<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008846"?>
<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.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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // 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_0004022 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004022">
        <rdfs:label>disease arises from feature</rdfs:label>
        <rdfs:label>disease has basis in feature</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/11740 -->

    <Class rdf:about="http://identifiers.org/hgnc/11740">
        <rdfs:label>TF</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/HP_0011031 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/HP_0011031">
        <rdfs:label>Abnormality of iron homeostasis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0004689 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0004689">
        <rdfs:label>inborn metal metabolism disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008846 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008846">
        <rdfs:label>atransferrinemia</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0004689"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016624"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017763"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004022"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/HP_0011031"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/11740"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/9595/atransferrinemia</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/atransferrinemia</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>OMIM:209300</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C538259</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>congenital hypotransferrinemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>familial hypotransferrinemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>hereditary atransferrinemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>atransferrinemia</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0008846</oboInOwl:id>
        <oboInOwl:hasDbXref>NANDO:2200617</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:1195</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0009595</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C0521802</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C125693</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>congenital atransferrinemia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:819</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050649</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2100180</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:111571009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:105489</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/105489"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C538259"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/111571009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0521802"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050649"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C125693"/>
        <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_1195"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/209300"/>
    </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_0017763 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017763">
        <rdfs:label>disorder of iron metabolism and transport</rdfs:label>
    </Class>
</rdf:RDF>



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



