<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0018938"?>
<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://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#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#hasNarrowSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#ncit_rare"/>
    


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

    


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

    


    <!-- 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_0005381 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005381">
        <rdfs:label>bone disorder</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018938 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018938">
        <rdfs:label>mucopolysaccharidosis type 4</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019249"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/7206</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/6314/eccentrochondrodysplasia</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/mucopolysaccharidosis_iv</ns2:curated_content_resource>
        <oboInOwl:hasDbXref>NCIT:C61263</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>eccentrochondrodysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0012562</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0018938</oboInOwl:id>
        <oboInOwl:hasDbXref>Orphanet:582</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>eccentro-osteochondrodysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:378007</oboInOwl:hasDbXref>
        <oboInOwl:hasNarrowSynonym>MPS IV - Morquio syndrome B</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasNarrowSynonym>MPS IV - Morquio syndrome A</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasNarrowSynonym>Morquio syndrome A</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasExactSynonym>Morquio disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasNarrowSynonym>galactosamine-6-sulfatase deficiency</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasExactSynonym>mucopolysaccharidosis type 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MedDRA:10028095</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0026707</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1455</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:12804</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>eccentroosteochondrodysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Morquio syndrome</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.</ns4:IAO_0000115>
        <oboInOwl:hasNarrowSynonym>deficiency of N-acetylgalactosamine-6-sulphatase</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:2078241550</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mucopolysaccharidosis IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MPS4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasNarrowSynonym>Morquio A disease</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasNarrowSynonym>mucopolysaccharidosis type IVB</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasNarrowSynonym>mucopolysaccharidosis type IVA</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasExactSynonym>mucopolysaccharidosis type IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Mucopolysaccharidosis IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200550</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:44513</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MPSIV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasNarrowSynonym>mucopolysaccharidosis, MPS-IV-A</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasDbXref>NANDO:1200105</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/2078241550"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10028095"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/44513"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/378007"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0026707"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_12804"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005328"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005381"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C61263"/>
        <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_582"/>
    </Class>
    


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

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



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



