{
  "url": "https://dantelabs.com/traits/joint-swelling",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "joint-swelling",
    "id": "HP:0001386",
    "name": "Joint swelling",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-metabolism-homeostasis",
        "name": "Laboratory abnormality",
        "url": "https://dantelabs.com/traits/abnormality-of-metabolism-homeostasis"
      },
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-joint-morphology",
        "name": "Abnormal shape of joints",
        "url": "https://dantelabs.com/traits/abnormal-joint-morphology"
      },
      {
        "slug": "edema",
        "name": "Fluid retention",
        "url": "https://dantelabs.com/traits/edema"
      }
    ],
    "narrower": [],
    "genes": [
      {
        "slug": "asah1",
        "symbol": "ASAH1",
        "hgnc": "HGNC:735",
        "name": "N-acylsphingosine amidohydrolase 1",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/asah1"
      },
      {
        "slug": "gnb2",
        "symbol": "GNB2",
        "hgnc": "HGNC:4398",
        "name": "G protein subunit beta 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gnb2"
      },
      {
        "slug": "il1rn",
        "symbol": "IL1RN",
        "hgnc": "HGNC:6000",
        "name": "interleukin 1 receptor antagonist",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il1rn"
      },
      {
        "slug": "lpin2",
        "symbol": "LPIN2",
        "hgnc": "HGNC:14450",
        "name": "lipin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lpin2"
      },
      {
        "slug": "otulin",
        "symbol": "OTULIN",
        "hgnc": "HGNC:25118",
        "name": "OTU deubiquitinase with linear linkage specificity",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/otulin"
      },
      {
        "slug": "aip",
        "symbol": "AIP",
        "hgnc": "HGNC:358",
        "name": "AHR interacting HSP90 co-chaperone",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aip"
      },
      {
        "slug": "ankh",
        "symbol": "ANKH",
        "hgnc": "HGNC:15492",
        "name": "ANKH inorganic pyrophosphate transport regulator",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankh"
      },
      {
        "slug": "atp7b",
        "symbol": "ATP7B",
        "hgnc": "HGNC:870",
        "name": "ATPase copper transporting beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/atp7b"
      },
      {
        "slug": "ccn2",
        "symbol": "CCN2",
        "hgnc": "HGNC:2500",
        "name": "cellular communication network factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ccn2"
      },
      {
        "slug": "ccn6",
        "symbol": "CCN6",
        "hgnc": "HGNC:12771",
        "name": "cellular communication network factor 6",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ccn6"
      },
      {
        "slug": "fga",
        "symbol": "FGA",
        "hgnc": "HGNC:3661",
        "name": "fibrinogen alpha chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fga"
      },
      {
        "slug": "fgb",
        "symbol": "FGB",
        "hgnc": "HGNC:3662",
        "name": "fibrinogen beta chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgb"
      },
      {
        "slug": "fgg",
        "symbol": "FGG",
        "hgnc": "HGNC:3694",
        "name": "fibrinogen gamma chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fgg"
      },
      {
        "slug": "gpr101",
        "symbol": "GPR101",
        "hgnc": "HGNC:14963",
        "name": "G protein-coupled receptor 101",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gpr101"
      },
      {
        "slug": "hgd",
        "symbol": "HGD",
        "hgnc": "HGNC:4892",
        "name": "homogentisate 1,2-dioxygenase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hgd"
      },
      {
        "slug": "hla-b",
        "symbol": "HLA-B",
        "hgnc": "HGNC:4932",
        "name": "major histocompatibility complex, class I, B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hla-b"
      },
      {
        "slug": "hla-drb1",
        "symbol": "HLA-DRB1",
        "hgnc": "HGNC:4948",
        "name": "major histocompatibility complex, class II, DR beta 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hla-drb1"
      },
      {
        "slug": "il6",
        "symbol": "IL6",
        "hgnc": "HGNC:6018",
        "name": "interleukin 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il6"
      },
      {
        "slug": "lacc1",
        "symbol": "LACC1",
        "hgnc": "HGNC:26789",
        "name": "laccase domain multifunctional purine nucleosidase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lacc1"
      },
      {
        "slug": "mefv",
        "symbol": "MEFV",
        "hgnc": "HGNC:6998",
        "name": "MEFV innate immunity regulator, pyrin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mefv"
      },
      {
        "slug": "mif",
        "symbol": "MIF",
        "hgnc": "HGNC:7097",
        "name": "macrophage migration inhibitory factor",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mif"
      },
      {
        "slug": "nod2",
        "symbol": "NOD2",
        "hgnc": "HGNC:5331",
        "name": "nucleotide binding oligomerization domain containing 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/nod2"
      },
      {
        "slug": "tnfrsf11b",
        "symbol": "TNFRSF11B",
        "hgnc": "HGNC:11909",
        "name": "TNF receptor superfamily member 11b",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf11b"
      },
      {
        "slug": "tnfrsf1a",
        "symbol": "TNFRSF1A",
        "hgnc": "HGNC:11916",
        "name": "TNF receptor superfamily member 1A",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnfrsf1a"
      },
      {
        "slug": "acp5",
        "symbol": "ACP5",
        "hgnc": "HGNC:124",
        "name": "acid phosphatase 5, tartrate resistant",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/acp5"
      },
      {
        "slug": "ankrd55",
        "symbol": "ANKRD55",
        "hgnc": "HGNC:25681",
        "name": "ankyrin repeat domain 55",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ankrd55"
      },
      {
        "slug": "btnl2",
        "symbol": "BTNL2",
        "hgnc": "HGNC:1142",
        "name": "butyrophilin like 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/btnl2"
      },
      {
        "slug": "cd247",
        "symbol": "CD247",
        "hgnc": "HGNC:1677",
        "name": "CD247 molecule",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd247"
      },
      {
        "slug": "chek2",
        "symbol": "CHEK2",
        "hgnc": "HGNC:16627",
        "name": "checkpoint kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chek2"
      },
      {
        "slug": "ddr2",
        "symbol": "DDR2",
        "hgnc": "HGNC:2731",
        "name": "discoidin domain receptor tyrosine kinase 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ddr2"
      },
      {
        "slug": "f8",
        "symbol": "F8",
        "hgnc": "HGNC:3546",
        "name": "coagulation factor VIII",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/f8"
      },
      {
        "slug": "hpgd",
        "symbol": "HPGD",
        "hgnc": "HGNC:5154",
        "name": "15-hydroxyprostaglandin dehydrogenase",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hpgd"
      },
      {
        "slug": "il2ra",
        "symbol": "IL2RA",
        "hgnc": "HGNC:6008",
        "name": "interleukin 2 receptor subunit alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il2ra"
      },
      {
        "slug": "il2rb",
        "symbol": "IL2RB",
        "hgnc": "HGNC:6009",
        "name": "interleukin 2 receptor subunit beta",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il2rb"
      },
      {
        "slug": "ocrl",
        "symbol": "OCRL",
        "hgnc": "HGNC:8108",
        "name": "OCRL inositol polyphosphate-5-phosphatase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ocrl"
      },
      {
        "slug": "ptpn2",
        "symbol": "PTPN2",
        "hgnc": "HGNC:9650",
        "name": "protein tyrosine phosphatase non-receptor type 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn2"
      },
      {
        "slug": "ptpn22",
        "symbol": "PTPN22",
        "hgnc": "HGNC:9652",
        "name": "protein tyrosine phosphatase non-receptor type 22",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ptpn22"
      },
      {
        "slug": "rb1",
        "symbol": "RB1",
        "hgnc": "HGNC:9884",
        "name": "RB transcriptional corepressor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rb1"
      },
      {
        "slug": "slco2a1",
        "symbol": "SLCO2A1",
        "hgnc": "HGNC:10955",
        "name": "solute carrier organic anion transporter family member 2A1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slco2a1"
      },
      {
        "slug": "stat4",
        "symbol": "STAT4",
        "hgnc": "HGNC:11365",
        "name": "signal transducer and activator of transcription 4",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/stat4"
      },
      {
        "slug": "tp53",
        "symbol": "TP53",
        "hgnc": "HGNC:11998",
        "name": "tumor protein p53",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tp53"
      },
      {
        "slug": "trappc2",
        "symbol": "TRAPPC2",
        "hgnc": "HGNC:23068",
        "name": "trafficking protein particle complex subunit 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc2"
      },
      {
        "slug": "bmp6",
        "symbol": "BMP6",
        "hgnc": "HGNC:1073",
        "name": "bone morphogenetic protein 6",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bmp6"
      },
      {
        "slug": "col1a1",
        "symbol": "COL1A1",
        "hgnc": "HGNC:2197",
        "name": "collagen type I alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col1a1"
      },
      {
        "slug": "col5a1",
        "symbol": "COL5A1",
        "hgnc": "HGNC:2209",
        "name": "collagen type V alpha 1 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col5a1"
      },
      {
        "slug": "col5a2",
        "symbol": "COL5A2",
        "hgnc": "HGNC:2210",
        "name": "collagen type V alpha 2 chain",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col5a2"
      },
      {
        "slug": "hfe",
        "symbol": "HFE",
        "hgnc": "HGNC:4886",
        "name": "homeostatic iron regulator",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hfe"
      },
      {
        "slug": "syk",
        "symbol": "SYK",
        "hgnc": "HGNC:11491",
        "name": "spleen associated tyrosine kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syk"
      },
      {
        "slug": "cd244",
        "symbol": "CD244",
        "hgnc": "HGNC:18171",
        "name": "CD244 molecule",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cd244"
      },
      {
        "slug": "ciita",
        "symbol": "CIITA",
        "hgnc": "HGNC:7067",
        "name": "class II major histocompatibility complex transactivator",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ciita"
      },
      {
        "slug": "il10",
        "symbol": "IL10",
        "hgnc": "HGNC:5962",
        "name": "interleukin 10",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/il10"
      },
      {
        "slug": "nfkbil1",
        "symbol": "NFKBIL1",
        "hgnc": "HGNC:7800",
        "name": "NFKB inhibitor like 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nfkbil1"
      },
      {
        "slug": "slc22a4",
        "symbol": "SLC22A4",
        "hgnc": "HGNC:10968",
        "name": "solute carrier family 22 member 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/slc22a4"
      }
    ]
  }
}