<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0013959"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0013959 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013959">
        <rdfs:label>Charcot-Marie-Tooth disease type 4F</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018995"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/12441/charcot-marie-tooth-disease-type-4f</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/charcot_marie_tooth_disease_demyelinating_type_4f</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/charcot_marie_tooth_disease_type_4f_2</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>Prx Charcot-Marie-Tooth disease type 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:330503211</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:761704</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>CMT4F</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:614895</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:99952</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0013959</oboInOwl:id>
        <ns3:IAO_0000115>Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.</ns3:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>Charcot-Marie-Tooth disease, demyelinating, type 4F</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>PRX Charcot-Marie-Tooth disease type 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0012441</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C3540453</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Charcot-Marie-Tooth disease, type 4F</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Charcot-Marie-Tooth disease type 4 caused by mutation in PRX</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Charcot-Marie-Tooth disease type 4 caused by mutation in Prx</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:715801001</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0110193</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/330503211"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/761704"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/715801001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C3540453"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0110193"/>
        <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#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_99952"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/614895"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018995 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018995">
        <rdfs:label>Charcot-Marie-Tooth disease type 4</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_99952 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_99952">
        <rdfs:label>obsolete_Charcot-Marie-Tooth disease type 4F</rdfs:label>
    </Class>
</rdf:RDF>



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



