<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0009746"?>
<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_0009746 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009746">
        <rdfs:label>hereditary sensory and autonomic neuropathy type 4</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_1060232"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/10031</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/insensitivity_to_pain_congenital_with_anhidrosis</ns4:curated_content_resource>
        <oboInOwl:hasExactSynonym>hereditary sensory and autonomic neuropathy caused by mutation in NTRK1</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:256800</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0070146</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0009746</oboInOwl:id>
        <oboInOwl:hasExactSynonym>congenital insensitivity to pain with anhidrosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:1200553</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0020074</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:642</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>NTRK1 hereditary sensory and autonomic neuropathy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C118633</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>Hereditary Sensory and Autonomic Neuropathy Type IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>CIPA</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>PMID:14272277</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0003006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200854</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1236</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>HSAN IV</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>HSAN4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>insensitivity to pain, congenital, with anhidrosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>PMID:8696348</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>HSNAN4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:6915</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1831234152</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:62985007</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hereditary sensory and autonomic neuropathy type IV</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1831234152"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/6915"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/62985007"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0020074"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070146"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C118633"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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_642"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/256800"/>
        <ns4:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0009746"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_1060232 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_1060232">
        <rdfs:label>congenital insensitivity to pain</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_642 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_642">
        <rdfs:label>obsolete_hereditary sensory and autonomic neuropathy type 4</rdfs:label>
    </Class>
</rdf:RDF>



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



