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    <!-- http://purl.obolibrary.org/obo/MONDO_0100552 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0100552">
        <rdfs:label>ATTRV30M amyloidosis</rdfs:label>
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        <oboInOwl:hasExactSynonym>hereditary ATTRV30M-related amyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>ATTRV30M-related amyloidosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>familial amyloid polyneuropathy type I</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (&lt;50 years or &gt;50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.</ns3:IAO_0000115>
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        <oboInOwl:hasDbXref>UMLS:C0268384</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>transthyretin amyloid neuropathy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>transthyretin amyloid polyneuropathy</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>MEDGEN:78669</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0016754</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:85447</oboInOwl:hasDbXref>
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