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    <!-- http://www.orpha.net/ORDO/Orphanet_26 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_26">
        <rdfs:label>Methylmalonic acidemia with homocystinuria</rdfs:label>
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    <!-- http://www.orpha.net/ORDO/Orphanet_79284 -->

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        <rdfs:label>Methylmalonic acidemia with homocystinuria type cblF</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_26"/>
        <oboInOwl:hasExactSynonym>Lysosomal membrane cobalamin transporter deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF</oboInOwl:hasExactSynonym>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasDbXref>OMIM:277380</oboInOwl:hasDbXref>
        <ns3:IAO_0000115> type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.</ns3:IAO_0000115>
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        <oboInOwl:hasExactSynonym>Cobalamin F defect</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Methylmalonic aciduria with homocystinuria, type cblF</oboInOwl:hasExactSynonym>
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