<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0019249"?>
<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: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#disease_grouping"/>
    <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/IAO_0000115"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders"/>
    <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://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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#should_conform_to"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002561 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002561">
        <rdfs:label>lysosomal storage disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015327 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015327">
        <rdfs:label>developmental anomaly of metabolic origin</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019214 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019214">
        <rdfs:label>inborn carbohydrate metabolic disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019249 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019249">
        <rdfs:label>mucopolysaccharidosis</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002561"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015327"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019214"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100365"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis</rdfs:seeAlso>
        <oboInOwl:hasDbXref>NCIT:C61259</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0026703</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:12798</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D009083</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:7733</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>icd11.foundation:1596128696</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0019249</oboInOwl:id>
        <oboInOwl:hasDbXref>ICD9:277.5</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1461</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>MPS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>mucopolysaccharidoses</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Mucopolysaccharidoses</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:79213</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mucopolysaccharidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0007065</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIMPS:607014</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10028093</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:11380006</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1596128696"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10028093"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/7733"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D009083"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/11380006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0026703"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_12798"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C61259"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_grouping"/>
        <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_group_of_disorders"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <ns5:should_conform_to rdf:resource="http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_79213"/>
        <skos:exactMatch rdf:resource="https://omim.org/phenotypicSeries/PS607014"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100365 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100365">
        <rdfs:label>mucopolysaccharidosis or mucopolysaccharidosis-like disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



