<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0008663"?>
<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: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://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://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_0008663 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008663">
        <rdfs:label>snowflake vitreoretinal degeneration</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020248"/>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/vitreoretinal_degeneration_snowflake_type</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>GARD:0009706</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>snowflake degeneration in hereditary vitreoretinal degeneration</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>UMLS:C1860405</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:193230</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>vitreoretinal degeneration, snowflake type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:91496</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:282570444</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C536677</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Snowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>snowflake vitreoretinal degeneration</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>SVD</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:395476</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0111570</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0008663</oboInOwl:id>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/282570444"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/395476"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C536677"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1860405"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0111570"/>
        <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_91496"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/193230"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020248 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020248">
        <rdfs:label>vitreoretinal degeneration</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_91496 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_91496">
        <rdfs:label>obsolete_snowflake vitreoretinal degeneration</rdfs:label>
    </Class>
</rdf:RDF>



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



