<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0010258"?>
<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_0010258 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0010258">
        <rdfs:label>MEHMO syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0020119"/>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</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/9285</ns4:IAO_0000233>
        <ns2:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/mehmo_syndrome</ns2:curated_content_resource>
        <oboInOwl:hasExactSynonym>X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MRXSBRK</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>mental retardation, X-linked, syndromic 20</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>intellectual disability, X-linked, syndromic 25</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>mental retardation, X-linked, syndromic 25</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>syndromic X-linked intellectual disability 25</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:722037004</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MRXS25</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>mental retardation, X-linked, syndromic, Borck type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MEHMO</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0009178</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>intellectual disability, X-linked, syndromic, Borck type; MRXSBRK</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:375855</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MRXS20</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>syndromic X-linked intellectual disability 20</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>MEHMO syndrome, X-linked recessive</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0010258</oboInOwl:id>
        <oboInOwl:hasDbXref>OMIM:300148</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C1846278</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:300987</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>MEHMO syndrome is characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localized to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MESH:C537451</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>icd11.foundation:500681653</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>MEHMO syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>X-linked MEHMO syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>intellectual disability, X-linked, syndromic, Borck type</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:85282</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>intellectual disability, X-linked, syndromic 20</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0060801</oboInOwl:hasDbXref>
        <skos:exactMatch rdf:resource="http://id.who.int/icd/entity/500681653"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/375855"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C537451"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/snomedct/722037004"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1846278"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0060801"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016402"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016403"/>
        <ns2:excluded_subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0016565"/>
        <oboInOwl:inSubset rdf:resource="http://purl.obolibrary.org/obo/mondo#clingen"/>
        <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_85282"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/300148"/>
        <ns2:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0010258"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0016565 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0016565">
        <rdfs:label>obsolete syndromic genetic obesity</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0020119 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0020119">
        <rdfs:label>X-linked syndromic intellectual disability</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_85282 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_85282">
        <rdfs:label>obsolete_MEHMO syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



