<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/MONDO?iri=http://purl.obolibrary.org/obo/MONDO_0000136"?>
<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:ns4="http://purl.obolibrary.org/obo/mondo#"
     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/mondo#ordo_disorder"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#gard_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#otar"/>
    <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://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"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#doid_rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#orphanet_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#hasExactSynonym"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#rare"/>
    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/mondo#nord_rare"/>
    <AnnotationProperty rdf:about="http://www.geneontology.org/formats/oboInOwl#inSubset"/>
    


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

    


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

    


    <!-- http://purl.obolibrary.org/obo/MONDO_0000136 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000136">
        <rdfs:label>keratosis follicularis spinulosa decalvans</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0006566"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0018855"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0800159"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4985</ns3:IAO_0000233>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/keratosis_follicularis_spinulosa_decalvans</ns4:curated_content_resource>
        <rdfs:comment>This term&#39;s classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the &#39;disorder of visual system&#39; (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)</rdfs:comment>
        <oboInOwl:hasDbXref>UMLS:C0343057</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:303213910</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:2340</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>SCTID:238626006</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0000136</oboInOwl:id>
        <oboInOwl:hasExactSynonym>keratosis pilaris decalvans</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:83355</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1288</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:757.39</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>GARD:0006829</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0080753</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/303213910"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/83355"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/238626006"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C0343057"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0080753"/>
        <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#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_2340"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006566 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006566">
        <rdfs:label>keratosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0018855 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0018855">
        <rdfs:label>keratosis pilaris atrophicans</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0800159 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800159">
        <rdfs:label>disorder of polyamine metabolism</rdfs:label>
    </Class>
</rdf:RDF>



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



