<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_709"?>
<rdf:RDF xmlns="http://www.w3.org/2002/07/owl#"
     xml:base="http://www.w3.org/2002/07/owl"
     xmlns:ns5="http://www.ebi.ac.uk/efo/"
     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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ORDO="http://www.orpha.net/ORDO/"
     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://www.ebi.ac.uk/efo/reason_for_obsolescence"/>
    <AnnotationProperty rdf:about="http://www.ebi.ac.uk/efo/obsoleted_in_version"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0100001"/>
    <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.ebi.ac.uk/efo/definition_citation"/>
    


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

    


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

    


    <!-- http://www.orpha.net/ORDO/Orphanet_709 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_709">
        <rdfs:label>obsolete_Peters plus syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.w3.org/2002/07/owl#Thing"/>
        <deprecated rdf:datatype="http://www.w3.org/2001/XMLSchema#boolean">true</deprecated>
        <oboInOwl:hasDbXref>OMIM:261540</oboInOwl:hasDbXref>
        <ns5:obsoleted_in_version>3.41.0</ns5:obsoleted_in_version>
        <oboInOwl:hasExactSynonym>Peters anomaly with short limb dwarfism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Krause-Kivlin syndrome</oboInOwl:hasExactSynonym>
        <ns5:reason_for_obsolescence>Replaced with Mondo term.</ns5:reason_for_obsolescence>
        <ns5:definition_citation>orphanet</ns5:definition_citation>
        <ns4:IAO_0100001>http://purl.obolibrary.org/obo/MONDO_0009856</ns4:IAO_0100001>
        <oboInOwl:hasDbXref>ICD10:Q13.4</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, hand abnormalities (i.e. broad distal extremities), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys), and congenital hypothyroidism.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>Krause-van Schooneveld-Kivlin syndrome</oboInOwl:hasExactSynonym>
    </Class>
</rdf:RDF>



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



