<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0011338"?>
<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:ns2="http://purl.obolibrary.org/obo/mondo#"
     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#excluded_subClassOf"/>
    <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.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0011338 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011338">
        <rdfs:label>Omenn syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017855"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0031520"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/8198/omenn-syndrome</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/omenn_syndrome</ns2:curated_content_resource>
        <ns4:IAO_0000115>An inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID).</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MedDRA:10069097</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>severe combined immunodeficiency with hypereosinophilia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:603554</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2700553</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0011338</oboInOwl:id>
        <oboInOwl:hasDbXref>SCTID:722067005</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0008198</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C61240</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>reticuloendotheliosis familial with eosinophilia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:39041</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>reticuloendotheliosis, familial, with eosinophilia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>DOID:0060010</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Omenn syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200697</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>combined immunodeficiency with hypereosinophilia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:1200324</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:398130</oboInOwl:hasDbXref>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10069097"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/398130"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/722067005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2700553"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060010"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018814"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C61240"/>
        <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_39041"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/603554"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017855 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017855">
        <rdfs:label>T-B- severe combined immunodeficiency</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018814 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018814">
        <rdfs:label>non-SCID combined immunodeficiency</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0031520 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0031520">
        <rdfs:label>familial severe combined immunodeficiency</rdfs:label>
    </Class>
</rdf:RDF>



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



