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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/21474 -->

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        <rdfs:label>INPP5E</rdfs:label>
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        <rdfs:label>hereditary disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0012423 -->

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        <rdfs:label>MORM syndrome</rdfs:label>
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        <oboInOwl:hasRelatedSynonym>intellectual disability, truncal obesity, retinal dystrophy, and micropenis syndrome</oboInOwl:hasRelatedSynonym>
        <ns5:IAO_0000115>MORM syndrome is characterized by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.</ns5:IAO_0000115>
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