<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0007793"?>
<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:ORDO="http://www.orpha.net/ORDO/"
     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#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://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://www.w3.org/2004/02/skos/core#closeMatch"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0005516 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0005516">
        <rdfs:label>osteochondrodysplasia</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0007793 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0007793">
        <rdfs:label>hypochondroplasia</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0005516"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019685"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/6724/hypochondroplasia</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hypochondroplasia</ns2:curated_content_resource>
        <oboInOwl:hasDbXref>NCIT:C118697</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:756.9</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:146000</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C562937</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:429</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0006724</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2201010</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C0410529</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:205468002</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:1930265486</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>HCH</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NORD:1271</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MedDRA:10020967</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0080041</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0007793</oboInOwl:id>
        <oboInOwl:hasExactSynonym>hypochondroplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:98376</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1930265486"/>
        <skos:closeMatch rdf:resource="http://identifiers.org/meddra/10020967"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/98376"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C562937"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/205468002"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0410529"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080041"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018232"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C118697"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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#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_429"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/146000"/>
        <ns2:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0007793"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019685 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019685">
        <rdfs:label>FGFR3-related chondrodysplasia</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_429 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_429">
        <rdfs:label>obsolete_hypochondroplasia</rdfs:label>
    </Class>
</rdf:RDF>



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



