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  "url": "https://dantelabs.com/pt/genes/xdh",
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        {
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          "ensemblId": "ENSG00000158089",
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      ],
      "truncated": false
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      {
        "slug": "purine-and-pyrimidine-metabolism-disorders",
        "name": "Perturbações do Metabolismo das Purinas e Pirimidinas",
        "diseases": [
          {
            "mondoId": "MONDO:0018106",
            "name": "Xantinúria Hereditária",
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            "inheritance": "autosomal-recessive",
            "description": "Causada por variantes em XDH ou MOCOS, que provocam níveis muito baixos de ácido úrico e podem levar a cálculos renais de xantina.",
            "management": "Conhecer esta informação permite uma ingestão elevada de líquidos e uma dieta pobre em purinas para reduzir o risco de cálculos.",
            "evidence": {
              "gencc": [
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
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              "acmgSf": false,
              "inheritance": [
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            "sameAsReport": false,
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        ],
        "url": "https://dantelabs.com/pt/conditions/purine-and-pyrimidine-metabolism-disorders"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "hydronephrosis",
        "name": "Hydronephrosis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/hydronephrosis"
      },
      {
        "slug": "hyperxanthinemia",
        "name": "Hyperxanthinemia",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hyperxanthinemia"
      },
      {
        "slug": "impaired-renal-uric-acid-clearance",
        "name": "Impaired renal uric acid clearance",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/impaired-renal-uric-acid-clearance"
      },
      {
        "slug": "hypouricemia",
        "name": "Low blood uric acid levels",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/hypouricemia"
      },
      {
        "slug": "myopathy",
        "name": "Muscle tissue disease",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/myopathy"
      },
      {
        "slug": "pyelonephritis",
        "name": "Pyelonephritis",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/pyelonephritis"
      },
      {
        "slug": "reduced-circulating-xanthine-oxidase-activity",
        "name": "Reduced circulating xanthine oxidase activity",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-circulating-xanthine-oxidase-activity"
      },
      {
        "slug": "reduced-xanthine-dehydrogenase-level",
        "name": "Reduced xanthine dehydrogenase level",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "url": "https://dantelabs.com/traits/reduced-xanthine-dehydrogenase-level"
      },
      {
        "slug": "xanthine-nephrolithiasis",
        "name": "Xanthine nephrolithiasis",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/xanthine-nephrolithiasis"
      },
      {
        "slug": "xanthinuria",
        "name": "Xanthinuria",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/xanthinuria"
      }
    ],
    "related": [
      {
        "slug": "mocos",
        "symbol": "MOCOS",
        "name": "molybdenum cofactor sulfurase",
        "shared": 1,
        "url": "https://dantelabs.com/pt/genes/mocos"
      }
    ],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}