<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0016994"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:mondo="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: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#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#hasNarrowSynonym"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016994 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016994">
        <rdfs:label>microcephalic osteodysplastic primordial dwarfism types I and III</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0800063"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6751</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/5120/microcephalic-osteodysplastic-primordial-dwarfism-type-1</rdfs:seeAlso>
        <oboInOwl:hasRelatedSynonym>microcephalic osteodysplastic primordial dwarfism type 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasNarrowSynonym>Taybi-Linder syndrome</oboInOwl:hasNarrowSynonym>
        <oboInOwl:hasExactSynonym>MOPD types I and III</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:1380769</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C4319565</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0016994</oboInOwl:id>
        <oboInOwl:hasRelatedSynonym>low-birth-weight dwarfism with skeletal dysplasia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>SCTID:725461009</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>MOPD 1</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>cephaloskeletal dysplasia</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>brachymelic primordial dwarfism</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.</ns3:IAO_0000115>
        <oboInOwl:hasRelatedSynonym>osteodysplastic primordial dwarfism type I</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>microcephalic osteodysplastic primordial dwarfism types 1 and 3</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0005120</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2636</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>primordial microcephalic dwarfism, Crachami type</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/1380769"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/725461009"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C4319565"/>
        <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_2636"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0800063 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800063">
        <rdfs:label>primordial dwarfism and slender bone disorder</rdfs:label>
    </Class>
</rdf:RDF>



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



