<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007819"?>
<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#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://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.geneontology.org/formats/oboInOwl#inSubset"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#excluded_from_qc_check"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007733 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007733">
        <rdfs:label>holoprosencephaly 3</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007819 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007819">
        <rdfs:label>solitary median maxillary central incisor syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0007733"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017219"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/solitary_median_maxillary_central_incisor</ns2:curated_content_resource>
        <oboInOwl:hasDbXref>OMIM:147250</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C537342</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004877</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>solitary MEDIAN maxillary central incisor</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>single median maxillary central incisor</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:707609006</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>A hereditary autosomal dominant condition characterized primarily by single (unpaired) deciduous and permanent maxillary central incisors and short stature. Growth hormone deficiencies may also be present. Mutations in the SHH gene have been identified.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>solitary median maxillary central incisor syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:326686</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>incisors fused</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1840235</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>single upper central incisor</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>SMMCI</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0007819</oboInOwl:id>
        <oboInOwl:hasDbXref>icd11.foundation:1834868112</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2286</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1834868112"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/326686"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537342"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/707609006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1840235"/>
        <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#otar"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <ns2:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql"/>
        <ns2:excluded_from_qc_check rdf:resource="http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/147250"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017219 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017219">
        <rdfs:label>microform holoprosencephaly</rdfs:label>
    </Class>
</rdf:RDF>



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



