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    <!-- http://www.orpha.net/ORDO/Orphanet_1380 -->

    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_1380">
        <rdfs:label>Cataract - nephropathy - encephalopathy</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183539"/>
        <rdfs:subClassOf rdf:resource="http://www.orpha.net/ORDO/Orphanet_183763"/>
        <ns4:definition_citation>orphanet</ns4:definition_citation>
        <oboInOwl:hasDbXref>OMIM:218900</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Cataract - nephropathy - encephalopathy syndrome describes a lethal combination of manifestations including short stature, congenital cataracts, encephalopathy with epileptic fits, and postmortem confirmation of nephropathy (renal tubular necrosis). The combination of cataract - nephropathy - encephalopathy has been described in 2 female infant children of first cousin parents. The infants did not survive beyond 4 and 8 months respectively. There have been no further descriptions in the literature since 1963.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C0795914</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Crome syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>ICD10:Q87.8</oboInOwl:hasDbXref>
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        <rdfs:label>Genetic renal or urinary tract malformation</rdfs:label>
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    <Class rdf:about="http://www.orpha.net/ORDO/Orphanet_183763">
        <rdfs:label>Rare genetic intellectual disability with developmental anomaly</rdfs:label>
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