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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/4335 -->

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        <rdfs:label>GLUD1</rdfs:label>
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        <rdfs:label>hyperinsulinism-hyperammonemia syndrome</rdfs:label>
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        <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>
        <ns4: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.</ns4:IAO_0000115>
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        <oboInOwl:hasDbXref>NCIT:C131832</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0800153 -->

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        <rdfs:label>urea cycle disorder or inherited hyperammonemia</rdfs:label>
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