<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0009279"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://purl.obolibrary.org/obo/mondo#"
     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/"
     xmlns:foaf="http://xmlns.com/foaf/0.1/"
     xmlns:dc="http://purl.org/dc/elements/1.1/">
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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/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#doid_rare"/>
    <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://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004003">
        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/13666 -->

    <Class rdf:about="http://identifiers.org/hgnc/13666">
        <rdfs:label>AAAS</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006025 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006025">
        <rdfs:label>autosomal recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009279 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009279">
        <rdfs:label>triple-A syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006025"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015129"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/13666"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/457/triple-a-syndrome</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/achalasia_addisonianism_alacrima_syndrome</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>quaternary A syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Addisonian-achalasia syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>glucocorticoid deficiency and achalasia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>Addisonian achalasia syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NCIT:C131005</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>4A syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>alacrima-achalasia-adrenal insufficiency neurologic disorder</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>triple A syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0009279</oboInOwl:id>
        <oboInOwl:hasExactSynonym>Double A syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>ACTH-resistant adrenal insufficiency, achalasia and alacrima</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>adrenal insufficiency-achalasia-alacrima syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0000457</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:869</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:231550</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>hypoadrenalism with achalasia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>AAA</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:1200410</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C536008</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:45414006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:255.41</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Allgrove syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>achalasia addisonianism alacrimia syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>achalasia-addisonianism-alacrima syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0050602</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>2A syndrome</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C0271742</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>AAAS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>triple-a syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:82889</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>achalasia alacrima syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>achalasia-alacrima syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>AAA syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>alacrima-achalasia-addisonianism</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>3A syndrome</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/82889"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536008"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/45414006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0271742"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050602"/>
        <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_869"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/231550"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015129 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015129">
        <rdfs:label>chronic primary adrenal insufficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



