{
  "url": "https://dantelabs.com/no/genes/srsf2",
  "gene": {
    "slug": "srsf2",
    "symbol": "SRSF2",
    "name": "serine and arginine rich splicing factor 2",
    "hgnc": "HGNC:10783",
    "summary": null,
    "location": "17q25.2",
    "locusType": "gene with protein product",
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      "SC-35",
      "SC35",
      "PR264",
      "SFRS2A"
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    "previousSymbols": [
      "SFRS2"
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    "ensemblId": "ENSG00000161547",
    "entrezId": 6427,
    "omim": [
      "600813"
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    "uniprot": [
      "Q01130"
    ],
    "model": {
      "build": "GRCh38",
      "release": "v1.5",
      "chrom": "17",
      "start": 76734115,
      "end": 76737331,
      "strand": "-",
      "ensemblTranscript": "ENST00000359995.10",
      "refseqTranscript": "NM_001195427.2",
      "ensemblProtein": "ENSP00000353089.5",
      "refseqProtein": "NP_001182356.1",
      "exons": [
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          "end": 76735158
        },
        {
          "start": 76736154,
          "end": 76736464
        },
        {
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          "end": 76737331
        }
      ],
      "cds": {
        "start": 76736161,
        "end": 76737160
      }
    },
    "grch37": {
      "build": "GRCh37",
      "release": "87",
      "chrom": "17",
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      "end": 74733456,
      "strand": "-"
    },
    "neighbourhood": {
      "release": "116",
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      "end": 77235722,
      "genes": [
        {
          "symbol": "RNF157",
          "ensemblId": "ENSG00000141576",
          "biotype": "protein_coding",
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          "end": 76240662,
          "strand": "-",
          "slug": "rnf157"
        },
        {
          "symbol": "UBALD2",
          "ensemblId": "ENSG00000185262",
          "biotype": "protein_coding",
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          "end": 76271298,
          "strand": "+",
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        {
          "symbol": "QRICH2",
          "ensemblId": "ENSG00000129646",
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        {
          "symbol": "PRPSAP1",
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          "end": 76384521,
          "strand": "-",
          "slug": "prpsap1"
        },
        {
          "symbol": "SPHK1",
          "ensemblId": "ENSG00000176170",
          "biotype": "protein_coding",
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        {
          "symbol": "UBE2O",
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        {
          "symbol": "AANAT",
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          "strand": "+",
          "slug": "aanat"
        },
        {
          "symbol": "RHBDF2",
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          "end": 76501790,
          "strand": "-",
          "slug": "rhbdf2"
        },
        {
          "symbol": "CYGB",
          "ensemblId": "ENSG00000161544",
          "biotype": "protein_coding",
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          "slug": "cygb"
        },
        {
          "symbol": "PRCD",
          "ensemblId": "ENSG00000214140",
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          "start": 76527586,
          "end": 76553578,
          "strand": "+",
          "slug": "prcd"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000284526",
          "biotype": "protein_coding",
          "start": 76563710,
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          "strand": "-"
        },
        {
          "symbol": "ST6GALNAC2",
          "ensemblId": "ENSG00000070731",
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          "slug": "st6galnac2"
        },
        {
          "symbol": "ST6GALNAC1",
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        {
          "symbol": "MXRA7",
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          "strand": "-",
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        },
        {
          "symbol": "JMJD6",
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          "biotype": "protein_coding",
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          "slug": "jmjd6"
        },
        {
          "symbol": "METTL23",
          "ensemblId": "ENSG00000181038",
          "biotype": "protein_coding",
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          "end": 76735416,
          "strand": "+",
          "slug": "mettl23"
        },
        {
          "symbol": "",
          "ensemblId": "ENSG00000267168",
          "biotype": "protein_coding",
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          "end": 76738522,
          "strand": "+"
        },
        {
          "symbol": "MFSD11",
          "ensemblId": "ENSG00000092931",
          "biotype": "protein_coding",
          "start": 76735865,
          "end": 76789874,
          "strand": "+",
          "slug": "mfsd11"
        },
        {
          "symbol": "MGAT5B",
          "ensemblId": "ENSG00000167889",
          "biotype": "protein_coding",
          "start": 76868134,
          "end": 76950393,
          "strand": "+",
          "slug": "mgat5b"
        },
        {
          "symbol": "SEC14L1",
          "ensemblId": "ENSG00000129657",
          "biotype": "protein_coding",
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          "strand": "+",
          "slug": "sec14l1"
        }
      ],
      "truncated": false
    },
    "reports": [],
    "pharmacogenomics": [],
    "traits": [],
    "phenotypes": [
      {
        "slug": "abdominal-cramps",
        "name": "Abdominal cramps",
        "systems": [
          "abnormality-of-the-digestive-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/abdominal-cramps"
      },
      {
        "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-blistering-of-the-skin",
        "name": "Abnormal blistering of the skin",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin"
      },
      {
        "slug": "abnormal-mast-cell-morphology",
        "name": "Abnormal mast cell morphology",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/abnormal-mast-cell-morphology"
      },
      {
        "slug": "abnormal-skin-morphology",
        "name": "Abnormal skin structure",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormal-skin-morphology"
      },
      {
        "slug": "abnormality-of-the-respiratory-system",
        "name": "Abnormality of the respiratory system",
        "systems": [],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/abnormality-of-the-respiratory-system"
      },
      {
        "slug": "ascites",
        "name": "Accumulation of fluid in the abdomen",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/ascites"
      },
      {
        "slug": "acute-myeloid-leukemia",
        "name": "Acute myeloid leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/acute-myeloid-leukemia"
      },
      {
        "slug": "amyloid-deposition",
        "name": "Amyloid deposition",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/amyloid-deposition"
      },
      {
        "slug": "anaphylactic-shock",
        "name": "Anaphylaxis",
        "systems": [
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anaphylactic-shock"
      },
      {
        "slug": "anorexia",
        "name": "Anorexia",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/anorexia"
      },
      {
        "slug": "leukemia",
        "name": "Blood cancer",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/leukemia"
      },
      {
        "slug": "hematological-neoplasm",
        "name": "Blood tumor",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/hematological-neoplasm"
      },
      {
        "slug": "bone-marrow-hypercellularity",
        "name": "Bone marrow hypercellularity",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-marrow-hypercellularity"
      },
      {
        "slug": "bone-pain",
        "name": "Bone pain",
        "systems": [
          "abnormality-of-the-musculoskeletal-system",
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/bone-pain"
      },
      {
        "slug": "osteolysis",
        "name": "Breakdown of bone",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/osteolysis"
      },
      {
        "slug": "lymphoma",
        "name": "Cancer of lymphatic system",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/lymphoma"
      },
      {
        "slug": "chronic-lymphatic-leukemia",
        "name": "Chronic lymphatic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/chronic-lymphatic-leukemia"
      },
      {
        "slug": "chronic-myelomonocytic-leukemia",
        "name": "Chronic myelomonocytic leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/chronic-myelomonocytic-leukemia"
      },
      {
        "slug": "constitutional-symptom",
        "name": "Constitutional symptom",
        "systems": [],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/constitutional-symptom"
      },
      {
        "slug": "decreased-liver-function",
        "name": "Decreased liver function",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-liver-function"
      },
      {
        "slug": "diarrhea",
        "name": "Diarrhea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/diarrhea"
      },
      {
        "slug": "elevated-circulating-alkaline-phosphatase-concentration",
        "name": "Elevated alkaline phosphatase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/elevated-circulating-alkaline-phosphatase-concentration"
      },
      {
        "slug": "tachycardia",
        "name": "Elevated heart rate",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/tachycardia"
      },
      {
        "slug": "elevated-total-serum-tryptase",
        "name": "Elevated total serum tryptase",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/elevated-total-serum-tryptase"
      },
      {
        "slug": "increased-total-leukocyte-count",
        "name": "Elevated white blood count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-leukocyte-count"
      },
      {
        "slug": "hepatomegaly",
        "name": "Enlarged liver",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hepatomegaly"
      },
      {
        "slug": "hepatosplenomegaly",
        "name": "Enlarged liver and spleen",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hepatosplenomegaly"
      },
      {
        "slug": "syncope",
        "name": "Fainting spell",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/syncope"
      },
      {
        "slug": "fatigue",
        "name": "Fatigue",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fatigue"
      },
      {
        "slug": "fever",
        "name": "Fever",
        "systems": [
          "abnormality-of-metabolism-homeostasis"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/fever"
      },
      {
        "slug": "flushing",
        "name": "Flushing",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/flushing"
      },
      {
        "slug": "gastrointestinal-hemorrhage",
        "name": "Gastrointestinal bleeding",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage"
      },
      {
        "slug": "granulocytic-hyperplasia",
        "name": "Granulocytic hyperplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/granulocytic-hyperplasia"
      },
      {
        "slug": "headache",
        "name": "Headache",
        "systems": [
          "abnormality-of-the-nervous-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/headache"
      },
      {
        "slug": "increased-total-eosinophil-count",
        "name": "High blood eosinophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-total-eosinophil-count"
      },
      {
        "slug": "urticaria",
        "name": "Hives",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/urticaria"
      },
      {
        "slug": "hypersplenism",
        "name": "Hypersplenism",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/hypersplenism"
      },
      {
        "slug": "increased-total-neutrophil-count",
        "name": "Increased blood neutrophil counts",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-neutrophil-count"
      },
      {
        "slug": "increased-cd25-mast-cell-proportion",
        "name": "Increased CD25+ mast cell proportion",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/increased-cd25-mast-cell-proportion"
      },
      {
        "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": "increased-susceptibility-to-fractures",
        "name": "Increased susceptibility to fractures",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-susceptibility-to-fractures"
      },
      {
        "slug": "increased-total-basophil-count",
        "name": "Increased total basophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/increased-total-basophil-count"
      },
      {
        "slug": "pruritus",
        "name": "Itching",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pruritus"
      },
      {
        "slug": "arthralgia",
        "name": "Joint pain",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/arthralgia"
      },
      {
        "slug": "pancytopenia",
        "name": "Low blood cell count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pancytopenia"
      },
      {
        "slug": "decreased-total-neutrophil-count",
        "name": "Low blood neutrophil count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count"
      },
      {
        "slug": "hypotension",
        "name": "Low blood pressure",
        "systems": [
          "abnormality-of-the-cardiovascular-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/hypotension"
      },
      {
        "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": "thrombocytopenia",
        "name": "Low platelet count",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/thrombocytopenia"
      },
      {
        "slug": "maculopapular-exanthema",
        "name": "Maculopapular exanthema",
        "systems": [
          "abnormality-of-the-immune-system",
          "abnormality-of-the-integument"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/maculopapular-exanthema"
      },
      {
        "slug": "malabsorption",
        "name": "Malabsorption",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/malabsorption"
      },
      {
        "slug": "multiple-myeloma",
        "name": "Multiple myeloma",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "very-rare",
        "url": "https://dantelabs.com/traits/multiple-myeloma"
      },
      {
        "slug": "myalgia",
        "name": "Muscle ache",
        "systems": [
          "constitutional-symptom"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myalgia"
      },
      {
        "slug": "myelodysplasia",
        "name": "Myelodysplasia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "neoplasm"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/myelodysplasia"
      },
      {
        "slug": "myeloid-leukemia",
        "name": "Myeloid leukemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "very-frequent",
        "url": "https://dantelabs.com/traits/myeloid-leukemia"
      },
      {
        "slug": "myeloproliferative-disorder",
        "name": "Myeloproliferative disorder",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues",
          "abnormality-of-the-immune-system",
          "neoplasm"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/myeloproliferative-disorder"
      },
      {
        "slug": "nausea",
        "name": "Nausea",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/nausea"
      },
      {
        "slug": "normochromic-anemia",
        "name": "Normochromic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/normochromic-anemia"
      },
      {
        "slug": "normocytic-anemia",
        "name": "Normocytic anemia",
        "systems": [
          "abnormality-of-blood-and-blood-forming-tissues"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/normocytic-anemia"
      },
      {
        "slug": "osteoporosis",
        "name": "Osteoporosis",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/osteoporosis"
      },
      {
        "slug": "pallor",
        "name": "Paleness",
        "systems": [
          "abnormality-of-the-integument"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/pallor"
      },
      {
        "slug": "portal-hypertension",
        "name": "Portal hypertension",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/portal-hypertension"
      },
      {
        "slug": "peptic-ulcer",
        "name": "Sore in the lining of gastrointestinal tract",
        "systems": [
          "abnormality-of-the-digestive-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/peptic-ulcer"
      },
      {
        "slug": "pathologic-fracture",
        "name": "Spontaneous fracture",
        "systems": [
          "abnormality-of-the-musculoskeletal-system"
        ],
        "frequency": "occasional",
        "url": "https://dantelabs.com/traits/pathologic-fracture"
      },
      {
        "slug": "lymphadenopathy",
        "name": "Swollen lymph nodes",
        "systems": [
          "abnormality-of-the-cardiovascular-system",
          "abnormality-of-the-immune-system"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/lymphadenopathy"
      },
      {
        "slug": "weight-loss",
        "name": "Weight loss",
        "systems": [
          "growth-abnormality"
        ],
        "frequency": "frequent",
        "url": "https://dantelabs.com/traits/weight-loss"
      }
    ],
    "related": [],
    "sources": null,
    "locusKind": "proteinCoding"
  },
  "variants": {
    "total": 0,
    "url": null,
    "items": []
  }
}