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        <DocumentSummarySet status="OK"><DbBuild>Build240412-0757.1</DbBuild><DocumentSummary
        uid="336867"><ConceptId>C1845167</ConceptId><Title>Dent disease type 2</Title><Definition>Dent
        disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized
        by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one
        additional finding including nephrocalcinosis, nephrolithiasis, hematuria,
        hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance.
        Males younger than age ten years may manifest only LMW proteinuria and/or
        hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected
        males develop end-stage renal disease (ESRD) between ages 30 and 50 years;
        in some instances ESRD does not develop until the sixth decade of life or
        later. The disease may also be accompanied by rickets or osteomalacia, growth
        restriction, and short stature. Disease severity can vary within the same
        family. Males with Dent disease 2 (caused by pathogenic variants in OCRL)
        may also have mild intellectual disability, cataracts, and/or elevated muscle
        enzymes. Due to random X-chromosome inactivation, some female carriers may
        manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria.
        Females rarely develop CKD.</Definition><SemanticId>T047</SemanticId><SemanticType>Disease
        or Syndrome</SemanticType><Suppressed/><ConceptMeta><Names><Name SDUI="300555"
        CODE="300555" SAB="OMIM" TTY="PT" type="syn">DENT DISEASE 2</Name><Name SDUI="C564487"
        SCUI="M0564787" CODE="C564487" SAB="MSH" TTY="NM" type="syn">Dent Disease
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        TTY="PT" type="preferred">Dent disease type 2</Name><Name SDUI="300555" CODE="300555"
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        SAB="GTR" TTY="PT" type="preferred">Dent disease type 2</Name><Name SDUI="MONDO:0010359"
        SCUI="GTRT000001952" CODE="MONDO_0010359" SAB="MONDO" TTY="PT" type="preferred">Dent
        disease type 2</Name><Name SDUI="MONDO:0010359" SCUI="GTRT000001952" CODE="AN1593121"
        SAB="MONDO" TTY="SYN" type="syn">OCRL Dent disease</Name><Name SDUI="MONDO:0010359"
        SCUI="GTRT000001952" CODE="AN1596872" SAB="MONDO" TTY="SYN" type="syn">Dent
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        CODE="AN1596873" SAB="MONDO" TTY="SYN" type="syn">nephrolithiasis type 2</Name><Name
        SDUI="MONDO:0010359" SCUI="GTRT000001952" CODE="AN1653716" SAB="MONDO" TTY="SYN"
        type="syn">DENT disease 2</Name><Name SDUI="MONDO:0010359" SCUI="GTRT000001952"
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        SCUI="GTRT000001952" CODE="MONDO_0010359" SAB="MONDO" TTY="SYN" type="syn">dent
        disease 2, X-linked recessive</Name></Names><Definitions><Definition source="GeneReviews">Dent
        disease, an X-linked disorder of proximal renal tubular dysfunction, is characterized
        by low molecular weight (LMW) proteinuria, hypercalciuria, and at least one
        additional finding including nephrocalcinosis, nephrolithiasis, hematuria,
        hypophosphatemia, chronic kidney disease (CKD), and evidence of X-linked inheritance.
        Males younger than age ten years may manifest only LMW proteinuria and/or
        hypercalciuria, which are usually asymptomatic. Thirty to 80% of affected
        males develop end-stage renal disease (ESRD) between ages 30 and 50 years;
        in some instances ESRD does not develop until the sixth decade of life or
        later. The disease may also be accompanied by rickets or osteomalacia, growth
        restriction, and short stature. Disease severity can vary within the same
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        may also have mild intellectual disability, cataracts, and/or elevated muscle
        enzymes. Due to random X-chromosome inactivation, some female carriers may
        manifest hypercalciuria and, rarely, renal calculi and moderate LMW proteinuria.
        Females rarely develop CKD.</Definition></Definitions><Chromosome>X</Chromosome><Cytogenetic>Xq26.1</Cytogenetic><ModesOfInheritance><ModeOfInheritance
        uid="375779" CUI="C1845977" TUI="T033"><Name>X-linked recessive inheritance</Name><SemanticType>Finding</SemanticType><Definition>A
        mode of inheritance that is observed for recessive traits related to a gene
        encoded on the X chromosome. In the context of medical genetics, X-linked
        recessive disorders manifest in males (who have one copy of the X chromosome
        and are thus hemizygotes), but generally not in female heterozygotes who have
        one mutant and one normal allele.</Definition><SAB>ORDO</SAB></ModeOfInheritance></ModesOfInheritance><PharmacologicResponse></PharmacologicResponse><OMIM><MIM>300555</MIM></OMIM><ClinicalFeatures><ClinicalFeature
        uid="9232" CUI="C0019322" TUI="T190" SDUI="HP:0001537"><Name>Umbilical hernia</Name><SemanticType>Anatomical
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        a defect in the abdominal wall musculature around the umbilicus. Skin and
        subcutaneous tissue overlie the defect.</Definition></ClinicalFeature><ClinicalFeature
        uid="43775" CUI="C0020438" TUI="T033" SDUI="HP:0002150"><Name>Hypercalciuria</Name><SemanticType>Finding</SemanticType><Definition>Abnormally
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