<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0009661"?>
<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://purl.obolibrary.org/obo/IAO_0000233"/>
    <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#clingen"/>
    <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"/>
    <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_0004021 -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/RO_0004021">
        <rdfs:label>disease has basis in disruption of</rdfs:label>
        <rdfs:label>disease caused by disruption of</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://identifiers.org/hgnc/714 -->

    <Class rdf:about="http://identifiers.org/hgnc/714">
        <rdfs:label>ARSB</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/GO_0003943 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/GO_0003943">
        <rdfs:label>N-acetylgalactosamine-4-sulfatase activity</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005328 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005328">
        <rdfs:label>eye disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0009661 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0009661">
        <rdfs:label>mucopolysaccharidosis type 6</rdfs:label>
        <equivalentClass>
            <Class>
                <intersectionOf rdf:parseType="Collection">
                    <rdf:Description rdf:about="http://purl.obolibrary.org/obo/MONDO_0019249"/>
                    <Restriction>
                        <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004021"/>
                        <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GO_0003943"/>
                    </Restriction>
                </intersectionOf>
            </Class>
        </equivalentClass>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005328"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019249"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0800088"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004021"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GO_0003943"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/714"/>
            </Restriction>
        </rdfs:subClassOf>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/mucopolysaccharidosis_type_vi</ns5:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>Maroteaux Lamy syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:52677002</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MPS6</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:1200109</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200108</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mucopolysaccharidosis type VI (Maroteaux-Lamy)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>arylsulfatase B deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:1288379621</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:253200</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C61264</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:12800</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0007095</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ASB deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0026709</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:583</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:D009087</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10056892</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>Maroteaux-Lamy syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200551</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ARSB deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:69463008</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Maroteaux-Lamy disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Maroteaux Lamy Syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NORD:1405</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mucopolysaccharidosis type VI</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:44514</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MPSVI</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Mucopoly-saccharidosis type VI</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:1200110</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0009661</oboInOwl:id>
        <oboInOwl:hasExactSynonym>N-acetylgalactosamine 4-sulfatase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>MPS VI</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1288379621"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10056892"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/44514"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/D009087"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/52677002"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/69463008"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0026709"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_12800"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C61264"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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_583"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/253200"/>
        <ns5:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0009661"/>
    </Class>
    


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

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019249">
        <rdfs:label>mucopolysaccharidosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0800088 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800088">
        <rdfs:label>lysosomal storage disease with skeletal involvement</rdfs:label>
    </Class>
</rdf:RDF>



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



