:NCIT_P106>Disease or Syndrome</ns4:NCIT_P106>
        <oboInOwl:hasExactSynonym>Pendred Syndrome</oboInOwl:hasExactSynonym>
        <ns4:NCIT_NHC0>C121745</ns4:NCIT_NHC0>
        <ns4:NCIT_P322>Cellosaurus</ns4:NCIT_P322>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/NCIT_C118467"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/NCIT_C165258"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/NCIT_C90259"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/NCIT_C165258 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C165258">
        <rdfs:label>Cellosaurus Disease Terminology</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/NCIT_C207946 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C207946">
        <rdfs:label>SLC26A4 Gene</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/NCIT_C26734 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C26734">
        <rdfs:label>Congenital Hypothyroidism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/NCIT_C90259 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/NCIT_C90259">
        <rdfs:label>NICHD Terminology</rdfs:label>
    </Class>
</rdf:RDF>



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



