<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_1173"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://www.ebi.ac.uk/efo/"
     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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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.ebi.ac.uk/efo/definition_citation"/>
    


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

    


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

    


    <!-- http://www.orpha.net/ORDO/Orphanet_1173 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_1173">
        <rdfs:label>Cerebellar ataxia - hypogonadism</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_181387"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183518"/>
        <ns3:IAO_0000115>Cerebellar ataxia - hypogonadism, also known as Gordon-Holmes syndrome, is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia - hypogonadism belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as Ataxia - hypogonadism - choroidal dystrophy (see this term).</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>Gordon-Holmes syndrome</oboInOwl:hasExactSynonym>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasDbXref>ICD10:G11.8</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Luteinizing hormone-releasing hormone deficiency with ataxia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:212840</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:605672</oboInOwl:hasDbXref>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_181387 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_181387">
        <rdfs:label>Rare disorder with hypogonadotropic hypogonadism</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_183518 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183518">
        <rdfs:label>Rare hereditary ataxia</rdfs:label>
    </Class>
</rdf:RDF>



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



