<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0018931"?>
<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:ns4="http://purl.obolibrary.org/obo/mondo#"
     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#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://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://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018931 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018931">
        <rdfs:label>mucolipidosis type III, alpha/beta</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0031422"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100122"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0800088"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns3:IAO_0000233>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/9285</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/3806/mucolipidosis-iii-alphabeta</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/mucolipidosis_iii_alpha_beta</ns4:curated_content_resource>
        <oboInOwl:hasBroadSynonym>ML3</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>Orphanet:423461</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:577</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>mucolipidosis type 3A</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>OMIM:252600</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0018931</oboInOwl:id>
        <oboInOwl:hasDbXref>NANDO:1200125</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mucolipidosis type III</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C0033788</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.</ns3:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>ML 3 A</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>ML 3 alpha/beta</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NANDO:2200568</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>pseudo-Hurler polydystrophy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:65764006</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>mucolipidosis III</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasBroadSynonym>mucolipidosis 3</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>MEDGEN:10988</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0080071</oboInOwl:hasDbXref>
        <oboInOwl:hasBroadSynonym>ML 3</oboInOwl:hasBroadSynonym>
        <oboInOwl:hasDbXref>NORD:1624</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Pseudo Hurler Polydystrophy</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>ML III alpha/beta</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>mucolipidosis type 3 alpha/beta</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MLIII</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0017704</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/10988"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/65764006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0033788"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080071"/>
        <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#nord_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_disorder"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_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_423461"/>
        <skos:exactMatch rdf:resource="http://www.orpha.net/ORDO/Orphanet_577"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/252600"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0031422 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0031422">
        <rdfs:label>familial mucolipidosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0100122 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100122">
        <rdfs:label>GNPTAB-mucolipidosis</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 -->



