<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0010056"?>
<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#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#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
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


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


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

    


    <!-- http://identifiers.org/hgnc/11117 -->

    <Class rdf:about="http://identifiers.org/hgnc/11117">
        <rdfs:label>SMN1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0010056 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010056">
        <rdfs:label>spinal muscular atrophy, type IV</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019079"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/RO_0004003"/>
                <someValuesFrom rdf:resource="http://identifiers.org/hgnc/11117"/>
            </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>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/spinal_muscular_atrophy_type_iv</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>spinal muscular atrophy, adult form</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>icd11.foundation:443229384</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SMA type 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>spinal muscular atrophy of adults</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD9:335.19</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SMA4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>spinal muscular atrophy 4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>SMA 4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:1200007</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:271150</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1838230</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SMA-IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>spinal muscular atrophy-4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>spinal muscular atrophy, proximal, adult, autosomal recessive</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>spinal muscular atrophy, type IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:83420</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C563948</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0050529</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:325364</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>spinal muscular atrophy type 4</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0000564</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>adult-onset spinal muscular atrophy</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>SMA type IV</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:85505000</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0010056</oboInOwl:id>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/443229384"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/325364"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C563948"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/85505000"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1838230"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0050529"/>
        <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_subtype_of_a_disorder"/>
        <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_83420"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/271150"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019079 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019079">
        <rdfs:label>proximal spinal muscular atrophy</rdfs:label>
    </Class>
</rdf:RDF>



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



