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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/4877 -->

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        <rdfs:label>HESX1</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0000429 -->

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        <rdfs:label>autosomal genetic disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0002254 -->

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        <rdfs:label>syndromic disease</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0008428 -->

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        <rdfs:label>septooptic dysplasia</rdfs:label>
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        <ns5:IAO_0000233 rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://github.com/monarch-initiative/mondo/pull/2571/</ns5:IAO_0000233>
        <ns3:curated_content_resource rdf:datatype="http://www.w3.org/2001/XMLSchema#anyURI">https://www.malacards.org/card/septooptic_dysplasia</ns3:curated_content_resource>
        <oboInOwl:hasDbXref>SCTID:7611002</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>septo-optic dysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasExactSynonym>De Morsier syndrome</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>MedDRA:10067159</oboInOwl:hasDbXref>
        <oboInOwl:hasExactSynonym>septooptic dysplasia</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>DOID:0060857</oboInOwl:hasDbXref>
        <ns5:IAO_0000115>Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.</ns5:IAO_0000115>
        <oboInOwl:hasDbXref>UMLS:C0338503</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>septo-optic dysplasia with growth hormone deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasRelatedSynonym>hypopituitarism and septooptic &#39;dysplasia&#39;</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasExactSynonym>SOD</oboInOwl:hasExactSynonym>
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        <oboInOwl:hasDbXref>NANDO:1200560</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>NANDO:1200561</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>MESH:D025962</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>Orphanet:3157</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0013099 -->

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        <rdfs:label>combined pituitary hormone deficiencies, genetic form</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0015218 -->

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        <rdfs:label>obsolete syndromic developmental defect of the eye</rdfs:label>
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        <rdfs:label>obsolete syndromic optic nerve hypoplasia</rdfs:label>
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        <rdfs:label>obsolete neuro-ophthalmological disease</rdfs:label>
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        <rdfs:label>obsolete disease associated with non-acquired combined pituitary hormone deficiency</rdfs:label>
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        <rdfs:label>obsolete developmental defect of the eye</rdfs:label>
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