<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0009852"?>
<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://www.geneontology.org/formats/oboInOwl#hasBroadSynonym"/>
    <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://www.w3.org/2004/02/skos/core#relatedMatch"/>
    <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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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


    <!-- http://purl.obolibrary.org/obo/RO_0004029 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004029">
        <rdfs:label>disease has feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/4268 -->

    <Class rdf:about="http://identifiers.org/hgnc/4268">
        <rdfs:label>CBLIF</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0001889 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0001889">
        <rdfs:label>Megaloblastic anemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009852 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009852">
        <rdfs:label>hereditary intrinsic factor deficiency</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016624"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019220"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/4268"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004029"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0001889"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/congenital_intrinsic_factor_deficiency</ns5:curated_content_resource>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/intrinsic_factor_deficiency</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>congenital pernicious anaemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:332</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>congenital pernicious anemia due to defect of intrinsic factor</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0009852</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:1876474</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:60504009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C563242</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>congenital pernicious anemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MedDRA:10070440</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:261000</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2062370</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Congenital intrinsic factor deficiency (IFD) is a rare disorder of vitamin B12 (cobalamin) absorption that is characterized by megaloblastic anemia and neurological abnormalities.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>intrinsic factor, congenital deficiency of</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:34925000</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>IFD</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>congenital pernicious anaemia due to defect of intrinsic factor</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0003024</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050734</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hereditary juvenile megaloblastic anaemia due to intrinsic factor deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>congenital intrinsic factor deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>gastric intrinsic factor deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasBroadSynonym>intrinsic factor deficiency</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>ICD9:281.3</oboInOwl:hasDbXref>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10070440"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1876474"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563242"/>
        <skos:relatedMatch rdf:resource="http://identifiers.org/snomedct/34925000"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/60504009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C2062370"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050734"/>
        <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_332"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/261000"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016624 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016624">
        <rdfs:label>hereditary anemia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019220 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019220">
        <rdfs:label>inborn disorder of cobalamin metabolism and transport</rdfs:label>
    </Class>
</rdf:RDF>



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



