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    <!-- http://purl.obolibrary.org/obo/MONDO_0000456 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0000456">
        <rdfs:label>cerebral creatine deficiency syndrome</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0012996 -->

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        <rdfs:label>AGAT deficiency</rdfs:label>
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        <oboInOwl:hasExactSynonym>L-arginine:glycine amidinotransferase deficiency</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>NANDO:1201033</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>arginine:glycine amidinotransferase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>cerebral creatine deficiency syndrome type 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>creatine deficiency syndrome due to AGAT deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MESH:C567192</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0010323</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>disorder of glycine amidinotransferase activity</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>glycine amidinotransferase activity disease</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>cerebral creatine deficiency syndrome 3</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>AGAT deficiency</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>Orphanet:35704</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.</ns3:IAO_0000115>
        <oboInOwl:hasExactSynonym>GATM deficiency</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>UMLS:C2675179</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:2201299</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:612718</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:436367</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>ICD9:270.8</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0045018 -->

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