<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0012559"?>
<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: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://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.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#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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0012559 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0012559">
        <rdfs:label>primary immunodeficiency syndrome due to p14 deficiency</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015134"/>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/immunodeficiency_due_to_defect_in_mapbp_interacting_protein</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>SCTID:718717004</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:372135</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>primary immunodeficiency syndrome with short stature</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:813140844</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:90023</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0012559</oboInOwl:id>
        <oboInOwl:hasDbXref>OMIM:610798</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2200752</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>primary immunodeficiency syndrome due to LAMTOR2 deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0016783</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1835829</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C563663</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Primary immunodeficiency syndrome due to p14 deficiency is characterized by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.</ns3:IAO_0000115>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/813140844"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/372135"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563663"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/718717004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1835829"/>
        <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_90023"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/610798"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015134 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015134">
        <rdfs:label>constitutional neutropenia</rdfs:label>
    </Class>
</rdf:RDF>



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



