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    <!-- http://purl.obolibrary.org/obo/MONDO_0008563 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0008563">
        <rdfs:label>thumb stiffness-brachydactyly-intellectual disability syndrome</rdfs:label>
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        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/thumb_stiffness_brachydactyly_intellectual_disability_syndrome</ns4:curated_content_resource>
        <ns4:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/thumbs_stiff_with_brachydactyly_type_a1_and_developmental_delay</ns4:curated_content_resource>
        <oboInOwl:hasRelatedSynonym>Thumb ankylosis with mental retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>Piussan-Lenaerts-Mathieu syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>OMIM:188201</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:1078</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>thumbs, STIFF, with brachydactyly type A1 and developmental delay</oboInOwl:hasRelatedSynonym>
        <ns3:IAO_0000115>Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.</ns3:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C1861166</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:396073</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>thumb stiff brachydactyly mental retardation</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0008563</oboInOwl:id>
        <oboInOwl:hasDbXref>GARD:0004375</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Thumb ankylosis with intellectual disability</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>thumb stiff brachydactyly intellectual disability</oboInOwl:hasRelatedSynonym>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019054 -->

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        <rdfs:label>congenital limb malformation</rdfs:label>
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        <rdfs:label>Thumb stiffness - brachydactyly - intellectual disability</rdfs:label>
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