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    <AnnotationProperty rdf:about="http://purl.obolibrary.org/obo/IAO_0000233"/>
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        <rdf:type rdf:resource="http://www.w3.org/2002/07/owl#TransitiveProperty"/>
        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/24912 -->

    <Class rdf:about="http://identifiers.org/hgnc/24912">
        <rdfs:label>LARP7</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0002254">
        <rdfs:label>syndromic disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0014031 -->

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        <rdfs:label>microcephalic primordial dwarfism, Alazami type</rdfs:label>
        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0002254"/>
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        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6751</ns4:IAO_0000233>
        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/6877</ns4:IAO_0000233>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/alazami_syndrome</ns5:curated_content_resource>
        <oboInOwl:hasExactSynonym>Alazami syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasRelatedSynonym>ALAZS</oboInOwl:hasRelatedSynonym>
        <oboInOwl:id>MONDO:0014031</oboInOwl:id>
        <oboInOwl:hasDbXref>GARD:0017468</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:615071</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>Orphanet:319671</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C3554439</oboInOwl:hasDbXref>
        <ns4:IAO_0000115>Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>MEDGEN:767353</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0800063 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0800063">
        <rdfs:label>primordial dwarfism and slender bone disorder</rdfs:label>
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