<?xml version="1.0"?>
<?xml-stylesheet type="text/xsl" href="https://ontobee.org/ontology/view/EFO?iri=http://purl.obolibrary.org/obo/MONDO_0011717"?>
<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://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_0011717 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0011717">
        <rdfs:label>hyperinsulinism-hyperammonemia syndrome</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0015624"/>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0800153"/>
        <ns3:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4985</ns3:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/9931/hyperinsulinism-hyperammonemia-syndrome</rdfs:seeAlso>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/hyperinsulinemic_hypoglycemia_familial_6</ns4:curated_content_resource>
        <oboInOwl:hasDbXref>GARD:0009931</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:606762</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hyperinsulinism-hyperammonemia syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hyperinsulinism hyperammonemia syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>glutamate dehydrogenase 1 hyperinsulinism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0070217</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hyperinsulinemic hypoglycemia, familial, type 6</oboInOwl:hasExactSynonym>
        <ns3:IAO_0000115>Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.</ns3:IAO_0000115>
        <oboInOwl:id>MONDO:0011717</oboInOwl:id>
        <oboInOwl:hasDbXref>MEDGEN:376153</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>GLUD1 hyperinsulinism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hyperinsulinemic hypoglycemia, familial, 6</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>hi/HA syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C1847555</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>HHF6</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>GDH hyperinsulinism</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>hyperinsulinemic hypoglycemia familial 6</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C538375</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>hyperinsulinism/hyperammonemia syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:35878</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NCIT:C131832</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>HA/hi syndrome</oboInOwl:hasRelatedSynonym>
        <skos:exactMatch rdf:resource="http://identifiers.org/medgen/376153"/>
        <skos:exactMatch rdf:resource="http://identifiers.org/mesh/C538375"/>
        <skos:exactMatch rdf:resource="http://linkedlifedata.com/resource/umls/id/C1847555"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/DOID_0070217"/>
        <skos:exactMatch rdf:resource="http://purl.obolibrary.org/obo/NCIT_C131832"/>
        <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#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_35878"/>
        <skos:exactMatch rdf:resource="https://omim.org/entry/606762"/>
        <ns4:curated_content_resource rdf:resource="https://search.clinicalgenome.org/kb/conditions/MONDO:0011717"/>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0015624 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0015624">
        <rdfs:label>diazoxide-sensitive diffuse hyperinsulinism</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0800153 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800153">
        <rdfs:label>urea cycle disorder or inherited hyperammonemia</rdfs:label>
    </Class>
    


    <!-- http://www.orpha.net/ORDO/Orphanet_35878 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_35878">
        <rdfs:label>obsolete_hyperinsulinism-hyperammonemia syndrome</rdfs:label>
    </Class>
</rdf:RDF>



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



