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    <!-- http://purl.obolibrary.org/obo/MONDO_0003847 -->

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        <rdfs:label>hereditary disease</rdfs:label>
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    <!-- http://www.ebi.ac.uk/efo/EFO_1000817 -->

    <Class rdf:about="http://www.ebi.ac.uk/efo/EFO_1000817">
        <rdfs:label>apparent mineralocorticoid excess syndrome</rdfs:label>
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        <oboInOwl:hasDbXref>MESH:D043204</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:4367</oboInOwl:hasDbXref>
        <ns2:IAO_0000115>A hereditary disease characterized by childhood onset HYPERTENSION, hypokalemic alkalosis, and low RENIN and ALDOSTERONE secretion. It results from a defect in the activity of the 11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 2 enzyme which results in inadequate conversion of CORTISOL to CORTISONE. The build up of unprocessed cortisol to levels that stimulate MINERALOCORTICOID RECEPTORS creates the appearance of having excessive MINERALOCORTICOIDS.</ns2:IAO_0000115>
        <oboInOwl:hasExactSynonym>syndrome of apparent mineralocorticoid excess (disorder)</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SNOMEDCT:237770005</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Mineralocorticoid Excess Syndrome, Apparent</oboInOwl:hasExactSynonym>
        <ns2:IAO_0000117>Sirarat Sarntivijai</ns2:IAO_0000117>
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