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    <!-- http://purl.obolibrary.org/obo/RO_0004003 -->

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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/3688 -->

    <Class rdf:about="http://identifiers.org/hgnc/3688">
        <rdfs:label>FGFR1</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0006574 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0006574">
        <rdfs:label>lipomatosis</rdfs:label>
    </Class>
    


    <!-- http://purl.obolibrary.org/obo/MONDO_0013074 -->

    <Class rdf:about="http://purl.obolibrary.org/obo/MONDO_0013074">
        <rdfs:label>encephalocraniocutaneous lipomatosis</rdfs:label>
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        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0019296"/>
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        <rdfs:subClassOf rdf:resource="http://purl.obolibrary.org/obo/MONDO_0100118"/>
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        <ns4:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/issues/4521</ns4:IAO_0000233>
        <rdfs:seeAlso rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://rarediseases.info.nih.gov/diseases/2108/encephalocraniocutaneous-lipomatosis</rdfs:seeAlso>
        <ns5:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/encephalocraniocutaneous_lipomatosis</ns5:curated_content_resource>
        <ns4:IAO_0000115>A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.</ns4:IAO_0000115>
        <oboInOwl:hasDbXref>Orphanet:2396</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>encephalocraniocutaneous lipomatosis, somatic mosaic</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:238905009</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:613001</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>ECCL</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>NCIT:C4701</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MESH:C535736</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>Fishman syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:id>MONDO:0013074</oboInOwl:id>
        <oboInOwl:hasExactSynonym>Haberland syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>GARD:0002108</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>UMLS:C0406612</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>icd11.foundation:1084215843</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>encephalocraniocutaneous lipomatosis</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MEDGEN:140807</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019296 -->

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        <rdfs:label>subcutaneous tissue disorder</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0021440 -->

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        <rdfs:label>benign neoplasm of skin</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0023603 -->

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        <rdfs:label>hereditary disorder of connective tissue</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0100118 -->

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        <rdfs:label>hereditary skin disorder</rdfs:label>
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