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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/869 -->

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        <rdfs:label>ATP7A</rdfs:label>
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        <rdfs:label>occipital horn syndrome</rdfs:label>
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        <oboInOwl:hasDbXref>OMIM:304150</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0004017</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>cutis laxa, X-linked</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MESH:C537860</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>DOID:0111272</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>occipital horn syndrome</oboInOwl:hasExactSynonym>
        <ns4:IAO_0000115>Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.</ns4:IAO_0000115>
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        <oboInOwl:hasDbXref>UMLS:C0268353</oboInOwl:hasDbXref>
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        <rdfs:label>inherited cutis laxa</rdfs:label>
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