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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/10683 -->

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        <rdfs:label>SDHD</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0006025 -->

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        <rdfs:label>autosomal recessive disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0030937 -->

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        <rdfs:label>mitochondrial complex 2 deficiency, nuclear type 3</rdfs:label>
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        <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/9178</ns4:IAO_0000233>
        <ns4:IAO_0000115>A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:1751884</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>mitochondrial complex 2 deficiency, nuclear type 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>mitochondrial complex II deficiency, nuclear type 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>UMLS:C5436934</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SDHD-related Nuclear type mitochondrial complex II deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:619167</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>GARD:0016430</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0031230 -->

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