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    <!-- http://purl.obolibrary.org/obo/MONDO_0003847 -->

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        <rdfs:label>hereditary disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0016576 -->

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        <rdfs:label>split hand-foot malformation</rdfs:label>
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        <oboInOwl:hasDbXref>OMIMPS:183600</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>SCTID:81208006</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NORD:1731</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>GARD:0006319</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>split-hand/foot malformation</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>FEWER digits</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>ectrodactyly</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:78566</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>SHFM</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>Split Hand/Split Foot Malformation</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C75000</oboInOwl:hasDbXref>
        <ns3:IAO_0000115>Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.</ns3:IAO_0000115>
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