<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/BAO?iri=http://purl.obolibrary.org/obo/DOID_1700"?>
<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:ns2="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.geneontology.org/formats/oboInOwl#hasOBONamespace"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000412"/>
    <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#inSubset"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#id"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/DOID_0080012 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_0080012">
        <rdfs:label>X-linked recessive disease</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_1697 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_1697">
        <rdfs:label>ichthyosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/DOID_1700 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/DOID_1700">
        <rdfs:label>X-linked ichthyosis</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_0080012"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/DOID_1697"/>
        <oboInOwl:hasDbXref>OMIM:308100</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS_CUI:C0079588</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SNOMEDCT_US_2020_03_01:72523005</oboInOwl:hasDbXref>
        <oboInOwl:hasOBONamespace>disease_ontology</oboInOwl:hasOBONamespace>
        <oboInOwl:hasDbXref>GARD:7904</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD10CM:Q80.1</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCI:C84779</oboInOwl:hasDbXref>
        <ns2:IAO_0000115>An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.</ns2:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:D016114</oboInOwl:hasDbXref>
        <rdfs:comment>OMIM mapping confirmed by DO. [LS].</rdfs:comment>
        <oboInOwl:id>DOID:1700</oboInOwl:id>
        <oboInOwl:hasExactSynonym xml:lang="en">X-linked ichthyosis with steryl-sulphatase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">X-linked placental steryl-sulphatase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym xml:lang="en">X-linked recessive ichthyosis</oboInOwl:hasExactSynonym>
        <oboInOwl:inSubset rdf:resource="http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus"/>
        <ns2:IAO_0000412 rdf:resource="http://purl.obolibrary.org/obo/doid.owl"/>
    </Class>
</rdf:RDF>



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



