<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0007073"?>
<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/mondo#ordo_malformation_syndrome"/>
    <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#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.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007073 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007073">
        <rdfs:label>Hypoglossia-hypodactyly syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015160"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0017139"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019054"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019713"/>
        <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/6332</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hypoglossia_hypodactylia</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hypoglossia_hypodactyly_syndrome</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>Orphanet:989</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:759.89</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:35031005</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>aglossia adactylia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:354928</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>A rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>NORD:1215</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:103300</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Hanhart syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0000068</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Jussieu syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C1863203</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Hanhart Syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>peromelia with micrognathia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0007073</oboInOwl:id>
        <oboInOwl:hasExactSynonym>aglossia-adactylia syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Hypoglossia-hypodactylia syndrome</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/354928"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/35031005"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1863203"/>
        <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_malformation_syndrome"/>
        <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_989"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/103300"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015160 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015160">
        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0017139 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0017139">
        <rdfs:label>oromandibular-limb hypogenesis syndrome</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019054 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019054">
        <rdfs:label>congenital limb malformation</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019713 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019713">
        <rdfs:label>non-syndromic limb reduction defect</rdfs:label>
    </Class>
</rdf:RDF>



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



