<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0014507"?>
<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://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <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://www.geneontology.org/formats/oboInOwl#inSubset"/>
    <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"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000508 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000508">
        <rdfs:label>syndromic intellectual disability</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0014507 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0014507">
        <rdfs:label>Catel-Manzke syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015159"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018230"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4948</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/5588</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6751</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/28/catel-manzke-syndrome</rdfs:seeAlso>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/catel_manzke_syndrome_2</ns2:curated_content_resource>
        <oboInOwl:hasDbXref>NORD:901</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:302380</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Catel-Manzke syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0081122</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Catel Manzke syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:616145</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1844887</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:1388</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>CATMANS</oboInOwl:hasRelatedSynonym>
        <ns4:IAO_0000115>Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0000028</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:375536</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Catel Manzke Syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:722383001</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Palatodigital syndrome Catel-Manzke type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>index finger anomaly-Pierre Robin syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0014507</oboInOwl:id>
        <oboInOwl:hasDbXref>icd11.foundation:1023183031</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Palatodigital syndrome, Catel-Manzke type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>micrognathia digital syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Pierre Robin sequence-hyperphalangy-clinodactyly syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C535347</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/1023183031"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/375536"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C535347"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/722383001"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1844887"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0081122"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0000508"/>
        <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#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_1388"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/616145"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015159 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015159">
        <rdfs:label>multiple congenital anomalies/dysmorphic syndrome-intellectual disability</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018230 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018230">
        <rdfs:label>skeletal dysplasia</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_1388 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_1388">
        <rdfs:label>obsolete_Catel-Manzke syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



