<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://www.orpha.net/ORDO/Orphanet_665"?>
<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:rdfs="http://www.w3.org/2000/01/rdf-schema#"
     xmlns:ORDO="http://www.orpha.net/ORDO/"
     xmlns:ns4="http://www.ebi.ac.uk/efo/"
     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/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://purl.obolibrary.org/obo/MONDO_0001220 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0001220">
        <rdfs:label>hypoparathyroidism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0019276 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0019276">
        <rdfs:label>inherited epidermolysis bullosa</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_183592 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183592">
        <rdfs:label>Genetic renal tubular disease</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_183634 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183634">
        <rdfs:label>Rare genetic parathyroid disease and phosphocalcic metabolism disorder</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_240371 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_240371">
        <rdfs:label>Syndromic obesity</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_665 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_665">
        <rdfs:label>Albright hereditary osteodystrophy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0001220"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019276"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183592"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183634"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_240371"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_69028"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_98648"/>
        <oboInOwl:hasDbXref>OMIM:103580</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10:E20.1</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C537045</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2931404</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:612462</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:612463</oboInOwl:hasDbXref>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <ns3:IAO_0000115>Albright hereditary osteodystrophy (AHO) describes a constellation of clinical manifestations, seen in certain forms of pseudohypoparathyroidism (PHP; see this term) and other types of hormone resistance, consisting of short stature, rounded face, subcutaneous ossifications, brachydactyly and variable degrees of developmental delay.</ns3:IAO_0000115>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_69028 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_69028">
        <rdfs:label>Syndrome with brachydactyly</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_98648 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_98648">
        <rdfs:label>Musculoskeletal disease with cataract</rdfs:label>
    </Class>
</rdf:RDF>



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



