{
  "url": "https://dantelabs.com/genes/nod2",
  "gene": {
    "slug": "nod2",
    "symbol": "NOD2",
    "name": "nucleotide binding oligomerization domain containing 2",
    "hgnc": "HGNC:5331",
    "summary": null,
    "location": "16q12.1",
    "locusType": "gene with protein product",
    "aliases": [
      "BLAU",
      "CD",
      "PSORAS1",
      "CLR16.3",
      "NLRC2"
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    "previousSymbols": [
      "IBD1",
      "CARD15"
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    "ensemblId": "ENSG00000167207",
    "entrezId": 64127,
    "omim": [
      "605956"
    ],
    "uniprot": [
      "Q9HC29"
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    "model": {
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      "release": "v1.5",
      "chrom": "16",
      "start": 50693606,
      "end": 50733075,
      "strand": "+",
      "ensemblTranscript": "ENST00000647318.2",
      "refseqTranscript": "NM_001370466.1",
      "ensemblProtein": "ENSP00000495993.1",
      "refseqProtein": "NP_001357395.1",
      "exons": [
        {
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          "end": 50729901
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          "end": 50733075
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      ],
      "cds": {
        "start": 50699496,
        "end": 50731819
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    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "16",
      "start": 50727514,
      "end": 50766988,
      "strand": "+"
    },
    "neighbourhood": {
      "release": "116",
      "start": 50213341,
      "end": 51213340,
      "genes": [
        {
          "symbol": "TENT4B",
          "ensemblId": "ENSG00000121274",
          "biotype": "protein_coding",
          "start": 50152901,
          "end": 50235310,
          "strand": "+",
          "slug": "tent4b"
        },
        {
          "symbol": "ADCY7",
          "ensemblId": "ENSG00000121281",
          "biotype": "protein_coding",
          "start": 50244699,
          "end": 50318607,
          "strand": "+",
          "slug": "adcy7"
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        {
          "symbol": "BRD7",
          "ensemblId": "ENSG00000166164",
          "biotype": "protein_coding",
          "start": 50313487,
          "end": 50369059,
          "strand": "-",
          "slug": "brd7"
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        {
          "symbol": "NKD1",
          "ensemblId": "ENSG00000140807",
          "biotype": "protein_coding",
          "start": 50548312,
          "end": 50649249,
          "strand": "+",
          "slug": "nkd1"
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        {
          "symbol": "SNX20",
          "ensemblId": "ENSG00000167208",
          "biotype": "protein_coding",
          "start": 50666300,
          "end": 50681743,
          "strand": "-",
          "slug": "snx20"
        },
        {
          "symbol": "CYLD",
          "ensemblId": "ENSG00000083799",
          "biotype": "protein_coding",
          "start": 50742032,
          "end": 50801935,
          "strand": "+",
          "slug": "cyld"
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        {
          "symbol": "SALL1",
          "ensemblId": "ENSG00000103449",
          "biotype": "protein_coding",
          "start": 51135841,
          "end": 51152683,
          "strand": "-",
          "slug": "sall1"
        }
      ],
      "truncated": false
    },
    "reports": [
      {
        "slug": "autoimmune-disease",
        "name": "Autoimmune Disease",
        "diseases": [
          {
            "mondoId": "MONDO:0008523",
            "name": "Blau Syndrome",
            "genes": 1,
            "inheritance": "autosomal-dominant",
            "description": "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.",
            "management": null,
            "evidence": {
              "gencc": [
                "ClinGen",
                "G2P",
                "Genomics England PanelApp",
                "Illumina",
                "Labcorp Genetics (formerly Invitae)",
                "PanelApp Australia"
              ],
              "clingen": "Definitive",
              "acmgSf": false,
              "inheritance": [
                "autosomal-dominant"
              ]
            },
            "sameAsReport": false,
            "broad": false
          }
        ],
        "url": "https://dantelabs.com/conditions/autoimmune-disease"
      }
    ],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-pain",
        "name": "Abdominal pain",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-pain"
      },
      {
        "slug": "abnormal-choroid-morphology",
        "name": "Abnormal choroid morphology",
        "systems": [
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        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-choroid-morphology"
      },
      {
        "slug": "abnormal-cranial-nerve-morphology",
        "name": "Abnormal cranial nerve morphology",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-cranial-nerve-morphology"
      },
      {
        "slug": "abnormal-inflammatory-response",
        "name": "Abnormal inflammatory response",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-inflammatory-response"
      },
      {
        "slug": "abnormal-retinal-vascular-morphology",
        "name": "Abnormality of retina blood vessels",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-retinal-vascular-morphology"
      },
      {
        "slug": "abnormality-of-the-ear",
        "name": "Abnormality of the ear",
        "systems": [],
        "url": "https://dantelabs.com/traits/abnormality-of-the-ear"
      },
      {
        "slug": "abnormality-of-the-liver",
        "name": "Abnormality of the liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-liver"
      },
      {
        "slug": "abnormal-salivary-gland-morphology",
        "name": "Abnormality of the salivary glands",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-salivary-gland-morphology"
      },
      {
        "slug": "arthritis",
        "name": "Arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthritis"
      },
      {
        "slug": "asthma",
        "name": "Asthma",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/asthma"
      },
      {
        "slug": "band-keratopathy",
        "name": "Band keratopathy",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/band-keratopathy"
      },
      {
        "slug": "facial-palsy",
        "name": "Bell's palsy",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-musculoskeletal-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/facial-palsy"
      },
      {
        "slug": "dyspnea",
        "name": "Breathing difficulty",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/dyspnea"
      },
      {
        "slug": "aortic-aneurysm",
        "name": "Bulge in wall of large artery that carries blood away from heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/aortic-aneurysm"
      },
      {
        "slug": "aphthous-ulcer",
        "name": "Canker sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "url": "https://dantelabs.com/traits/aphthous-ulcer"
      },
      {
        "slug": "chest-pain",
        "name": "Chest pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chest-pain"
      },
      {
        "slug": "clear-cell-renal-cell-carcinoma",
        "name": "Clear cell renal cell carcinoma",
        "systems": [
          "abnormality-of-the-genitourinary-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/clear-cell-renal-cell-carcinoma"
      },
      {
        "slug": "cataract",
        "name": "Clouding of the lens of the eye",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/cataract"
      },
      {
        "slug": "keratitis",
        "name": "Corneal inflammation",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/keratitis"
      },
      {
        "slug": "crohn-s-disease",
        "name": "Crohn's disease",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/crohn-s-disease"
      },
      {
        "slug": "cystoid-macular-edema",
        "name": "Cystoid macular edema",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "url": "https://dantelabs.com/traits/cystoid-macular-edema"
      },
      {
        "slug": "xerostomia",
        "name": "Decreased salivary flow",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/xerostomia"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "keratoconjunctivitis-sicca",
        "name": "Dry eye syndrome",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/keratoconjunctivitis-sicca"
      },
      {
        "slug": "dry-skin",
        "name": "Dry skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/dry-skin"
      },
      {
        "slug": "eczematoid-dermatitis",
        "name": "Eczema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "url": "https://dantelabs.com/traits/eczematoid-dermatitis"
      },
      {
        "slug": "recurrent-fever",
        "name": "Episodic fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/recurrent-fever"
      },
      {
        "slug": "erythema-nodosum",
        "name": "Erythema nodosum",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/erythema-nodosum"
      },
      {
        "slug": "photophobia",
        "name": "Extreme sensitivity of the eyes to light",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/photophobia"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "flexion-contracture-of-toe",
        "name": "Flexion contracture of toe",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/flexion-contracture-of-toe"
      },
      {
        "slug": "glaucoma",
        "name": "Glaucoma",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/glaucoma"
      },
      {
        "slug": "growth-delay",
        "name": "Growth delay",
        "systems": [
          "growth-abnormality"
        ],
        "url": "https://dantelabs.com/traits/growth-delay"
      },
      {
        "slug": "hypertension",
        "name": "High blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypertension"
      },
      {
        "slug": "elevated-erythrocyte-sedimentation-rate",
        "name": "High ESR",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate"
      },
      {
        "slug": "ichthyosis",
        "name": "Ichthyosis",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ichthyosis"
      },
      {
        "slug": "pulmonary-arterial-hypertension",
        "name": "Increased blood pressure in blood vessels of lungs",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-respiratory-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pulmonary-arterial-hypertension"
      },
      {
        "slug": "splenomegaly",
        "name": "Increased spleen size",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/splenomegaly"
      },
      {
        "slug": "iritis",
        "name": "Inflammation of iris",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/iritis"
      },
      {
        "slug": "inflammation-of-the-large-intestine",
        "name": "Inflammation of the large intestine",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/inflammation-of-the-large-intestine"
      },
      {
        "slug": "pleuritis",
        "name": "Inflammation of tissues lining lungs and chest",
        "systems": [
          "abnormality-of-the-respiratory-system"
        ],
        "url": "https://dantelabs.com/traits/pleuritis"
      },
      {
        "slug": "inflammatory-abnormality-of-the-skin",
        "name": "Inflammatory abnormality of the skin",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-skin"
      },
      {
        "slug": "intermittent-generalized-erythematous-papular-rash",
        "name": "Intermittent generalized erythematous papular rash",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/intermittent-generalized-erythematous-papular-rash"
      },
      {
        "slug": "intestinal-fistula",
        "name": "Intestinal fistula",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intestinal-fistula"
      },
      {
        "slug": "intestinal-obstruction",
        "name": "Intestinal obstruction",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "url": "https://dantelabs.com/traits/intestinal-obstruction"
      },
      {
        "slug": "iridocyclitis",
        "name": "Iridocyclitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/iridocyclitis"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "joint-swelling",
        "name": "Joint swelling",
        "systems": [
          "abnormality-of-metabolism-homeostasis",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/joint-swelling"
      },
      {
        "slug": "nephropathy",
        "name": "Kidney damage",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nephropathy"
      },
      {
        "slug": "kidney-stone",
        "name": "Kidney stone",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "url": "https://dantelabs.com/traits/kidney-stone"
      },
      {
        "slug": "large-vessel-vasculitis",
        "name": "Large vessel vasculitis",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/large-vessel-vasculitis"
      },
      {
        "slug": "limitation-of-joint-mobility",
        "name": "Limitation of joint mobility",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/limitation-of-joint-mobility"
      },
      {
        "slug": "anemia",
        "name": "Low number of red blood cells or hemoglobin",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/anemia"
      },
      {
        "slug": "oral-ulcer",
        "name": "Mouth sore",
        "systems": [
          "abnormality-of-head-or-neck"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/oral-ulcer"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "nongranulomatous-uveitis",
        "name": "Nongranulomatous uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/nongranulomatous-uveitis"
      },
      {
        "slug": "retinopathy",
        "name": "Noninflammatory retina disease",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retinopathy"
      },
      {
        "slug": "skin-ulcer",
        "name": "Open skin sore",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/skin-ulcer"
      },
      {
        "slug": "abnormal-optic-nerve-morphology",
        "name": "Optic nerve issue",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-optic-nerve-morphology"
      },
      {
        "slug": "papule",
        "name": "Papule",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/papule"
      },
      {
        "slug": "hyperpigmentation-of-the-skin",
        "name": "Patchy darkened skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hyperpigmentation-of-the-skin"
      },
      {
        "slug": "camptodactyly-of-finger",
        "name": "Permanent flexion of the finger",
        "systems": [
          "abnormality-of-limbs",
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/camptodactyly-of-finger"
      },
      {
        "slug": "polyarticular-arthritis",
        "name": "Polyarticular arthritis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/polyarticular-arthritis"
      },
      {
        "slug": "posterior-uveitis",
        "name": "Posterior uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/posterior-uveitis"
      },
      {
        "slug": "recurrent-aphthous-stomatitis",
        "name": "Recurrent canker sores",
        "systems": [
          "abnormality-of-head-or-neck",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/recurrent-aphthous-stomatitis"
      },
      {
        "slug": "erythema",
        "name": "Redness of skin or mucous membrane",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/erythema"
      },
      {
        "slug": "retrobulbar-optic-neuritis",
        "name": "Retrobulbar optic neuritis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/retrobulbar-optic-neuritis"
      },
      {
        "slug": "skin-rash",
        "name": "Skin rash",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/skin-rash"
      },
      {
        "slug": "stage-5-chronic-kidney-disease",
        "name": "Stage 5 chronic kidney disease",
        "systems": [
          "abnormality-of-the-genitourinary-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease"
      },
      {
        "slug": "pericarditis",
        "name": "Swelling or irritation of membrane around heart",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pericarditis"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "synovitis",
        "name": "Synovitis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/synovitis"
      },
      {
        "slug": "tendonitis",
        "name": "Tendonitis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "url": "https://dantelabs.com/traits/tendonitis"
      },
      {
        "slug": "ulcerative-colitis",
        "name": "Ulcerative colitis",
        "systems": [
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "url": "https://dantelabs.com/traits/ulcerative-colitis"
      },
      {
        "slug": "uveitis",
        "name": "Uveitis",
        "systems": [
          "abnormality-of-the-eye",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/uveitis"
      },
      {
        "slug": "ventricular-hypertrophy",
        "name": "Ventricular hypertrophy",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "url": "https://dantelabs.com/traits/ventricular-hypertrophy"
      },
      {
        "slug": "visual-loss",
        "name": "Visual loss",
        "systems": [
          "abnormality-of-the-eye"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/visual-loss"
      },
      {
        "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": []
  }
}