{
  "url": "https://dantelabs.com/cs/genes/elf4",
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        "name": "Rare Monogenic Autoinflammatory Diseases",
        "diseases": [
          {
            "mondoId": "MONDO:0024770",
            "name": "ELF4 deficiency (Behcet-like autoinflammatory syndrome 2)",
            "genes": 1,
            "inheritance": "x-linked-recessive",
            "description": "Mouth ulcers, fevers and gut inflammation in males, caused by variants in ELF4.",
            "management": null,
            "evidence": {
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              "clingen": "Definitive",
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              "inheritance": []
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        ],
        "url": "https://dantelabs.com/cs/conditions/rare-monogenic-autoinflammatory-diseases"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
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        "name": "Abdominal pain",
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        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
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        "url": "https://dantelabs.com/traits/anoperineal-fistula"
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      {
        "slug": "arthritis",
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "chronic-constipation",
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-constipation"
      },
      {
        "slug": "chronic-gastritis",
        "name": "Chronic gastritis",
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        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/chronic-gastritis"
      },
      {
        "slug": "colitis",
        "name": "Colitis",
        "systems": [
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          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/colitis"
      },
      {
        "slug": "decreased-memory-b-cell-proportion",
        "name": "Decreased memory B cell proportion",
        "systems": [
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          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/decreased-memory-b-cell-proportion"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elevated-circulating-c-reactive-protein-concentration",
        "name": "Elevated circulating C-reactive protein concentration",
        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration"
      },
      {
        "slug": "recurrent-fever",
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        "systems": [
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        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
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        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "increased-total-lymphocyte-count",
        "name": "High lymphocyte count",
        "systems": [
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          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-lymphocyte-count"
      },
      {
        "slug": "increased-circulating-interleukin-6-concentration",
        "name": "Increased circulating interleukin 6 concentration",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/increased-circulating-interleukin-6-concentration"
      },
      {
        "slug": "thrombocytosis",
        "name": "Increased number of platelets in blood",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytosis"
      },
      {
        "slug": "esophagitis",
        "name": "Inflammation of the esophagus",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/esophagitis"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "iron-deficiency-anemia",
        "name": "Iron deficiency anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/iron-deficiency-anemia"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "perianal-abscess",
        "name": "Perianal abscess",
        "systems": [
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          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/perianal-abscess"
      },
      {
        "slug": "recurrent-respiratory-infections",
        "name": "Recurrent respiratory infections",
        "systems": [
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          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/recurrent-respiratory-infections"
      },
      {
        "slug": "reduced-total-natural-killer-cell-count",
        "name": "Reduced total natural killer cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
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          "abnormality-of-the-integument"
        ],
        "frequency": "obligate",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [],
    "sources": {
      "bundleId": "2026.10.17-8666dff2",
      "panel": "2026-10-17",
      "acmgSf": "SF v3.2"
    },
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}