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        <rdfs:label>has material basis in germline mutation in</rdfs:label>
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    <!-- http://identifiers.org/hgnc/11559 -->

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        <rdfs:label>TALDO1</rdfs:label>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0011624 -->

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        <rdfs:label>transaldolase deficiency</rdfs:label>
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        <ns4:IAO_0000115>Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.</ns4:IAO_0000115>
        <oboInOwl:hasExactSynonym>transaldolase deficiency</oboInOwl:hasExactSynonym>
        <oboInOwl:hasDbXref>SCTID:124252008</oboInOwl:hasDbXref>
        <oboInOwl:id>MONDO:0011624</oboInOwl:id>
        <oboInOwl:hasDbXref>MESH:C563207</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>MEDGEN:224855</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Taldo deficiency</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>Orphanet:101028</oboInOwl:hasDbXref>
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        <oboInOwl:hasDbXref>icd11.foundation:424536994</oboInOwl:hasDbXref>
        <oboInOwl:hasRelatedSynonym>Eyaid syndrome</oboInOwl:hasRelatedSynonym>
        <oboInOwl:hasDbXref>GARD:0010445</oboInOwl:hasDbXref>
        <oboInOwl:hasDbXref>OMIM:606003</oboInOwl:hasDbXref>
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    <!-- http://purl.obolibrary.org/obo/MONDO_0019231 -->

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        <rdfs:label>inborn disorder of pentose phosphate metabolism</rdfs:label>
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