<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0008711"?>
<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#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://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://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


    <!-- 
    ///////////////////////////////////////////////////////////////////////////////////////
    //
    // Object Properties
    //
    ///////////////////////////////////////////////////////////////////////////////////////
     -->

    


    <!-- http://purl.obolibrary.org/obo/mondo#disease_shares_features_of -->

    <ObjectProperty rdf:about="http://purl.obolibrary.org/obo/mondo#disease_shares_features_of">
        <rdfs:label>disease shares features of</rdfs:label>
    </ObjectProperty>
    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000078 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000078">
        <rdfs:label>acrocephalopolysyndactyly</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0008711 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008711">
        <rdfs:label>Goodman syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000078"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015160"/>
        <rdfs:subClassOf>
            <Restriction>
                <onProperty rdf:resource="http://purl.obolibrary.org/obo/mondo#disease_shares_features_of"/>
                <someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019012"/>
            </Restriction>
        </rdfs:subClassOf>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/2549/goodman-syndrome</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/acrocephalopolysyndactyly_type_iv</ns5:curated_content_resource>
        <oboInOwl:hasDbXref>OMIM:201020</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:65798</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:720600004</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0008711</oboInOwl:id>
        <oboInOwl:hasExactSynonym>ACPS 4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C537287</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0002549</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease. There have been no further descriptions in the literature since 1979. Goodman syndrome could be a variant of Carpenter syndrome.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>ACPS4</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:78551</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Goodman syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>Goodman camptodactyly</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C0265303</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>acrocephalopolysyndactyly type 4</oboInOwl:hasExactSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/78551"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537287"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/720600004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0265303"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#ordo_malformation_syndrome"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#rare"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/201020"/>
    </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_0019012 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019012">
        <rdfs:label>Carpenter syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



