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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/6535 -->

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        <rdfs:label>LDHA</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0002412 -->

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        <rdfs:label>disorder of glycogen metabolism</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0013047 -->

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        <rdfs:label>glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</rdfs:label>
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        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency</rdfs:seeAlso>
        <oboInOwl:hasDbXref>OMIM:612933</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>glycogen storage disease caused by mutation in LDHA</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>GSD 11</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>NANDO:1200833</oboInOwl:hasDbXref>
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        <oboInOwl:hasRelatedSynonym>GSD type 11</oboInOwl:hasRelatedSynonym>
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        <oboInOwl:hasExactSynonym>glycogenosis due to lactate dehydrogenase M-subunit deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>LDH-M subunit deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>Orphanet:284426</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>glycogen storage disease XI</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C538133</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>GSD XI</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>ICD9:271.8</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0013047</oboInOwl:id>
        <ns5:IAO_0000115>A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue (rhabdomyolysis), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>SCTID:237982007</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>GSD due to lactate dehydrogenase M-subunit deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0003160</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C2931743</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>lactate dehydrogenase deficiency type A</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>LDHA glycogen storage disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>lactate dehydrogenase A deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>glycogenosis type 11</oboInOwl:hasRelatedSynonym>
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